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1

12p12.1 microdeletion syndrome

12q14 microdeletion syndrome

14q11.2 microduplication syndrome

14q12 microdeletion syndrome

14q22q23 microdeletion syndrome

15q13.3 microdeletion syndrome

16q24.3 microdeletion syndrome

17,20-@LYASE DEFICIENCY, ISOLATED

17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE

17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL

17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY

17-@BETHYDROXYSTEROID DEHYDROGENASE III DEFICIENCY

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

17q21.31 microdeletion syndrome

17q23.1q23.2 microdeletion syndrome

1p21.3 microdeletion syndrome

1p36 deletion syndrome

Top

2

2,4-@DIENOYL-CoREDUCTASE 1, MITOCHONDRIAL

2,4-Dienoyl-CoReductase Deficiency

2-3 toe syndactyly

2-@AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-@METHYLBUTYRYL-CoDEHYDROGENASE DEFICIENCY

2-Aminoadipic and 2-Oxoadipic Aciduria

2-methyl-3-hydroxybutyric aciduria

2-methyl-3-hydroxybutyryl-Codehydrogenase deficiency

2-methyl-3-hydroxybutyryl-Codehydrogenase deficiency (MHBD deficiency)

2-methylbutyryl-Codehydrogenase deficiency

20p12.3 microdeletion syndrome

21-hydroxylase deficiency

21-HYDROXYLASE POLYMORPHISM

22q11.2 Deletion Syndrome

22q11.2 microduplication syndrome

22q13.3 deletion syndrome

261090

2hr glucose

2p21 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

2q23.1 microdeletion syndrome

2q32q33 microdeletion syndrome

2q33.1 microdeletion syndrome

2q37 microdeletion syndrome

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3

3 beta-Hydroxysteroid dehydrogenase deficiency

3 Methylcrotonyl-Cocarboxylase 1 deficiency

3-4 finger syndactyly

3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF

3-@HYDROXY-3-METHYLGLUTARYL-CoLYASE DEFICIENCY

3-@HYDROXY-3-METHYLGLUTARYL-CoREDUCTASE

3-@HYDROXY-3-METHYLGLUTARYL-CoSYNTHASE 2 DEFICIENCY

3-@HYDROXYACYL-CoDEHYDROGENASE DEFICIENCY

3-@HYDROXYISOBUTYRYL-CoHYDROLASE DEFICIENCY

3-@KETOTHIOLASE DEFICIENCY

3-@METHYLCROTONYL-CoCARBOXYLASE 1 DEFICIENCY

3-@METHYLCROTONYL-CoCARBOXYLASE 2 DEFICIENCY

3-@METHYLGLUTACONIC ACIDURIA, TYPE I

3-@METHYLGLUTACONIC ACIDURIA, TYPE III

3-@METHYLGLUTACONIC ACIDURIA, TYPE V

3-@METHYLGLUTACONIC ACIDURIWITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE

3-hydroxy-3-methylglutaric aciduria

3-Hydroxy-3-Methylglutaryl-Coenzyme Lyase Deficiency

3-Hydroxy-3-Methylglutaryl-CoSynthase 2 Deficiency

3-hydroxy-3-methylglutaryl-Cosynthase deficiency

3-Hydroxyacyl-Coenzyme Dehydrogenase Deficiency

3-M syndrome 1

3-M syndrome 2

3-methylcrotonyl Cocarboxylase 2 deficiency

3-Methylcrotonyl-Cocarboxylase 2 deficiency

3-Methylcrotonyl-CoCarboxylase Deficiency

3-Methylglutaconic aciduria

3-methylglutaconic aciduria type 1

3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 3

3-methylglutaconic aciduria type V

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

3-Phosphoglycerate dehydrogenase deficiency

3-Phosphoserine phosphatase deficiency

3@M SYNDROME

3C syndrome

3M syndrome

3MC SYNDROME 1

3MC SYNDROME 2

Top

4

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

4-hydroxybutyric aciduria

4-Hydroxyphenylpyruvate dioxygenase deficiency

45,X/46,XY mixed gonadal dysgenesis

46,XX gonadal dysgenesis

46,XX ovotesticular disorder of sex development

46,XX SEX REVERSAL 1

46,XX SEX REVERSAL 2

46,XX SEX REVERSAL 3

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;

46,XX testicular disorder of sex development

46,XY complete gonadal dysgenesis

46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY disorder of sex development due to isolated 17, 20 lyase deficiency

46,XY gonadal dysgenesis - motor and sensory neuropathy

46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED

46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY

46,XY partial gonadal dysgenesis

46,XY SEX REVERSAL 1

46,XY SEX REVERSAL 2

46,XY SEX REVERSAL 3

46,XY SEX REVERSAL 4

46,XY SEX REVERSAL 5

46,XY SEX REVERSAL 6

46,XY SEX REVERSAL 7

46,XY SEX REVERSAL 8

46,XY sex reversal, type 1

46,XY sex reversal, type 3

46,XY sex reversal, type 5

46,XY sex reversal, type 6

46,XY true hermaphroditism, sry-related

46XY sex reversal 1

46XY sex reversal 3

46XY sex reversal 6

Top

5

5-@FLUOROURACIL TOXICITY

5-@OXOPROLINASE DEFICIENCY

5-HTT brain serotonin transporter levels

5-oxoprolinase deficiency

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

5q35 microduplication syndrome

Top

6

6-pyruvoyl-tetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

6q terminal deletion syndrome

6q16 deletion syndrome

6q25 microdeletion syndrome

Top

7

7q31 microdeletion syndrome

Top

8

8p11.2 deletion syndrome

8p23.1 microdeletion syndrome

8q24.3 deletion-like

Top

9

9q subtelomeric deletion syndrome (9q- syndrome)

Top

A

Aarskog syndrome

AARSKOG-SCOTT SYNDROME

Aarskog-Scott syndrome (AAS)

Aase syndrome

ABCB11-Related Intrahepatic Cholestasis

ABCD SYNDROME

Abdominal aortic aneurysm

Abdominal Fat

ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND

ABDOMINAL OBESITY-METABOLIC SYNDROME 3

Abetalipoproteinaemia

ABETALIPOPROTEINEMIA

Abnormal facial shape

Abnormality of head and neck

Abnormality of limb bone morphology

Abnormality of mitochondrial metabolism

Abnormality of skin pigmentation

Abnormality of the aortic valve

Abnormality of the bladder

Abnormality of the cerebrum

Abnormality of the diaphragm

Abnormality of the ear

Abnormality of the eye

Abnormality of the eyebrow

Abnormality of the eyelid

Abnormality of the foot

Abnormality of the heart

Abnormality of the kidney

Abnormality of the midface

Abnormality of the mouth

Abnormality of the nervous system

Abnormality of the pinna

Abnormality of the respiratory system

Abnormality of the ribs

Abnormality of the skeletal system

Abnormality of the sternum

ABO GLYCOSYLTRANSFERASE

Abruzzo Erickson syndrome

Abruzzo-Erickson syndrome

Absent speech

ACAMPOMELIC CAMPOMELIC DYSPLASIA

ACANTHOCYTOSIS DUE TO BAND 3 HT

ACATALASEMIA

ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO

Acenocoumarol maintenance dosage

ACERULOPLASMINEMIA

Acetazolamide-responsive myotonia

ACETYL-CoCARBOXYLASE DEFICIENCY

ACETYLATION, SLOW

ACHALASIA-ADDISONIANISM-ALACRIMSYNDROME

ACHALASIA-ALACRIMSYNDROME

ACHEIROPODY

Achondrogenesis type 1(ACG1A)

Achondrogenesis type 1A

Achondrogenesis type 1B

Achondrogenesis type 1B (ACG1B)

Achondrogenesis type 2

Achondrogenesis type 2 (ACG2)

ACHONDROGENESIS, TYPE IA

ACHONDROGENESIS, TYPE IB

ACHONDROGENESIS, TYPE II

ACHONDROPLASIA

Achondroplasia (ACH)

Achondroplasia, severe, with developmental delay and acanthosis nigricans

ACHROMATOPISI5

ACHROMATOPSI2

ACHROMATOPSI3

ACHROMATOPSI4

Achromatopsia

Achromatopsia 5

Achromatopsia 6

ACID ALPHA-GLUCOSIDASE, ALLELE 2

ACID ALPHA-GLUCOSIDASE, ALLELE 4

ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF

ACID PHOSPHATASE DEFICIENCY

ACID-LABILE SUBUNIT DEFICIENCY

ACNE INVERSA, FAMILIAL, 1

ACNE INVERSA, FAMILIAL, 2

ACNE INVERSA, FAMILIAL, 3

Acquired hemoglobin H disease

Acquired idiopathic sideroblastic anemia

ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO

Acquired long QT syndrome

Acquired partial lipodystrophy

Acquired susceptibility to long QT syndrome 1

Acral dystrophic epidermolysis bullosa

Acral peeling skin syndrome

Acral self-healing collodion baby

Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)

Acro-Renal-Ocular Syndrome

Acrocallosal syndrome

Acrocallosal syndrome, Schinzel type

Acrocapitofemoral dysplasia

Acrocephalopolysyndactyly type 2

Acrocephalosyndactyly type I

Acrocephalosyndactyly type V (ACS5)

Acrodermatitis continua suppurativa of Hallopeau

ACRODERMATITIS ENTEROPATHICA

ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE

Acrodysostosis

ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE

ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE

Acrodysostosis with multiple hormone resistance

Acroerythrokeratoderma

ACROFACIAL DYSOSTOSIS 1, NAGER TYPE

Acrofacial dysostosis Weyers type (WAD)

Acrofacial dysostosis, Weyers type

Acrogeria

ACROKERATOSIS VERRUCIFORMIS

Acrokeratosis verruciformis (AKV)

Acrokeratosis verruciformis of Hopf

Acromegaloid facial appearance syndrome

Acromegaly

Acromesomelic chondrodysplasia Grebe type (AMDG)

Acromesomelic chondrodysplasia Hunter-Thompson type (AMDH)

Acromesomelic dysplasia Maroteaux type

Acromesomelic dysplasia Maroteaux type (AMDM)

Acromesomelic dysplasia, Grebe type

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Acromesomelic dysplasia, Hunter-Thomson type

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

ACROMICRIC DYSPLASIA

Acroosteolysis dominant type

ACTH deficiency

ACTH DEFICIENCY, ISOLATED

ACTH resistance

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA

ACTH-independent macronodular adrenal hyperplasia (AIMAH)

ACTININ, ALPHA-3

ACTININ, ALPHA-3 POLYMORPHISM

Action myoclonus - renal failure syndrome

Activated partial thromboplastin time

Activated PI3K-delta syndrome

Activated PIK3-delta syndrome

Actn3 deficiency

Acute alcohol sensitivity

Acute basophilic leukemia

Acute biphenotypic leukemia

Acute encephalopathy with biphasic seizures and late reduced diffusion

Acute fatty liver of pregnancy

Acute Hepatic Porphyria

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure-multisystemic involvement syndrome

Acute inflammatory demyelinating polyradiculoneuropathy

Acute intermittent porphyria

Acute lymphoblastic leukemia (B-cell precursor)

Acute lymphoblastic leukemia (childhood)

Acute lymphoid leukemia

Acute megakaryoblastic leukemia without Down syndrome

Acute myeloblastic leukemia with maturation

Acute myeloblastic leukemia without maturation

Acute myeloid leukemia

Acute myeloid leukemia with 11q23 abnormalities

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

Acute myeloid leukemia with CEBPsomatic mutations

Acute myeloid leukemia with multilineage dysplasia

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia, M6 type

Acute myelomonocytic leukemia

Acute Necrotizing Encephalopathy 1, Susceptibility to

Acute necrotizing encephalopathy of childhood

Acute neonatal citrullinemia type I

Acute neuronopathic Gauchers disease

ACUTE PROMYELOCYTIC LEUKEMIA

Acute undifferentiated leukemia

Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)

Acyl-Codehydrogenase 9 deficiency

Acyl-Codehydrogenase family member type 9 deficiency

ACYL-CoDEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF

Acyl-Codehydrogenase medium-chain deficiency

Acyl-Codehydrogenase short-chain deficiency

Acyl-Codehydrogenase very long-chain deficiency

ACYL-CoDEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF

ACYL-CoDEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

ACYL-CoDEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF

Adactyly of foot, bilateral

Adactyly of foot, unilateral

Adams Oliver syndrome

Adams-Oliver syndrome

ADAMS-OLIVER SYNDROME 1

Adams-Oliver syndrome 2

ADAMS-OLIVER SYNDROME 3

ADAMS-OLIVER SYNDROME 4

Addiction

Addison disease, susceptibility to

Addisons disease

Adenine phosphoribosyltransferase deficiency

Adenocarcinoma of lung

Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic

Adenocarcinoma of ovary

ADENOCARCINOMA, COLONIC, SOMATIC

ADENOCARCINOMOF LUNG, SOMATIC

Adenoma of the adrenal gland

Adenoma, cortisol-producing

Adenomatous polyposis coli

Adenomatous polyposis coli with congenital cholesteatoma

Adenomatous polyposis coli, susceptibility to

ADENOSINE DEAMINASE 2 ALLOZYME

Adenosine Deaminase Deficiency

ADENOSINE DEAMINASE DEFICIENCY, PARTIAL

Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency erythrocyte type

ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES

ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIDUE TO

ADENYLOSUCCINASE DEFICIENCY

Adenylosuccinase deficiency (ADSL deficiency)

Adenylosuccinate lyase deficiency

ADERMATOGLYPHIA

ADIE PUPIL

Adiponectin

Adiponectin levels

ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1

Adiposity

Adiposity in newborns

Adolescent idiopathic scoliosis (severe)

Adolescent nephronophthisis

ADP-RIBOSYLTRANSFERASE 4

ADRENAL CORTICAL TUMOR, SOMATIC

Adrenal hyperplasia 2

Adrenal hyperplasia 3

Adrenal hyperplasia 4

Adrenal hyperplasia 5

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY

ADRENAL HYPOPLASIA, CONGENITAL

Adrenal insufficiency

ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL

ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE

Adrenocortical carcinoma

ADRENOCORTICAL CARCINOMA, HEREDITARY

ADRENOCORTICAL CARCINOMA, PEDIATRIC

ADRENOCORTICAL INSUFFICIENCY

ADRENOLEUKODYSTROPHY

Adrenoleukodystrophy neonatal (NALD)

Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD)

Adrenoleukodystrophy, X-Linked

ADRENOMYELONEUROPATHY

Adult hypophosphatasia

Adult i Blood Group with or without Congenital Cataract

ADULT i PHENOTYPE

Adult junctional epidermolysis bullosa

Adult Krabbe disease

Adult neuronal ceroid lipofuscinosis

Adult onset ataxia with oculomotor apraxia

Adult polyglucosan body disease

ADULT SYNDROME

Adult-onset autosomal dominant leukodystrophy

Adult-onset autosomal recessive cerebellar ataxia

Adult-onset autosomal recessive sideroblastic anemia

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset citrullinemia type I

Adult-onset distal myopathy due to VCP mutation

Adult-onset dystonia-parkinsonism

Adult-onset foveomacular vitelliform dystrophy

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Adult-onset multiple mitochondrial DNdeletion syndrome due to DGUOK deficiency

Adult-onset proximal spinal muscular atrophy, autosomal dominant

Adult-onset vitelliform macular dystrophy

Adult-onset vitelliform macular dystrophy (AVMD)

Advanced age related macular degeneration

Advanced sleep phase syndrome, familial

ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1

ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2

Adverse response to aromatase inhibitors

Adverse response to carbamapezine

Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)

Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)

Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)

Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)

Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)

Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)

Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)

Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)

Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)

Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)

Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)

Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)

Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)

Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)

Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)

Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)

Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)

Adverse response to chemotherapy in breast cancer (alopecia)

Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)

Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)

Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)

Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)

Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)

Adverse response to lamotrigine and phenytoin

Adverse response to radiation therapy

AEG syndrome

AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST

Afibrinogenemia

AFIBRINOGENEMIA, CONGENITAL

AGAMMAGLOBULINEMI2, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMI2, AUTOSOMAL RECESSIVE (1 family)

AGAMMAGLOBULINEMI3, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMI4, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMI5, AUTOSOMAL DOMINANT

AGAMMAGLOBULINEMI6, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMI7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA, X-LINKED

Age Related Macular Degeneration with GeographicAtropy

Age Related Macular Degeneration with neovascularization

Age-related macular degeneration

Age-related macular degeneration (CNV vs. GA)

Age-related macular degeneration (CNV)

Age-related macular degeneration (extreme sampling)

Age-related macular degeneration (GA)

Age-related macular degeneration (smoking status interaction)

Age-related macular degeneration (wet)

Age-related macular degeneration 11

Age-related macular degeneration 12

Age-related macular degeneration 14

Age-related macular degeneration 2

Age-related macular degeneration 3

Age-related macular degeneration 4

Age-related macular degeneration 5

Age-related macular degeneration 6

Age-related macular degeneration 7

Age-related macular degeneration 8

Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia

Agenesis of the corpus callosum with abnormal genitalia (ACCAG)

Agenesis of the corpus callosum with mental retardation-ocular coloboma-micrognathia (ACCMRCM)

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY

Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)

Aggressive behavior

Aging

Aging (facial)

Aging (time to death)

Aging (time to event)

Aging traits

Agnathia - holoprosencephaly - situs inversus

Agnathia-otocephaly complex

AICA-ribosiduria

AICA-RIBOSIDURIDUE TO ATIC DEFICIENCY

AICA-ribosuria (AICAR)

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY

Aicardi Goutieres syndrome 1

Aicardi Goutieres syndrome 1, autosomal dominant

Aicardi Goutieres syndrome 2

Aicardi Goutieres syndrome 3

Aicardi Goutieres syndrome 4

Aicardi Goutieres syndrome 5

Aicardi-Goutieres Syndrome

AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT

Aicardi-Goutieres syndrome 1, dominant and recessive

AICARDI-GOUTIERES SYNDROME 2

AICARDI-GOUTIERES SYNDROME 3

AICARDI-GOUTIERES SYNDROME 4

AICARDI-GOUTIERES SYNDROME 5

AICARDI-GOUTIERES SYNDROME 6

Aicardi-Goutieres syndrome 7

Aicardi-Goutires syndrome associated with a type I interferon signature

AIDS

AIDS progression

Airflow obstruction

Airway hyperresponsiveness

Alacrima, achalasia, and mental retardation syndrome

Alagille Syndrome

ALAGILLE SYNDROME 1

ALAGILLE SYNDROME 2

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

ALAND ISLAND EYE DISEASE

Aland Islands eye disease

Alanine Transaminase

ALAZAMI SYNDROME

Albers-Schonberg osteopetrosis

ALBINISM, OCULAR, TYPE I

ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS

ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE

Albinism, oculocutaneous, 1A

Albinism, oculocutaneous, 1B

Albinism, oculocutaneous, 2

Albinism, oculocutaneous, 4

ALBINISM, OCULOCUTANEOUS, TYPE IA

ALBINISM, OCULOCUTANEOUS, TYPE IB

ALBINISM, OCULOCUTANEOUS, TYPE II

ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF

ALBINISM, OCULOCUTANEOUS, TYPE III

ALBINISM, OCULOCUTANEOUS, TYPE IV

ALBINISM, OCULOCUTANEOUS, TYPE VII

Albright hereditary osteodystrophy (AHO)

ALBUMIN

ALBUMIN ADANA

ALBUMIN ASOLA

ALBUMIN B

ALBUMIN BAZZANO

ALBUMIN BIRMINGHAM

ALBUMIN BLENHEIM

ALBUMIN BREMEN

ALBUMIN CASEBROOK

ALBUMIN CASERTA

ALBUMIN CASTEL DI SANGRO

ALBUMIN CATANIA

ALBUMIN COARI 1

ALBUMIN COOPERSTOWN

ALBUMIN DUBLIN

ALBUMIN FUKUOK1

ALBUMIN FUKUOK2

ALBUMIN GE/CT

ALBUMIN GHENT

ALBUMIN HAWKES BAY

ALBUMIN HERBORN

ALBUMIN HIROSHIM1

ALBUMIN HIROSHIM2

ALBUMIN HONOLULU 1

ALBUMIN HONOLULU 2

ALBUMIN IOWCITY 1

ALBUMIN IOWCITY 2

ALBUMIN KOMAGOME 2

ALBUMIN LAMBADI

ALBUMIN LARINO

ALBUMIN LILLE

ALBUMIN MAKU

ALBUMIN MALMO 10

ALBUMIN MALMO 47

ALBUMIN MALMO 5

ALBUMIN MALMO 95

ALBUMIN MANAUS-1

ALBUMIN MERSIN

ALBUMIN MEXICO 1

ALBUMIN MEXICO 2

ALBUMIN MILANO FAST

ALBUMIN NAGANO

ALBUMIN NAGASAKI 1

ALBUMIN NAGASAKI 2

ALBUMIN NAGASAKI 3

ALBUMIN NAGOYA

ALBUMIN NASKAPI

ALBUMIN NEW GUINEA

ALBUMIN NIIGATA

ALBUMIN OLIPHANT

ALBUMIN ORIXIMINA-1

ALBUMIN ORTONOVO

ALBUMIN OSAK1

ALBUMIN OSAK2

ALBUMIN PARKLANDS

ALBUMIN PHNOM PENH

ALBUMIN PORTO ALEGRE 1

ALBUMIN PORTO ALEGRE 2

ALBUMIN REDHILL

ALBUMIN ROMA

ALBUMIN RUGBY PARK

ALBUMIN SONDRIA

ALBUMIN TAGLIACOZZO

ALBUMIN TAIPEI

ALBUMIN TOCHIGI

ALBUMIN TORINO

ALBUMIN TRADATE 2

ALBUMIN VANCOUVER

ALBUMIN VANVES

ALBUMIN VARESE

ALBUMIN VERONB

ALBUMIN VIBO VALENTIA

ALBUMIN YANOMAM2

Albumins

Albuminuria

Alcohol and nictotine co-dependence

Alcohol consumption

Alcohol consumption (maxi-drinks)

Alcohol consumption (transferrin glycosylation)

ALCOHOL DEHYDROGENASE 1B, CLASS I, BETPOLYPEPTIDE

ALCOHOL DEPENDENCE

ALCOHOL DEPENDENCE, PROTECTION AGAINST

Alcohol dependence, susceptibility to

Alcohol Drinking

ALCOHOL SENSITIVITY, ACUTE

Alcoholism

Alcoholism (12-month weekly alcohol consumption)

Alcoholism (alcohol dependence factor score)

Alcoholism (alcohol use disorder factor score)

Alcoholism (heaviness of drinking)

ALCOHOLISM, SUSCEPTIBILITY TO

ALDEHYDE DEHYDROGENASE 2 FAMILY

ALDH18A1-related DeBarsy syndrome

ALDH9A1*2 POLYMORPHISM

Aldosterone to renin ratio, increased

Aldosterone-producing adenoma with seizures and neurological abnormalities

ALDOSTERONE-PRODUCING ADRENAL ADENOMA, SOMATIC

Aleukemic mast cell leukemia

ALEXANDER DISEASE

Alexander disease type I

Alexander disease type II

Alexanders disease

ALG1-CDG

ALG1-CDG (CDG-Ik)

ALG11-CDG

ALG11-CDG (CDG-Ip)

ALG12-CDG

ALG13-CDG

ALG2-CDG

ALG2-CDG (CDG-Ii)

ALG3-CDG

ALG3-CDG (CDG-Id)

ALG6-CDG

ALG6-CDG (CDG-Ic)

ALG8-CDG

ALG8-CDG (CDG-Ih)

ALG9-CDG

ALG9-CDG (CDG-IL)

ALK-positive anaplastic large cell lymphoma

ALK-positive large B-cell lymphoma

Alkaline Phosphatase

ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM

ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM

ALKAPTONURIA

ALLAN-HERNDON-DUDLEY SYNDROME

Allergic dermatitis (nickel)

ALLERGIC RHINITIS

Allergic rhinitis, susceptibility to

Allergic sensitization

AllHighlyPenetrant

Almond-shaped palpebral fissure

Alobar holoprosencephaly

Alopecia and T-Cell Immunodeficiency

Alopecia areata

Alopecia neurologic defects and endocrinopathy syndrome (ANES)

Alopecia universalis

ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME

ALOPECIUNIVERSALIS CONGENITA

Alpers syndrome

Alpha Thalassemia

Alpha-1-antichymotrypsin deficiency

ALPHA-1-ANTITRYPSIN DEFICIENCY

ALPHA-2-MACROGLOBULIN POLYMORPHISM

ALPHA-2-PLASMIN INHIBITOR DEFICIENCY

ALPHA-2ADRENERGIC RECEPTOR, OVEREXPRESSION or TYPE 2 DIABETES SUSCEPTIBILITY (safer to say the former than the latter)

Alpha-B crystallinopathy

Alpha-crystallinopathy

ALPHA-FETOPROTEIN

ALPHA-FETOPROTEIN DEFICIENCY

ALPHA-MANNOSIDOSIS

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

ALPHA-METHYLACETOACETIC ACIDURIA

ALPHA-METHYLACYL-CoRACEMASE DEFICIENCY

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 3

ALPHA-PLUS-THALASSEMIA

ALPHA-THALASSEMIA

Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16

Alpha-thalassemia - myelodysplastic syndrome

Alpha-thalassemia - X-linked intellectual disability syndrome

Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX)

ALPHA-THALASSEMIA, DUTCH TYPE

ALPHA-THALASSEMIA-2, NONDELETIONAL

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED

ALPHA-THALASSEMIMYELODYSPLASIA SYNDROME

ALPHA/BETT-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE

ALPHA/BETT-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY

Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis

Alport syndrome autosomal dominant

Alport syndrome autosomal recessive

Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR)

Alport syndrome, autosomal dominant

ALPORT SYNDROME, AUTOSOMAL RECESSIVE

ALPORT SYNDROME, X-LINKED

Alport syndrome, X-linked recessive

ALPP*1

ALPP*3

ALSTROM SYNDROME

Alternating hemiplegia of childhood 1

ALTERNATING HEMIPLEGIOF CHILDHOOD

ALTERNATING HEMIPLEGIOF CHILDHOOD 2

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)

ALVEOLAR CAPILLARY DYSPLASIWITH MISALIGNMENT OF PULMONARY VEINS

ALVEOLAR CAPILLARY DYSPLASIWITH MISALIGNMENT OF PULMONARY VEINS;

Alveolar rhabdomyosarcoma

Alveolar soft-tissue sarcoma

ALZHEIMER DISEASE

ALZHEIMER DISEASE 18

ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO

ALZHEIMER DISEASE 2

ALZHEIMER DISEASE 2, DUE TO APOE4 ISOFORM

ALZHEIMER DISEASE 3

ALZHEIMER DISEASE 4

Alzheimer disease, early-onset, susceptibility to

ALZHEIMER DISEASE, FAMILIAL, 1

ALZHEIMER DISEASE, FAMILIAL, 3

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS

ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA

ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES

ALZHEIMER DISEASE, FAMILIAL, 4

ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES

ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO

ALZHEIMER DISEASE, PROTECTION AGAINST

Alzheimer disease, susceptibility to

ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL

Alzheimer disease, type 1

Alzheimer disease, type 3

Alzheimer disease, type 4

Alzheimer's disease

Alzheimer's disease (age of onset)

Alzheimer's disease (cognitive decline)

Alzheimer's disease (late onset)

Alzheimer's disease biomarkers

Alzheimers disease

Ambiguous genitalia

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL

Amelo-cerebro-hypohidrotic syndrome

Amelogenesis imperfecta - hypoplastic autosomal dominant - local

Amelogenesis imperfecta - nephrocalcinosis

Amelogenesis imperfecta and gingival fibromatosis syndrome

Amelogenesis imperfecta and gingival hyperplasia syndrome

Amelogenesis imperfecta pigmented hypomaturation type

Amelogenesis imperfecta, hypocalcification type

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4

Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE

AMELOGENESIS IMPERFECTA, TYPE 1E

AMELOGENESIS IMPERFECTA, TYPE IB

AMELOGENESIS IMPERFECTA, TYPE IC

AMELOGENESIS IMPERFECTA, TYPE IE

AMELOGENESIS IMPERFECTA, TYPE III

AMELOGENESIS IMPERFECTA, TYPE III, LOCALIZED

AMELOGENESIS IMPERFECTA, TYPE IV

Amelogenesis Imperfecta.

AMINOACYLASE 1 DEFICIENCY

Aminoacylase-1 deficiency

Aminoadipic aciduria

Aminoglycoside-induced deafness

AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM

AMISH INFANTILE EPILEPSY SYNDROME

Amish lethal microcephaly

Amish nemaline myopathy

AML - Acute myeloid leukemia

AMME COMPLEX

Amyelogenesis

Amyloid Cardiomyopathy, Transthyretin-related

AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWTYPE

Amyloid serum levels

Amyloidogenic transthyretin amyloidosis

Amyloidosis 6

Amyloidosis 8

AMYLOIDOSIS IV, FORMERLY

Amyloidosis transthyretin-related

AMYLOIDOSIS, CARDIAC AND CUTANEOUS

AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE

AMYLOIDOSIS, FAMILIAL VISCERAL

AMYLOIDOSIS, FAMILIAL, FINNISH TYPE

AMYLOIDOSIS, FINNISH TYPE

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF

AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED

AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1

AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2

Amyloidosis, van allen type

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (age of onset)

Amyotrophic lateral sclerosis (sporadic)

AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE

Amyotrophic lateral sclerosis 10

AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIAND WITH TDP43 INCLUSIONS

AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIAND WITH TDP43 INCLUSIONS

AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;

AMYOTROPHIC LATERAL SCLEROSIS 11

AMYOTROPHIC LATERAL SCLEROSIS 12

AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia

AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;

AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE

AMYOTROPHIC LATERAL SCLEROSIS 17

AMYOTROPHIC LATERAL SCLEROSIS 18

Amyotrophic lateral sclerosis 19

AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE

Amyotrophic lateral sclerosis 20

AMYOTROPHIC LATERAL SCLEROSIS 21

Amyotrophic lateral sclerosis 4

AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE

AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA

AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE

AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;

AMYOTROPHIC LATERAL SCLEROSIS 8

AMYOTROPHIC LATERAL SCLEROSIS 9

Amyotrophic lateral sclerosis in males, susceptibility to

Amyotrophic lateral sclerosis type 1

Amyotrophic lateral sclerosis type 10

Amyotrophic lateral sclerosis type 11

Amyotrophic lateral sclerosis type 12

Amyotrophic lateral sclerosis type 2

Amyotrophic lateral sclerosis type 4

Amyotrophic lateral sclerosis type 6

Amyotrophic lateral sclerosis type 8

Amyotrophic lateral sclerosis type 9

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

Amyotrophic lateral sclerosis, typical

Amyotrophic lateral sclerosis-parkinsonism-dementia complex

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTICOMPLEX 1

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTICOMPLEX 1, SUSCEPTIBILITY TO

AMYOTROPHY, HEREDITARY NEURALGIC

Anal stenosis

ANALBUMINEMIA

Analbuminemia roma

ANALBUMINEMIA, AMERICAN INDIAN TYPE

Anaphylotoxin inactivator deficiency

Anauxetic dysplasia

Andermann syndrome

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Andersen Tawil syndrome

ANDROGEN INSENSITIVITY SYNDROME

ANDROGEN INSENSITIVITY, COMPLETE

ANDROGEN INSENSITIVITY, PARTIAL

ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER

Androgen levels

Androgen resistance syndrome

ANE syndrome

Anemia sideroblastic and spinocerebellar ataxia

Anemia, congenital dyserythropoietic, 1A

Anemia, congenital dyserythropoietic, 2

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV

ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET

ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY

ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD

ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1

ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2

ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL

ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Anemia, nonspherocytic hemolytic, due to g6pd deficiency

ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA

ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE

Anemia, sideroblastic, with ataxia

ANEMIA, SIDEROBLASTIC, X-LINKED

ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIAND/OR PLATELET ABNORMALITIES;

Aneurysm

Aneurysm - osteoarthritis syndrome

Angel-shaped phalango-epiphyseal dysplasia

ANGELMAN SYNDROME

ANGIOEDEMA, HEREDITARY, TYPE I

ANGIOEDEMA, HEREDITARY, TYPE II

ANGIOEDEMA, HEREDITARY, TYPE III

ANGIOEDEMINDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO

Angiofibroma, somatic

Angiography

ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS

ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;

ANGIOTENSIN I-CONVERTING ENZYME

ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM

ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE

Angiotensin-converting enzyme activity

Anhaptoglobinemia

ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO

Anhidrotic ectodermal dysplasia with immune deficiency

ANIRIDIA

Aniridia (AN)

Aniridia - cerebellar ataxia - intellectual disability

Aniridia cerebellar ataxia and mental deficiency (ACAMD)

ANIRIDIA, ATYPICAL

ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION

Ankle-brachial index

Ankyloblepharon - ectodermal defects - cleft lip/palate

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)

Ankylosing spondylitis

Annotated by HGMD but no phenotype description is publicly available

Annular epidermolytic ichthyosis

Anonychia

Anonychia congenita

Anophthalmia

Anophthalmia/microphthalmia

Anophthalmia/microphthalmia - esophageal atresia

Anophthalmos with limb anomalies

Anorexia nervosa

Anorexia nervosa 2

Anotia

Antenatal Bartter syndrome

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Anterior polar cataract

ANTERIOR SEGMENT ANOMALIES

ANTERIOR SEGMENT ANOMALIES AND CATARACT

ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS

Anterior segment mesenchymal dysgenesis (ASMD)

Anthropometric traits

Anti-cyclic Citrullinated Peptide Antibody

Anti-plasmin deficiency, congenital

Antibody status in Tripanosoma cruzi seropositivity

ANTICHYMOTRYPSIN BOCHUM 1

ANTICHYMOTRYPSIN BONN 1

ANTICHYMOTRYPSIN ISEHAR1

ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM

Anticoagulant levels

Antigen in Scianna blood group system

Antineutrophil cytoplasmic antibody-associated vasculitis

Antipsychotic drug-induced weight gain

Antipsychotic-induced QTc interval prolongation

Antithrombin III deficiency

Antithrombin pittsburgh

Antley-Bixler syndrome

Antley-Bixler syndrome (ABS)

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS;

Antley-bixler syndrome without genital anomalies or disordered steroidogenesis

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;

Anxiety and major depressive disorder

Anxiety in major depressive disorder

Aorta

Aortic aneurysm

Aortic aneurysm familial thoracic type 5 (AAT5)

AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1

Aortic aneurysm, familial thoracic 4

AORTIC ANEURYSM, FAMILIAL THORACIC 6

AORTIC ANEURYSM, FAMILIAL THORACIC 7

Aortic aneurysm, familial thoracic 8

Aortic root size

Aortic stiffness

Aortic supravalvular stenosis

AORTIC VALVE DISEASE 1

AORTIC VALVE DISEASE 2

Aortic valve disorder

Aortic-valve calcification

APC-related attenuated familial adenomatous polyposis

APERT SYNDROME

Apert syndrome (APRS)

APHAKIA, CONGENITAL PRIMARY

Aphasia, primary progressive, susceptibility to

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Aplasia/Hypoplasia of the corpus callosum

APLASICUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL

APLASIOF LACRIMAL AND SALIVARY GLANDS

APLASTIC ANEMIA

APLASTIC ANEMIA, SUSCEPTIBILITY TO

APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1

APOCRINE GLAND SECRETION, VARIATION IN

APOE KYOTO

APOE SENDAI

APOE2 ISOFORMS

APOE2 VARIANT

APOE2-DUNEDIN

APOE3 VARIANT

APOE3(-)-FREIBURG

APOE3(-)-KOCHI

APOE3-WASHINGTON

APOE4 VARIANT

APOE4(+)

APOE4(-)-FREIBURG

APOH POLYMORPHISM

Apolipoprotein A-I

APOLIPOPROTEIN A-I (BALTIMORE)

APOLIPOPROTEIN A-I (GIESSEN)

APOLIPOPROTEIN A-I (MARBURG)

APOLIPOPROTEIN A-I (MILANO)

APOLIPOPROTEIN A-I (MUNSTER3B)

APOLIPOPROTEIN A-I (MUNSTER3C)

APOLIPOPROTEIN A-I (MUNSTER4)

APOLIPOPROTEIN A-I (NORWAY)

APOLIPOPROTEIN A-I DEFICIENCY

APOLIPOPROTEIN A-II

APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2

APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3

APOLIPOPROTEIN B

APOLIPOPROTEIN C-II (AFRICAN)

APOLIPOPROTEIN C-II (AUCKLAND)

APOLIPOPROTEIN C-II (BARI)

APOLIPOPROTEIN C-II (PADOVA)

APOLIPOPROTEIN C-II (PARIS)

APOLIPOPROTEIN C-II (SAN FRANCISCO)

APOLIPOPROTEIN C-II (WAKAYAMA)

APOLIPOPROTEIN C-II DEFICIENCY

APOLIPOPROTEIN C-II VARIANT

APOLIPOPROTEIN C-III, NONGLYCOSYLATED

Apolipoprotein C2 deficiency

APOLIPOPROTEIN E

Apolipoprotein Levels

APOLIPOPROTEIN(a)

Apolipoproteinemia E1

Apolipoproteins B

Apolipoproteins C

Apolipoproteins E

APPARENT MINERALOCORTICOID EXCESS

Apparent mineralocorticoid excess, mild

APRT DEFICIENCY

APRT DEFICIENCY, JAPANESE TYPE

AQUAPORIN 1 DEFICIENCY

Arachnodactyly

Arachnoid cyst

Are the cause of pseudoachondroplasia (PSACH)

Arginase deficiency

ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Arginine:glycine amidinotransferase deficiency (AGAT deficiency)

ARGININEMIA

Argininemia (ARGIN)

Argininosuccinate Lyase Deficiency

ARGININOSUCCINIC ACIDURIA

Arnold-Chiari malformation type II

AROMATASE DEFICIENCY

AROMATASE EXCESS SYNDROME

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Aromatic L-amino-acid decarboxylase deficiency

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy, type 1

Arrhythmogenic right ventricular cardiomyopathy, type 10

Arrhythmogenic right ventricular cardiomyopathy, type 11

Arrhythmogenic right ventricular cardiomyopathy, type 12

Arrhythmogenic right ventricular cardiomyopathy, type 2

Arrhythmogenic right ventricular cardiomyopathy, type 5

Arrhythmogenic right ventricular cardiomyopathy, type 8

Arrhythmogenic right ventricular cardiomyopathy, type 9

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9

Arterial calcification of infancy

Arterial calcification of infancy, generalized, 2

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

Arterial calcification, generalized, of infancy, 2

Arterial stiffness

Arterial thrombosis

ARTERIAL TORTUOSITY SYNDROME

Arteries

Arthritis (juvenile idiopathic)

Arthrogryposis - renal dysfunction - cholestasis

Arthrogryposis multiplex congenita

Arthrogryposis Multiplex Congenita and Intellectual Disability

Arthrogryposis multiplex congenita distal type 1

Arthrogryposis multiplex congenita, distal, X-linked

Arthrogryposis renal dysfunction cholestasis syndrome

Arthrogryposis with oculomotor limitation and electroretinal anomalies

Arthrogryposis, distal, 2B

Arthrogryposis, distal, 9

ARTHROGRYPOSIS, DISTAL, TYPE 1

ARTHROGRYPOSIS, DISTAL, TYPE 1A

ARTHROGRYPOSIS, DISTAL, TYPE 1B

ARTHROGRYPOSIS, DISTAL, TYPE 2A

ARTHROGRYPOSIS, DISTAL, TYPE 2B

Arthrogryposis, distal, type 3

ARTHROGRYPOSIS, DISTAL, TYPE 5

ARTHROGRYPOSIS, DISTAL, TYPE 5D

ARTHROGRYPOSIS, DISTAL, TYPE 7

ARTHROGRYPOSIS, DISTAL, TYPE 9

Arthrogryposis, lethal, with anterior horn cell disease

ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES

ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (1 family)

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

Arthrogryposis, renal dysfunction, and cholestasis 2

Arthrogryposis-like syndrome

ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD

ARTS SYNDROME

ARTS syndrome (ARTS)

Arylsulfatase a, allele a

Arylsulfatase Deficiency

ARYLSULFATASE POLYMORPHISM

ARYLSULFATASE PSEUDODEFICIENCY

ARYLSULFATASE PSEUDODEFICIENCY, INTERMEDIATE

ARYLSULFATASE PSEUDODEFICIENCY, SEVERE

Asparaginase hypersensitivity in acute lymphoblastic leukemia

Asparagine synthetase deficiency

Aspartate aminotransferase

ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS

Aspartate Aminotransferases

ASPARTYLGLUCOSAMINURIA

Aspartylglucosaminuria (AGU)

ASPARTYLGLUCOSAMINURIA, FINNISH TYPE

Aspartylglycosaminuria

Asperger

Asperger disorder

Asperger syndrome X-linked 1

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2

Aspergillosis, susceptibility to

ASPHYXIATING THORACIC DYSTROPHY 2

ASPHYXIATING THORACIC DYSTROPHY 4

Asphyxiating thoracic dystrophy 5

Asphyxiating thoracic dystrophy type 3 (ATD3)

Aspirin exacerbated respiratory disease in asthmatics

Aspirin hydrolysis (plasma)

ASPLENIA, ISOLATED CONGENITAL

Asthma

Asthma (bronchodilator response)

Asthma (childhood onset)

Asthma (childhood, severe)

Asthma (toluene diisocyanate-induced)

Asthma and hay fever

ASTHMA, ATOPIC

Asthma, childhood, susceptibility to

ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE

ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO

ASTHMA, SUSCEPTIBILITY TO

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7

ASTHMAND ATOPY, SUSCEPTIBILITY TO

ASTHMSUSCEPTIBILITY 2

Astrocytoma, low-grade, somatic

Ataxia

Ataxia - hypogonadism - choroidal dystrophy

Ataxia - oculomotor apraxia type 1

Ataxia and polyneuropathy, adult-onset

Ataxia and retinitis pigmentosa with isolated vitamin e deficiency

Ataxia with isolated vitamin E deficiency

Ataxia with Oculomotor Apraxia 1

Ataxia with vitamin E deficiency

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIAND HYPOALBUMINEMIA

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIAND HYPOALBUMINEMIA;

Ataxia, Friedreich-like, with isolated vitamin E deficiency

Ataxia, posterior column, with retinitis pigmentosa

Ataxia, progressive seizures, mental deterioration, and hearing loss

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT

Ataxia, sensory, autosomal dominant

Ataxia, spastic, 4, autosomal recessive

Ataxia, spastic, 5, autosomal recessive

ATAXIA-OCULOMOTOR APRAXI3 (1 family)

Ataxia-oculomotor apraxia 3

Ataxia-oculomotor apraxia syndrome

ATAXIA-TELANGIECTASIA

Ataxia-telangiectasia syndrome

ATAXIA-TELANGIECTASIA-LIKE DISORDER

ATAXIA-TELANGIECTASIVARIANT

ATAXIA-TELANGIECTASIWITHOUT IMMUNODEFICIENCY

Ateleiotic dwarfism

Atelosteogenesis 2

Atelosteogenesis 3

Atelosteogenesis type 1

Atelosteogenesis type 1 (AO1)

Atelosteogenesis type 2

Atelosteogenesis type 2 (AO2)

Atelosteogenesis type 3

Atelosteogenesis type 3 (AO3)

Atelosteogenesis type II

Atelosteogenesis type III

ATELOSTEOGENESIS, TYPE I

ATELOSTEOGENESIS, TYPE II

ATELOSTEOGENESIS, TYPE III

Athabaskan brainstem dysgenesis

ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME

Athabaskan brainstem dysgenesis syndrome (ABSD)

ATHEROSCLEROSIS, SUSCEPTIBILITY TO

Athyreosis

ATOPIC ASTHMA, SUSCEPTIBILITY TO

Atopic dermatitis

Atopy

ATOPY, RESISTANCE TO

ATOPY, SUSCEPTIBILITY TO

ATP SYNTHASE 6

ATP SYNTHASE 8

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1

ATP8B1-Related Intrahepatic Cholestasis

ATR-X syndrome

ATRANSFERRINEMIA

Atrial fibrillation

ATRIAL FIBRILLATION 16

ATRIAL FIBRILLATION, FAMILIAL, 10

ATRIAL FIBRILLATION, FAMILIAL, 11

ATRIAL FIBRILLATION, FAMILIAL, 12

Atrial fibrillation, familial, 13

Atrial fibrillation, familial, 14

ATRIAL FIBRILLATION, FAMILIAL, 3

ATRIAL FIBRILLATION, FAMILIAL, 4

ATRIAL FIBRILLATION, FAMILIAL, 6

ATRIAL FIBRILLATION, FAMILIAL, 7

ATRIAL FIBRILLATION, FAMILIAL, 9

ATRIAL FIBRILLATION, SOMATIC

Atrial fibrillation/atrial flutter

Atrial myxoma, familial

Atrial Natriuretic Factor

Atrial septal defect

Atrial septal defect - atrioventricular conduction defects

ATRIAL SEPTAL DEFECT 2

ATRIAL SEPTAL DEFECT 3

ATRIAL SEPTAL DEFECT 4

ATRIAL SEPTAL DEFECT 5

ATRIAL SEPTAL DEFECT 6

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

Atrial septal defect 7, with or without atrioventricular conduction defects

ATRIAL SEPTAL DEFECT 8

Atrial septal defect 9

Atrial septal defect type 2 (ASD2)

Atrial septal defect type 3 (ASD3)

Atrial septal defect type 4 (ASD4)

Atrial septal defect type 5 (ASD5)

Atrial septal defect type 6 (ASD6)

Atrial septal defect with atrioventricular conduction defects (ASD-AVCD)

Atrial septal defect, ostium primum type

Atrial septal defect, ostium secundum type

Atrial septal defect, sinus venosus type

Atrial standstill

ATRIAL STANDSTILL 1

ATRIAL STANDSTILL 1, DIGENIC

ATRICHIWITH PAPULAR LESIONS

Atrioventricular block

Atrioventricular conduction

Atrioventricular septal defect 2

ATRIOVENTRICULAR SEPTAL DEFECT 3

ATRIOVENTRICULAR SEPTAL DEFECT 4

Atrioventricular septal defect 5

Atrioventricular septal defect and common atrioventricular junction

ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME

ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC

ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2

Atrophia bulborum hereditaria

Atrophoderma vermiculatum

Attention Deficit Disorder with Hyperactivity

Attention deficit hyperactivity disorder

Attention deficit hyperactivity disorder (combined symptoms)

Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)

Attention deficit hyperactivity disorder (inattention symptoms)

Attention deficit hyperactivity disorder (time to onset)

Attention deficit hyperactivity disorder and conduct disorder

Attention deficit hyperactivity disorder motor coordination

Attention deficit hyperactivity disorder symptoms (interaction)

Attention deficit-hyperactivity disorder 7

ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7

ATTENUATED CHEDIAK-HIGASHI SYNDROME

Atypical chronic myeloid leukemia

Atypical dentin dysplasia due to SMOC2 deficiency

Atypical dominant Fanconi syndrome with MODY

Atypical Gaucher disease due to saposin C deficiency

Atypical glycine encephalopathy

Atypical hemolytic uremic syndrome with B factor anomaly

Atypical hemolytic uremic syndrome with C3 anomaly

Atypical hemolytic uremic syndrome with H factor anomaly

Atypical hemolytic uremic syndrome with I factor anomaly

Atypical hemolytic uremic syndrome with MCP/CD46 anomaly

Atypical hemolytic uremic syndrome with thrombomodulin anomaly

Atypical hemolytic-uremic syndrome

Atypical hemolytic-uremic syndrome 1

Atypical hemolytic-uremic syndrome 2

Atypical hemolytic-uremic syndrome 3

Atypical hemolytic-uremic syndrome 4

Atypical hemolytic-uremic syndrome 5

Atypical hemolytic-uremic syndrome 6

Atypical hemolytic-uremic syndrome with anti-factor H antibodies

Atypical hemolytic-uremic syndrome with DGKE deficiency

Atypical hypotonia - cystinuria syndrome

Atypical juvenile parkinsonism

Atypical Krabbe disease

Atypical Mayer-Rokitansky-Kuster-Hauser syndrome

ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED FAMILIAL

ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED

ATYPICAL MYCOBACTERIOSIS, FAMILIAL

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1

ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2

Atypical Noonan syndrome

Atypical pantothenate kinase associated neurodegeneration

Atypical Rett syndrome

Atypical teratoid rhabdoid tumor

Atypical Werner syndrome

AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)

Audiometry, Pure-Tone

Auditory neuropathy

AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1

Aural atresia, congenital

AURICULOCONDYLAR SYNDROME

AURICULOCONDYLAR SYNDROME 1

AURICULOCONDYLAR SYNDROME 2

AUTISM

Autism 1

Autism 10

Autism 15

Autism 16

Autism 9

Autism or Intellectual disability

Autism spectrum disorder due to AUTS2 deficiency

Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Autism Spectrum Disorders

AUTISM, SUSCEPTIBILITY TO, 15

AUTISM, SUSCEPTIBILITY TO, 16

AUTISM, SUSCEPTIBILITY TO, 17

AUTISM, SUSCEPTIBILITY TO, 18

AUTISM, SUSCEPTIBILITY TO, 19

AUTISM, SUSCEPTIBILITY TO, X-LINKED 1

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2

AUTISM, SUSCEPTIBILITY TO, X-LINKED 3

AUTISM, SUSCEPTIBILITY TO, X-LINKED 5

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autism/ID

Autistic disorder of childhood onset

AUTOIMMUNE DISEASE

Autoimmune disease 6

AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1

AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6

AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Autoimmune lymphoproliferative syndrome 1A

Autoimmune lymphoproliferative syndrome 2A

Autoimmune lymphoproliferative syndrome with recurrent viral infections

Autoimmune lymphoproliferative syndrome, type 1a

Autoimmune lymphoproliferative syndrome, type 1b

Autoimmune lymphoproliferative syndrome, type 2

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV

Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia

AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE

Autoimmune Polyendocrinopathy Syndrome Type 1

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT

Autoimmune polyendocrinopathy type 1

Autoimmune polyglandular syndrome type 1, autosomal dominant

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia

Autoimmune thyroid disease 3

AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3

Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated

AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;

AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal agammaglobulinemia

Autosomal codominant severe lipodystrophic laminopathy

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant beta2-microglobulinic amyloidosis

Autosomal dominant brachyolmia

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency

Autosomal dominant centronuclear myopathy

Autosomal dominant cerebellar ataxia, deafness and narcolepsy

Autosomal dominant cervical dystonia

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant Charcot-Marie-Tooth disease type 2P

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Autosomal dominant childhood-onset cortical cataract

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant cutis laxa

Autosomal dominant distal renal tubular acidosis

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant epilepsy with auditory features

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Autosomal dominant focal dystonia, DYT25

Autosomal dominant hyper IgE syndrome

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hypocalcemia

Autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant hypophosphatemic rickets

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant isolated somatotropin deficiency

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant keratitis

Autosomal dominant Larsen syndrome

Autosomal dominant Larsen syndrome (LRS1)

Autosomal dominant limb-girdle muscular dystrophy type 1A

Autosomal dominant limb-girdle muscular dystrophy type 1B

Autosomal dominant limb-girdle muscular dystrophy type 1C

Autosomal dominant limb-girdle muscular dystrophy type 1D

Autosomal dominant limb-girdle muscular dystrophy type 1E

Autosomal dominant limb-girdle muscular dystrophy type 1F

Autosomal dominant macrothrombocytopenia

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant methemoglobinemia

Autosomal dominant microcephaly

Autosomal dominant neovascular inflammatory vitreoretinopathy

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant nonsyndromic sensorineural deafness type DFNA

Autosomal dominant oculodentodigital dysplasia

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic type

Autosomal dominant osteopetrosis type 1

Autosomal dominant osteosclerosis, Worth type

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant progressive external ophthalmoplegia

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNdeletions 1

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNdeletions 2

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNdeletions 3

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNdeletions 4

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNdeletions 5

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant Robinow syndrome

Autosomal dominant secondary polycythemia

Autosomal dominant severe congenital neutropenia

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant spastic ataxia 1

Autosomal dominant spastic paraplegia type 10

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 13

Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 3

Autosomal dominant spastic paraplegia type 31

Autosomal dominant spastic paraplegia type 4

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 6

Autosomal dominant spastic paraplegia type 8

Autosomal dominant spondylocostal dysostosis

Autosomal dominant striatal neurodegeneration

Autosomal dominant vitreoretinochoroidopathy

Autosomal recessive Alport syndrome

Autosomal recessive ataxia due to PEX10 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia, Beauce type

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive bestrophinopathy

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability

Autosomal recessive cerebellar ataxia - psychomotor retardation

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebral atrophy

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive childhood-onset cortical cataract

Autosomal recessive chorioretinopathy - microcephaly

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive congenital ichthyosis 1

Autosomal recessive congenital ichthyosis 2

Autosomal recessive congenital ichthyosis 3

Autosomal recessive congenital ichthyosis 4A

Autosomal recessive congenital ichthyosis 4B

Autosomal recessive congenital ichthyosis 5

Autosomal recessive congenital ichthyosis 6

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 1B

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2B

Autosomal recessive cutis laxa type 3B

Autosomal recessive cutis laxa type IA

Autosomal recessive deafness-onychodystrophy syndrome

Autosomal recessive Dejerine-Sottas syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive early-onset inflammatory bowel disease

Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive epidermolysis bullosa simplex

Autosomal recessive hyper IgE syndrome

Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hypohidrotic ectodermal dysplasia

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Autosomal recessive hypophosphatemic bone disease

Autosomal recessive hypophosphatemic rickets

Autosomal recessive hypophosphatemic vitamin D refractory rickets

Autosomal recessive infantile epilepsy

Autosomal recessive infantile hypercalcemia

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive limb girdle muscular dystrophy type 2A

Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency

Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency

Autosomal recessive limb-girdle muscular dystrophy type 2B

Autosomal recessive limb-girdle muscular dystrophy type 2C

Autosomal recessive limb-girdle muscular dystrophy type 2D

Autosomal recessive limb-girdle muscular dystrophy type 2E

Autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal recessive limb-girdle muscular dystrophy type 2G

Autosomal recessive limb-girdle muscular dystrophy type 2H

Autosomal recessive limb-girdle muscular dystrophy type 2I

Autosomal recessive limb-girdle muscular dystrophy type 2J

Autosomal recessive limb-girdle muscular dystrophy type 2K

Autosomal recessive limb-girdle muscular dystrophy type 2L

Autosomal recessive limb-girdle muscular dystrophy type 2M

Autosomal recessive limb-girdle muscular dystrophy type 2N

Autosomal recessive limb-girdle muscular dystrophy type 2O

Autosomal recessive limb-girdle muscular dystrophy type 2P

Autosomal recessive limb-girdle muscular dystrophy type 2Q

Autosomal recessive limb-girdle muscular dystrophy type 2S

Autosomal recessive limb-girdle muscular dystrophy type 2T

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive lymphoproliferative disease

Autosomal recessive malignant osteopetrosis

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal Recessive Mental Retardation

Autosomal recessive multiple pterygium syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive nail dysplasia

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive nonsyndromic sensorineural deafness type DFNB

Autosomal recessive oculodentodigital dysplasia (ODDD autosomal recessive)

Autosomal recessive omodysplasia

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED)

Autosomal recessive polycystic kidney disease

Autosomal recessive primary microcephaly

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive Robinow syndrome

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Autosomal recessive spastic ataxia - optic atrophy - dysarthria

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 15

Autosomal recessive spastic paraplegia type 18

Autosomal recessive spastic paraplegia type 20

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 26

Autosomal recessive spastic paraplegia type 28

Autosomal recessive spastic paraplegia type 30

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 43

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 46

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 49

Autosomal recessive spastic paraplegia type 53

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 56

Autosomal recessive spastic paraplegia type 58

Autosomal recessive spastic paraplegia type 5A

Autosomal recessive spastic paraplegia type 63

Autosomal recessive spastic paraplegia type 69

Autosomal recessive spastic paraplegia type 7

Autosomal recessive spastic paraplegia type 70

Autosomal recessive spondylocostal dysostosis

Autosomal recessive Stickler syndrome

Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects

Autosomal recessive systemic lupus erythematosus

Autosomal thrombocytopenia with normal platelets

Autosomal- Recessive Intellectual Disability MRT5

Autosomal-Dominant Hypotrichosis Simplex

Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy

Autosomal-Recessive Cerebellar Ataxia with Spasticity.

Autosomal-Recessive Complete Congenital Stationary Night Blindness

Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY

Avellino corneal dystrophy

AXENFELD ANOMALY

AXENFELD-RIEGER ANOMALY

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1 (RIEG1)

Axenfeld-Rieger syndrome type 3

Axenfeld-Rieger syndrome type 3 (RIEG3)

AXENFELD-RIEGER SYNDROME, TYPE 1

AXENFELD-RIEGER SYNDROME, TYPE 3

Axial length

Axillary odor

AXIN2-related attenuated familial adenomatous polyposis

Top

B

B cell non-Hodgkin lymphoma

B-cell childhood acute lymphoblastic leukemia

B-cell chronic lymphocytic leukemia

B-CELL CLL/LYMPHOM2

B-cell non-Hodgkin lymphoma

B-CELL NON-HODGKIN LYMPHOMA, SOMATIC

B4GALT1-CDG syndrome

BACTEREMIA, RESISTANCE TO

BACTEREMIA, SUSCEPTIBILITY TO, 1

BACTEREMIA, SUSCEPTIBILITY TO, 2

BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3

BAINBRIDGE-ROPERS SYNDROME

BAK PLATELET-SPECIFIC ANTIGEN

BALLER-GEROLD SYNDROME

Baller-Gerold syndrome (BGS)

Bamforth syndrome

Bamforth-Lazarus syndrome

BAND 3 MEMPHIS

Band-like calcification with simplified gyration and polymicrogyria

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;

BANNAYAN-RILEY-RUVALCABSYNDROME

Bannayan-Zonana syndrome (BZS)

BAP1-related tumor predisposition syndrome

Baraitser-Winter syndrome

BARAITSER-WINTER SYNDROME 1

Baraitser-Winter Syndrome 2

Barakat syndrome

BARDET-BIEDL SYNDROME

BARDET-BIEDL SYNDROME 1

BARDET-BIEDL SYNDROME 1, MODIFIER OF

BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 11

BARDET-BIEDL SYNDROME 12

Bardet-Biedl syndrome 12, modifier of

BARDET-BIEDL SYNDROME 13

Bardet-Biedl syndrome 14

BARDET-BIEDL SYNDROME 14, MODIFIER OF

Bardet-Biedl syndrome 15

BARDET-BIEDL SYNDROME 17

BARDET-BIEDL SYNDROME 2

BARDET-BIEDL SYNDROME 3

BARDET-BIEDL SYNDROME 4

BARDET-BIEDL SYNDROME 5

BARDET-BIEDL SYNDROME 6

BARDET-BIEDL SYNDROME 7

BARDET-BIEDL SYNDROME 8

BARDET-BIEDL SYNDROME 9

Bardet-Biedl syndrome type 1 (BBS1)

Bardet-Biedl syndrome type 10 (BBS10)

Bardet-Biedl syndrome type 11 (BBS11)

Bardet-Biedl syndrome type 12 (BBS12)

Bardet-Biedl syndrome type 13 (BBS13)

Bardet-Biedl syndrome type 14 (BBS14)

Bardet-Biedl syndrome type 15 (BBS15)

Bardet-Biedl syndrome type 2 (BBS2)

Bardet-Biedl syndrome type 3 (BBS3)

Bardet-Biedl syndrome type 4 (BBS4)

Bardet-Biedl syndrome type 5 (BBS5)

Bardet-Biedl syndrome type 6 (BBS6)

Bardet-Biedl syndrome type 7 (BBS7)

Bardet-Biedl syndrome type 8 (BBS8)

Bardet-Biedl syndrome type 9 (BBS9)

Bardet-Biedl syndrome, modifier of

Bare lymphocyte syndrome type 2, complementation group A

Bare lymphocyte syndrome type 2, complementation group E

BARE LYMPHOCYTE SYNDROME, TYPE I

BARE LYMPHOCYTE SYNDROME, TYPE II

BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B

BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D

Barraquer-Simons syndrome (BaSiS)

BARRETT ESOPHAGUS

BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA

Barrett's esophagus

Bart-Pumphrey syndrome

BARTH SYNDROME

Bartsocas-Papas syndrome

Bartter syndrome 2

Bartter syndrome 4A

Bartter syndrome antenatal type 1

Bartter syndrome antenatal type 2

Bartter syndrome type 3

Bartter syndrome type 4

Bartter syndrome type 4A

Bartter syndrome type 4B

Bartter syndrome with hypocalcemia

BARTTER SYNDROME, ANTENATAL, TYPE 1

BARTTER SYNDROME, ANTENATAL, TYPE 2

BARTTER SYNDROME, TYPE 3

BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA

BARTTER SYNDROME, TYPE 4A

BARTTER SYNDROME, TYPE 4B

Basal cell carcinoma

BASAL CELL CARCINOMA, SOMATIC

BASAL CELL CARCINOMA, SPORADIC

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7

BASAL CELL NEVUS SYNDROME

Basal ganglia disease, biotin-responsive

BASAL GANGLICALCIFICATION, IDIOPATHIC, 1

BASAL GANGLICALCIFICATION, IDIOPATHIC, 3

BASAL GANGLICALCIFICATION, IDIOPATHIC, 4

BASAL GANGLICALCIFICATION, IDIOPATHIC, 5

BASAL LAMINAR DRUSEN

Basophils

Bathing suit ichthyosis

BCG INFECTION, TUBERCULOID, ANTIBIOTIC-RESPONSIVE

BCHE*390V

BCHE, dibucaine-resistant i

BCHE, FLUORIDE 1

BCHE, FLUORIDE 2

BCHE, FLUORIDE-RESISTANT II

BCHE, J VARIANT

BCHE, K VARIANT

Bche, quantitative j variant

Beaded hair

Beare-Stevenson cutis gyrata syndrome (BSCGS)

BEARE-STEVENSON CUTIS GYRATSYNDROME

BEAULIEU-BOYCOTT-INNES SYNDROME

BECKER MUSCULAR DYSTROPHY

Becker muscular dystrophy (BMD)

BECKWITH-WIEDEMANN SYNDROME

Beckwith-Wiedemann syndrome (BWS)

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Beckwith-Wiedemann syndrome due to NSD1 mutation

Behavioral variant of frontotemporal dementia

Behavioural disinhibition (generation interaction)

Behavioural/Psychiatric Abnormality

Behcet disease

Behcet Syndrome

Behcet's disease

Benign adult familial myoclonic epilepsy

BENIGN CHRONIC PEMPHIGUS

Benign essential blepharospasm

Benign familial chorea

Benign familial hematuria

Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Benign Familial Neonatal Infantile Seizures

Benign familial neonatal seizures

Benign familial neonatal seizures 1

Benign familial neonatal seizures 2

Benign familial neonatal-infantile seizures

Benign hereditary chorea

Benign neonatal epilepsy type 1 (EBN1)

Benign paroxysmal torticollis of infancy

Benign recurrent intrahepatic cholestasis 1

Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 2

Benign Samaritan congenital myopathy

Benign scapuloperoneal muscular dystrophy with cardiomyopathy

BENT BONE DYSPLASISYNDROME

BENZENE TOXICITY, SUSCEPTIBILITY TO

Berardinelli-Seip congenital lipodystrophy

Berger disease

BERNARD SOULIER SYNDROME, TYPE B

Bernard-Soulier syndrome

Bernard-Soulier syndrome type C

BERNARD-SOULIER SYNDROME, TYPE A1

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT

Bernard-Soulier syndrome, type B

BERNARD-SOULIER SYNDROME, TYPE C

Beryllium disease, chronic, susceptibility to

BEST MACULAR DYSTROPHY

Best vitelliform macular dystrophy, multifocal

BESTROPHINOPATHY

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

Beta Thalassemia

Beta thalassemia intermedia

Beta thalassemia major

Beta thalassemia/hemoglobin E disease

Beta-2 microglubulin plasma levels

BETA-2-ADRENERGIC RECEPTOR

BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO

Beta-2-Glycoprotein I (beta-2-GPI) plasma levels

Beta-D-mannosidosis

Beta-e-thalassemia

BETA-GLYCOPYRANOSIDE TASTING

BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF

Beta-houston-thalassemia

BETA-HYDROXYISOBUTYRYL CoDEACYLASE DEFICIENCY

Beta-hydroxyisobutyryl-Codeacylase deficiency

Beta-knossos-thalassemia

Beta-malay-thalassemia

BETA-MANNOSIDOSIS

BETA-PLUS-THALASSEMIA

BETA-PLUS-THALASSEMIA, DOMINANT

Beta-propeller protein-associated neurodegeneration

Beta-showa-yakushiji thalassemia

BETA-THALASSEMIA

Beta-thalassemia - X-linked thrombocytopenia

Beta-thalassemia dominant

Beta-thalassemia major

BETA-THALASSEMIA, DOMINANT

BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE

Beta-thalassemia, lermontov type

BETA-THALASSEMIINTERMEDIA

BETA-THALASSEMIINTERMEDIA, DOMINANT

Beta-trace protein levels

BETA-UREIDOPROPIONASE DEFICIENCY

BETA-ZERO-THALASSEMIA

BETHLEM MYOPATHY

BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE

BF*FA/S

BH4-Deficient Hyperphenylalaninemia C

Bicuspid aortic valve

BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome

BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY

Bietti crystalline dystrophy

BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES

Bifid nose, with or without anorectal and renal anomalies

Bifunctional enzyme deficiency

Bifunctional peroxisomal enzyme deficiency

Bilateral cleft lip and palate

Bilateral cleft palate

Bilateral diffuse polymicrogyria

Bilateral frontoparietal polymicrogyria

Bilateral generalized polymicrogyria

Bilateral microphthalmos

Bilateral microtia - deafness - cleft palate

Bilateral optic nerve hypoplasia (BONH)

Bilateral parasagittal parieto-occipital polymicrogyria

Bilateral perisylvian polymicrogyria

Bilateral perisylvian polymicrogyria (BPP)

Bilateral renal agenesis

Bilateral renal dysplasia

Bilateral right-sidedness sequence

Bilateral sensorineural hearing impairment

Bilateral striopallidodentate calcinosis

BILE ACID MALABSORPTION, PRIMARY

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

Biliary atresia

Biliary atresia with splenic malformation syndrome

Bilineal acute leukemia

Bilirubin

Bilirubin levels

BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1

Biochemical measures

Biomedical quantitative traits

Biotin-responsive basal ganglia disease

BIOTINIDASE DEFICIENCY

BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO

Bipolar disorder

Bipolar disorder (age of onset and psychomotor symptoms)

Bipolar disorder (body mass index interaction)

Bipolar disorder (mania)

Bipolar disorder (mood-incongruent)

Bipolar disorder and major depressive disorder (combined)

Bipolar disorder and schizophrenia

Bipolar I disorder

Birbeck granule deficiency

Birdshot chorioretinopathy

Birk Barel mental retardation dysmorphism syndrome

BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME

BIRK-BAREL SYNDROME

Birk-Barel syndrome (BIBAS)

BIRT-HOGG-DUBE SYNDROME

Birth weight

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY

Bitter taste perception

Bitter taste response

BJORNSTAD SYNDROME

BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY

Black vs. blond hair color

Black vs. red hair color

Blackfan-Diamond anemia

BLADDER CANCER

BLADDER CANCER, TRANSITIONAL CELL, SOMATIC

Bladder exstrophy

BLAU SYNDROME

Bleeding diathesis due to glycoprotein VI deficiency

Bleeding diathesis due to thromboxane synthesis deficiency

Bleeding disorder platelet-type 13

BLEEDING DISORDER, PLATELET-TYPE, 11

BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO

BLEEDING DISORDER, PLATELET-TYPE, 15

BLEEDING DISORDER, PLATELET-TYPE, 16

BLEEDING DISORDER, PLATELET-TYPE, 17

BLEEDING DISORDER, PLATELET-TYPE, 8

BLEOMYCIN HYDROLASE POLYMORPHISM

Bleomycin sensitivity

Blepharophimosis

Blepharophimosis - epicanthus inversus - ptosis due to a point mutation

Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS

Blepharophimosis, ptosis, and epicanthus inversus syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME

Blepharophimosis- mental retardation

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME

Blepharophimosis/intellectual disability phenotype which is Noonan-like

BLEPHAROSPASM, BENIGN ESSENTIAL

Blindness

Blond vs. brown hair color

Blood Cells

Blood Coagulation Factors

Blood Flow Velocity

BLOOD GROUP A2

BLOOD GROUP B(A)

BLOOD GROUP CIS-AB

BLOOD GROUP ERIK

BLOOD GROUP SYSTEM, LANDSTEINER-WIENER

BLOOD GROUP, CHIDO/RODGERS SYSTEM

BLOOD GROUP, CROMER SYSTEM

BLOOD GROUP, DUFFY SYSTEM

BLOOD GROUP, GLOBOSIDE SYSTEM

BLOOD GROUP, I SYSTEM

BLOOD GROUP, INDIAN SYSTEM

BLOOD GROUP, JOHN MILTON HAGEN SYSTEM

BLOOD GROUP, JUNIOR SYSTEM

BLOOD GROUP, LANGEREIS SYSTEM

BLOOD GROUP, P1PK SYSTEM

BLOOD GROUP, VEL SYSTEM

BLOOD GROUP, XG SYSTEM

BLOOD GROUP--COLTON

BLOOD GROUP--DIEGO SYSTEM

BLOOD GROUP--FROESE

BLOOD GROUP--GERBICH

BLOOD GROUP--KELL SYSTEM

BLOOD GROUP--KIDD SYSTEM

BLOOD GROUP--LUTHERAN INHIBITOR

BLOOD GROUP--LUTHERAN NULL

BLOOD GROUP--LUTHERAN SYSTEM

BLOOD GROUP--MN LOCUS

BLOOD GROUP--OK

BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE

BLOOD GROUP--SCIANNSYSTEM

BLOOD GROUP--Ss LOCUS

BLOOD GROUP--SWANN SYSTEM

BLOOD GROUP--WALDNER TYPE

BLOOD GROUP--WEBB ANTIGEN WB

BLOOD GROUP--WRIGHT ANTIGEN

Blood pressure

Blood Pressure Determination

Blood pressure measurement (cold pressor test)

Blood pressure measurement (high sodium and potassium intervention)

Blood pressure measurement (high sodium intervention)

Blood pressure measurement (low sodium intervention)

Blood Proteins

Blood trace element (Cu levels)

Blood trace element (Se levels)

Blood trace element (Zn levels)

Blood Vessels

Blood Viscosity

BLOOM SYNDROME

BLUE CONE MONOCHROMACY

Blue cone monochromatism

Blue sclerae

Blue vs. brown eyes

Blue vs. green eyes

BMI

BNAR syndrome

Body Composition

Body Fat Distribution

Body Height

Body mass (lean)

Body mass in chronic obstructive pulmonary disease

BODY MASS INDEX

Body mass index (asthmatics)

Body mass index (education interaction)

Body mass index (interaction)

Body mass index (non-asthmatics)

Body mass index and cholesterol (psychopharmacological treatment)

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9

Body mass index, modifier of

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Body Weight

Body Weight Changes

Body Weights and Measures

Boerjeson-Forssman-Lehmann syndrome (BFLS)

Bohring-Opitz syndrome

BOMBAY PHENOTYPE

Bone Density

Bone fragility with contractures, arterial rupture, and deafness

BONE MARROW FAILURE SYNDROME 1

Bone marrow failure syndrome 2

BONE MARROW FAILURE, FAMILIAL

BONE MARROW FAILURE, TELOMERE-RELATED, 1

Bone mineral density

Bone mineral density (hip)

Bone mineral density (spine)

Bone mineral density (wrist)

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12

Bone mineral density quantitative trait locus 15

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18

BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS

BOOMERANG DYSPLASIA

Boomerang dysplasia (BOOMD)

BOR syndrome

Borderline personality disorder features

BORJESON-FORSSMAN-LEHMANN SYNDROME

Borrone Di Rocco Crovato syndrome

Bosch-Boonstra optic atrophy syndrome

BOSLEY-SALIH-ALORAINY SYNDROME

Bosley-Salih-Alorainy syndrome (BSAS)

BOTHNIRETINAL DYSTROPHY

BOWEN-CONRADI SYNDROME

Brachial circumference

Brachycephaly

Brachydactyly - elbow wrist dysplasia

Brachydactyly A2

Brachydactyly B2

Brachydactyly C

Brachydactyly D

Brachydactyly E1

Brachydactyly syndrome

Brachydactyly type A1

Brachydactyly type A1 (BDA1)

Brachydactyly type A2

Brachydactyly type A2 (BDA2)

Brachydactyly type B

Brachydactyly type B1

Brachydactyly type B2

Brachydactyly type B2 (BDB2)

Brachydactyly type C

Brachydactyly type C (BDC)

Brachydactyly type D

Brachydactyly type D (BDD)

Brachydactyly type E

Brachydactyly type E (BDE1)

Brachydactyly type E1

Brachydactyly type E2

Brachydactyly, type A1

BRACHYDACTYLY, TYPE A1, C

BRACHYDACTYLY, TYPE A2

BRACHYDACTYLY, TYPE B1

BRACHYDACTYLY, TYPE B2

BRACHYDACTYLY, TYPE C

BRACHYDACTYLY, TYPE D

BRACHYDACTYLY, TYPE E

BRACHYDACTYLY, TYPE E1

Brachydactyly, type E2

BRACHYDACTYLY-MENTAL RETARDATION SYNDROME

Brachydactyly-mental retardation syndrome (BDMR)

BRACHYDACTYLY-SYNDACTYLY SYNDROME

Brachydactyly-syndactyly syndrome (BDSD)

Brachydactyly-syndactyly, Zhao type

Brachyolmia type 1, Toledo type

BRACHYOLMITYPE 3

BRACHYOLMITYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES

Brachyrachia (short spine dysplasia)

Brachytelephalangic chondrodysplasia punctata

BRADYOPSIA

Brain

Brain connectivity

Brain cytoarchitecture

Brain demyelination due to methionine adenosyltransferase deficiency

Brain dopamine-serotonin vesicular transport disease

Brain imaging

Brain imaging in schizophrenia (interaction)

Brain lesion load

Brain pseudoatrophy, reversible, valproate-induced, susceptibility to

BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY

BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE

Brain structure

Brain structure (hippocampal volume)

Brain structure (temporal lobe volume)

Brain tumor-polyposis syndrome 2

Brain-lung-thyroid syndrome

BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY

Branchial anomaly

Branchio-oculo-facial syndrome

Branchio-otic syndrome

BRANCHIOOCULOFACIAL SYNDROME

Branchiootic syndrome

BRANCHIOOTIC SYNDROME 1

BRANCHIOOTIC SYNDROME 3

Branchiootic syndrome type 3 (BOS3)

BRANCHIOOTORENAL SYNDROME 1

BRANCHIOOTORENAL SYNDROME 2

Branchiootorenal syndrome type 1 (BOR1)

Branchiootorenal syndrome type 2

BRANCHIOOTORENAL SYNDROME WITH CATARACT

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer

Breast adenocarcinoma

BREAST ADENOCARCINOMA, SOMATIC

BREAST CANCER

Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)

Breast cancer (male)

Breast cancer (menopausal hormone therapy interaction)

Breast cancer (prognosis)

Breast cancer (survival)

Breast Cancer in BRCA1 mutation carriers

Breast cancer in BRCA2 mutation carriers

Breast cancer sample

BREAST CANCER, EARLY-ONSET

BREAST CANCER, INVASIVE DUCTAL

Breast cancer, invasive, susceptibility to

BREAST CANCER, LOBULAR, SOMATIC

Breast cancer, post-chemotherapy poor survival in

BREAST CANCER, PROTECTION AGAINST

BREAST CANCER, SOMATIC

BREAST CANCER, SUSCEPTIBILITY TO

Breast Neoplasms

Breast size

Breast tumor

Breast-ovarian cancer, familial 1

Breast-ovarian cancer, familial 2

Breast-ovarian cancer, familial 3

Breast-ovarian cancer, familial 4

Breast-ovarian cancer, familial, 1

Breast-ovarian cancer, familial, 3

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4

BRESEK syndrome

British hpfh

Brittle cornea syndrome

BRITTLE CORNESYNDROME 1

BRITTLE CORNESYNDROME 2

BRODY MYOPATHY

Bronchiectasis

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

Bronchiectasis with or without elevated sweat chloride 1, modifier of

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3

Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)

Bronchopulmonary dysplasia

BROOKE-SPIEGLER SYNDROME

Brown-Vialetto-Van laere syndrome

BROWN-VIALETTO-VAN LAERE SYNDROME 1

BROWN-VIALETTO-VAN LAERE SYNDROME 2

Bruck syndrome

Bruck syndrome 1

BRUCK SYNDROME 2

Bruck syndrome type 2

BRUGADSYNDROME

BRUGADSYNDROME 1

BRUGADSYNDROME 2

BRUGADSYNDROME 3

BRUGADSYNDROME 4

BRUGADSYNDROME 5

BRUGADSYNDROME 6

BRUGADSYNDROME 6 (1 family)

BRUGADSYNDROME 7

BRUGADSYNDROME 8

BRUNNER SYNDROME

Brunner syndrome (BRUNS)

BUDD-CHIARI SYNDROME

Budd-Chiari syndrome, susceptibility to

Budd-Chiari syndrome, susceptibility to, somatic

Bulbar palsy

Bulbous nose

Bulimia nervosa

Bulimia nervosa 2

BULIMINERVOSA, SUSCEPTIBILITY TO, 2

Bullous diffuse cutaneous mastocytosis

Bullous ichthyosiform erythroderma

Bullous pemphigoid

Bulls eye macular dystrophy

Bulls eye maculopathy

BURKITT LYMPHOMA

Burkitt lymphoma cell line

Burning and freckling

BURULI ULCER, SUSCEPTIBILITY TO

Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome (BOS)

Butterfly-shaped pigment dystrophy

BUTYRYLCHOLINESTERASE

BUTYRYLCHOLINESTERASE DEFICIENCY

Butyrylcholinesterase deficiency, fluoride 1

BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE

Butyrylcholinesterase levels

Top

C

C SYNDROME

C-like syndrome

C-reactive protein

C-reactive protein and white blood cell count

C1q DEFICIENCY

C1s DEFICIENCY

C3 glomerulonephritis

C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE

C3HEX, ABILITY TO SMELL

C3S/C3F POLYMORPHISM

C4b binding protein levels

C6 A/B POLYMORPHISM

C7 and c6 deficiency, combined subtotal

C7 DEFICIENCY

C9 DEFICIENCY

Ca/Tu ALLOANTIGEN POLYMORPHISM

Cabezas syndrome

CADASIL syndrome

CADDS

Cafe-au-lait macules with pulmonary stenosis

Cafe-au-lait spot

Caffeine consumption

CAFFEY DISEASE

CALCIFICATION OF JOINTS AND ARTERIES

Calcium

Calcium levels

Calcium oxalate urolithiasis

CALCIUM, SERUM LEVEL OF

Calcium-Binding Proteins

CALCIUM-SENSING RECEPTOR

Callous-unemotional behaviour

CAMOS syndrome

CAMPOMELIC DYSPLASIA

CAMPOMELIC DYSPLASIWITH AUTOSOMAL SEX REVERSAL

Camptodactyly - tall stature - scoliosis - hearing loss

Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome)

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

CAMPTODACTYLY-ARTHROPATHY-COXVARA-PERICARDITIS SYNDROME

Camptomelic dysplasia

CAMURATI-ENGELMANN DISEASE

Camurati-Engelmann disease (CE)

CANAVAN DISEASE

CANAVAN DISEASE, MILD

Cancer

Cancer cell line

Cancer of multiple types, susceptibility to

CANCER PROGRESSION AND TUMOR CELL MOTILITY

CANDIDIASIS, FAMILIAL, 2

CANDIDIASIS, FAMILIAL, 4

CANDIDIASIS, FAMILIAL, 5

CANDIDIASIS, FAMILIAL, 6

CANDIDIASIS, FAMILIAL, 7

CANDIDIASIS, FAMILIAL, 8

CANDIDIASIS, FAMILIAL, 8 (1 family)

CANDLE syndrome

Cannabis dependence

Cannabis use (initiation)

CANTU SYNDROME

Cantu syndrome HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA

Cap myopathy

Cap myopathy 1

Cap myopathy 2

Capecitabine sensitivity

CAPICUA, DROSOPHILA, HOMOLOG OF

Capillary malformation - arteriovenous malformation

CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION

Capillary malformation-arteriovenous malformation (CMAVM)

CAPILLARY MALFORMATIONS, CONGENITAL

Capillary malformations, congenital, 1

CARASIL syndrome

Carbamazepine hypersensitivity

Carbamoyl phosphate synthetase 1 deficiency

Carbamoyl phosphate synthetase 1 deficiency (CPS1D)

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIDUE TO

Carbamoylphosphate synthetase deficiency

Carbohydrate-deficient glycoprotein syndrome type I

Carbohydrate-deficient glycoprotein syndrome type II

CARBONIC ANHYDRASE I DEFICIENCY

CARBONIC ANHYDRASE I, GUAM

CARBONIC ANHYDRASE II VARIANT

CARBONIC ANHYDRASE VDEFICIENCY, HYPERAMMONEMIA DUE TO

CARBOXYLESTERASE 1

CARBOXYLESTERASE 1 DEFICIENCY

CARBOXYPEPTIDASE N DEFICIENCY

Carcinoid tumor and carcinoid syndrome

Carcinoid tumor of intestine

CARCINOID TUMORS, INTESTINAL

Carcinoma of cervix

Carcinoma of colon

Carcinoma of pancreas

Carcinoma, adrenocortical, androgen-secreting

CARD11 IMMUNODEFICIENCY

Cardiac anomalies-developmental delay-facial dysmorphism syndrome

Cardiac arrhythmia

Cardiac arrhythmia, ankyrin B-related

CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED

CARDIAC CONDUCTION DEFECT

CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO

Cardiac hypertrophy

Cardiac muscle measurement

Cardiac repolarization

Cardiac structure and function

Cardiac Troponin-T levels

Cardiac valvular dysplasia X-linked (CVDX)

CARDIAC VALVULAR DYSPLASIA, X-LINKED

Cardio-facio-cutaneous syndrome

Cardiodysrhythmic potassium-sensitive periodic paralysis

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

CARDIOFACIOCUTANEOUS SYNDROME

Cardiofaciocutaneous syndrome (CFC syndrome)

CARDIOFACIOCUTANEOUS SYNDROME 1

CARDIOFACIOCUTANEOUS SYNDROME 2

CARDIOFACIOCUTANEOUS SYNDROME 3

CARDIOFACIOCUTANEOUS SYNDROME 4

Cardiomegaly

Cardiomyopathy

Cardiomyopathy - hypotonia - lactic acidosis

Cardiomyopathy and Deafness

Cardiomyopathy dilated type 1(CMD1A)

Cardiomyopathy dilated type 1C (CMD1C)

Cardiomyopathy dilated type 1EE (CMD1EE)

Cardiomyopathy dilated type 1R (CMD1R)

Cardiomyopathy dilated type 1X (CMD1X)

Cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH)

Cardiomyopathy dilated with woolly hair and keratoderma

Cardiomyopathy dilated X-linked type 3B (CMD3B)

Cardiomyopathy familial hypertrophic type 11 (CMH11)

Cardiomyopathy familial hypertrophic type 14 (CMH14)

CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY

Cardiomyopathy, apical hypertrophic, and neuropathy

Cardiomyopathy, dilated 1A

Cardiomyopathy, dilated 1AA

Cardiomyopathy, dilated 1C

Cardiomyopathy, dilated 1DD

Cardiomyopathy, dilated 1EE

Cardiomyopathy, dilated 1I

Cardiomyopathy, dilated 1KK

Cardiomyopathy, dilated 1M

Cardiomyopathy, dilated 1T

CARDIOMYOPATHY, DILATED, 1A

CARDIOMYOPATHY, DILATED, 1A(1 family)

CARDIOMYOPATHY, DILATED, 1AA

CARDIOMYOPATHY, DILATED, 1BB

Cardiomyopathy, dilated, 1bb, susceptibility to

CARDIOMYOPATHY, DILATED, 1C

CARDIOMYOPATHY, DILATED, 1CC

CARDIOMYOPATHY, DILATED, 1D

CARDIOMYOPATHY, DILATED, 1DD

CARDIOMYOPATHY, DILATED, 1E

CARDIOMYOPATHY, DILATED, 1EE

CARDIOMYOPATHY, DILATED, 1FF

CARDIOMYOPATHY, DILATED, 1G

CARDIOMYOPATHY, DILATED, 1GG

CARDIOMYOPATHY, DILATED, 1HH

CARDIOMYOPATHY, DILATED, 1I

CARDIOMYOPATHY, DILATED, 1II

CARDIOMYOPATHY, DILATED, 1J

CARDIOMYOPATHY, DILATED, 1JJ

CARDIOMYOPATHY, DILATED, 1KK

CARDIOMYOPATHY, DILATED, 1L

CARDIOMYOPATHY, DILATED, 1M

CARDIOMYOPATHY, DILATED, 1MM

CARDIOMYOPATHY, DILATED, 1N

CARDIOMYOPATHY, DILATED, 1O

CARDIOMYOPATHY, DILATED, 1P

CARDIOMYOPATHY, DILATED, 1R

CARDIOMYOPATHY, DILATED, 1S

CARDIOMYOPATHY, DILATED, 1T

CARDIOMYOPATHY, DILATED, 1T (1 family)

CARDIOMYOPATHY, DILATED, 1U

CARDIOMYOPATHY, DILATED, 1V

CARDIOMYOPATHY, DILATED, 1W

CARDIOMYOPATHY, DILATED, 1X

CARDIOMYOPATHY, DILATED, 1Y

CARDIOMYOPATHY, DILATED, 1Z

CARDIOMYOPATHY, DILATED, 2A

CARDIOMYOPATHY, DILATED, 2B

CARDIOMYOPATHY, DILATED, 3B

CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM

CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM

CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

Cardiomyopathy, dilated, X-linked 3B

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

Cardiomyopathy, familial hypertrophic 1

Cardiomyopathy, familial hypertrophic 10

Cardiomyopathy, familial hypertrophic 16

Cardiomyopathy, familial hypertrophic 2

Cardiomyopathy, familial hypertrophic 20

Cardiomyopathy, familial hypertrophic 4

Cardiomyopathy, familial hypertrophic 6

Cardiomyopathy, familial hypertrophic 7

Cardiomyopathy, familial hypertrophic 9

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20

Cardiomyopathy, familial hypertrophic, 22

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4

Cardiomyopathy, familial hypertrophic, 4, susceptibility to

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3

Cardiomyopathy, familial restrictive, 4

Cardiomyopathy, fatal

Cardiomyopathy, fatal infantile

CARDIOMYOPATHY, HYPERTROPHIC, LETHAL NEONATAL, DUE TO CYTOCHROME c OXIDASE DEFICIENCY

CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC

Cardiomyopathy, hypertrophic, mitochondrial

CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL

CARDIOMYOPATHY, INFANTILE HISTIOCYTOID

Cardiomyopathy, infantile hypertrophic

Cardiomyopathy, mitochondrial

Cardiomyopathy, restrictive

Cardiovascular disease risk factors

Cardiovascular Diseases

Cardiovascular heart disease in diabetics

Carnevale syndrome

Carney complex

CARNEY COMPLEX VARIANT

Carney complex variant (CACOV)

CARNEY COMPLEX, TYPE 1

Carney complex-trismus-pseudocamptodactyly syndrome

Carney-Stratakis syndrome

Carnitine acylcarnitine translocase deficiency

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY

Carnitine palmitoyl transferase 1deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

Carnitine palmitoyltransferase 1deficiency

Carnitine palmitoyltransferase 2 deficiency late-onset

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

CARNITINE PALMITOYLTRANSFERASE IDEFICIENCY

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

Carotenoid and tocopherol levels

Carotid Arteries

Carotid Artery Diseases

Carotid atherosclerosis in HIV infection

Carotid body paraganglioma

Carotid intima media thickness

CAROTID INTIMAL MEDIAL THICKNESS 1

Carotid Stenosis

Carotid stenosis, susceptibility to

CARPAL TUNNEL SYNDROME

CARPAL TUNNEL SYNDROME, FAMILIAL

CARPENTER SYNDROME

CARPENTER SYNDROME 1

CARPENTER SYNDROME 2

Carpenter-Waziri syndrome

CASPASE 8 DEFICIENCY

Caspase-8 deficiency

Cataract

Cataract - intellectual disability - hypogonadism

Cataract 1

CATARACT 1 WITH MICROCORNEA

CATARACT 1, MULTIPLE TYPES

CATARACT 1, NUCLEAR PROGRESSIVE

CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA

CATARACT 1, ZONULAR PULVERULENT

CATARACT 10, MULTIPLE TYPES

CATARACT 11, MULTIPLE TYPES

CATARACT 11, TOTAL

CATARACT 12, MULTIPLE TYPES

CATARACT 13 WITH ADULT i PHENOTYPE

CATARACT 14, MULTIPLE TYPES

CATARACT 15, MULTIPLE TYPES

CATARACT 16, MULTIPLE TYPES

CATARACT 17, MULTIPLE TYPES

CATARACT 17, PULVERULENT

CATARACT 18

CATARACT 19

CATARACT 2, COPPOCK-LIKE

CATARACT 2, MULTIPLE TYPES

CATARACT 20, MULTIPLE TYPES

CATARACT 21, MULTIPLE TYPES

CATARACT 22

CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE

CATARACT 23

CATARACT 23, LAMELLAR

Cataract 3

CATARACT 3, MULTIPLE TYPES

CATARACT 30

CATARACT 31, MULTIPLE TYPES

CATARACT 31, POSTERIOR POLAR

CATARACT 33

CATARACT 36

CATARACT 38

Cataract 39, multiple types

Cataract 4

CATARACT 4, ACULEIFORM

CATARACT 4, CENTRAL NUCLEAR

CATARACT 4, CRYSTALLINE

CATARACT 4, MULTIPLE TYPES

CATARACT 4, NONNUCLEAR POLYMORPHIC CONGENITAL

CATARACT 4, PUNCTATE

CATARACT 40

CATARACT 41

CATARACT 5, LAMELLAR

Cataract 5, multiple types

Cataract 6

CATARACT 6, AGE-RELATED CORTICAL

Cataract 6, multiple types

CATARACT 9, AUTOSOMAL RECESSIVE

CATARACT 9, MULTIPLE TYPES

CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA

CATARACT 9, NUCLEAR

Cataract and cardiomyopathy

Cataract autosomal dominant (ADC)

Cataract autosomal dominant BFSP2-related (ADC-BFSP2)

Cataract congenital autosomal recessive type 4 (CATC4)

Cataract congenital cerulean type 3 (CCA3)

Cataract congenital cerulean type 4 (CCA4)

Cataract congenital non-nuclear polymorphic autosomal dominant (CCP)

Cataract congenital X-linked (CXN)

Cataract congenital zonular with sutural opacities (CCZS)

Cataract Coppock-like (CCL)

Cataract crystalline aculeiform (CACA)

Cataract Marner type (CAM)

Cataract posterior polar type 2 (CTPP2)

Cataract posterior polar type 4 (CTPP4)

Cataract pulverulent juvenile-onset MAF-related (CAPJOM)

Cataract with Y-shaped suture opacities

Cataract zonular HSF4-related (CZ-HSF4)

Cataract zonular pulverulent cataract type 3 (CZP3)

Cataract zonular pulverulent type 1 (CZP1)

Cataract zonular type 2 (CZ2)

Cataract, autosomal dominant

CATARACT, AUTOSOMAL DOMINANT NUCLEAR

CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1

CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA

CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1

Cataract, autosomal recessive congenital 2

CATARACT, CONGENITAL

CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2

CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3

CATARACT, CONGENITAL, CERULEAN TYPE, 2

CATARACT, COPPOCK-LIKE

CATARACT, JUVENILE, WITH MICROCORNEAND GLUCOSURIA

CATARACT, JUVENILE, WITH MICROCORNEAND RENAL GLUCOSURIA

CATARACT, LAMELLAR 2

Cataract, membranous

Cataract, microphthalmia and nystagmus

Cataract, nuclear diffuse nonprogressive

Cataract, nuclear total

CATARACT, POSTERIOR POLAR, 3

CATARACT, PULVERULENT, JUVENILE-ONSET

Cataract, sutural, with punctate and cerulean opacities

Cataract, zonular

Cataract-glaucoma

Cataract-microcornea syndrome

Cataract-microcornea syndrome (CAMIS)

Cataracts in type 2 diabetes

CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY

CATECHOL-O-METHYLTRANSFERASE

CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM

Catecholaminergic polymorphic ventricular tachycardia

Catel-Manzke syndrome

CATSPER-Related Male Infertility

Caudal duplication anomaly

Caudal regression sequence

CAUDAL REGRESSION SYNDROME

Caudate nucleus volume

Cause of early-onset myopathy with fatal cardiomyopathy (EOMFC)

CCR5 POLYMORPHISM, AFRICAN-AMERICAN

CCR5 POLYMORPHISM, ORIENTAL 2

CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL

CD40 Ligand

CD4:CD8 lymphocyte ratio

CD59 DEFICIENCY

Cd64 deficiency, familial

CD8 DEFICIENCY, FAMILIAL

CEDNIK syndrome

CELIAC DISEASE

Celiac disease 3

Celiac disease and Rheumatoid arthritis

CELIAC DISEASE, SUSCEPTIBILITY TO, 13

CELIAC DISEASE, SUSCEPTIBILITY TO, 3

CELIAC DISEASE, SUSCEPTIBILITY TO, 4

Cell Adhesion Molecules

CENANI-LENZ SYNDACTYLY SYNDROME

Cenani-Lenz syndactyly syndrome (CLSS)

Cenani-Lenz syndrome

Central areolar choroidal dystrophy

CENTRAL CORE DISEASE

CENTRAL CORE DISEASE OF MUSCLE

CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE

Central corneal thickness

Central hypothyroidism and testicular enlargement

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE

Central hypoventilation syndrome, congenital, with or without Hirschsprung disease

Central Nervous System

Central precocious puberty

Centripetalis recessive dystrophic epidermolysis bullosa

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

Centronuclear Myopathy 2

Centronuclear myopathy, autosomal, modifier of

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

Cerebellar ataxia - hypogonadism

Cerebellar ataxia and hypogonadotropic hypogonadism

Cerebellar ataxia infantile with progressive external ophthalmoplegia

Cerebellar ataxia mental retardation and dysequilibrium syndrome type 1 (CMARQ1)

Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3)

Cerebellar ataxia, cataract, and diabetes mellitus

CEREBELLAR ATAXIA, CAYMAN TYPE

Cerebellar ataxia, deafness, and narcolepsy

CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION

CEREBELLAR ATAXIAND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1

CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED

CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT

CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT

CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT

CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT

CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED

CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

CEREBRAL CAVERNOUS MALFORMATIONS

CEREBRAL CAVERNOUS MALFORMATIONS 1

CEREBRAL CAVERNOUS MALFORMATIONS 2

CEREBRAL CAVERNOUS MALFORMATIONS 3

Cerebral cavernous malformations type 1 (CCM1)

Cerebral cavernous malformations type 3 (CCM3)

CEREBRAL CREATINE DEFICIENCY SYNDROME 1

CEREBRAL CREATINE DEFICIENCY SYNDROME 2

CEREBRAL CREATINE DEFICIENCY SYNDROME 3

Cerebral degeneration

CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

Cerebral folate deficiency

CEREBRAL INFARCTION, SUSCEPTIBILITY TO

Cerebral palsy

Cerebral palsy spastic quadriplegic type 1 (CPSQ1)

Cerebral palsy spastic quadriplegic type 2 (CPSQ2)

Cerebral palsy spastic quadriplegic type 3 (CPSQ3)

Cerebral palsy spastic quadriplegic type 5

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2

Cerebral palsy, spastic quadriplegic, 3

Cerebral palsy, spastic quadriplegic, 6

Cerebral sinovenous thrombosis

Cerebro-costo-mandibular syndrome

Cerebro-facio-articular syndrome

Cerebro-facio-thoracic dysplasia

Cerebro-oculo-facio-skeletal syndrome

Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1)

Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2)

CEREBROOCULOFACIOSKELETAL SYNDROME 1

CEREBROOCULOFACIOSKELETAL SYNDROME 2

CEREBROOCULOFACIOSKELETAL SYNDROME 4

CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS

Cerebroretinal vasculopathy

Cerebrospinal AB1-42 levels

Cerebrospinal P-tau181p levels

Cerebrospinal T-tau levels

CEREBROTENDINOUS XANTHOMATOSIS

Cernunnos-XLF deficiency

Ceroid lipofuscinosis neuronal 1

Ceroid lipofuscinosis neuronal 10

Ceroid lipofuscinosis neuronal 4B autosomal dominant

Ceroid lipofuscinosis neuronal 5

Ceroid lipofuscinosis neuronal 6

Ceroid lipofuscinosis neuronal 7

Ceroid lipofuscinosis neuronal 8

CEROID LIPOFUSCINOSIS, NEURONAL, 1

CEROID LIPOFUSCINOSIS, NEURONAL, 10

CEROID LIPOFUSCINOSIS, NEURONAL, 11

CEROID LIPOFUSCINOSIS, NEURONAL, 13

CEROID LIPOFUSCINOSIS, NEURONAL, 2

CEROID LIPOFUSCINOSIS, NEURONAL, 3

CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT

CEROID LIPOFUSCINOSIS, NEURONAL, 5

CEROID LIPOFUSCINOSIS, NEURONAL, 6

CEROID LIPOFUSCINOSIS, NEURONAL, 7

CEROID LIPOFUSCINOSIS, NEURONAL, 8

CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

Ceroid lipofuscinosis, neuronal, Kufs type, adult onset

Cerulean cataract

Ceruloplasmin belfast

CERVICAL CANCER

Cervical carcinoma cell line

Cervical spina bifida aperta

Cervical spina bifida cystica

Cervicothoracic spina bifida aperta

Cervicothoracic spina bifida cystica

CFC1-Related Conotruncal Heart Malformations

CFHR5 DEFICIENCY

CFTR POLYMORPHISM

Chagas cardiomyopathy in Tripanosoma cruzi seropositivity

CHANARIN-DORFMAN SYNDROME

Chanarin-Dorfman syndrome (CDS)

Channelopathy-associated congenital insensitivity to pain

CHAR SYNDROME

Charcot-Marie-Tooth disease 1A

Charcot-Marie-Tooth disease 1C

Charcot-Marie-Tooth disease 1F

Charcot-Marie-Tooth disease 2A2

Charcot-Marie-Tooth disease 2B

Charcot-Marie-Tooth disease 2B2

Charcot-Marie-Tooth disease 2E

Charcot-Marie-Tooth disease 4A

Charcot-Marie-Tooth disease 4F

Charcot-Marie-Tooth disease 4J

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

Charcot-Marie-Tooth disease dominant intermediate 3

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1B

Charcot-Marie-Tooth disease type 1C

Charcot-Marie-Tooth disease type 1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 2B

Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2C

Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2F

Charcot-Marie-Tooth disease type 2H

Charcot-Marie-Tooth disease type 2I

Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth disease type 2K

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 2R

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma

Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4J

Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5)

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

Charcot-Marie-Tooth disease, dominant intermediate F

CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A

CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B

CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D

Charcot-Marie-Tooth disease, type 2A1

Charcot-Marie-Tooth disease, type 2A2

Charcot-Marie-Tooth disease, type 2L

Charcot-Marie-Tooth disease, type 2M

Charcot-Marie-Tooth disease, type 2N

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F

Charcot-Marie-Tooth disease, type 4G

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J

Charcot-Marie-Tooth disease, type IA

Charcot-Marie-Tooth disease, type IB

Charcot-Marie-Tooth disease, type IC

Charcot-Marie-Tooth disease, type ID

Charcot-Marie-Tooth disease, type IE

Charcot-Marie-Tooth disease, type IF

Charcot-Marie-Tooth disease, type IVF

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

Charcot-Marie-Tooth disease, X-linked dominant, 6

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

Charcot-Marie-Tooth disease, X-linked recessive, type 4

Charcot-Marie-Tooth disease, X-linked recessive, type 5

CHARGE association

CHARGE SYNDROME

CHARGE syndrome (CHARGES)

CHE*390V

CHE*539T

CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF

CHEDIAK-HIGASHI SYNDROME

CHEDIAK-HIGASHI SYNDROME, ADULT TYPE

CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE

Chemerin levels

CHERUBISM

CHILBLAIN LUPUS

CHILBLAIN LUPUS 1

CHILBLAIN LUPUS 2

Chilblain lupus erythematosus

CHILD SYNDROME

Childhood absence epilepsy

Childhood absence epilepsy type 5

Childhood apraxia of speech

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood hepatocellular carcinoma

Childhood hypophosphatasia

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Childhood-onset hypogammaglobulinemia

Childhood-onset hypophosphatasia

Childhood-onset nemaline myopathy

CHIME syndrome

CHITOTRIOSIDASE DEFICIENCY

Chloramphenicol resistance

Choanal atresia

Choanal atresia and lymphedema

Cholecystitis

CHOLECYSTOKININ RECEPTOR POLYMORPHISM

Cholelithiasis-related traits in sickle cell anemia

Cholestanol storage disease

Cholestasis of pregnancy

Cholestasis of pregnancy, intrahepatic 1

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3

Cholesterol

Cholesterol and Triglycerides

Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia

Cholesterol monooxygenase (side-chain cleaving) deficiency

Cholesterol, HDL

Cholesterol, LDL

Cholesterol, total

Cholesterol-ester transfer protein deficiency

Cholesteryl ester storage disease

CHONDROCALCINOSIS 2

Chondrocalcinosis 2 (CCAL2)

CHONDROCALCINOSIS 2, SPORADIC

Chondrodysplasia Blomstrand type

Chondrodysplasia Blomstrand type (BOCD)

Chondrodysplasia Punctata 1, X-Linked

Chondrodysplasia punctata 2 X-linked dominant

Chondrodysplasia Punctata 2, X-Linked

Chondrodysplasia with joint dislocations, GRAPP type

CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES

CHONDRODYSPLASIA, BLOMSTRAND TYPE

CHONDRODYSPLASIA, GREBE TYPE

CHONDRODYSPLASIPUNCTATA 1, X-LINKED RECESSIVE

CHONDRODYSPLASIPUNCTATA 2, X-LINKED DOMINANT

CHONDRODYSPLASIPUNCTATA 2, X-LINKED DOMINANT, ATYPICAL

CHONDRODYSPLASIWITH JOINT DISLOCATIONS, GPAPP TYPE

CHONDRODYSPLASIWITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,

CHONDRODYSPLASIWITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (1 family)

Chondroectodermal dysplasia

CHONDROSARCOMA

Chordoma

CHORDOMA, SUSCEPTIBILITY TO

CHOREA, BENIGN HEREDITARY

Chorea, hereditary benign

CHOREOACANTHOCYTOSIS

CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS

Choreoathetosis/spasticity, episodic

Choroid plexus carcinoma

CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2

CHOROIDEREMIA

Christianson syndrome

Chromophobe renal cell carcinoma

CHROMOSOME 10q23 DELETION SYNDROME

Chromosome 11p15.5-Related Russell-Silver Syndrome

CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME

Chromosome 17q21.31 microdeletion syndrome

Chromosome 1q43-q44 deletion syndrome

Chromosome 2q32-q33 deletion syndrome

Chromosome 9q deletion syndrome

Chromosome Xq28 deletion syndrome

Chromosome Xq28 duplication syndrome

Chronic berylliosis

Chronic diarrhea due to guanylate cyclase 2C overactivity

Chronic diarrhea with hereditary sensory and autonomic neuropathy

Chronic granuloma and hemolytic anemia

Chronic granulomatous disease

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3

Chronic granulomatous disease, X-linked

Chronic hepatitis B infection

Chronic Hepatitis C infection

Chronic infantile neurological, cutaneous and articular syndrome

Chronic intestinal pseudo-obstruction

Chronic kidney disease

Chronic kidney disease and serum creatinine levels

Chronic lymphocytic leukemia

Chronic mucocutaneous candidosis

Chronic myeloid leukemia

CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB

Chronic myelomonocytic leukemia

Chronic neutrophilic leukemia

Chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease-related biomarkers

Chronic respiratory distress with surfactant metabolism deficiency

CHST3-related skeletal dysplasia

Chudley-Lowry-Hoar syndrome

CHUDLEY-MCCULLOUGH SYNDROME

Chuvash erythrocytosis

CHYLOMICRON RETENTION DISEASE

CILIARY DYSKINESIA, PRIMARY, 1

CILIARY DYSKINESIA, PRIMARY, 10

CILIARY DYSKINESIA, PRIMARY, 11

CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS

CILIARY DYSKINESIA, PRIMARY, 12

CILIARY DYSKINESIA, PRIMARY, 13

Ciliary dyskinesia, primary, 14

Ciliary dyskinesia, primary, 15

CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 17

CILIARY DYSKINESIA, PRIMARY, 18

CILIARY DYSKINESIA, PRIMARY, 19

CILIARY DYSKINESIA, PRIMARY, 2

CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 21

CILIARY DYSKINESIA, PRIMARY, 22

CILIARY DYSKINESIA, PRIMARY, 23

CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS

CILIARY DYSKINESIA, PRIMARY, 25

Ciliary dyskinesia, primary, 26

CILIARY DYSKINESIA, PRIMARY, 26, WITH SITUS INVERSUS

CILIARY DYSKINESIA, PRIMARY, 26, WITHOUT SITUS INVERSUS

CILIARY DYSKINESIA, PRIMARY, 27

Ciliary dyskinesia, primary, 28

CILIARY DYSKINESIA, PRIMARY, 29

CILIARY DYSKINESIA, PRIMARY, 3

CILIARY DYSKINESIA, PRIMARY, 5

CILIARY DYSKINESIA, PRIMARY, 6

CILIARY DYSKINESIA, PRIMARY, 7

CILIARY DYSKINESIA, PRIMARY, 9

CINCSYNDROME

CINCsyndrome with NLRP3 mutations

CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1

Circulating cell-free DNA

Circulating myeloperoxidase levels (plasma)

Circulating myeloperoxidase levels (serum)

Circulating vasoactive peptide levels

Circumscribed cutaneous aplasia of the vertex

Cirrhosis

CIRRHOSIS, CRYPTOGENIC

CIRRHOSIS, FAMILIAL

Cirrhosis, noncryptogenic, susceptibility to

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Citrullinemia 1

Citrullinemia Type I

Citrullinemia type II

CITRULLINEMIA, CLASSIC

CITRULLINEMIA, MILD

CITRULLINEMIA, TYPE II, ADULT-ONSET

CITRULLINEMIA, TYPE II, NEONATAL-ONSET

CK SYNDROME

CK syndrome (CKS)

Classic Bartter syndrome

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic galactosemia

Classic maple syrup urine disease

Classic mast cell leukemia

Classic Mayer-Rokitansky-Kuster-Hauser syndrome

Classic multiminicore myopathy

Classic pantothenate kinase associated neurodegeneration

Classical galactosemia, homozygous Duarte-type

Classical homocystinuria

Classical phenylketonuria

Classical progressive supranuclear palsy

CLCN7-Related Osteopetrosis

Clear cell carcinoma of kidney

Clear cell renal carcinoma

Cleft lip

Cleft Lip +/- Cleft Palate

CLEFT LIP/PALATE-ECTODERMAL DYSPLASISYNDROME

Cleft palate isolated (CPI)

CLEFT PALATE WITH ANKYLOGLOSSIA

Cleft palate with or without ankyloglossia, X-linked

CLEFT PALATE, ISOLATED

Cleft Palate, X-Linked

Cleft upper lip

Cleidocranial dysostosis

CLEIDOCRANIAL DYSPLASIA

Cleidocranial dysplasia (CLCD)

Cleidocranial dysplasia, forme fruste, dental anomalies only

Cleidocranial dysplasia, forme fruste, with brachydactyly

CLEIDOCRANIAL DYSPLASIWITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME

Clinodactyly of the 5th finger

CLN1 disease

CLN10 disease

CLN11 disease

CLN13 disease

CLN2 disease

CLN3 disease

CLN4B disease

CLN4disease

CLN5 disease

CLN6 disease

CLN7 disease

CLN8 disease

Clonus

Clopidogrel response

CLOUSTON SYNDROME

CLOVE syndrome

CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI

Clubbing with skeletal dysplasia inc acroosteolysis

CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR

CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY

COACH syndrome

COACH syndrome (COACHS)

COACH syndrome(COACHS)

Coagulation factor levels

Coarse facial features

COASY protein-associated neurodegeneration

Coats disease

Coats plus syndrome

Cobalamin Disorder

Cobblestone lissencephaly without muscular or ocular involvement

Cocaine dependence

Cockayne syndrome A

COCKAYNE SYNDROME B

Cockayne syndrome type (CSA)

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Cockayne syndrome type A

Cockayne syndrome type B (CSB)

COCKAYNE SYNDROME, TYPE B

Cocoon syndrome

Cocoon syndrome (COCOS)

CODON 72 POLYMORPHISM, (rs1042522)

CODON 72 POLYMORPHISM, ({dbSNP rs1042522})

Coenzyme Q10 deficiency

COENZYME Q10 DEFICIENCY, PRIMARY, 1

COENZYME Q10 DEFICIENCY, PRIMARY, 2

COENZYME Q10 DEFICIENCY, PRIMARY, 3

COENZYME Q10 DEFICIENCY, PRIMARY, 4

COENZYME Q10 DEFICIENCY, PRIMARY, 5

COENZYME Q10 DEFICIENCY, PRIMARY, 6

Coffee consumption

Coffin Siris

Coffin Siris syndrome

Coffin Siris/Intellectual Disability

COFFIN-LOWRY SYNDROME

Coffin-Lowry syndrome (CLS)

COFFIN-SIRIS SYNDROME

COFS syndrome

COG1-CDG (CDG-IIg)

COG4-CDG (CDG-IIj)

COG5-CDG (CDG-IIi)

COG7-CDG (CDG-IIe)

COG8-CDG (CDG-IIh)

Cognitive decline

Cognitive decline (age-related)

Cognitive function

Cognitive impairment

Cognitive impairment with or without cerebellar ataxia

Cognitive performance

Cognitive test performance

COHEN SYNDROME

Cohesinopathy

COL1A1/2-Related Osteogenesis Imperfecta

COLCHICINE RESISTANCE

Cold-induced sweating syndrome

COLD-INDUCED SWEATING SYNDROME 1

COLD-INDUCED SWEATING SYNDROME 2

Cole disease

Colitis

COLLAGEN TYPE III POLYMORPHISM

COLLAGEN, TYPE II, ALPHA-1

Coloboma of optic disc

Coloboma of optic nerve (COLON)

COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome

COLOBOMA, OCULAR

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation

Colobomatous microphthalmia

COLOBOMOF OPTIC NERVE

COLON CANCER

Colon cancer sample

COLON CANCER, ADVANCED

COLON CANCER, ADVANCED, SOMATIC

COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLON CANCER, SOMATIC

COLON CANCER, SUSCEPTIBILITY TO

Colonic adenocarcinoma

Colonic adenoma recurrence, reduced risk of

COLORBLINDNESS, DEUTAN

COLORBLINDNESS, PARTIAL, DEUTAN SERIES

COLORBLINDNESS, PARTIAL, PROTAN SERIES

COLORBLINDNESS, PROTAN

Colorectal adenocarcinoma sample

COLORECTAL CANCER

Colorectal cancer 1

Colorectal cancer 10

Colorectal cancer sample

COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4

Colorectal cancer, hereditary nonpolyposis, type 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8

COLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1

COLORECTAL CANCER, PROTECTION AGAINST

COLORECTAL CANCER, SOMATIC

Colorectal cancer, sporadic, susceptibility to

Colorectal cancer, susceptibility to

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

Colorectal/endometrial cancer

Colostrum secretion

COLTON BLOOD GROUP POLYMORPHISM

Colton-null

COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

Combined cervical dystonia

COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA

Combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII, 1

Combined deficiency of sialidase AND beta galactosidase

Combined deficiency of vitamin K-dependent clotting factors 1

COMBINED HYPERLIPIDEMIA, FAMILIAL

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency T+ B+ due to partial RAG1 deficiency

COMBINED IMMUNODEFICIENCY, X-LINKED

Combined malonic and methylmalonic acidemia

Combined malonic and methylmalonic aciduria

Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 4

Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 9

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

Combined oxidative phosphorylation deficiency 16

Combined oxidative phosphorylation deficiency 17

Combined oxidative phosphorylation deficiency 18

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6

Combined oxidative phosphorylation deficiency 7

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency

Combined pituitary hormone deficiencies, genetic forms

COMBINED SAPOSIN DEFICIENCY

Commissural facial cleft

Common traits (Other)

Common variable immunodeficiency

Common variable immunodeficiency 1

Common variable immunodeficiency 10

Common variable immunodeficiency 2

Common variable immunodeficiency 7

Common variable immunodeficiency 8, with autoimmunity

Common variable immunodeficiency 9

Complement 1s deficiency

Complement C3 and C4 levels

COMPLEMENT C8 DEFICIENCY, TYPE II

COMPLEMENT COMPONENT 2 DEFICIENCY

Complement component 3 deficiency

COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE

COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF

COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR

COMPLEMENT COMPONENT 4B DEFICIENCY

COMPLEMENT COMPONENT 4DEFICIENCY

COMPLEMENT COMPONENT 5 DEFICIENCY

COMPLEMENT COMPONENT 6 DEFICIENCY

Complement component 7 deficiency

Complement component 8 deficiency type 2

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II

COMPLEMENT COMPONENT 8, ALPHSUBUNIT, A/B POLYMORPHISM

COMPLEMENT COMPONENT 9 DEFICIENCY

COMPLEMENT COMPONENT C1s DEFICIENCY

COMPLEMENT FACTOR B DEFICIENCY

COMPLEMENT FACTOR B DEFICIENCY (1 family)

COMPLEMENT FACTOR D DEFICIENCY

COMPLEMENT FACTOR H DEFICIENCY

COMPLEMENT FACTOR I DEFICIENCY

Complete androgen insensitivity syndrome

Complete atrioventricular canal

Complete atrioventricular canal - Fallot tetralogy

Complete atrioventricular canal - left heart obstruction

Complete atrioventricular canal - ventricle hypoplasia

Complete atrioventricular canal defect

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency

Complete hydatidiform mole

Complex craniosynostosis

Complex Hereditary Spastic Paraplegia

Complex IV deficiency

Comprehensive strength and appendicular lean mass

Conduct disorder (interaction)

Conduct disorder (symptom count)

Conductive hearing impairment

CONE DYSTROPHY 3

CONE DYSTROPHY 4

CONE DYSTROPHY 5, X-LINKED

Cone dystrophy with supernormal rod response

Cone monochromatism

Cone rod dystrophy

Cone-rod dystrophy

CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 11

CONE-ROD DYSTROPHY 12

CONE-ROD DYSTROPHY 13

CONE-ROD DYSTROPHY 14

CONE-ROD DYSTROPHY 15

Cone-rod dystrophy 16

Cone-rod dystrophy 18

CONE-ROD DYSTROPHY 2

CONE-ROD DYSTROPHY 3

CONE-ROD DYSTROPHY 5

CONE-ROD DYSTROPHY 6

CONE-ROD DYSTROPHY 7

CONE-ROD DYSTROPHY 9

Cone-rod dystrophy amelogenesis imperfecta

CONE-ROD DYSTROPHY, AIPL1-RELATED

Cone-rod dystrophy, X-linked 1

CONE-ROD DYSTROPHY, X-LINKED, 1

CONE-ROD DYSTROPHY, X-LINKED, 3

Congenital absence of salivary gland

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hypoplasia, X-linked

Congenital alpha2 antiplasmin deficiency

Congenital alveolar capillary dysplasia

Congenital amegakaryocytic thrombocytopenia

Congenital analbuminemia

Congenital and juvenile cataract

Congenital aneurysm of ascending aorta

Congenital aniridia

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1

Congenital anonychia

Congenital atransferrinemia

Congenital atresia of mitral valve

Congenital bilateral absence of the vas deferens

Congenital bilateral absence of vas deferens

Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 3

Congenital bile acid synthesis defect type 4

Congenital blindness due to retinal nonattachment

Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay

Congenital cataract microcornea with corneal opacity

Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataracts - facial dysmorphism - neuropathy

Congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN)

CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY

CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION

Congenital central hypoventilation

Congenital central hypoventilation syndrome

Congenital Cerebellar Ataxia

Congenital chloride diarrhea

Congenital chronic diarrhea with protein-losing enteropathy

Congenital clubfoot

Congenital communicating hydrocephalus

Congenital contractural arachnodactyly

Congenital cornea plana

Congenital cystic disease of liver

Congenital defect of folate absorption

Congenital deficiency in alpha-fetoprotein

Congenital diaphragmatic hernia

Congenital diarrheal disorders

CONGENITAL DISORDER OF DEGLYCOSYLATION

Congenital Disorder of Glycosylation

Congenital disorder of glycosylation 1A

Congenital disorder of glycosylation 1B

Congenital disorder of glycosylation 1C

Congenital disorder of glycosylation 1D

Congenital disorder of glycosylation 1G

Congenital disorder of glycosylation 1J

Congenital disorder of glycosylation 1K

Congenital disorder of glycosylation 2C

Congenital disorder of glycosylation type 1B

Congenital disorder of glycosylation type 1C

Congenital disorder of glycosylation type 1D

Congenital disorder of glycosylation type 1E

Congenital disorder of glycosylation type 1F

Congenital disorder of glycosylation type 1G

Congenital disorder of glycosylation type 1G (CDG1G)

Congenital disorder of glycosylation type 1H

Congenital disorder of glycosylation type 1I

Congenital disorder of glycosylation type 1J

Congenital disorder of glycosylation type 1K

Congenital disorder of glycosylation type 1L

Congenital disorder of glycosylation type 1M

Congenital disorder of glycosylation type 1N

Congenital disorder of glycosylation type 1O

Congenital disorder of glycosylation type 1P

Congenital disorder of glycosylation type 1q

Congenital disorder of glycosylation type 1s

Congenital disorder of glycosylation type 1t

Congenital disorder of glycosylation type 1u

Congenital disorder of glycosylation type 2(CDG2A)

Congenital disorder of glycosylation type 2B

Congenital disorder of glycosylation type 2C

Congenital disorder of glycosylation type 2C (CDG2C)

Congenital disorder of glycosylation type 2H

Congenital disorder of glycosylation type 2J

Congenital disorder of glycosylation type 2k

Congenital disorder of glycosylation type 2L

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj

Congenital disorder of glycosylation, type IIk

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix

Congenital Disorders of Glycosylation

Congenital dyserythropoietic anemia type I

Congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type III

Congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemia, type I

Congenital dyserythropoietic anemia, type II

Congenital ectodermal dysplasia of face

Congenital enteropathy due to enteropeptidase deficiency

Congenital erythropoietic porphyria

Congenital factor II deficiency

Congenital factor V deficiency

Congenital factor VII deficiency

Congenital factor X deficiency

Congenital factor XI deficiency

Congenital factor XII deficiency

Congenital factor XIII deficiency

Congenital fiber-type disproportion myopathy

Congenital fibrosis of extraocular muscles

Congenital generalized lipodystrophy 1

Congenital generalized lipodystrophy type 1

Congenital generalized lipodystrophy type 2

Congenital generalized lipodystrophy type 3

Congenital glaucoma

Congenital glucose-galactose malabsorption

Congenital heart defects

Congenital heart defects and intellectual disability

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2

Congenital heart defects, multiple types, 4

Congenital heart disease

CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2

Congenital heart disease, nonsyndromic, 2

Congenital heart malformation

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD)

CONGENITAL HEMIDYSPLASIWITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB

Congenital hereditary endothelial dystrophy type II

Congenital hereditary facial paralysis with variable hearing loss

Congenital high-molecular-weight kininogen deficiency

Congenital human immunodeficiency virus

Congenital hyperammonemia, type I

Congenital hypomyelinating neuropathy

Congenital hypothyroidism non-goitrous type 2 (CHNG2)

Congenital hypothyroidism non-goitrous type 5 (CHNG5)

Congenital ichthyosis

Congenital ichthyosis - intellectual disability - spastic quadriplegia

Congenital inability to experience pain

Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA)

Congenital intrauterine infection-like syndrome

Congenital intrinsic factor deficiency

Congenital isolated ACTH deficiency

Congenital isolated thyroxine-binding globulin deficiency

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital lethal myopathy, Compton-North type

CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

Congenital long QT syndrome

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Congenital mesoblastic nephroma

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Congenital microvillous atrophy

Congenital multicore myopathy with external ophthalmoplegia

Congenital Muscular Dystrophy

Congenital muscular dystrophy due to LMNmutation

Congenital muscular dystrophy due to partial LAMA2 deficiency

Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect

Congenital muscular dystrophy type 1A

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with hyperlaxity

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy, LMNA-related

Congenital muscular dystrophy, Ullrich type

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A13

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5

Congenital muscular hypertrophy-cerebral syndrome

Congenital myasthenic syndrome, acetazolamide-responsive

Congenital myasthenic syndromes with glycosylation defect

Congenital myopathy with excess of muscle spindles (CMEMS)

Congenital myopathy with excess of thin filaments

Congenital myopathy with fiber type disproportion

Congenital myopathy with internal nuclei and atypical cores

Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Congenital myopathy, Paradas type

Congenital myotonia, autosomal dominant form

Congenital myotonia, autosomal recessive form

Congenital nephrotic syndrome, Finnish type

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

Congenital non-communicating hydrocephalus

Congenital nonbullous ichthyosiform erythroderma

Congenital ocular coloboma

Congenital order of glycosylation type 1r

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital prekallikrein deficiency

Congenital primary aphakia

Congenital primary aphakia (CPA)

Congenital pulmonary alveolar proteinosis

Congenital reticular ichthyosiform erythroderma

Congenital secretory diarrhea, chloride type

Congenital sensory neuropathy with selective loss of small myelinated fibers

Congenital short bowel syndrome

Congenital short bowel syndrome, X-linked

Congenital sialidosis type 2

Congenital sodium diarrhea

Congenital stationary night blindness

Congenital stationary night blindness, autosomal dominant 1

Congenital stationary night blindness, autosomal dominant 2

Congenital stationary night blindness, autosomal dominant 3

Congenital stationary night blindness, type 1A

Congenital stationary night blindness, type 1B

Congenital stationary night blindness, type 1C

Congenital stationary night blindness, type 1E

Congenital stationary night blindness, type 1F

Congenital stationary night blindness, type 2A

Congenital stationary night blindness, type 2A, severe

Congenital stationary night blindness, type 2B

Congenital Stromal Corneal Dystrophy

Congenital sucrase-isomaltase deficiency

Congenital sucrase-isomaltase deficiency with minimal starch tolerance

Congenital sucrase-isomaltase deficiency with starch and lactose intolerance

Congenital sucrase-isomaltase deficiency with starch intolerance

Congenital sucrase-isomaltase deficiency without starch intolerance

Congenital sucrase-isomaltase deficiency without sucrose intolerance

Congenital systemic glutamine deficiency (CSGD)

Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency

Congenital valvular dysplasia

Congenital variant of Rett syndrome (RTTCV)

Congenital vertical talus, bilateral

Congenital vertical talus, unilateral

Congenitally uncorrected transposition of the great arteries

CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME

Conotruncal heart malformations

Constitutional megaloblastic anemia with severe neurologic disease

Constitutional mismatch repair deficiency syndrome

Continuous spikes and waves during sleep

CONTRACTURAL ARACHNODACTYLY, CONGENITAL

Contrast sensitivity

CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;

Coppock-like cataract

COPROPORPHYRIA

Coproporphyria, digenic

COPROPORPHYRIA, HEREDITARY

Coralliform cataract

Corneal astigmatism

Corneal curvature

Corneal dystrophy - perceptive deafness

CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS

Corneal dystrophy Fuchs endothelial 1

Corneal dystrophy Fuchs endothelial type 6

CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I

CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II

CORNEAL DYSTROPHY, AVELLINO TYPE

CORNEAL DYSTROPHY, CONGENITAL STROMAL

CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE

CORNEAL DYSTROPHY, FLECK

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1

Corneal dystrophy, fuchs endothelial, 4

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

Corneal dystrophy, fuchs endothelial, 8

CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE

CORNEAL DYSTROPHY, GROENOUW TYPE I

Corneal dystrophy, lattice type 3A

CORNEAL DYSTROPHY, LATTICE TYPE I

CORNEAL DYSTROPHY, LATTICE TYPE IIIA

CORNEAL DYSTROPHY, MEESMANN

Corneal dystrophy, polymorphous posterior, 2

CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1

CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2

CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3

CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE

CORNEAL DYSTROPHY, SCHNYDER

CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE

CORNEAL ENDOTHELIAL DYSTROPHY 2

CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE

Corneal endothelial dystrophy type 2

Corneal epithelial dystrophy

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Corneal intraepithelial dyskeratosis and ectodermal dysplasia

Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis

Corneal structure

Cornelia de Lange syndrome

Cornelia de Lange syndrome type 1 (CDLS1)

Cornelia de Lange syndrome type 2 (CDLS2)

Cornelia de Lange syndrome type 3 (CDLS3)

Cornelia de Lange-like syndrome

CORNELIDE LANGE SYNDROME 1

CORNELIDE LANGE SYNDROME 2

CORNELIDE LANGE SYNDROME 3

CORNELIDE LANGE SYNDROME 4

CORNELIDE LANGE SYNDROME 5

CORNEPLANA 2

Coronal Craniosynostosis

Coronary arterial lesions in patients with Kawasaki disease

Coronary artery calcification

Coronary Artery Disease

Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

Coronary artery disease or ischemic stroke

Coronary artery disease or large artery stroke

CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2

CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1

Coronary artery disease, development of, in hiv

Coronary artery disease, modifier of

Coronary artery disease, resistance to

Coronary artery disease, severe, susceptibility to

Coronary artery disease, susceptibility to

CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION

CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO

Coronary artery spasm 2, susceptibility to

CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO

Coronary Disease

Coronary heart disease

Coronary heart disease 2

Coronary heart disease 5

CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST

CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5

CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6

CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7

Coronary restenosis

Coronary spasm

Corpus callosum agenesis

Corpus callosum agenesis - neuronopathy

CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA

CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Cortical dysplasia - focal epilepsy syndrome

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3

Cortical dysplasia, complex, with other brain malformations 4

Cortical dysplasia, complex, with other brain malformations 5

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Cortical dysplasia-focal epilepsy syndrome (CDFES)

CORTICAL MALFORMATIONS, OCCIPITAL

Cortical structure

Cortical thickness

CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

Corticosterone methyloxidase 2 deficiency

Corticosterone methyloxidase type 1 deficiency

Corticosterone methyloxidase type 2 deficiency

CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

Cortisone reductase deficiency

CORTISONE REDUCTASE DEFICIENCY 1

Cortisone reductase deficiency 2

COSMIC:tumour_site:adrenal_gland

COSMIC:tumour_site:autonomic_ganglia

COSMIC:tumour_site:biliary_tract

COSMIC:tumour_site:bone

COSMIC:tumour_site:breast

COSMIC:tumour_site:central_nervous_system

COSMIC:tumour_site:cervix

COSMIC:tumour_site:endometrium

COSMIC:tumour_site:eye

COSMIC:tumour_site:fallopian_tube

COSMIC:tumour_site:gastrointestinal_tract_(site_indeterminate)

COSMIC:tumour_site:genital_tract

COSMIC:tumour_site:haematopoietic_and_lymphoid_tissue

COSMIC:tumour_site:kidney

COSMIC:tumour_site:large_intestine

COSMIC:tumour_site:liver

COSMIC:tumour_site:lung

COSMIC:tumour_site:meninges

COSMIC:tumour_site:NS

COSMIC:tumour_site:oesophagus

COSMIC:tumour_site:ovary

COSMIC:tumour_site:pancreas

COSMIC:tumour_site:paratesticular_tissues

COSMIC:tumour_site:parathyroid

COSMIC:tumour_site:penis

COSMIC:tumour_site:peritoneum

COSMIC:tumour_site:pituitary

COSMIC:tumour_site:placenta

COSMIC:tumour_site:pleura

COSMIC:tumour_site:prostate

COSMIC:tumour_site:retroperitoneum

COSMIC:tumour_site:salivary_gland

COSMIC:tumour_site:skin

COSMIC:tumour_site:small_intestine

COSMIC:tumour_site:soft_tissue

COSMIC:tumour_site:stomach

COSMIC:tumour_site:testis

COSMIC:tumour_site:thymus

COSMIC:tumour_site:thyroid

COSMIC:tumour_site:upper_aerodigestive_tract

COSMIC:tumour_site:urinary_tract

COSMIC:tumour_site:vagina

COSMIC:tumour_site:vulva

COSTELLO SYNDROME

COSTELLO SYNDROME, SEVERE

COUMARIN RESISTANCE

COUMARIN, POOR METABOLISM OF

COUSIN SYNDROME

COWCHOCK SYNDROME

Cowden disease (CD)

COWDEN DISEASE 1

COWDEN DISEASE 2

COWDEN DISEASE 3

Cowden disease 6

COWDEN SYNDROME

COWDEN SYNDROME 1

COWDEN SYNDROME 2

COWDEN SYNDROME 3

COWDEN SYNDROME 4

COWDEN SYNDROME 5

COWDEN SYNDROME 6

COWDEN-LIKE SYNDROME

Coxa plana

Coxo-podo-patellar syndrome

Cranio-osteoarthropathy

Craniodiaphyseal dysplasia

CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT

CRANIOECTODERMAL DYSPLASI1

CRANIOECTODERMAL DYSPLASI3

Cranioectodermal dysplasia

Cranioectodermal dysplasia 2

Cranioectodermal dysplasia 4

Cranioectodermal dysplasia type 3 (CED3)

CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME

Craniofacial deafness hand syndrome

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

Craniofacial dysplasia-osteopenia syndrome

CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Craniofacial-skeletal-dermatologic dysplasia

Craniofacial-ulnar-renal syndrome

Craniofrontonasal dysplasia

CRANIOFRONTONASAL SYNDROME

Craniofrontonasal syndrome (CFNS)

CRANIOLENTICULOSUTURAL DYSPLASIA

Craniometaphyseal dysplasia

Craniometaphyseal dysplasia Jackson type (CMDJ)

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

CRANIOOSTEOARTHROPATHY

Craniopharyngioma

Craniorachischisis

CRANIOSYNOSTOSIS 1

CRANIOSYNOSTOSIS 2

Craniosynostosis 3

CRANIOSYNOSTOSIS 4

Craniosynostosis 5, susceptibility to

Craniosynostosis and dental anomalies

Craniosynostosis, Boston type

Craniosynostosis, nonclassifiable autosomal dominant

CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL

CRANIOSYNOSTOSIS, TYPE 1

CRANIOSYNOSTOSIS, TYPE 2

Creatine deficiency, X-linked

CREATINE PHOSPHOKINASE, ELEVATED SERUM

Creatinine

Creatinine levels

Cree leukoencephalopathy

CREUTZFELDT-JAKOB DISEASE

Creutzfeldt-Jakob disease (variant)

Crigler Najjar syndrome, type 1

Crigler-Najjar syndrome 2

Crigler-Najjar syndrome type 1

Crigler-Najjar syndrome type 2

CRIGLER-NAJJAR SYNDROME, TYPE I

CRIGLER-NAJJAR SYNDROME, TYPE II

CRISPONI SYNDROME

Crohn's disease

Crohn's disease (need for surgery)

Crohn's disease (time to surgery)

Crohn's disease and celiac disease

Crohn's disease and psoriasis

Crohn's disease and sarcoidosis (combined)

Crohns Disease

Cromer blood group system

CROMER BLOOD GROUP SYSTEM, Inab PHENOTYPE

Crouzon disease

CROUZON SYNDROME

Crouzon syndrome (CS)

Crouzon syndrome - acanthosis nigricans

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

Crouzon syndrome with acanthosis nigricans (CAN)

CRX-Related Leber Congenital Amaurosis Leber congenital amaurosis 7

Cryptophthalmos syndrome

CRYPTORCHIDISM

Cryptorchidism, unilateral or bilateral

Cryptosporidiosis - chronic cholangitis - liver disease

Cupped ear

CURRARINO SYNDROME

Currarino syndrome (CURRAS)

Currarino triad

Curry-Hall syndrome

Cushings symphalangism

Cushings syndrome

Cutaneous amyloidosis

Cutaneous malignant melanoma 1

Cutaneous malignant melanoma 3

Cutaneous malignant melanoma 5

Cutaneous malignant melanoma 6

Cutaneous malignant melanoma 8

Cutaneous mastocytoma

Cutaneous nevi

CUTANEOUS TELANGIECTASIAND CANCER SYNDROME, FAMILIAL

Cutis gyrata - acanthosis nigricans - craniosynostosis

Cutis Gyrata syndrome of Beare and Stevenson

Cutis laxa with osteodystrophy

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

CUTIS LAXA, AUTOSOMAL DOMINANT 1

CUTIS LAXA, AUTOSOMAL DOMINANT 2

Cutis laxa, autosomal recessive, 1A

Cutis laxa, autosomal recessive, 2B

Cutis laxa, autosomal recessive, 3B

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB

Cutis laxa, X-linked

Cutis laxa-corneal clouding-oligophrenia syndrome

Cyanosis

Cyanosis transient neonatal

CYANOSIS, TRANSIENT NEONATAL

CYANOSIS, TRANSIENT NEONATEL

CYBPOLYMORPHISM

Cyclic haematopoiesis

CYCLIC NEUTROPENIA

Cyclical neutropenia

Cyclical vomiting syndrome

CYLINDROMATOSIS, FAMILIAL

CYP2A6*11

Cyp2a6, v1

CYP2E1*5B ALLELE

CYP2E1*6 ALLELE

CYP3A4 PROMOTER POLYMORPHISM

Cyp3a4-v

CYPA6*2

Cystathionine beta-synthase deficiency

Cystathionine beta-synthase deficiency (CBSD)

CYSTATHIONINURIA

Cystatin C

Cystatins

CYSTIC FIBROSIS

Cystic fibrosis severity

Cystic fibrosis-related diabetes

Cystic leukoencephalopathy without megalencephaly

Cystinosis

Cystinosis adult non-nephropathic type (CTNSANN)

Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN)

Cystinosis nephropathic type (CTNS)

CYSTINOSIS, ADULT NONNEPHROPATHIC

CYSTINOSIS, ATYPICAL NEPHROPATHIC

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

CYSTINOSIS, NEPHROPATHIC

CYSTINOSIS, OCULAR NONNEPHROPATHIC

CYSTINURIA

Cystinuria type A

Cystinuria type B

CYTOCHROME c OXIDASE DEFICIENCY (1 family)

Cytochrome c oxidase i deficiency

CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2

CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6

CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8

Cytochrome-c oxidase deficiency

Cytomegalic congenital adrenal hypoplasia

Cytomegalovirus antibody response

CZECH DYSPLASIA

Czech dysplasia metatarsal type

Czech dysplasia, metatarsal type

Top

D

D,L-2-hydroxyglutaric aciduria

D-2-@HYDROXYGLUTARIC ACIDURI1

D-2-@HYDROXYGLUTARIC ACIDURI2

D-2-alpha hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria 2

D-BIFUNCTIONAL PROTEIN DEFICIENCY

D-dimer levels

D-GLYCERIC ACIDURIA

Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

Dandy-Walker like malformation with atrioventricular septal defect

Dandy-Walker malformation with mental retardation basal ganglia disease and seizures

DANON DISEASE

Danon disease (DAND)

DARIER DISEASE

Darier disease (DD)

DARIER DISEASE, ACRAL HEMORRHAGIC TYPE

DARIER DISEASE, SEGMENTAL

DARIER-WHITE DISEASE

DDOST-CDG syndrome

DE LCHAPELLE DYSPLASIA

De Sanctis-Cacchione syndrome

De Sanctis-Cacchione syndrome (DSC)

Deafness - encephaloneuropathy - obesity - valvulopathy

Deafness - intellectual disability, Martin-Probst type

Deafness - lymphedema - leukemia

DEAFNESS AND MYOPIA

Deafness autosomal dominant type 10

Deafness autosomal dominant type 12

Deafness autosomal dominant type 13 (DFNA13)

Deafness autosomal dominant type 17 (DFNA17)

Deafness autosomal dominant type 23 (DFNA23)

Deafness autosomal dominant type 2B

Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1)

Deafness autosomal dominant type 5

Deafness autosomal recessive type 12

Deafness autosomal recessive type 1A

Deafness autosomal recessive type 1B

Deafness autosomal recessive type 2

Deafness autosomal recessive type 22

Deafness autosomal recessive type 29

Deafness autosomal recessive type 3

Deafness autosomal recessive type 35

Deafness autosomal recessive type 36 with or without vestibular involvement

Deafness autosomal recessive type 39

Deafness autosomal recessive type 49

Deafness autosomal recessive type 53 (DFNB53)

Deafness autosomal recessive type 67

Deafness autosomal recessive type 74

Deafness autosomal recessive type 77

Deafness autosomal recessive type 82

Deafness autosomal recessive type 9

Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

Deafness with labyrinthine aplasia, microtia and microdontia

Deafness with labyrinthine aplasia, microtia, and microdontia

Deafness X-linked type 1 (DFNX1)

Deafness, aminoglycoside-induced

DEAFNESS, AUTOSOMAL DOMINANT 1

DEAFNESS, AUTOSOMAL DOMINANT 10

DEAFNESS, AUTOSOMAL DOMINANT 11

DEAFNESS, AUTOSOMAL DOMINANT 12

DEAFNESS, AUTOSOMAL DOMINANT 13

DEAFNESS, AUTOSOMAL DOMINANT 15

DEAFNESS, AUTOSOMAL DOMINANT 17

DEAFNESS, AUTOSOMAL DOMINANT 20

DEAFNESS, AUTOSOMAL DOMINANT 22

DEAFNESS, AUTOSOMAL DOMINANT 23

DEAFNESS, AUTOSOMAL DOMINANT 25

DEAFNESS, AUTOSOMAL DOMINANT 28

DEAFNESS, AUTOSOMAL DOMINANT 2A

DEAFNESS, AUTOSOMAL DOMINANT 2B

DEAFNESS, AUTOSOMAL DOMINANT 36

DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECT1

DEAFNESS, AUTOSOMAL DOMINANT 3A

DEAFNESS, AUTOSOMAL DOMINANT 3B

DEAFNESS, AUTOSOMAL DOMINANT 3B (1 family)

DEAFNESS, AUTOSOMAL DOMINANT 4

DEAFNESS, AUTOSOMAL DOMINANT 41

DEAFNESS, AUTOSOMAL DOMINANT 44

DEAFNESS, AUTOSOMAL DOMINANT 48

DEAFNESS, AUTOSOMAL DOMINANT 4A

DEAFNESS, AUTOSOMAL DOMINANT 4B

DEAFNESS, AUTOSOMAL DOMINANT 5

DEAFNESS, AUTOSOMAL DOMINANT 56

DEAFNESS, AUTOSOMAL DOMINANT 6

DEAFNESS, AUTOSOMAL DOMINANT 64

DEAFNESS, AUTOSOMAL DOMINANT 9

DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC

Deafness, autosomal dominant nonsyndromic sensorineural 17

DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECT1

Deafness, autosomal dominant, 12

Deafness, autosomal dominant, 20

Deafness, autosomal dominant, 2A

Deafness, autosomal dominant, 2B

Deafness, autosomal dominant, 3A

Deafness, autosomal dominant, 48

Deafness, autosomal dominant, 4A

Deafness, autosomal dominant, 6

Deafness, autosomal dominant, 9

DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT

DEAFNESS, AUTOSOMAL RECESSIVE

DEAFNESS, AUTOSOMAL RECESSIVE 12

DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF

DEAFNESS, AUTOSOMAL RECESSIVE 15

DEAFNESS, AUTOSOMAL RECESSIVE 16

DEAFNESS, AUTOSOMAL RECESSIVE 18

DEAFNESS, AUTOSOMAL RECESSIVE 18A

DEAFNESS, AUTOSOMAL RECESSIVE 18B

DEAFNESS, AUTOSOMAL RECESSIVE 1A

DEAFNESS, AUTOSOMAL RECESSIVE 1B

DEAFNESS, AUTOSOMAL RECESSIVE 2

DEAFNESS, AUTOSOMAL RECESSIVE 21

DEAFNESS, AUTOSOMAL RECESSIVE 22

DEAFNESS, AUTOSOMAL RECESSIVE 23

DEAFNESS, AUTOSOMAL RECESSIVE 24

Deafness, autosomal recessive 25

DEAFNESS, AUTOSOMAL RECESSIVE 28

DEAFNESS, AUTOSOMAL RECESSIVE 29

DEAFNESS, AUTOSOMAL RECESSIVE 3

DEAFNESS, AUTOSOMAL RECESSIVE 30

DEAFNESS, AUTOSOMAL RECESSIVE 31

DEAFNESS, AUTOSOMAL RECESSIVE 35

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;

DEAFNESS, AUTOSOMAL RECESSIVE 37

DEAFNESS, AUTOSOMAL RECESSIVE 39

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT;

Deafness, autosomal recessive 42

DEAFNESS, AUTOSOMAL RECESSIVE 48

DEAFNESS, AUTOSOMAL RECESSIVE 49

DEAFNESS, AUTOSOMAL RECESSIVE 53

DEAFNESS, AUTOSOMAL RECESSIVE 59

DEAFNESS, AUTOSOMAL RECESSIVE 6

DEAFNESS, AUTOSOMAL RECESSIVE 61

DEAFNESS, AUTOSOMAL RECESSIVE 63

DEAFNESS, AUTOSOMAL RECESSIVE 67

DEAFNESS, AUTOSOMAL RECESSIVE 7

DEAFNESS, AUTOSOMAL RECESSIVE 70

DEAFNESS, AUTOSOMAL RECESSIVE 74

DEAFNESS, AUTOSOMAL RECESSIVE 76

DEAFNESS, AUTOSOMAL RECESSIVE 77

Deafness, autosomal recessive 79

Deafness, autosomal recessive 8

Deafness, autosomal recessive 81

Deafness, autosomal recessive 84

DEAFNESS, AUTOSOMAL RECESSIVE 84B

Deafness, autosomal recessive 86

DEAFNESS, AUTOSOMAL RECESSIVE 88

Deafness, autosomal recessive 89

DEAFNESS, AUTOSOMAL RECESSIVE 9

Deafness, autosomal recessive 91

DEAFNESS, AUTOSOMAL RECESSIVE 93

DEAFNESS, AUTOSOMAL RECESSIVE 98

Deafness, autosomal recessive, 12

Deafness, autosomal recessive, 1A

DEAFNESS, AUTOSOMAL RECESSIVE, 24

Deafness, autosomal recessive, 4

Deafness, autosomal recessive, 6

Deafness, autosomal recessive, 63

Deafness, autosomal recessive, 9

DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON

DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIAND CONSTRICTIONS OF

DEAFNESS, DIGENIC, GJB2/GJB3

Deafness, digenic, GJB2/GJB6

Deafness, Dystonia, and Central Hypomyelination with Disorganization of the Golgi Apparatus

DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION

Deafness, high-frequency sensorineural, X-linked

DEAFNESS, MITOCHONDRIAL, MODIFIER OF

DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49

Deafness, nonsyndromic sensorineural, mitochondrial

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND

DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY

DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES

DEAFNESS, WITH SMITH-MAGENIS SYNDROME

Deafness, without vestibular involvement, autosomal dominant

DEAFNESS, X-LINKED 1

DEAFNESS, X-LINKED 2

DEAFNESS, X-LINKED 4

DEAFNESS, X-LINKED 6

Deafness-infertility syndrome

DEBRISOQUINE, POOR METABOLISM OF

DEBRISOQUINE, ULTRARAPID METABOLISM OF

Decreased testicular size

Dedifferentiated liposarcoma

Deep dermatophytosis

DEEP VENOUS THROMBOSIS, PROTECTION AGAINST

Deeply set eye

Defect in the atrial septum

Deficiency of (R)-20-hydroxysteroid dehydrogenase

Deficiency of 2-methylbutyryl-Codehydrogenase

Deficiency of 3-hydroxyacyl-Codehydrogenase

Deficiency of acetyl-Coacetyltransferase

Deficiency of alpha-mannosidase

Deficiency of AMP pyrophorylase

Deficiency of aromatic-L-amino-acid decarboxylase

Deficiency of beta-ureidopropionase

Deficiency of butyryl-Codehydrogenase

Deficiency of butyrylcholine esterase

Deficiency of ferroxidase

Deficiency of galactokinase

Deficiency of glycerate kinase

Deficiency of glycerol kinase

Deficiency of guanidinoacetate methyltransferase

Deficiency of hyaluronoglucosaminidase

Deficiency of hydroxymethylglutaryl-Colyase

Deficiency of iodide peroxidase

Deficiency of isobutyryl-Codehydrogenase

Deficiency of malonyl-Codecarboxylase

Deficiency of phosphoserine phosphatase

Deficiency of pyrroline-5-carboxylate reductase

Deficiency of ribose-5-phosphate isomerase

Deficiency of steroid 11-beta-monooxygenase

Deficiency of transaldolase

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Deficiency of xanthine oxidase

Dehydratase deficiency

Dehydrated hereditary stomatocytosis

DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA

Dehydroepiandrosterone

Dehydroepiandrosterone sulphate levels

DEIODINASE, IODOTHYRONINE, TYPE I

Dejerine-Sottas disease

DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT

DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE

Dejerine-Sottas syndrome

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE

Dejerine-sottas syndrome, sporadic

Delayed CNS myelination

Delayed puberty

Delayed sleep phase syndrome

DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO

Delayed speech and language development

Delta Thalassemia

DELTA-0-THALASSEMIA

Delta-beta thalassemia

DELTA-PLUS-THALASSEMIA

DELTA-THALASSEMIA

DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE

Dementia familial British

DEMENTIA, FAMILIAL BRITISH

DEMENTIA, FRONTOTEMPORAL

DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM

DEMENTIA, LEWY BODY

Dementia, Lewy body, susceptibility to

DEND syndrome

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Dengue shock syndrome

DENGUE VIRUS, SUSCEPTIBILITY TO

Dense deposit disease

Dent disease 1

DENT DISEASE 2

Dent disease type 1

Dent disease type 2

Dental ankylosis

Dental caries

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY

Denticles

Dentin dysplasia 2

Dentin dysplasia type I

Dentin dysplasia type II

DENTIN DYSPLASIA, TYPE I

Dentin dysplasia, type I, with microdontia and misshapen teeth

DENTIN DYSPLASIA, TYPE II

DENTINOGENESIS IMPERFECT1

Dentinogenesis imperfecta - Shields type II

Dentinogenesis imperfecta - Shields type III

Dentinogenesis imperfecta type 2

Dentinogenesis imperfecta type 3

Dentinogenesis imperfecta, Shields type 2

Dentinogenesis imperfecta, Shields type 3

Dentinogenesis imperfecta, Shields type II

DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III

DENYS-DRASH SYNDROME

Depressed nasal bridge

Depression and alcohol dependence

Depression--quantitative trait

Depressive Disorder, Major

DERMATITIS, ATOPIC, 2

Dermatitis, atopic, 2, susceptibility to

Dermatitis, atopic, 6, susceptibility to

Dermato-cardio-skeletal syndrome, Borrone type

DERMATOFIBROSARCOMPROTUBERANS

Dermatofibrosis lenticularis disseminata

Dermatofibrosis lenticularis disseminata, isolated

Dermatomyositis

DERMATOPATHIPIGMENTOSA RETICULARIS

DESBUQUOIS DYSPLASI1

DESBUQUOIS DYSPLASI2

Desbuquois dysplasia

Desbuquois syndrome

Desmin-related myopathy with Mallory body-like inclusions

Desminopathy

DESMOID DISEASE, HEREDITARY

Desmoid tumor, somatic

Desmoplastic small round cell tumor

Desmoplastic/nodular medulloblastoma

DESMOSTEROLOSIS

Desquamative interstitial pneumonia

DEUTERANOMALY

Developmental and expressive language delay

Developmental and speech delay due to SOX5 deficiency

Developmental delay - deafness, Hildebrand type

Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing

Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing; (female)

Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing; (male)

Developmental delay AND/OR other significant developmental or morphological phenotypes

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type

Developmental disorder

Developmental malformations - deafness - dystonia

DEVELOPMENTAL VERBAL DYSPRAXIA

Dextrocardia

DFN2 Nonsyndromic Hearing Loss

DH BLOOD GROUP

Diabetes (gestational)

Diabetes (incident)

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE

Diabetes insipidus, nephrogenic, X-linked

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE

Diabetes Mellitus

Diabetes mellitus AND insipidus with optic atrophy AND deafness

Diabetes mellitus neonatal with congenital hypothyroidism (NDH)

Diabetes mellitus type 2

Diabetes mellitus with hyperinsulinemia

Diabetes Mellitus, 6q24-Related Transient Neonatal

DIABETES MELLITUS, GESTATIONAL

DIABETES MELLITUS, INSULIN-DEPENDENT

DIABETES MELLITUS, INSULIN-DEPENDENT, 10

DIABETES MELLITUS, INSULIN-DEPENDENT, 12

DIABETES MELLITUS, INSULIN-DEPENDENT, 19

DIABETES MELLITUS, INSULIN-DEPENDENT, 2

DIABETES MELLITUS, INSULIN-DEPENDENT, 20

DIABETES MELLITUS, INSULIN-DEPENDENT, 22

DIABETES MELLITUS, INSULIN-DEPENDENT, 5

DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO

DIABETES MELLITUS, INSULIN-RESISTANT

DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS

DIABETES MELLITUS, KETOSIS-PRONE

DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO

DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM

Diabetes mellitus, non-insulin-dependent

DIABETES MELLITUS, NONINSULIN-DEPENDENT

DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1

DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH

DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET

Diabetes mellitus, noninsulin-dependent, maternally transmitted

DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF

DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO

DIABETES MELLITUS, PERMANENT NEONATAL

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES

DIABETES MELLITUS, TRANSIENT NEONATAL, 1

DIABETES MELLITUS, TRANSIENT NEONATAL, 2

DIABETES MELLITUS, TRANSIENT NEONATAL, 3

Diabetes Mellitus, Type 1

DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO

DIABETES MELLITUS, TYPE 2

DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO

DIABETES MELLITUS, TYPE II

DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT

DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO

Diabetes related insulin traits

DIABETES, TYPE II, SUSCEPTIBILITY TO

Diabetes-deafness syndrome maternally transmitted

Diabetic Nephropathies

Diabetic retinopathy

Dialysis-related mortality

DIAMOND-BLACKFAN ANEMI1

DIAMOND-BLACKFAN ANEMI10

DIAMOND-BLACKFAN ANEMI11

DIAMOND-BLACKFAN ANEMI12

DIAMOND-BLACKFAN ANEMI3

DIAMOND-BLACKFAN ANEMI4

DIAMOND-BLACKFAN ANEMI5

DIAMOND-BLACKFAN ANEMI6

DIAMOND-BLACKFAN ANEMI7

DIAMOND-BLACKFAN ANEMI8

DIAMOND-BLACKFAN ANEMI9

Diaphanospondylodysostosis

DIAPHRAGMATIC HERNI3

Diaphyseal dysplasia

Diaphyseal medullary stenosis - bone malignancy

DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;

DIARRHE1, SECRETORY CHLORIDE, CONGENITAL

DIARRHE2, WITH MICROVILLUS ATROPHY

DIARRHE3, SECRETORY SODIUM, CONGENITAL

DIARRHE3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC

DIARRHE4, MALABSORPTIVE, CONGENITAL

DIARRHE5, WITH TUFTING ENTEROPATHY, CONGENITAL

DIARRHE6

DIARRHE7

Diarrhea

Diarrhea-vomiting due to trehalase deficiency

Diastolic blood pressure

Diastolic blood pressure (alcohol consumption interaction)

Diastrophic dwarfism

Diastrophic dysplasia

Diastrophic dysplasia (DTD)

DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

DIEGO BLOOD GROUP ANTIGEN

Dietary macronutrient intake

Diffuse cutaneous systemic sclerosis

Diffuse mesangial sclerosis

Diffuse palmoplantar keratoderma with painful fissures

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse panbronchiolitis

DiGeorge sequence

DIGEORGE SYNDROME

Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)

Digit length ratio

DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL

DIGITAL CLUBBING, ISOLATED CONGENITAL

Digitorenocerebral syndrome

Digitotalar dysmorphism

Dihydrolipoamide Dehydrogenase (E3) Deficiency

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

Dihydropteridine reductase deficiency

DIHYDROPYRIMIDINASE DEFICIENCY

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Dihydropyrimidinuria

Dilated cardiomyopathy

Dilated cardiomyopathy - hypergonadotropic hypogonadism

Dilated cardiomyopathy 1A

Dilated cardiomyopathy 1AA

Dilated cardiomyopathy 1C

Dilated cardiomyopathy 1CC

Dilated cardiomyopathy 1DD

Dilated cardiomyopathy 1E

Dilated cardiomyopathy 1EE

Dilated cardiomyopathy 1FF

Dilated cardiomyopathy 1G

Dilated cardiomyopathy 1GG

Dilated cardiomyopathy 1HH

Dilated cardiomyopathy 1I

Dilated cardiomyopathy 1II

Dilated cardiomyopathy 1JJ

Dilated cardiomyopathy 1KK

Dilated cardiomyopathy 1L

Dilated cardiomyopathy 1LL

Dilated cardiomyopathy 1M

Dilated cardiomyopathy 1N

Dilated cardiomyopathy 1O

Dilated cardiomyopathy 1P

Dilated cardiomyopathy 1R

Dilated cardiomyopathy 1S

Dilated cardiomyopathy 1T

Dilated cardiomyopathy 1V

Dilated cardiomyopathy 1W

Dilated cardiomyopathy 1X

Dilated cardiomyopathy 1Y

Dilated cardiomyopathy 1Z

Dilated cardiomyopathy 3B

Dilated cardiomyopathy with ataxia

Dilated cardiomyopathy with left ventricular noncompaction

DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY

Disc degeneration (lumbar)

DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Disseminated atypical mycobacterial infection

Disseminated superficial actinic porokeratosis

Distal 16p11.2 microdeletion syndrome

Distal 17p13.3 microdeletion syndrome

Distal 22q11.2 microdeletion syndrome

Distal arthrogryposis

Distal arthrogryposis type (DA7)

Distal arthrogryposis type 1B

Distal arthrogryposis type 2(DA2A)

Distal arthrogryposis type 2B

Distal arthrogryposis type 2B (DA2B)

Distal arthrogryposis type 5D

Distal hereditary motor neuronopathy 2D

Distal hereditary motor neuronopathy type 2A

Distal hereditary motor neuronopathy type 2B

Distal hereditary motor neuronopathy type 2C

Distal hereditary motor neuronopathy type 5

Distal hereditary motor neuronopathy type 5B

Distal hereditary motor neuronopathy type 7B

Distal hereditary motor neuropathy type 2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type 7

Distal monosomy 12p

Distal monosomy 15q

Distal monosomy 1q

Distal monosomy 3p

Distal myopathy Markesbery-Griggs type

Distal myopathy with anterior tibial onset

Distal myopathy with posterior leg and anterior hand involvement

Distal myopathy with vocal cord weakness

Distal myopathy, Nonaka type

Distal myopathy, Tateyama type

Distal myopathy, Welander type

Distal myotilinopathy

Distal renal tubular acidosis with anemia

Distal renal tubular acidosis with deafness

Distal spinal muscular atrophy, autosomal recessive 4

Distal spinal muscular atrophy, congenital nonprogressive

Distal spinal muscular atrophy, X-linked 3

Distichiasis-lymphedema syndrome

Distinct DNbreakage syndrome

DK1-CDG syndrome

DKC1-Related Dyskeratosis Congenita

DMGDH deficiency

DNLIGASE I DEFICIENCY

DNmethylation (parent-of-origin)

DNmethylation (variation)

DNTOPOISOMERASE I, CAMPTOTHECIN-RESISTANT

DNTOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE

DOMBROCK BLOOD GROUP

DOMBROCK-NULL PHENOTYPE

Dominant beta-thalassemia

Dominant dystrophic epidermolysis bullosa with absence of skin

Dominant hereditary optic atrophy

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Dominant late-onset Fuchs corneal dystrophy

Dominant nonimmune chronic idiopathic neutropenia of adults

Donnai Barrow syndrome

DONNAI-BARROW SYNDROME

DONOHUE SYNDROME

DOORS syndrome

Dopa-Responsive Dystonia

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Dopamine beta hydroxylase deficiency

DOPAMINE BETA-HYDROXYLASE DEFICIENCY

DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL

DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF

DOPAMINE RECEPTOR D4 POLYMORPHISM

DOPAMINE RECEPTOR D5

Dorfman-Chanarin disease

Double outlet right ventricle

DOUBLE-OUTLET RIGHT VENTRICLE

DOWLING-DEGOS DISEASE

DOWLING-DEGOS DISEASE 1

Dowling-Degos disease 2

DOWLING-DEGOS DISEASE 4

Down syndrome, susceptibility to

Downslanted palpebral fissures

DOYNE HONEYCOMB RETINAL DYSTROPHY

DPAGT1-CDG (CDG-Ij)

DPAGT1-CDG syndrome

DPM1-CDG syndrome

DPM3-CDG syndrome

Drash syndrome

DRAVET SYNDROME

Drinking behavior

DRUG ADDICTION, SUSCEPTIBILITY TO

DRUG METABOLISM, POOR, CYP2C19-RELATED

DRUG METABOLISM, POOR, CYP2D6-RELATED

Drug-induced liver injury

Drug-induced liver injury (amoxicillin-clavulanate)

Drug-induced liver injury (flucloxacillin)

Drug-induced torsades de pointes

Du Pan syndrome

DUANE RETRACTION SYNDROME 2

Duane syndrome type 2

DUANE-RADIAL RAY SYNDROME

DUBIN-JOHNSON SYNDROME

Dubowitz syndrome

DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD)

DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE

DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE

DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE

DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM

Duodenal atresia

Duodenal ulcer

Dupuytren's disease

Dursun syndrome

DYGGVE-MELCHIOR-CLAUSEN DISEASE

Dyggve-Melchior-Clausen syndrome

Dyggve-Melchior-Clausen syndrome (DMC)

DYSALBUMINEMIC HYPERTHYROXINEMIA

DYSAUTONOMIA, FAMILIAL

DYSBETALIPOPROTEINEMIDUE TO APOE2

DYSCHROMATOSIS SYMMETRICHEREDITARIA

DYSCHROMATOSIS SYMMETRICHEREDITARIA 1

Dyschromatosis universalis hereditaria 3

Dysequilibrium syndrome

Dyserythropoietic anemia with thrombocytopenia

Dysfibrinogenemia

Dysfibrinogenemia causing bleeding diathesis

Dysgnathia complex

Dyskeratosis congenita

Dyskeratosis congenita autosomal dominant

Dyskeratosis congenita autosomal recessive

Dyskeratosis congenita X-linked

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3

Dyskeratosis congenita, autosomal dominant, 4

Dyskeratosis congenita, autosomal recessive 2

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3

Dyskeratosis congenita, autosomal recessive, 4

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5

DYSKERATOSIS CONGENITA, X-LINKED

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

Dyslexia 1

DYSLEXIA, SUSCEPTIBILITY TO, 1

DYSLEXIA, SUSCEPTIBILITY TO, 2

Dysosteosclerosis

Dysphasia

DYSPLASMINOGENEMIA

DYSPROTHROMBINEMIA

DYSPROTHROMBINEMIPROTHROMBIN HIMI-II

Dyssegmental dysplasia Silverman-Handmaker type (DDSH)

Dyssegmental dysplasia, Silverman-Handmaker type

Dysspondyloenchondromatosis

DYSTONI1, TORSION, AUTOSOMAL DOMINANT

DYSTONI1, TORSION, MODIFIER OF

DYSTONI12

DYSTONI16

DYSTONI24

DYSTONI25

DYSTONI3, TORSION, X-LINKED

DYSTONI4, TORSION, AUTOSOMAL DOMINANT

DYSTONI6, TORSION

DYSTONI9

Dystonia 1

Dystonia 1, torsion, late-onset

Dystonia 10

Dystonia 18

Dystonia 5

Dystonia 5, Dopa-responsive type

Dystonia type 5 (DYT5)

Dystonia, adult-onset

DYSTONIA, DOPA-RESPONSIVE

DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE

DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES

DYSTONIA, JUVENILE-ONSET

DYSTONIA, MITOCHONDRIAL

DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA

Dystrophia myotonica type 1 (DM1)

Dystrophic epidermolysis bullosa pruriginosa

Dystrophic epidermolysis bullosa, nails only

Top

E

E-Selectin

E-selectin levels

Ear-patella-short stature syndrome

Early infantile epileptic encephalopathy

Early infantile epileptic encephalopathy 10

Early infantile epileptic encephalopathy 11

Early infantile epileptic encephalopathy 13

Early infantile epileptic encephalopathy 14

Early infantile epileptic encephalopathy 16

Early infantile epileptic encephalopathy 18

Early infantile epileptic encephalopathy 2

Early infantile epileptic encephalopathy 4

Early infantile epileptic encephalopathy 5

Early infantile epileptic encephalopathy 7

Early infantile epileptic encephalopathy 8

Early infantile epileptic encephalopathy 9

Early infantile epileptic encephalopathy without suppression burst

Early myoclonic encephalopathy

Early-onset autosomal dominant Alzheimer disease

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2mutation

Early-onset generalized limb-onset dystonia

Early-onset hypertension with severe exacerbation in pregnancy

Early-onset Lafora body disease

Early-onset myopathy with fatal cardiomyopathy

Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

Early-onset spastic ataxia-neuropathy syndrome

EAST syndrome

East Texas bleeding disorder

Eating disorders

Eating disorders (purging via substances)

Ebstein malformation

Echocardiographic traits

Echocardiography

Economic and political preferences

Economic and political preferences (environmentalism)

Economic and political preferences (fairness)

Economic and political preferences (feminism/equality)

Economic and political preferences (immigration/crime)

Economic and political preferences (time)

ECTODERMAL DYSPLASI1, HYPOHIDROTIC, X-LINKED

ECTODERMAL DYSPLASI10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;

ECTODERMAL DYSPLASI10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT

ECTODERMAL DYSPLASI10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL

ECTODERMAL DYSPLASI10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE

ECTODERMAL DYSPLASI11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL

ECTODERMAL DYSPLASI11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT

ECTODERMAL DYSPLASI11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL

ECTODERMAL DYSPLASI11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE

ECTODERMAL DYSPLASI7, HAIR/NAIL TYPE (1 family)

ECTODERMAL DYSPLASI9, HAIR/NAIL TYPE

Ectodermal dysplasia - syndactyly syndrome

Ectodermal dysplasia 2, Clouston type

Ectodermal dysplasia 4, hair/nail type

Ectodermal dysplasia 7, hair/nail type

Ectodermal dysplasia anhidrotic with immunodeficiency X-linked

Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID)

Ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphedema (OLEDAID)

Ectodermal dysplasia Rapp-Hodgkin type (EDRH)

Ectodermal dysplasia skin fragility syndrome

Ectodermal dysplasia type 1

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY

ECTODERMAL DYSPLASIA, HIDROTIC

ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY

Ectodermal dysplasia, pure hair-nail type

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1

ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME

Ectopia lentis, isolated autosomal recessive

ECTOPILENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

ECTOPILENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE

ECTOPILENTIS ET PUPILLAE

ECTOPILENTIS, ISOLATED, AUTOSOMAL DOMINANT

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3)

Edema

EDICT syndrome

Educational attainment

EEC syndrome

EEG abnormality

EEM syndrome

Efavirenz central nervous system toxicity, susceptibility to

EFAVIRENZ, POOR METABOLISM OF

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (progeroid form)

Ehlers-Danlos syndrome 1

Ehlers-Danlos syndrome 2

Ehlers-Danlos syndrome 6

Ehlers-Danlos syndrome due to tenascin-X deficiency

Ehlers-Danlos syndrome musculocontractural type

Ehlers-Danlos syndrome progeroid type

Ehlers-Danlos syndrome progeroid type (EDSP)

Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome type 2

Ehlers-Danlos syndrome type 3 (EDS3)

Ehlers-Danlos syndrome type 4 (EDS4)

Ehlers-Danlos syndrome type 7A

Ehlers-Danlos syndrome type 7B

Ehlers-Danlos Syndrome Type VIIA

Ehlers-Danlos syndrome with periventricular heterotopia

EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY,

Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM

Ehlers-Danlos syndrome, cardiac valvular type

Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related

Ehlers-Danlos syndrome, dermatosparaxis type

Ehlers-Danlos syndrome, hydroxylysine-deficient

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Ehlers-Danlos Syndrome, Kyphoscoliotic Form

Ehlers-Danlos syndrome, kyphoscoliotic type

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1

Ehlers-Danlos syndrome, musculocontractural type 2

Ehlers-Danlos syndrome, progeroid type

EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1

Ehlers-Danlos syndrome, progeroid type, 2

Ehlers-Danlos syndrome, spondylocheiro dysplastic type

Ehlers-Danlos syndrome, type 1

Ehlers-Danlos syndrome, type 2

Ehlers-Danlos syndrome, type 3

Ehlers-Danlos syndrome, type 4

Ehlers-Danlos syndrome, type 4 variant

Ehlers-Danlos syndrome, type 7B

Ehlers-Danlos syndrome, type 7C

EHLERS-DANLOS SYNDROME, TYPE I

EHLERS-DANLOS SYNDROME, TYPE II

EHLERS-DANLOS SYNDROME, TYPE III

EHLERS-DANLOS SYNDROME, TYPE IV

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT

EHLERS-DANLOS SYNDROME, TYPE VI

EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT

EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE

Ehlers-Danlos syndrome, vascular type

Ehlers-Danlos syndrome, vascular-like type

Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS)

EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY

Ehlers-Danlos/osteogenesis imperfecta syndrome

EHMT1-like Intellectual Disability

Eichsfeld type congenital muscular dystrophy

EIKEN SKELETAL DYSPLASIA

Eiken skeletal dysplasia (EISD)

EIKEN SYNDROME

Ejection fraction in Tripanosoma cruzi seropositivity

Elbow

Electrocardiographic conduction measures

Electrocardiographic traits

Electrocardiography

Electroencephalographic traits in alcoholism

ELEJALDE DISEASE

Elejalde syndrome (ELEJAS)

ELLIPTOCYTOSIS 1

ELLIPTOCYTOSIS 2

ELLIPTOCYTOSIS 3

ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA

ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO

Ellis Van Creveld syndrome

ELLIS-VAN CREVELD SYNDROME

Ellis-van Creveld syndrome (EVC)

ELN-Related Cutis Laxa

Emberger syndrome

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT

EMERY-DREIFUSS MUSCULAR DYSTROPHY 4

EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Emery-Dreifuss muscular dystrophy 4, autosomal recessive

EMERY-DREIFUSS MUSCULAR DYSTROPHY 5

Emery-dreifuss muscular dystrophy 5, autosomal dominant

EMERY-DREIFUSS MUSCULAR DYSTROPHY 6

Emery-Dreifuss muscular dystrophy 6, X-linked

EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT

Emery-Dreifuss muscular dystrophy type 2

EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE

EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT

EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED

Emphysema, susceptibility to

Emphysema-related traits

Enamel-renal syndrome

Encephalocardiomyopathy, mitochondrial

Encephalocele

Encephalopathy

Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease

Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Encephalopathy due to GLUT1 deficiency

Encephalopathy due to hydroxykynureninuria

Encephalopathy due to prosaposin deficiency

Encephalopathy neonatal severe due to MECP2 mutations (ENS-MECP2)

Encephalopathy, acute, infection-induced, 4, susceptibility to

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4

ENCEPHALOPATHY, ETHYLMALONIC

Encephalopathy, familial progressive necrotizing

ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES

ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL

ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION

ENCEPHALOPATHY, MITOCHONDRIAL

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY

Enchondromatosis

ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE

End stage renal disease

End-stage coagulation

End-stage renal disease

End-stage renal disease (non-diabetic)

End-stage renal disease in Type 1 diabetics

Endocrine-cerebro-osteodysplasia syndrome

ENDOCRINE-CEREBROOSTEODYSPLASIA

ENDOMETRIAL CANCER

Endometrial carcinoma

ENDOMETRIAL CARCINOMA, SOMATIC

Endometriosis

Endomyocardial fibroelastosis

Endosteal hyperostosis Worth type (WENHY)

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT

Endothelial function traits

ENDOTOXIN HYPORESPONSIVENESS

ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY

Enhanced S cone syndrome

ENHANCED S-CONE SYNDROME

Enlarged Parietal Foramina/Cranium Bifidum

Enlarged vestibular aqueduct syndrome

ENTEROKINASE DEFICIENCY

Entorhinal cortical thickness

Eosinophil counts

EOSINOPHIL PEROXIDASE DEFICIENCY

Eosinophilic esophagitis (pediatric)

Eosinophils

Ependymoma

Epidermal nevus

Epidermal nevus syndrome

EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC

EPIDERMODYSPLASIVERRUCIFORMIS

Epidermolysa bullosa simplex and limb girdle muscular dystrophy

Epidermolysis bullosa dystrophica, autosomal recessive, modifier of

Epidermolysis bullosa dystrophica, Hallopeau-Siemens type

Epidermolysis bullosa herpetiformis, Dowling-Meara

Epidermolysis bullosa simplex due to plakophilin deficiency

Epidermolysis bullosa simplex superficialis

Epidermolysis bullosa simplex Weber-Cockayne type

Epidermolysis bullosa simplex with circinate migratory erythema

Epidermolysis bullosa simplex, autosomal recessive 2

Epidermolysis bullosa simplex, Cockayne-Touraine type

Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma

Epidermolysis bullosa simplex, Koebner type

Epidermolysis bullosa simplex, with mottled pigmentation

Epidermolysis Bullosa with Pyloric Atresia

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATVARIANT

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA

EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC

EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSDYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSDYSTROPHICA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSDYSTROPHICA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSDYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

EPIDERMOLYSIS BULLOSDYSTROPHICA, PRETIBIAL

EPIDERMOLYSIS BULLOSJUNCTIONALIS WITH PYLORIC ATRESIA

EPIDERMOLYSIS BULLOSPRURIGINOSA

EPIDERMOLYSIS BULLOSPRURIGINOSA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSPRURIGINOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSSIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA

EPIDERMOLYSIS BULLOSSIMPLEX WITH MOTTLED PIGMENTATION

EPIDERMOLYSIS BULLOSSIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP

EPIDERMOLYSIS BULLOSSIMPLEX WITH MUSCULAR DYSTROPHY

EPIDERMOLYSIS BULLOSSIMPLEX WITH PYLORIC ATRESIA

EPIDERMOLYSIS BULLOSSIMPLEX, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSSIMPLEX, AUTOSOMAL RECESSIVE 1

EPIDERMOLYSIS BULLOSSIMPLEX, DOWLING-MEARA TYPE

EPIDERMOLYSIS BULLOSSIMPLEX, GENERALIZED

EPIDERMOLYSIS BULLOSSIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS

EPIDERMOLYSIS BULLOSSIMPLEX, LOCALIZED

EPIDERMOLYSIS BULLOSSIMPLEX, OGNA TYPE

EPIDERMOLYSIS BULLOSWITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND

EPIDERMOLYTIC HYPERKERATOSIS

Epidermolytic ichthyosis

Epidermolytic palmoplantar keratoderma

Epilepsy

Epilepsy (generalized)

Epilepsy (remission after treatment)

Epilepsy juvenile absence

Epilepsy with grand mal seizures on awakening

Epilepsy with neurodevelopmental defects

Epilepsy, childhood absence 2

Epilepsy, childhood absence 5

Epilepsy, childhood absence 6

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6

Epilepsy, familial adult myoclonic, 5

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI

EPILEPSY, FAMILIAL TEMPORAL LOBE, 1

EPILEPSY, FAMILIAL TEMPORAL LOBE, 5

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION;

EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9

Epilepsy, generalized, with febrile seizures plus, type 1

Epilepsy, idiopathic generalized 10

Epilepsy, idiopathic generalized 6

Epilepsy, idiopathic generalized 8

Epilepsy, idiopathic generalized 9

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9

Epilepsy, juvenile absence 2

EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1

Epilepsy, juvenile myoclonic 5

Epilepsy, juvenile myoclonic 6

Epilepsy, juvenile myoclonic 7

Epilepsy, juvenile myoclonic 8

EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5

EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6

EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8

EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT

Epilepsy, mitochondrial

EPILEPSY, MYOCLONIC JUVENILE

EPILEPSY, NOCTURNAL FRONTAL LOBE, 1

EPILEPSY, NOCTURNAL FRONTAL LOBE, 3

EPILEPSY, NOCTURNAL FRONTAL LOBE, 4

EPILEPSY, NOCTURNAL FRONTAL LOBE, 5

EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1

EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3

EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4

EPILEPSY, PROGRESSIVE MYOCLONIC 1B

Epilepsy, progressive myoclonic 2

EPILEPSY, PROGRESSIVE MYOCLONIC 2A

EPILEPSY, PROGRESSIVE MYOCLONIC 2B

Epilepsy, progressive myoclonic 3

EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS

EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS;

EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE

EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE;

EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH RENAL FAILURE

EPILEPSY, PROGRESSIVE MYOCLONIC 5

EPILEPSY, PROGRESSIVE MYOCLONIC 6

EPILEPSY, PYRIDOXINE-DEPENDENT

EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR

EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS

Epileptic encephalopathies

Epileptic encephalopathy

Epileptic encephalopathy early infantile type 1 (EIEE1)

Epileptic encephalopathy early infantile type 2 (EIEE2)

Epileptic encephalopathy early infantile type 4 (EIEE4)

Epileptic encephalopathy early infantile type 5 (EIEE5)

Epileptic encephalopathy early infantile type 7 (EIEE7)

Epileptic encephalopathy early infantile type 9 (EIEE9)

Epileptic encephalopathy Lennox-Gastaut type

Epileptic encephalopathy Lennox-Gastaut type (EELG)

Epileptic encephalopathy with global cerebral demyelination

Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Epileptic encephalopathy, childhood-onset

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1

Epileptic encephalopathy, early infantile, 10

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11

Epileptic Encephalopathy, Early Infantile, 12

Epileptic encephalopathy, early infantile, 13

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9

Epimerase-deficiency galactosemia

Epimerase-deficiency galactosemia (EDG)

EPIPHYSEAL DYSPLASIA, MULTIPLE, 1

EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD

EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE

EPIPHYSEAL DYSPLASIA, MULTIPLE, 2

EPIPHYSEAL DYSPLASIA, MULTIPLE, 3

EPIPHYSEAL DYSPLASIA, MULTIPLE, 4

EPIPHYSEAL DYSPLASIA, MULTIPLE, 5

EPIPHYSEAL DYSPLASIA, MULTIPLE, 6

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIAND CONDUCTIVE DEAFNESS

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIAND CONDUCTIVE DEAFNESS;

Epirubicin-induced leukopenia

Episodic ataxia 1

Episodic ataxia 2

Episodic ataxia 5

Episodic ataxia type 1

Episodic ataxia type 2

Episodic ataxia type 5

Episodic ataxia type 6

EPISODIC ATAXIA, TYPE 1

EPISODIC ATAXIA, TYPE 2

Episodic ataxia, type 2, and epilepsy

EPISODIC ATAXIA, TYPE 5

EPISODIC ATAXIA, TYPE 6

EPISODIC KINESIGENIC DYSKINESI1

EPISODIC PAIN SYNDROME, FAMILIAL

EPISODIC PAIN SYNDROME, FAMILIAL, 1

EPISODIC PAIN SYNDROME, FAMILIAL, 2

Episodic pain syndrome, familial, 3

Episodic vomiting

Epispadias

EPOXIDE HYDROLASE 1, MICROSOMAL

EPOXIDE HYDROLASE POLYMORPHISM

EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY

EPSTEIN SYNDROME

Epstein syndrome (EPS)

Epstein-Barr virus immune response (EBNA-1)

ERBB2 POLYMORPHISM

Erectile dysfunction

Erectile dysfunction and prostate cancer treatment

ERYTHERMALGIA, PRIMARY

ERYTHROCYTE AMP DEAMINASE DEFICIENCY

Erythrocyte Count

Erythrocyte galactose epimerase deficiency

Erythrocyte Indices

ERYTHROCYTE LACTATE TRANSPORTER DEFECT

Erythrocyte sedimentation rate

Erythrocytes

Erythrocytosis

ERYTHROCYTOSIS, FAMILIAL, 1

ERYTHROCYTOSIS, FAMILIAL, 2

ERYTHROCYTOSIS, FAMILIAL, 3

ERYTHROCYTOSIS, FAMILIAL, 4

ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC

ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS,

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige

ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR

Erythrokeratodermia variabilis

ERYTHROKERATODERMIVARIABILIS ET PROGRESSIVA

Erythromelalgia

Erythropoietic protoporphyria

Esophageal adenocarcinoma

Esophageal atresia

ESOPHAGEAL CANCER

Esophageal cancer (alcohol interaction)

Esophageal cancer (squamous cell)

Esophageal cancer and gastric cancer

ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO

ESOPHAGEAL CANCER, SOMATIC

ESOPHAGEAL CARCINOMA, SOMATIC

Esophageal squamous cell cancer (length of survival)

ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC

Esophagus cancer samples

Essential fructosuria

Essential thrombocythemia

Essential tremor

Essential tremor, susceptibility to

Estradiol levels

Estradiol plasma levels (breast cancer)

ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE

ESTROGEN RESISTANCE

Estrogen resistance syndrome

Ethylmalonic encephalopathy

Event-related brain oscillations

Ewing sarcoma

Exercise (leisure time)

Exercise intolerance

EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC

Exercise intolerance, cardiomyopathy, and septooptic dysplasia

Exercise intolerance, muscle pain, and lactic acidemia

Exercise stress response, impaired, association with

Exercise Test

Exercise treadmill test traits

Exercise-induced hyperinsulinemic hypoglycemia

Exercise-induced hyperinsulinism

EXFOLIATION SYNDROME

EXFOLIATION SYNDROME, SUSCEPTIBILITY TO

Exfoliative ichthyosis

Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like

EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSOF

EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL

EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS

Exostoses, multiple, type 2

EXOSTOSES, MULTIPLE, TYPE I

EXOSTOSES, MULTIPLE, TYPE II

Exotropia

Expressive language delay

External auditory canal aplasia/hypoplasia

Extraskeletal Ewing sarcoma

Extraskeletal myxoid chondrosarcoma

Extreme myopia;Myopia 23, autosomal recessive

EXUDATIVE VITREORETINOPATHY 1

EXUDATIVE VITREORETINOPATHY 2, X-LINKED

EXUDATIVE VITREORETINOPATHY 4

EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT

EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE

EXUDATIVE VITREORETINOPATHY 4, DIGENIC

EXUDATIVE VITREORETINOPATHY 5

Exudative vitreoretinopathy, digenic

EXUDATIVE VITREORETINOPATHY, X-LINKED

Eye color

Eye color traits

Ezetimibe response

EZETIMIBE, NONRESPONSE TO

Top

F

F-BOX ONLY PROTEIN 25

F-cell distribution

FABRY DISEASE

FABRY DISEASE, CARDIAC VARIANT

Fabrys disease

Facial cleft

Facial clefting, oblique, 1

Facial dysmorphism - immunodeficiency - livedo - short stature

FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE

FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS

Facial morphology

FACIAL PARESIS, HEREDITARY CONGENITAL, 3

Facioscapulohumeral dystrophy

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2

Facioscapulohumeral muscular dystrophy type 2

FACTOR B FAST-SLOW POLYMORPHISM

Factor B fast/slow polymorphism

Factor H deficiency

Factor II deficiency

FACTOR IX POLYMORPHISM

FACTOR IX, DNPOLYMORPHISM

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2

FACTOR V DEFICIENCY

FACTOR V HONG KONG

Factor VII

FACTOR VII DEFICIENCY

Factor VII Marburg I Variant Thrombophilia

FACTOR VII-ACTIVATING PROTEASE MARBURG I

FACTOR VIII (EAST HARTFORD)

FACTOR VIII (OKAYAMA)

FACTOR VIII DEFICIENCY

FACTOR X DEFICIENCY

FACTOR XI DEFICIENCY

FACTOR XII (LOCARNO)

FACTOR XII (TENRI)

FACTOR XII DEFICIENCY

Factor XII deficiency disease

FACTOR XII POLYMORPHISM

FACTOR XIII, B SUBUNIT, DEFICIENCY OF

FACTOR XIII, SUBUNIT, DEFICIENCY OF

FADD-related immunodeficiency

Fahrs syndrome

FAILURE OF TOOTH ERUPTION, PRIMARY

Failure to thrive

Faisalabad histiocytosis

Familial hyperprolactinemia

Familial abdominal aortic aneurysm

Familial acute necrotizing encephalopathy

Familial adenomatous polyposis

FAMILIAL ADENOMATOUS POLYPOSIS 1

FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED

FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO

FAMILIAL ADENOMATOUS POLYPOSIS 2

Familial adenomatous polyposis due to 5q22.2 microdeletion

FAMILIAL ADENOMATOUS POLYPOSIS, 2

FAMILIAL ADVANCED SLEEP-PHASE SYNDROME

Familial afibrinogenemia

Familial Alzheimer-like prion disease

Familial amyloid nephropathy with urticaria AND deafness

Familial amyloid polyneuropathy

Familial amyloidosis, Finnish type

Familial aortic dissection

Familial aortopathy

Familial aplasia of the vermis

Familial apolipoprotein C-II deficiency

Familial atrial fibrillation

Familial atrial myxoma

Familial avascular necrosis of femoral head

Familial benign chronic pemphigus

Familial benign flecked retina

Familial benign hypercalcemia

Familial benign pemphigus

Familial calcium pyrophosphate deposition

Familial cancer not matching LFS

Familial cancer of breast

Familial candidiasis type 7 (CANDF7)

Familial capillary hemangioma

Familial caudal dysgenesis

Familial cerebral saccular aneurysm

Familial clubfoot due to 17q23.1q23.2 microduplication

Familial clubfoot due to 5q31 microdeletion

Familial clubfoot due to PITX1 point mutation

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3

Familial cold urticaria

Familial colorectal cancer

Familial congenital mirror movements

Familial congenital palsy of trochlear nerve

Familial cortical myoclonus

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Familial cylindromatosis

Familial dementia, British type

Familial dementia, Danish type

Familial Diarrhea DIARRHE6

Familial digital arthropathy-brachydactyly

Familial dilated cardiomyopathy with conduction defect due to LMNmutation

Familial drusen

Familial dysautonomia

Familial dysfibrinogenemia

Familial dyskinesia and facial myokymia

Familial encephalopathy with neuroserpin inclusion bodies

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Familial erythrocytosis, 1

FAMILIAL EXPANSILE OSTEOLYSIS

Familial exudative vitreoretinopathy

Familial febrile seizures 8

Familial focal epilepsy with variable foci (FFEVF)

Familial gastric cancer

Familial gestational hyperthyroidism

Familial glucocorticoid deficiency

Familial hemiplegic migraine type 1

Familial hemiplegic migraine type 2

Familial hemiplegic migraine type 3

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis 2

Familial hibernian fever

Familial Horizontal Gaze Palsy with Progressive Scoliosis

Familial hyperaldosteronism type I

Familial hyperaldosteronism type III

Familial hypercholanemia

Familial hypercholesterolemia

Familial hyperinsulinemic hypoglycemia 1

Familial hyperinsulinemic hypoglycemia 2

Familial hyperinsulinemic hypoglycemia 6

Familial hyperinsulinism

Familial hyperkalemic periodic paralysis

Familial hyperreninemic hypoaldosteronism type 1

Familial hyperthyroidism due to mutations in TSH receptor

Familial hypertrophic cardiomyopathy 1

Familial hypertrophic cardiomyopathy 10

Familial hypertrophic cardiomyopathy 11

Familial hypertrophic cardiomyopathy 12

Familial hypertrophic cardiomyopathy 13

Familial hypertrophic cardiomyopathy 14

Familial hypertrophic cardiomyopathy 15

Familial hypertrophic cardiomyopathy 16

Familial hypertrophic cardiomyopathy 17

Familial hypertrophic cardiomyopathy 18

Familial hypertrophic cardiomyopathy 19

Familial hypertrophic cardiomyopathy 2

Familial hypertrophic cardiomyopathy 20

Familial hypertrophic cardiomyopathy 3

Familial hypertrophic cardiomyopathy 4

Familial hypertrophic cardiomyopathy 6

Familial hypertrophic cardiomyopathy 7

Familial hypertrophic cardiomyopathy 8

Familial hypertrophic cardiomyopathy 9

Familial hypoalphalipoproteinemia

Familial hypobetalipoproteinemia

Familial hypocalciuric hypercalcemia type 1

Familial hypocalciuric hypercalcemia type 2

Familial hypocalciuric hypercalcemia type 3

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Familial hypokalemia-hypomagnesemia

Familial hypoplastic, glomerulocystic kidney

Familial hypospadias

Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

Familial infantile bilateral striatal necrosis

Familial infantile myasthenia

Familial infantile myoclonic epilepsy

Familial Infantile Myofibromatosis

Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

Familial isolated congenital asplenia

Familial isolated dilated cardiomyopathy

Familial isolated hyperparathyroidism

Familial Isolated Hypoparathyroidism

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Familial isolated hypoparathyroidism due to impaired PTH secretion

Familial isolated pituitary adenoma

Familial isolated restrictive cardiomyopathy

Familial juvenile gout

Familial juvenile hyperuricemic nephropathy 1

Familial juvenile hyperuricemic nephropathy type 1

Familial lambdoid synostosis

Familial LCAT deficiency

Familial leiomyomatosis

Familial ligand-defective apolipoprotein B-100

Familial lipoprotein lipase deficiency

Familial male-limited precocious puberty

FAMILIAL MEDITERRANEAN FEVER

FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

Familial Mediterranean fever, autosomal recessive

Familial medullary thyroid carcinoma

Familial melanoma

Familial mesial temporal lobe epilepsy with febrile seizures

Familial multinodular goiter

Familial multiple endocrine neoplasia type I

Familial multiple meningioma

Familial multiple nevi flammei

Familial multiple polyposis syndrome

Familial multiple trichoepithelioma

Familial multiple trichoepitheliomata

Familial non-Hodgkin lymphoma

Familial ocular anterior segment mesenchymal dysgenesis

Familial or sporadic hemiplegic migraine

Familial osteochondritis dissecans

Familial pancreatic carcinoma

Familial papillary renal cell carcinoma

Familial parathyroid adenoma

Familial paroxysmal ataxia

Familial partial lipodystrophy associated with PLIN1 mutations

Familial partial lipodystrophy associated with PPARG mutations

Familial partial lipodystrophy due to AKT2 mutations

Familial partial lipodystrophy type 2 (FPLD2)

Familial partial lipodystrophy, Dunnigan type

Familial partial lipodystrophy, Kobberling type

Familial periodic paralysis

Familial platelet disorder with associated myeloid malignancy

Familial platelet syndrome with predisposition to acute myelogenous leukemia

Familial porencephaly

Familial porphyria cutanea tarda

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Familial primary hypomagnesemia with normocalcuria and normocalcemia

Familial primary localized cutaneous amyloidosis

Familial progressive cardiac conduction defect

Familial progressive hyper- and hypopigmentation

Familial progressive hyperpigmentation

Familial prostate cancer

Familial renal amyloidosis due to Apolipoprotein AI variant

Familial renal amyloidosis due to Apolipoprotein AII variant

Familial renal amyloidosis due to fibrinogen alpha-chain variant

Familial renal amyloidosis due to lysozyme variant

Familial renal cell carcinoma

Familial renal glucosuria

Familial renal hypouricemia

Familial restrictive cardiomyopathy 1

Familial restrictive cardiomyopathy 3

Familial retinal arterial macroaneurysm

Familial retinoblastoma

Familial rhabdoid tumor

Familial scaphocephaly syndrome (FSPC)

Familial scaphocephaly syndrome, McGillivray type

Familial Schizencephaly, EMX2-Related

Familial short QT syndrome

Familial sick sinus syndrome

Familial sinus histiocytosis with massive lymphadenopathy

Familial spinal neurofibromatosis

Familial spinal neurofibromatosis (FSNF)

Familial spontaneous pneumothorax

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial thoracic aortic aneurysm and aortic dissection

Familial thrombocytosis

Familial thrombomodulin anomalies

Familial thyroid dyshormonogenesis

Familial type 3 hyperlipoproteinemia

Familial type 5 hyperlipoproteinemia

Familial vascular leukoencephalopathy

Familial vesicoureteral reflux

Familial visceral amyloidosis, Ostertag type

Familial visceral myopathy

Familial X-linked hypophosphatemic vitamin D refractory rickets

FANCB-Related Fanconi Anemia

FANCI-Related Fanconi Anemia

FANCL-Related Fanconi Anemia

FANCM-Related Fanconi Anemia

Fanconi anemia

Fanconi anemia complementation group D type 1 (FANCD1)

Fanconi anemia complementation group D1

Fanconi anemia complementation group P

FANCONI ANEMIA, COMPLEMEMENTATION GROUP C

Fanconi anemia, complementation group 0

FANCONI ANEMIA, COMPLEMENTATION GROUP A

FANCONI ANEMIA, COMPLEMENTATION GROUP B

FANCONI ANEMIA, COMPLEMENTATION GROUP C

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D2

FANCONI ANEMIA, COMPLEMENTATION GROUP E

FANCONI ANEMIA, COMPLEMENTATION GROUP F

FANCONI ANEMIA, COMPLEMENTATION GROUP G

FANCONI ANEMIA, COMPLEMENTATION GROUP I

FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP L

FANCONI ANEMIA, COMPLEMENTATION GROUP M

FANCONI ANEMIA, COMPLEMENTATION GROUP N

FANCONI ANEMIA, COMPLEMENTATION GROUP O

FANCONI ANEMIA, COMPLEMENTATION GROUP P

Fanconi anemia, complementation group q

FANCONI RENOTUBULAR SYNDROME 2

FANCONI RENOTUBULAR SYNDROME 3

FANCONI-BICKEL SYNDROME

Farber lipogranulomatosis

Farbers lipogranulomatosis

Fasting Glucose

Fasting glucose-related traits

Fasting glucose-related traits (interaction with BMI)

Fasting insulin (interaction)

Fasting insulin-related traits

Fasting insulin-related traits (interaction with BMI)

Fasting plasma glucose

FASTING PLASMGLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1

FASTING PLASMGLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5

Fasting proinsulin

FASTKD2-related infantile mitochondrial encephalomyopathy

Fat body mass

Fat distribution (HIV)

Fatal encephalopathy, lactic acidosis, and severe mtDNdepletion in muscle

FATAL FAMILIAL INSOMNIA

Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile hypertonic myofibrillar myopathy

Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

Fatal Infantile Lactic Acidosis

Fatal infantile lactic acidosis with methylmalonic aciduria

Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3

Fatal multiple mitochondrial dysfunction syndrome type 1

Fatal multiple mitochondrial dysfunction syndrome type 2

Fatal post-viral neurodegenerative disorder

Fatty acid hydroxylase-associated neurodegeneration

FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF

FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1

FAZIO-LONDE DISEASE

Febrile seizures

FEBRILE SEIZURES, FAMILIAL, 11

FEBRILE SEIZURES, FAMILIAL, 3A

FEBRILE SEIZURES, FAMILIAL, 3A, SUSCEPTIBILITY TO

FEBRILE SEIZURES, FAMILIAL, 3B

FEBRILE SEIZURES, FAMILIAL, 4

FECHTNER SYNDROME

Fechtner syndrome (FTNS)

Feeding difficulties in infancy

FEINGOLD SYNDROME

FEINGOLD SYNDROME 1

Feingold syndrome type 1

Feingold syndrome type 2

Female restricted epilepsy with intellectual disability

Femoral neck bone geometry

Femoral neck bone geometry and menarche (age at onset)

Femoral_Neck_BMD

Ferro-cerebro-cutaneous syndrome

FERTILE EUNUCH SYNDROME

Fetal akinesia-cerebral and retinal hemorrhage syndrome

FETAL AKINESIDEFORMATION SEQUENCE

Fetal and neonatal alloimmune thrombocytopenia

Fetal brain disruption sequence

Fetal Gaucher disease

Fetal hemoglobin levels

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1

Fetal hemoglobin quantitative trait locus 2

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6

Fetal hydantoin syndrome

FG syndrome

FG SYNDROME 2

FG SYNDROME 4

FG syndrome type 1

FG syndrome type 2 (FGS2)

FG syndrome type 4 (FGS4)

FGFR2-related bent bone dysplasia

FH AFRIKANER 1

FH AFRIKANER 2

FH AFRIKANER 3

FH ALGERIA

FH BAHRAIN

FH BARI

FH DENVER 2

FH DRUZE

FH FRENCH CANADIAN 2

FH FRENCH CANADIAN 4

FH GENOA

FH GLASCO

FH KUWAIT

FH LEBANESE

FH LONDON 3

FH MEXICO

FH NAPLES

FH OSAK3

FH PISCATAWAY

FH PORI

FH PUERTO RICO

FH SAINT OMER

FH TURKEY

FH TURKU

FH ZAMBIA

Fibrinogen

FIBRINOGEN AARHUS 1

FIBRINOGEN AMIENS 1

FIBRINOGEN ASAHI

FIBRINOGEN BALTIMORE 1

FIBRINOGEN BALTIMORE 2

FIBRINOGEN BALTIMORE 3

FIBRINOGEN BALTIMORE 4

FIBRINOGEN BERGAMO 1

FIBRINOGEN BERGAMO 2

FIBRINOGEN CANTERBURY

FIBRINOGEN CARACAS-2

FIBRINOGEN CHRISTCHURCH 2

FIBRINOGEN DUSART

FIBRINOGEN GIESSEN 4

FIBRINOGEN HILLSBOROUGH

FIBRINOGEN ISE

FIBRINOGEN KEOKUK

FIBRINOGEN KYOTO 2

FIBRINOGEN KYOTO 3

FIBRINOGEN LILLE 1

FIBRINOGEN LONGMONT

FIBRINOGEN MARBURG

FIBRINOGEN MATSUMOTO 1

FIBRINOGEN MILANO 1

FIBRINOGEN MILANO XII, DIGENIC

FIBRINOGEN NAGOY1

FIBRINOGEN NAPLES

FIBRINOGEN NIJMEGEN

FIBRINOGEN OSAK5

FIBRINOGEN PONTOISE 2

FIBRINOGEN ROUEN 1

FIBRINOGEN, ALPHA POLYPEPTIDE

Fibrocalculous pancreatic diabetes, susceptibility to

Fibrochondrogenesis

FIBROCHONDROGENESIS 1

FIBROCHONDROGENESIS 2

FIBRODYSPLASIOSSIFICANS PROGRESSIVA

FIBROMATOSIS, GINGIVAL, 1

Fibronectin glomerulopathy

Fibrosarcoma

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement

Fibrosis of extraocular muscles, congenital, 3b

Fibrous dysplasia of jaw

Fibular aplasia - complex brachydactyly

FIBULAR APLASIOR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND

FIBULAR HYPOPLASIAND COMPLEX BRACHYDACTYLY

FIBULIN 1

Finnish congenital nephrotic syndrome

FISH-EYE DISEASE

Flat occiput

FLECK CORNEAL DYSTROPHY

FLECK RETINA, FAMILIAL BENIGN

FLNB-Related Disorders

FLOATING-HARBOR SYNDROME

Fluorouracil response

FMO3 ACTIVITY, DECREASED

FMTC and Unclassified

FNB1 POLYMORPHISM

FOCAL CORTICAL DYSPLASIOF TAYLOR

FOCAL CORTICAL DYSPLASIOF TAYLOR, TYPE IIB

FOCAL DERMAL HYPOPLASIA

Focal dermal hypoplasia (FODH)

Focal epilepsy

Focal epilepsy - intellectual disability - cerebro-cerebellar malformation

Focal epilepsy with speech disorder with or without mental retardation

FOCAL FACIAL DERMAL DYSPLASI3, SETLEIS TYPE

FOCAL FACIAL DERMAL DYSPLASI4

Focal facial dermal dysplasia type III

Focal facial dermal dysplasia type IV

Focal palmoplantar keratoderma with joint keratoses

Focal segmental glomerulosclerosis

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2

Focal segmental glomerulosclerosis 3

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO

Focal segmental glomerulosclerosis 4

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6

Focal segmental glomerulosclerosis and dilated cardiomyopathy

FOLATE MALABSORPTION, HEREDITARY

Folate pathway vitamin levels

Follicle Stimulating Hormone

FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED

Follicular lymphoma

Follicular thyroid carcinoma samples

Follicule stimulating hormone

Forced Expiratory Volume

Forced Vital Capacity

FOREBRAIN DEFECTS

Formal thought disorder in schizophrenia

Formiminoglutamic aciduria

FORMIMINOTRANSFERASE DEFICIENCY

FOVEAL HYPOPLASI1

FOVEAL HYPOPLASI1 WITH CATARACT

FOVEAL HYPOPLASI1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES

Foveal hypoplasia

Foveal hypoplasia (FOVHYP)

Foveal hypoplasia - presenile cataract

Foveal hypoplasia and presenile cataract syndrome

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FOVEAL HYPOPLASIAND CATARACT

FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION

Fowler syndrome

Fractional exhaled nitric oxide (childhood)

Fracture, hip, susceptibility to

FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE

FRAGILE X MENTAL RETARDATION SYNDROME

Fragile X syndrome

Fragile X syndrome (FRAX)

Fragile X tremor/ataxia syndrome (FXTAS)

FRAGILE X TREMOR/ATAXISYNDROME

Fragile X-associated tremor/ataxia syndrome

Fragile X-E mental retardation syndrome (FRAXE)

Frank Ter Haar syndrome

Frank-ter Haar syndrome

FRASER SYNDROME

Fraser syndrome (FRASS)

FRASIER SYNDROME

Frasier Syndrome Frasier syndrome Frasier syndrome

FRAXE intellectual disability

Freckles

Freckling

Free sialic acid storage disease, infantile form

Freeman-Sheldon syndrome

Fried syndrome

FRIEDREICH ATAXI1

FRIEDREICH ATAXIA

Friedreichs ataxia

Frontal bossing

Frontal Lobe

FRONTOMETAPHYSEAL DYSPLASIA

Frontometaphyseal dysplasia (FMD)

FRONTONASAL DYSPLASI1

FRONTONASAL DYSPLASI3

Frontonasal dysplasia

Frontonasal dysplasia 2

Frontonasal dysplasia type 1 (FND1)

Frontonasal dysplasia type 3 (FND3)

Frontonasal dysplasia with alopecia and genital anomaly

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Frontorhiny

FRONTOTEMPORAL DEMENTIA

Frontotemporal dementia with motor neuron disease

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED

Frontotemporal dementia, ubiquitin-positive

FRONTOTEMPORAL DEMENTIAND/OR AMYOTROPHIC LATERAL SCLEROSIS

FRONTOTEMPORAL DEMENTIWITH TDP43 INCLUSIONS, TARDBP-RELATED

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS

FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO

Fructose 1,6 Bisphosphatase Deficiency

FRUCTOSE INTOLERANCE

FRUCTOSE INTOLERANCE, HEREDITARY

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Fructose-biphosphatase deficiency

FRUCTOSURIA, ESSENTIAL

FTH1-related iron overload

FU1/FU2 POLYMORPHISM

Fuchs endothelial corneal dystrophy

Fuchs's corneal dystrophy

FUCOSIDOSIS

Fucosidosis (FUCA1D)

FUCOSYLTRANSFERASE 1

FUCOSYLTRANSFERASE 2

FUCOSYLTRANSFERASE 3

FUCOSYLTRANSFERASE 6 DEFICIENCY

FUHRMANN SYNDROME

Fuhrmann syndrome (FUHRS)

Fukuyama congenital muscular dystrophy

FUMARASE DEFICIENCY

Fumaric aciduria

FUMARYLACETOACETASE PSEUDODEFICIENCY

Functional impairment in major depressive disorder, bipolar disorder and schizophrenia

Functional MRI

FUNDUS ALBIPUNCTATUS

FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE

FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY

FUNDUS FLAVIMACULATUS

Top

G

G6PD A+

G6PD A-

G6PD ALHAMBRA

G6PD ANAHEIM

G6PD ANDALUS

G6PD ASAHI

G6PD AURES

G6PD AVEIRO

G6PD BEVERLY HILLS

G6PD CANTON

G6PD CHATHAM

G6PD COIMBRA

G6PD COSENZA

G6PD GAOHE

G6PD GASTONIA

G6PD GUADALAJARA

G6PD HARILAOU

G6PD IERAPETRA

G6PD ILESHA

G6PD IOWA

G6PD IOWCITY

G6PD JAMMU

G6PD JAPAN

G6PD KAIPING

G6PD KALYAN

G6PD KERALA

G6PD KERALA-KALYAN

G6PD LOMLINDA

G6PD MAHIDOL

G6PD MAHIDOL-LIKE

G6PD MALAGA

G6PD MARION

G6PD MEDITERRANEAN

G6PD METAPONTO

G6PD MEXICO CITY

G6PD MINNESOTA

G6PD MONTALBANO

G6PD NAMORU

G6PD NANKANG

G6PD NASHVILLE

G6PD NEAPOLIS

G6PD NILGIRI

G6PD ORISSA

G6PD PAWNEE

G6PD PORTICI

G6PD PUERTO LIMON

G6PD QUING YUAN

G6PD REHOVOT

G6pd rflp

G6PD RIVERSIDE

G6PD SANTAMARIA

G6PD SANTIAGO

G6PD SANTIAGO DE CUBA

G6PD SERRES

G6PD SPLIT

G6PD SPRINGFIELD

G6PD SUNDERLAND

G6PD TAIWAN-HAKK2

G6PD TOMAH

G6PD VIANGCHAN

G6PD WALTER REED

GABA-TRANSAMINASE DEFICIENCY

GALACTOKINASE DEFICIENCY

GALACTOSE EPIMERASE DEFICIENCY

GALACTOSE EPIMERASE DEFICIENCY, SEVERE

GALACTOSEMIA

Galactosemia (GALCT)

Galactosemia II

Galactosemia II (GALCT2)

GALACTOSIALIDOSIS

Galactosialidosis (GSL)

GALACTOSIALIDOSIS, EARLY INFANTILE

GALACTOSIALIDOSIS, LATE INFANTILE

Galactosylceramide beta-galactosidase deficiency

Gallbladder cancer

GALLBLADDER DISEASE 1

GALLBLADDER DISEASE 4

Gallbladder Diseases

Gallstones

GALT POLYMORPHISM

GALT POLYMORPHISM (DUARTE, D2)

GALT POLYMORPHISM (LOS ANGELES, D1)

Gambling

Gamma gluatamyl transferase levels

Gamma glutamyl transpeptidase

GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3

Gamma-aminobutyric acid transaminase deficiency

Gamma-glutamyl transpeptidase deficiency

Gamma-Glutamylcyclotransferase

Gamma-glutamylcysteine synthetase deficiency

GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIDUE

GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIDUE TO

Gamstorp-Wohlfart syndrome

Ganglioside sialidase deficiency

Gangliosidosis GM1 type 3

GAP JUNCTION PROTEIN, BETA-3

GAPO syndrome

GARDNER SYNDROME

Gastric adenocarcinoma sample

Gastric cancer

GASTRIC CANCER, HEREDITARY DIFFUSE

GASTRIC CANCER, SOMATIC

Gastric linitis plastica

Gastrointestinal stromal tumor

GASTROINTESTINAL STROMAL TUMOR, FAMILIAL

GASTROINTESTINAL STROMAL TUMOR, SOMATIC

Gastrointestinal Stromal Tumors

Gaucher disease

Gaucher disease (GD)

Gaucher disease - ophthalmoplegia - cardiovascular calcification

Gaucher disease 1

Gaucher disease perinatal lethal (GDPL)

Gaucher disease severity

Gaucher disease type 1

Gaucher disease type 1 (GD1)

Gaucher disease type 2

Gaucher disease type 2 (GD2)

Gaucher disease type 3

Gaucher disease type 3 (GD3)

Gaucher disease type 3C

Gaucher disease type 3C (GD3C)

GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

GAUCHER DISEASE, PERINATAL LETHAL

GAUCHER DISEASE, TYPE I

GAUCHER DISEASE, TYPE II

GAUCHER DISEASE, TYPE III

GAUCHER DISEASE, TYPE IIIC

Gauchers disease, type 1

GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS

GC1/GC2 POLYMORPHISM

GCS1-CDG syndrome

GELATINOUS DROP-LIKE CORNEAL DYSTROPHY

GELEOPHYSIC DYSPLASI1

GELEOPHYSIC DYSPLASI2

Geleophysic dysplasia

Generalized arterial calcification of infancy

Generalized arterial calcification of infancy 2

Generalized atrophic benign epidermolysis bullosa

Generalized congenital lipodystrophy with myopathy

Generalized dominant dystrophic epidermolysis bullosa

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Generalized epilepsy

Generalized epilepsy - paroxysmal dyskinesia

GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA

Generalized epilepsy with febrile seizures plus

Generalized epilepsy with febrile seizures plus 1

Generalized epilepsy with febrile seizures plus 2

Generalized epilepsy with febrile seizures plus 3

Generalized epilepsy with febrile seizures plus 7

Generalized epilepsy with febrile seizures plus type 5

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7

Generalized epilepsy with febrile seizures-plus context

Generalized galactose epimerase deficiency

Generalized junctional epidermolysis bullosa, non-Herlitz type

Generalized juvenile polyposis/juvenile polyposis coli

Generalized muscle weakness

Generalized peeling skin syndrome type B

Generalized pseudohypoaldosteronism type 1

Generalized pustular psoriasis

Generalized resistance to thyroid hormone

Generalized thyroid hormone resistance

Genetic hyperferritinemia without iron overload

Genetic prion diseases

Genetic recurrent myoglobinuria

Genetic transient congenital hypothyroidism

Genitopatellar syndrome

Germ cell tumor, nonseminomatous

Geroderma osteodysplastica

GERODERMOSTEODYSPLASTICUM

GERSTMANN-STRAUSSLER DISEASE

Gerstmann-Straussler-Scheinker syndrome

GHOSAL HEMATODIAPHYSEAL DYSPLASIA

Ghosal hematodiaphyseal syndrome

Giant axonal neuropathy

GIANT AXONAL NEUROPATHY 1

GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE

Giant cell arteritis

Giant cell glioblastoma

Giant pigmented hairy nevus

GIL BLOOD GROUP

GILBERT SYNDROME

Gilbert syndrome, susceptibility to

Gilberts syndrome

GILLES DE LTOURETTE SYNDROME

Gingival fibromatosis with hypertrichosis

GITELMAN SYNDROME

GLANZMANN THROMBASTHENIA

Glanzmanns thrombasthenia

GLASS SYNDROME

GLAUCOM1, OPEN ANGLE, A

GLAUCOM1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE

GLAUCOM1, OPEN ANGLE, A, DIGENIC

GLAUCOM1, OPEN ANGLE, E

GLAUCOM1, OPEN ANGLE, F

GLAUCOM1, OPEN ANGLE, G

GLAUCOM1, OPEN ANGLE, O

GLAUCOM1, OPEN ANGLE, P

GLAUCOM3, PRIMARY CONGENITAL, A

GLAUCOM3, PRIMARY CONGENITAL, D

Glaucoma

Glaucoma (exfoliation)

Glaucoma (primary open-angle)

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Glaucoma 3, primary congenital, a, digenic

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Glaucoma, congenital

GLAUCOMA, EARLY-ONSET, DIGENIC

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

GLAUCOMA, PRIMARY CONGENITAL, A

GLAUCOMA, PRIMARY OPEN ANGLE

GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET

GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET

GLDC-Related Glycine Encephalopathy

GLI2-Related Holoprosencephaly

Glioblastoma

Glioblastoma multiforme sample

Glioblastoma sample

GLIOBLASTOMA, SOMATIC

Glioma

Glioma (high-grade)

GLIOMSUSCEPTIBILITY 1

GLIOMSUSCEPTIBILITY 2

GLIOMSUSCEPTIBILITY 3

Gliosarcoma

Gliosis, familial progressive subcortical

Glipizide poor metabolizer

Global developmental delay

Globozoospermia

Glomerular filtration rate

GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIAND ISOSTHENURIA

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2

Glomerulosclerosis

Glomuvenous malformation

GLOMUVENOUS MALFORMATIONS

Glomuvenous malformations (GVMs)

GLUCOCORTICOID DEFICIENCY 1

GLUCOCORTICOID DEFICIENCY 2

GLUCOCORTICOID DEFICIENCY 4

Glucocorticoid deficiency with achalasia

GLUCOCORTICOID RECEPTOR

GLUCOCORTICOID RECEPTOR POLYMORPHISM

Glucocorticoid resistance

GLUCOCORTICOID RESISTANCE, CELLULAR

GLUCOCORTICOID RESISTANCE, FAMILIAL

GLUCOCORTICOID RESISTANCE, GENERALIZED

GLUCOCORTICOID THERAPY, RESPONSE TO

GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM

Glucose

Glucose transporter type 1 deficiency syndrome

Glucose-6-phosphate transport defect

Glucose-galactose malabsorption

GLUCOSE/GALACTOSE MALABSORPTION

GLUT1 DEFICIENCY SYNDROME 1

Glut1 deficiency syndrome 1, autosomal recessive

GLUT1 DEFICIENCY SYNDROME 2

GLUT1 deficiency syndrome type 1 (GLUT1DS1)

GLUT1 deficiency syndrome type 2 (GLUT1DS2)

GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY

Glutamate formiminotransferase deficiency (FIGLU-URIA)

GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM

GLUTAMINE DEFICIENCY, CONGENITAL

Glutaric acidemia type 3

GLUTARIC ACIDEMII

GLUTARIC ACIDEMIIIA

GLUTARIC ACIDEMIIIB

GLUTARIC ACIDEMIIIC

GLUTARIC ACIDEMIIIC, LATE-ONSET

Glutaric aciduria 1

Glutaric aciduria 2B

Glutaric aciduria 3

Glutaric aciduria type 2A

Glutaric aciduria type 2B

Glutaric aciduria type 2C

Glutaric aciduria, type 1

GLUTARIC ACIDURIIII

Glutaricacidemia Type 1

Glutaryl-Codehydrogenase deficiency

Glutaryl-Cooxidase deficiency

GLUTATHIONE PEROXIDASE POLYMORPHISM

GLUTATHIONE REDUCTASE

GLUTATHIONE SYNTHETASE DEFICIENCY

GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA

GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIDUE TO

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

GLUTATHIONURIA

Gluthathione synthetase deficiency

Glycated hemoglobin levels

Glycemic traits

Glycemic traits (pregnancy)

Glycerol Kinase Deficiency

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, infantile form

Glycerol kinase deficiency, juvenile form

GLYCEROL QUANTITATIVE TRAIT LOCUS

Glycerol release during exercise, defective

GLYCINE ENCEPHALOPATHY

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Glycogen content in skeletal muscle, increased

GLYCOGEN STORAGE DISEASE 0, LIVER

GLYCOGEN STORAGE DISEASE 0, MUSCLE

Glycogen storage disease 12

Glycogen storage disease 13

Glycogen storage disease 1A

Glycogen storage disease 1B

Glycogen storage disease 1C

Glycogen storage disease 2

Glycogen storage disease 5

Glycogen storage disease 7

Glycogen storage disease due to acid maltase deficiency, adult onset

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, juvenile onset

Glycogen storage disease due to aldolase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type a

Glycogen storage disease due to glucose-6-phosphatase deficiency type b

Glycogen storage disease due to GLUT2 deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to glycogenin deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to phosphoglucomutase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

GLYCOGEN STORAGE DISEASE Ia

GLYCOGEN STORAGE DISEASE Ib

GLYCOGEN STORAGE DISEASE Ic

GLYCOGEN STORAGE DISEASE II

GLYCOGEN STORAGE DISEASE II, ADULT FORM

GLYCOGEN STORAGE DISEASE II, INFANTILE FORM

GLYCOGEN STORAGE DISEASE III

Glycogen storage disease IIIa

Glycogen storage disease IIIb

Glycogen storage disease IIIc

GLYCOGEN STORAGE DISEASE IV

GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR

GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC

GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR

GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR

GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC

GLYCOGEN STORAGE DISEASE IXa1

Glycogen storage disease IXa2

GLYCOGEN STORAGE DISEASE IXb

GLYCOGEN STORAGE DISEASE IXc

Glycogen storage disease IXd

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

Glycogen storage disease type 13

Glycogen storage disease type 1A

Glycogen Storage Disease Type II (Pompe Disease)

Glycogen Storage Disease Type III

Glycogen storage disease type IXa1

Glycogen Storage Disease Type VI

Glycogen storage disease type X

GLYCOGEN STORAGE DISEASE V

GLYCOGEN STORAGE DISEASE VI

GLYCOGEN STORAGE DISEASE VII

GLYCOGEN STORAGE DISEASE X

GLYCOGEN STORAGE DISEASE XI

GLYCOGEN STORAGE DISEASE XII

GLYCOGEN STORAGE DISEASE XIII

GLYCOGEN STORAGE DISEASE XIV

GLYCOGEN STORAGE DISEASE XV

Glycogen storage disease, type II

GLYCOGEN STORAGE DISEASE, TYPE IIIa

GLYCOGEN STORAGE DISEASE, TYPE IIIb

Glycogen storage disease, type IV

GLYCOGEN STORAGE DISEASE, TYPE IXd

Glycogen storage disease, type V

Glycogen storage disease, type VI

Glycogen storage disease, type VII

GLYCOPHORIN D, DUCH VARIANT

GLYCOPHORIN D, WEBB VARIANT

Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

GM1-gangliosidosis 1

GM1-gangliosidosis type 1 (GM1G1)

GM1-gangliosidosis type 2 (GM1G2)

GM1-gangliosidosis type 3 (GM1G3)

GM1-GANGLIOSIDOSIS, TYPE I

GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT

GM1-GANGLIOSIDOSIS, TYPE II

GM1-GANGLIOSIDOSIS, TYPE III

GM2-gangliosidosis 1

GM2-gangliosidosis 2

GM2-gangliosidosis type 1 (GM2G1)

GM2-gangliosidosis type 2 (GM2G2)

GM2-gangliosidosis type AB (GM2GAB)

GM2-GANGLIOSIDOSIS, AB VARIANT

GM2-GANGLIOSIDOSIS, ADULT

GM2-GANGLIOSIDOSIS, ADULT-ONSET

GM2-GANGLIOSIDOSIS, B1 VARIANT

GM2-GANGLIOSIDOSIS, CHRONIC

GM2-GANGLIOSIDOSIS, JUVENILE

GM2-GANGLIOSIDOSIS, LATE ONSET

GM2-GANGLIOSIDOSIS, SUBACUTE

GMP REDUCTASE POLYMORPHISM

GNAS hyperfunction

GNAS hyperfunction (GNASHYP)

GNATHODIAPHYSEAL DYSPLASIA

Gnathodiaphyseal dysplasia (GDD)

Goiter, multinodular 1, with or without sertoli-leydig cell tumors

GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS;

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Goldberg-Shprintzen megacolon syndrome (GOSHS)

GOLDBERG-SHPRINTZEN SYNDROME

Goldenhar syndrome

Goldmann-Favre syndrome

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Gonadotropin-independent familial sexual precocity

GORDON HOLMES SYNDROME

Gordon syndrome

Gorlin syndrome

Gout

Gout HPRT-related (GOUT-HPRT)

GRACILE BONE DYSPLASIA

GRACILE SYNDROME

GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO

Graham Little-Piccardi-Lassueur syndrome

Granular corneal dystrophy type I

Granular corneal dystrophy type II

Granulomatosis with polyangiitis

Granulomatous disease

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive

Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT

Granulosa cell tumor of the ovary

Grasbeck-Imerslund disease

GRAVES DISEASE, SUSCEPTIBILITY TO, 4

Graves' disease

Gray matter volume (schizophrenia interaction)

GRAY PLATELET SYNDROME

Grebe syndrome

Greek hpfh

Greenberg dysplasia

Greig cephalo-poly-syndactyly syndrome

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE

Griscelli disease type 1

Griscelli disease type 2

Griscelli disease type 3

Griscelli syndrome 2

Griscelli syndrome type 2

Griscelli syndrome type 3

Griscelli syndrome type 3 (GS3)

GRISCELLI SYNDROME, TYPE 1

GRISCELLI SYNDROME, TYPE 2

GRISCELLI SYNDROME, TYPE 3

Groenouw corneal dystrophy type I

GROUP-SPECIFIC COMPONENT

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Growth deficiency and mental retardation with facial dysmorphism

Growth delay

Growth delay due to insulin-like growth factor I resistance

Growth delay due to insulin-like growth factor type 1 deficiency

GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES

Growth hormone deficiency, isolated, 1B

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY

GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH

Growth retardation-mild developmental delay-chronic hepatitis syndrome

GTP cyclohydrolase 1 deficiency

GTP cyclohydrolase 1 deficiency (GCH1D)

GTP cyclohydrolase I deficiency

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Guanidinoacetate methyltransferase deficiency (GAMT deficiency)

GUILLAIN-BARRE SYNDROME, FAMILIAL

Guttmacher syndrome

GYRATE ATROPHY OF CHOROID AND RETINA

GYRATE ATROPHY OF CHOROID AND RETINWITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA

Top

H

H syndrome

Haddad syndrome

HAIM-MUNK SYNDROME

Hair color

Hair morphology

HAIR MORPHOLOGY 1

HAIR MORPHOLOGY 1, HAIR THICKNESS

Hairy cell leukemia

Hairy cell leukemia variant

HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL

Hajdu-Cheney syndrome

HALLERMANN-STREIFF SYNDROME

Hallermann-Streiff syndrome (HSS)

HAMAMY SYNDROME

Hamel cerebro-palato-cardiac syndrome

Hand foot uterus syndrome

Hand Strength

HAND-FOOT-GENITAL SYNDROME

Handedness

Handedness in dyslexia

Haptoglobin levels

HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM

Harderoporphyria

HARLEQUIN ICHTHYOSIS

HARP SYNDROME

Hartnup disease

HARTNUP DISORDER

HARTSFIELD SYNDROME

Hartsfield-Bixler-Demyer syndrome

HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO

Hashimoto-Pritzker syndrome

HAWKINSINURIA

Hawkinsinuria (HAWK)

Hay-Wells syndrome of ectodermal dysplasia

HB AUBENAS

Hb Bart's Hydrops Fetalis

Hb camperdown

Hb D-Los Angeles

HB GAMBARA

HB NIIGATA

Hb SS disease

HbA2 levels

HBG1 POLYMORPHISM

HDL cholesterol

HDL Cholesterol - Triglycerides (HDLC-TG)

Head circumference (infant)

Hearing impairment

Hearing loss

Heart block, nonprogressive

Heart Diseases

Heart failure

Heart Rate

Heart rate variability traits

Heart-hand syndrome Slovenian type (HHS-Slovenian)

HEART-HAND SYNDROME, SLOVENIAN TYPE

Hecht syndrome

Height

Heinz body anemia

HEINZ BODY ANEMIAS

Heinz body hemolytic anemia

HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO

Helicobacter pylori serologic status

Helicoid peripapillary chorioretinal degeneration

HEMANGIOBLASTOMA, SPORADIC CEREBELLAR

HEMANGIOMA, CAPILLARY INFANTILE

HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC

HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO

Hematocrit

Hematological and biochemical traits

Hematological parameters

Hematology traits

HEMATURIA, BENIGN FAMILIAL

HEME OXYGENASE 1 DEFICIENCY

Hemifacial hyperplasia

Hemihypertrophy

Hemimegalencephaly

Hemimegalencephaly AKT3

Hemimegalencephaly MTOR

Hemimegalencephaly PIK3CA

Hemimegalencephaly PIK3R2

Hemochromatosis 1

Hemochromatosis 2A

Hemochromatosis 2B

Hemochromatosis type 2

Hemochromatosis type 2A

Hemochromatosis type 2B

Hemochromatosis type 3

Hemochromatosis type 4

Hemochromatosis, juvenile, digenic

HEMOCHROMATOSIS, TYPE 1

HEMOCHROMATOSIS, TYPE 1, MODIFIER OF

HEMOCHROMATOSIS, TYPE 2A

HEMOCHROMATOSIS, TYPE 2A, MODIFIER OF

HEMOCHROMATOSIS, TYPE 2B

HEMOCHROMATOSIS, TYPE 3

HEMOCHROMATOSIS, TYPE 4

Hemochromatosis, type 5

Hemoglobin

HEMOGLOBIN 'T LANGE LAND

HEMOGLOBIN A(2) ADRIA

HEMOGLOBIN A(2) AGRINIO

HEMOGLOBIN A(2) BABINGA

HEMOGLOBIN A(2) CAMPANIA

HEMOGLOBIN A(2) CANADA

HEMOGLOBIN A(2) CAPRI

HEMOGLOBIN A(2) COBURG

HEMOGLOBIN A(2) CORFU

HEMOGLOBIN A(2) FITZROY

HEMOGLOBIN A(2) FLATBUSH

HEMOGLOBIN A(2) GROVETOWN

HEMOGLOBIN A(2) HONAI

HEMOGLOBIN A(2) INDONESIA

HEMOGLOBIN A(2) LUCANIA

HEMOGLOBIN A(2) MANZANARES

HEMOGLOBIN A(2) MELBOURNE

HEMOGLOBIN A(2) METAPONTO

HEMOGLOBIN A(2) MONREALE

HEMOGLOBIN A(2) NIIGATA

HEMOGLOBIN A(2) NINIVE

HEMOGLOBIN A(2) NYU

HEMOGLOBIN A(2) PARKVILLE

HEMOGLOBIN A(2) PELENDRI

HEMOGLOBIN A(2) PUGLIA

HEMOGLOBIN A(2) ROOSEVELT

HEMOGLOBIN A(2) SANT ANTIOCO

HEMOGLOBIN A(2) SANT' ANTIOCO

HEMOGLOBIN A(2) SPHAKIA

HEMOGLOBIN A(2) TROODOS

HEMOGLOBIN A(2) VICTORIA

HEMOGLOBIN A(2) WRENS

HEMOGLOBIN A(2) YIALOUSA

HEMOGLOBIN A(2) YOKOSHIMA

HEMOGLOBIN A(2) ZAGREB

HEMOGLOBIN A(2)-PRIME

Hemoglobin A, Glycosylated

Hemoglobin A1(C) levels

HEMOGLOBIN AALBORG

HEMOGLOBIN ABRAHAM LINCOLN

HEMOGLOBIN ABRUZZO

HEMOGLOBIN ADANA

HEMOGLOBIN AGENOGI

HEMOGLOBIN AGHISOPHIA

HEMOGLOBIN AGRINIO

HEMOGLOBIN AICHI

HEMOGLOBIN AIDA

HEMOGLOBIN AL-AIN ABU DHABI

HEMOGLOBIN AL-HAMMADI RIYADH

HEMOGLOBIN ALABAMA

HEMOGLOBIN ALAMO

HEMOGLOBIN ALBANY-GEORGIA

HEMOGLOBIN ALBANY-SUMA

HEMOGLOBIN ALBERTA

HEMOGLOBIN ALESHA

HEMOGLOBIN ALTDORF

HEMOGLOBIN ANAMOSA

HEMOGLOBIN ANANTHARAJ

HEMOGLOBIN ANDREW-MINNEAPOLIS

HEMOGLOBIN ANKARA

HEMOGLOBIN ANN ARBOR

HEMOGLOBIN ANTALYA

HEMOGLOBIN ANTANANARIVO

HEMOGLOBIN ARLINGTON PARK

HEMOGLOBIN ARTA

HEMOGLOBIN ARYA

HEMOGLOBIN ASABARA

HEMOGLOBIN ATAGO

HEMOGLOBIN ATHENS-GEORGIA

HEMOGLOBIN ATLANTA

HEMOGLOBIN ATLANTA-COVENTRY

HEMOGLOBIN ATTLEBORO

HEMOGLOBIN AUBAGNE

HEMOGLOBIN AUCKLAND

HEMOGLOBIN AURORA

HEMOGLOBIN AUSTIN

HEMOGLOBIN AVICENNA

HEMOGLOBIN AZTEC

HEMOGLOBIN B(2)

HEMOGLOBIN BAB-SAADOUN

HEMOGLOBIN BADEN

HEMOGLOBIN BARBIZON

HEMOGLOBIN BARCELONA

HEMOGLOBIN BARI

HEMOGLOBIN BAYLOR

HEMOGLOBIN BECKMAN

HEMOGLOBIN BEIJING

HEMOGLOBIN BEILINSON

HEMOGLOBIN BEIRUT

HEMOGLOBIN BELFAST

HEMOGLOBIN BELLIARD

HEMOGLOBIN BEOGRAD

HEMOGLOBIN BETH ISRAEL

HEMOGLOBIN BETHESDA

HEMOGLOBIN BEZIERS

HEMOGLOBIN BIBBA

HEMOGLOBIN BICETRE

HEMOGLOBIN BIRMINGHAM

HEMOGLOBIN BIRMINGHAM (USA)

HEMOGLOBIN BOGHE

HEMOGLOBIN BOIS GUILLAUME

HEMOGLOBIN BOLOGNA

HEMOGLOBIN BOLOGNA-ST. ORSOLA

HEMOGLOBIN BORAS

HEMOGLOBIN BOUGARDIREY-MALI

HEMOGLOBIN BOURMEDES

HEMOGLOBIN BOYLE HEIGHTS

HEMOGLOBIN BREM-SUR-MER

HEMOGLOBIN BRESCIA

HEMOGLOBIN BREST

HEMOGLOBIN BRIE COMTE ROBERT

HEMOGLOBIN BRIGHAM

HEMOGLOBIN BRISBANE

HEMOGLOBIN BRISTOL

HEMOGLOBIN BRITISH COLUMBIA

HEMOGLOBIN BROCKTON

HEMOGLOBIN BROUSSAIS

HEMOGLOBIN BRUXELLES

HEMOGLOBIN BRYN MAWR

HEMOGLOBIN BUENOS AIRES

HEMOGLOBIN BUFFALO

HEMOGLOBIN BUGINESE-X

HEMOGLOBIN BUNBURY

HEMOGLOBIN BURKE

HEMOGLOBIN BURTON-UPON-TRENT

HEMOGLOBIN BUSHEY

HEMOGLOBIN BUSHWICK

HEMOGLOBIN BUZEN

HEMOGLOBIN C

HEMOGLOBIN C (GEORGETOWN)

HEMOGLOBIN C (ZIGUINCHOR)

Hemoglobin C - beta-thalassemia

Hemoglobin C disease

HEMOGLOBIN CAEN

HEMOGLOBIN CAGLIARI

HEMOGLOBIN CALAIS

HEMOGLOBIN CAMPERDOWN

HEMOGLOBIN CAMPINAS

HEMOGLOBIN CANTERBURY

HEMOGLOBIN CAPA

HEMOGLOBIN CARDARELLI

HEMOGLOBIN CARIBBEAN

HEMOGLOBIN CASABLANCA

HEMOGLOBIN CASPER

HEMOGLOBIN CASTILLA

HEMOGLOBIN CATONSVILLE

HEMOGLOBIN CEMENELUM

HEMOGLOBIN CHAD

HEMOGLOBIN CHANDIGARH

HEMOGLOBIN CHAPEL HILL

HEMOGLOBIN CHAROLLES

HEMOGLOBIN CHARTRES

HEMOGLOBIN CHAYA

HEMOGLOBIN CHEMILLY

HEMOGLOBIN CHESAPEAKE

HEMOGLOBIN CHESTERFIELD

HEMOGLOBIN CHEVERLY

HEMOGLOBIN CHIAPAS

HEMOGLOBIN CHIBA

HEMOGLOBIN CHICAGO

HEMOGLOBIN CHICO

HEMOGLOBIN CHILE

HEMOGLOBIN CHONGQING

HEMOGLOBIN CHORI

HEMOGLOBIN CHRISTCHURCH

HEMOGLOBIN CITY OF HOPE

HEMOGLOBIN CLEVELAND

HEMOGLOBIN CLINICO-MADRID

HEMOGLOBIN COCHIN-PORT ROYAL

HEMOGLOBIN COCODY

HEMOGLOBIN COIMBRA

HEMOGLOBIN COLIMA

HEMOGLOBIN COLLINGWOOD

HEMOGLOBIN COLUMBIMISSOURI

HEMOGLOBIN COMPLUTENSE

HEMOGLOBIN CONAKRY

HEMOGLOBIN CONNECTICUT

HEMOGLOBIN CONSTANT SPRING

HEMOGLOBIN CONTALDO

HEMOGLOBIN CORDELE

HEMOGLOBIN COSTRICA

HEMOGLOBIN COVENTRY

HEMOGLOBIN COWTOWN

HEMOGLOBIN CRANSTON

HEMOGLOBIN CRETE

HEMOGLOBIN CRETEIL

HEMOGLOBIN D (AGRI)

HEMOGLOBIN D (BALTIMORE)

HEMOGLOBIN D (BUSHMAN)

HEMOGLOBIN D (CAMPERDOWN)

HEMOGLOBIN D (GRANADA)

HEMOGLOBIN D (IBADAN)

HEMOGLOBIN D (IRAN)

HEMOGLOBIN D (NEATH)

HEMOGLOBIN D (OULED RABAH)

HEMOGLOBIN D (PUNJAB)

HEMOGLOBIN D (ST. LOUIS)

HEMOGLOBIN D (WASHINGTON)

Hemoglobin D disease

HEMOGLOBIN DAGESTAN

HEMOGLOBIN DALLAS

HEMOGLOBIN DANESHGAH-TEHRAN

HEMOGLOBIN DARTMOUTH

HEMOGLOBIN DAVENPORT

HEMOGLOBIN DEACONESS

HEMOGLOBIN DEBROUSSE

HEMOGLOBIN DECINES-CHARPIEU

HEMOGLOBIN DEER LODGE

HEMOGLOBIN DELFZICHT

HEMOGLOBIN DENMARK HILL

HEMOGLOBIN DENVER

HEMOGLOBIN DETROIT

HEMOGLOBIN DHOFAR

HEMOGLOBIN DHONBURI

HEMOGLOBIN DIE

HEMOGLOBIN DIEPPE

HEMOGLOBIN DJELFA

HEMOGLOBIN DOHA

HEMOGLOBIN DOUALA

HEMOGLOBIN DRENTHE

HEMOGLOBIN DUAN

HEMOGLOBIN DUARTE

HEMOGLOBIN DUINO

HEMOGLOBIN DUNN

HEMOGLOBIN DURHAM-N.C.

HEMOGLOBIN E

HEMOGLOBIN E (SASKATOON)

Hemoglobin E - beta-thalassemia

Hemoglobin E disease

HEMOGLOBIN EGYPT

HEMOGLOBIN ERNZ

HEMOGLOBIN ETHIOPIA

HEMOGLOBIN ETOBICOKE

HEMOGLOBIN EVANS

HEMOGLOBIN EVANSTON

HEMOGLOBIN EXTREMADURA

HEMOGLOBIN F (ALBAICIN)

HEMOGLOBIN F (AUCKLAND)

HEMOGLOBIN F (AUSTELL)

HEMOGLOBIN F (BASKENT)

HEMOGLOBIN F (BEECH ISLAND)

HEMOGLOBIN F (BONAIRE)

HEMOGLOBIN F (BROOKLYN)

HEMOGLOBIN F (CALABRIA)

HEMOGLOBIN F (CALLUNA)

HEMOGLOBIN F (CALTECH)

HEMOGLOBIN F (CARLTON)

HEMOGLOBIN F (CATALONIA)

HEMOGLOBIN F (CHARLOTTE)

HEMOGLOBIN F (CLAMART)

HEMOGLOBIN F (CLARKE)

HEMOGLOBIN F (COBB)

HEMOGLOBIN F (COLUMBUS-GA)

HEMOGLOBIN F (COSENZA)

HEMOGLOBIN F (DAMMAM)

HEMOGLOBIN F (DICKINSON)

HEMOGLOBIN F (EMIRATES)

HEMOGLOBIN F (FOREST PARK)

HEMOGLOBIN F (FUCHU)

HEMOGLOBIN F (FUKUYAMA)

HEMOGLOBIN F (GRANADA)

HEMOGLOBIN F (HEATHER)

HEMOGLOBIN F (HULL)

HEMOGLOBIN F (IWATA)

HEMOGLOBIN F (IZUMI)

HEMOGLOBIN F (JAMAICA)

HEMOGLOBIN F (JIANGSU)

HEMOGLOBIN F (KENNESTONE)

HEMOGLOBIN F (KINGSTON)

HEMOGLOBIN F (KOELLIKER)

HEMOGLOBIN F (KOTOBUKI)

HEMOGLOBIN F (KUALLUMPUR)

HEMOGLOBIN F (LESVOS)

HEMOGLOBIN F (LGRANGE)

HEMOGLOBIN F (LODZ)

HEMOGLOBIN F (MACEDONIA-I)

HEMOGLOBIN F (MACEDONIII)

HEMOGLOBIN F (MALAYSIA)

HEMOGLOBIN F (MALTA)

HEMOGLOBIN F (MARIETTA)

HEMOGLOBIN F (MEINOHAMA)

HEMOGLOBIN F (MELBOURNE)

HEMOGLOBIN F (MINOO)

HEMOGLOBIN F (OAKLAND)

HEMOGLOBIN F (ONODA)

HEMOGLOBIN F (OULED RABAH)

HEMOGLOBIN F (PENDERGRASS)

HEMOGLOBIN F (POOLE)

HEMOGLOBIN F (PORDENONE)

HEMOGLOBIN F (PORT ROYAL)

HEMOGLOBIN F (PORTO TORRES)

HEMOGLOBIN F (SACROMONTE)

HEMOGLOBIN F (SARDINIA)

HEMOGLOBIN F (SHANGHAI)

HEMOGLOBIN F (SIENA)

HEMOGLOBIN F (TEXAS I)

HEMOGLOBIN F (TOKYO)

HEMOGLOBIN F (URUMQI)

HEMOGLOBIN F (VELETA)

HEMOGLOBIN F (VICTORIJUBILEE)

HEMOGLOBIN F (WAYNESBORO)

HEMOGLOBIN F (WOODSTOCK)

HEMOGLOBIN F (XIN-SU)

HEMOGLOBIN F (XINJIANG)

HEMOGLOBIN F (YAMAGUCHI)

HEMOGLOBIN FANNIN-LUBBOCK

HEMOGLOBIN FERNDOWN

HEMOGLOBIN FLATBUSH (GEORGIA)

HEMOGLOBIN FONTAINEBLEAU

HEMOGLOBIN FORT DE FRANCE

HEMOGLOBIN FORT WORTH

HEMOGLOBIN FREIBURG

HEMOGLOBIN FUCHU-I

HEMOGLOBIN FUCHU-II

HEMOGLOBIN FUKUI

HEMOGLOBIN FUKUOKA

HEMOGLOBIN FUKUTOMI

HEMOGLOBIN FUKUYAMA

HEMOGLOBIN G (ACCRA)

HEMOGLOBIN G (AUDHALI)

HEMOGLOBIN G (AZAKUOLI)

HEMOGLOBIN G (BRISTOL)

HEMOGLOBIN G (CHINESE)

HEMOGLOBIN G (COPENHAGEN)

HEMOGLOBIN G (COUSHATTA)

HEMOGLOBIN G (FERRARA)

HEMOGLOBIN G (FORT WORTH)

HEMOGLOBIN G (GALVESTON)

HEMOGLOBIN G (GEORGIA)

HEMOGLOBIN G (HONAN)

HEMOGLOBIN G (HONG KONG)

HEMOGLOBIN G (HONOLULU)

HEMOGLOBIN G (HSI-TSOU)

HEMOGLOBIN G (HSIN-CHU)

HEMOGLOBIN G (KNOXVILLE)

HEMOGLOBIN G (MAKASSAR)

HEMOGLOBIN G (NORFOLK)

HEMOGLOBIN G (PEST)

HEMOGLOBIN G (PHILADELPHIA)

HEMOGLOBIN G (PORT ARTHUR)

HEMOGLOBIN G (SAN JOSE)

HEMOGLOBIN G (SASKATOON)

HEMOGLOBIN G (SINGAPORE)

HEMOGLOBIN G (SZUHU)

HEMOGLOBIN G (TAEGU)

HEMOGLOBIN G (TAICHUNG)

HEMOGLOBIN G (TAIPEI)

HEMOGLOBIN G (TAIWAN-AMI)

HEMOGLOBIN G (TEXAS)

HEMOGLOBIN G (WAIMANALO)

HEMOGLOBIN GAINESVILLE-GA

HEMOGLOBIN GALICIA

HEMOGLOBIN GARDEN STATE

HEMOGLOBIN GAVELLO

HEMOGLOBIN GEELONG

HEMOGLOBIN GELDROP ST. ANNA

HEMOGLOBIN GENEVA

HEMOGLOBIN GENOVA

HEMOGLOBIN GERLAND

HEMOGLOBIN GIFU

HEMOGLOBIN GODAVARI

HEMOGLOBIN GOTHENBURG

HEMOGLOBIN GOUDA

HEMOGLOBIN GRANGE-BLANCHE

HEMOGLOBIN GRAZ

HEMOGLOBIN GREAT LAKES

HEMOGLOBIN GRENOBLE

HEMOGLOBIN GUANGZHOU

HEMOGLOBIN GUIZHOU

HEMOGLOBIN GUN HILL

HEMOGLOBIN H DISEASE

HEMOGLOBIN H DISEASE, NONDELETIONAL

HEMOGLOBIN HACETTEPE

HEMOGLOBIN HAFNIA

HEMOGLOBIN HAMADAN

HEMOGLOBIN HAMILTON

HEMOGLOBIN HAMMERSMITH

HEMOGLOBIN HANAMAKI

HEMOGLOBIN HANDA

HEMOGLOBIN HANDSWORTH

HEMOGLOBIN HANGZHOU

HEMOGLOBIN HARBIN

HEMOGLOBIN HARROW

HEMOGLOBIN HASHARON

HEMOGLOBIN HAZEBROUCK

HEMOGLOBIN HEATHROW

HEMOGLOBIN HEKINAN

HEMOGLOBIN HELSINKI

HEMOGLOBIN HENRI MONDOR

HEMOGLOBIN HIGASHITOCHIGI

HEMOGLOBIN HIJIYAMA

HEMOGLOBIN HIKARI

HEMOGLOBIN HIKOSHIMA

HEMOGLOBIN HIMEJI

HEMOGLOBIN HINSDALE

HEMOGLOBIN HINWIL

HEMOGLOBIN HIROSAKI

HEMOGLOBIN HIROSE

HEMOGLOBIN HIROSHIMA

HEMOGLOBIN HK

HEMOGLOBIN HOBART

HEMOGLOBIN HOFU

HEMOGLOBIN HOKUSETSU

HEMOGLOBIN HOPE

HEMOGLOBIN HOPKINS 1

HEMOGLOBIN HOPKINS 2

HEMOGLOBIN HOSHIDA

HEMOGLOBIN HOTEL-DIEU

HEMOGLOBIN HOUSTON

HEMOGLOBIN HOWICK

HEMOGLOBIN HRADEC KRALOVE

HEMOGLOBIN HT

HEMOGLOBIN HYOGO

HEMOGLOBIN I

HEMOGLOBIN I (BURLINGTON)

HEMOGLOBIN I (HIGH WYCOMBE)

HEMOGLOBIN I (INTERLAKEN)

HEMOGLOBIN I (PHILADELPHIA)

HEMOGLOBIN I (SKAMANIA)

HEMOGLOBIN I (TEXAS)

HEMOGLOBIN I (TOULOUSE)

HEMOGLOBIN ICARIA

HEMOGLOBIN ILMENAU

HEMOGLOBIN INDIANAPOLIS

HEMOGLOBIN INKSTER

HEMOGLOBIN IOWA

HEMOGLOBIN IRAQ-HALABJA

HEMOGLOBIN ISEHARA

HEMOGLOBIN ISTANBUL

HEMOGLOBIN IWATA

HEMOGLOBIN J

HEMOGLOBIN J (ABIDJAN)

HEMOGLOBIN J (ALJEZUR)

HEMOGLOBIN J (ALTGELD GARDENS)

HEMOGLOBIN J (AMIENS)

HEMOGLOBIN J (ANATOLIA)

HEMOGLOBIN J (ANTAKYA)

HEMOGLOBIN J (AUCKLAND)

HEMOGLOBIN J (BALTIMORE)

HEMOGLOBIN J (BANGKOK)

HEMOGLOBIN J (BARI)

HEMOGLOBIN J (BIRMINGHAM)

HEMOGLOBIN J (BISKRA)

HEMOGLOBIN J (BROUSSAIS)

HEMOGLOBIN J (BUDA)

HEMOGLOBIN J (CAIRO)

HEMOGLOBIN J (CALABRIA)

HEMOGLOBIN J (CAMAGUEY)

HEMOGLOBIN J (CAMBRIDGE)

HEMOGLOBIN J (CAPE TOWN)

HEMOGLOBIN J (CHICAGO)

HEMOGLOBIN J (CORDOBA)

HEMOGLOBIN J (COSENZA)

HEMOGLOBIN J (CUBUJUQUI)

HEMOGLOBIN J (DALOA)

HEMOGLOBIN J (EUROPA)

HEMOGLOBIN J (GUANTANAMO)

HEMOGLOBIN J (HABANA)

HEMOGLOBIN J (HONOLULU)

HEMOGLOBIN J (IRAN)

HEMOGLOBIN J (KAOHSIUNG)

HEMOGLOBIN J (KORAT)

HEMOGLOBIN J (LENS)

HEMOGLOBIN J (LOME)

HEMOGLOBIN J (LUHE)

HEMOGLOBIN J (MANADO)

HEMOGLOBIN J (MEDELLIN)

HEMOGLOBIN J (MEERUT)

HEMOGLOBIN J (MEINUNG)

HEMOGLOBIN J (MEXICO)

HEMOGLOBIN J (NORFOLK)

HEMOGLOBIN J (NYANZA)

HEMOGLOBIN J (OXFORD)

HEMOGLOBIN J (PARIS 1)

HEMOGLOBIN J (PARIS 2)

HEMOGLOBIN J (PONTOISE)

HEMOGLOBIN J (RAJAPPEN)

HEMOGLOBIN J (RAMBAM)

HEMOGLOBIN J (ROVIGO)

HEMOGLOBIN J (SARDEGNA)

HEMOGLOBIN J (SICILIA)

HEMOGLOBIN J (SINGA)

HEMOGLOBIN J (SINGAPORE)

HEMOGLOBIN J (TAICHUNG)

HEMOGLOBIN J (TASHIKUERGAN)

HEMOGLOBIN J (TONGARIKI)

HEMOGLOBIN J (TORONTO)

HEMOGLOBIN J (WENCHANG-WUMING)

HEMOGLOBIN JACKSON

HEMOGLOBIN JACKSONVILLE

HEMOGLOBIN JAMAICPLAIN

HEMOGLOBIN JENKINS

HEMOGLOBIN JIANGHUA

HEMOGLOBIN JINAN

HEMOGLOBIN JOHNSTOWN

HEMOGLOBIN K (CAMEROON)

HEMOGLOBIN K (IBADAN)

HEMOGLOBIN K (WOOLWICH)

HEMOGLOBIN KAGOSHIMA

HEMOGLOBIN KAIROUAN

HEMOGLOBIN KANAGAWA

HEMOGLOBIN KANSAS

HEMOGLOBIN KAOHSIUNG

HEMOGLOBIN KARACHI

HEMOGLOBIN KARATSU

HEMOGLOBIN KARIYA

HEMOGLOBIN KARLSKOGA

HEMOGLOBIN KAWACHI

HEMOGLOBIN KEMPSEY

HEMOGLOBIN KENITRA

HEMOGLOBIN KENWOOD

HEMOGLOBIN KHARTOUM

HEMOGLOBIN KNOSSOS

HEMOGLOBIN KNOXVILLE-1

HEMOGLOBIN KOBE

HEMOGLOBIN KOCHI

HEMOGLOBIN KODAIRA

HEMOGLOBIN KODAIRII

HEMOGLOBIN KOELLIKER

HEMOGLOBIN KOFU

HEMOGLOBIN KOKURA

HEMOGLOBIN KOLN

HEMOGLOBIN KOREA

HEMOGLOBIN KORLE-BU

HEMOGLOBIN KOYDORA

HEMOGLOBIN KURASHIKI

HEMOGLOBIN KURDISTAN

HEMOGLOBIN KUROSAKI

HEMOGLOBIN L (FERRARA)

HEMOGLOBIN L (GASLINI)

HEMOGLOBIN L (PERSIAN GULF)

HEMOGLOBIN LAS PALMAS

HEMOGLOBIN LCORUNA

HEMOGLOBIN LDESIRADE

HEMOGLOBIN LE LAMENTIN

HEMOGLOBIN LEGNANO

HEMOGLOBIN LEIDEN

HEMOGLOBIN LEPORE (BALTIMORE)

Hemoglobin Lepore - beta-thalassemia

HEMOGLOBIN LESLIE

HEMOGLOBIN LILLE

HEMOGLOBIN LIMASSOL

HEMOGLOBIN LINCOLN PARK

HEMOGLOBIN LINKOPING

HEMOGLOBIN LISBON

HEMOGLOBIN LITTLE ROCK

HEMOGLOBIN LOIRE

HEMOGLOBIN LOMBARD

HEMOGLOBIN LOUISVILLE

HEMOGLOBIN LROCHE-SUR-YON

HEMOGLOBIN LUCKNOW

HEMOGLOBIN LUFKIN

HEMOGLOBIN LUTON

HEMOGLOBIN LUXEMBOURG

HEMOGLOBIN LYON

HEMOGLOBIN M (AKITA)

HEMOGLOBIN M (BOSTON)

HEMOGLOBIN M (FREIBURG)

HEMOGLOBIN M (GOTHENBURG)

HEMOGLOBIN M (HYDE PARK)

HEMOGLOBIN M (IWATE)

HEMOGLOBIN M (KANKAKEE)

HEMOGLOBIN M (KISKUNHALAS)

HEMOGLOBIN M (MILWAUKEE 1)

HEMOGLOBIN M (MILWAUKEE 2)

HEMOGLOBIN M (OLDENBURG)

HEMOGLOBIN M (OSAKA)

HEMOGLOBIN M (SASKATOON)

HEMOGLOBIN M (SENDAI)

HEMOGLOBIN MACHIDA

HEMOGLOBIN MADRID

HEMOGLOBIN MAHIDOL

HEMOGLOBIN MALAY

HEMOGLOBIN MALHACEN

HEMOGLOBIN MALMO

HEMOGLOBIN MANAWATU

HEMOGLOBIN MANHATTAN

HEMOGLOBIN MANITOBA

HEMOGLOBIN MANTES-LA-JOLIE

HEMOGLOBIN MANUKAU

HEMOGLOBIN MAPUTO

HEMOGLOBIN MARINEO

HEMOGLOBIN MARSEILLE

HEMOGLOBIN MASUDA

HEMOGLOBIN MATERA

HEMOGLOBIN MATSUE-OKI

HEMOGLOBIN MCKEES ROCKS

HEMOGLOBIN MEDICINE LAKE

HEMOGLOBIN MEILAHTI

HEMOGLOBIN MELUSINE

HEMOGLOBIN MEMPHIS

HEMOGLOBIN MEQUON

HEMOGLOBIN MEXICO

HEMOGLOBIN MICHIGAN-I

HEMOGLOBIN MICHIGAN-II

HEMOGLOBIN MILLEDGEVILLE

HEMOGLOBIN MINNEAPOLIS-LAOS

HEMOGLOBIN MISSISSIPPI

HEMOGLOBIN MITO

HEMOGLOBIN MIYANO

HEMOGLOBIN MIYASHIRO

HEMOGLOBIN MIZUHO

HEMOGLOBIN MIZUNAMI

HEMOGLOBIN MIZUSHI

HEMOGLOBIN MOABIT

HEMOGLOBIN MOBILE

HEMOGLOBIN MOLFETTA

HEMOGLOBIN MONT SAINT-AIGNAN

HEMOGLOBIN MONTEFIORE

HEMOGLOBIN MONTGOMERY

HEMOGLOBIN MORIGUCHI

HEMOGLOBIN MOSCVA

HEMOGLOBIN MOSELLA

HEMOGLOBIN MOZHAISK

HEMOGLOBIN MS

HEMOGLOBIN MUGINO

HEMOGLOBIN MUNAKATA

HEMOGLOBIN MUSCAT

HEMOGLOBIN MUSKEGON

HEMOGLOBIN N (BALTIMORE)

HEMOGLOBIN N (COSENZA)

HEMOGLOBIN N (JENKINS)

HEMOGLOBIN N (SEATTLE)

HEMOGLOBIN N (TIMONE)

HEMOGLOBIN NAGASAKI

HEMOGLOBIN NAGOYA

HEMOGLOBIN NAKANO

HEMOGLOBIN NATAL

HEMOGLOBIN NEAPOLIS

HEMOGLOBIN NECKER ENFANTS-MALADES

HEMOGLOBIN NEVERS

HEMOGLOBIN NEW MEXICO

HEMOGLOBIN NEW YORK

HEMOGLOBIN NEWCASTLE

HEMOGLOBIN NIGERIA

HEMOGLOBIN NIJKERK

HEMOGLOBIN NIKAIA

HEMOGLOBIN NIKOSIA

HEMOGLOBIN NISHIK

HEMOGLOBIN NITEROI

HEMOGLOBIN NOKO

HEMOGLOBIN NORFOLK

HEMOGLOBIN NORTH CHICAGO

HEMOGLOBIN NORTH SHORE

HEMOGLOBIN NORTH SHORE-CARACAS

HEMOGLOBIN NORTON

HEMOGLOBIN NOTTINGHAM

HEMOGLOBIN NOUAKCHOTT

HEMOGLOBIN NUNOBIKI

HEMOGLOBIN NYU

HEMOGLOBIN O (ARAB)

HEMOGLOBIN O (BUGINESE-X)

HEMOGLOBIN O (INDONESIA)

HEMOGLOBIN O (OLIVIERE)

HEMOGLOBIN O (PADOVA)

HEMOGLOBIN O (TIBESTI)

HEMOGLOBIN OCHO RIOS

HEMOGLOBIN OEGSTGEEST

HEMOGLOBIN OGI

HEMOGLOBIN OHIO

HEMOGLOBIN OITA

HEMOGLOBIN OKALOOSA

HEMOGLOBIN OKAYAMA

HEMOGLOBIN OKAZAKI

HEMOGLOBIN OLD DOMINION

HEMOGLOBIN OLEANDER

HEMOGLOBIN OLIVIERE

HEMOGLOBIN OLMSTED

HEMOGLOBIN OLOMOUC

HEMOGLOBIN OLYMPIA

HEMOGLOBIN OSLER

HEMOGLOBIN OSU CHRISTIANSBORG

HEMOGLOBIN OTTAWA

HEMOGLOBIN OWARI

HEMOGLOBIN OZIERI

HEMOGLOBIN P

HEMOGLOBIN P (GALVESTON)

HEMOGLOBIN PAKSE

HEMOGLOBIN PALMERSTON NORTH

HEMOGLOBIN PARK RIDGE

HEMOGLOBIN PART-DIEU

HEMOGLOBIN PASADENA

HEMOGLOBIN PASSY

HEMOGLOBIN PAVIE

HEMOGLOBIN PERSPOLIS

HEMOGLOBIN PERTH

HEMOGLOBIN PETAH TIKVA

HEMOGLOBIN PETERBOROUGH

HEMOGLOBIN PHILLY

HEMOGLOBIN PIERRE-BENITE

HEMOGLOBIN PITIE-SALPETRIERE

HEMOGLOBIN PLASENCIA

HEMOGLOBIN POCOS DE CALDAS

HEMOGLOBIN POISSY

HEMOGLOBIN POITIERS

HEMOGLOBIN PONTOISE

HEMOGLOBIN PORT HURON

HEMOGLOBIN PORT PHILLIP

HEMOGLOBIN PORTO ALEGRE

HEMOGLOBIN POTOMAC

HEMOGLOBIN PRATO

HEMOGLOBIN PRESBYTERIAN

HEMOGLOBIN PROVIDENCE

HEMOGLOBIN PUTTELANGE

HEMOGLOBIN PYRGOS

HEMOGLOBIN Q

HEMOGLOBIN Q (INDIA)

HEMOGLOBIN Q (IRAN)

HEMOGLOBIN Q (THAILAND)

HEMOGLOBIN QUEBEC-CHORI

HEMOGLOBIN QUEENS

HEMOGLOBIN QUESTEMBERT

HEMOGLOBIN QUIN-HAI

HEMOGLOBIN QUONG SZE

HEMOGLOBIN RADCLIFFE

HEMOGLOBIN RAHERE

HEMOGLOBIN RAINIER

HEMOGLOBIN RALEIGH

HEMOGLOBIN RAMONA

HEMOGLOBIN RAMPA

HEMOGLOBIN RANCHO MIRAGE

HEMOGLOBIN RANDWICK

HEMOGLOBIN REDONDO

HEMOGLOBIN REGINA

HEMOGLOBIN REIMS

HEMOGLOBIN REISSMANN ET AL.

HEMOGLOBIN RENERT

HEMOGLOBIN RICCARTON

HEMOGLOBIN RICHMOND

HEMOGLOBIN RIO CLARO

HEMOGLOBIN RIO GRANDE

HEMOGLOBIN RIVERDALE-BRONX

HEMOGLOBIN RIYADH

HEMOGLOBIN ROANNE

HEMOGLOBIN ROCKFORD

HEMOGLOBIN ROSEAU-POINTE PITRE

HEMOGLOBIN ROTHSCHILD

HEMOGLOBIN ROUBAIX

HEMOGLOBIN ROUEN

HEMOGLOBIN RUSH

HEMOGLOBIN RUSS

HEMOGLOBIN S

HEMOGLOBIN S (ANTILLES)

HEMOGLOBIN S (CAMEROON)

HEMOGLOBIN S (OMAN)

HEMOGLOBIN S (PROVIDENCE)

HEMOGLOBIN S (TRAVIS)

HEMOGLOBIN SAALE

HEMOGLOBIN SABINE

HEMOGLOBIN SAGAMI

HEMOGLOBIN SAINT ETIENNE

HEMOGLOBIN SAINT JACQUES

HEMOGLOBIN SAINT NAZAIRE

HEMOGLOBIN SAITAMA

HEMOGLOBIN SAKI

HEMOGLOBIN SALLANCHES

HEMOGLOBIN SAN ANTONIO

HEMOGLOBIN SAN DIEGO

HEMOGLOBIN SAN FRANCISCO (PACIFIC)

HEMOGLOBIN SANTANA

HEMOGLOBIN SANTANDER

HEMOGLOBIN SANTCLARA

HEMOGLOBIN SARATOGSPRINGS

HEMOGLOBIN SARREBOURG

HEMOGLOBIN SASSARI

HEMOGLOBIN SAVANNAH

HEMOGLOBIN SAVARIA

HEMOGLOBIN SAVERNE

HEMOGLOBIN SAWARA

HEMOGLOBIN SEAL ROCK

HEMOGLOBIN SEALY

HEMOGLOBIN SEATTLE

HEMOGLOBIN SENDAGI

HEMOGLOBIN SERBIA

HEMOGLOBIN SETIF

HEMOGLOBIN SHAARE ZEDEK

HEMOGLOBIN SHANGHAI

HEMOGLOBIN SHELBY

HEMOGLOBIN SHENYANG

HEMOGLOBIN SHEPHERDS BUSH

HEMOGLOBIN SHERWOOD FOREST

HEMOGLOBIN SHIMONOSEKI

HEMOGLOBIN SHOWA-YAKUSHIJI

HEMOGLOBIN SHUANGFENG

HEMOGLOBIN SIAM

HEMOGLOBIN SILVER SPRINGS

HEMOGLOBIN SINAI

HEMOGLOBIN SINGAPORE

HEMOGLOBIN SIRIRAJ

HEMOGLOBIN SITIA

HEMOGLOBIN SOGN

HEMOGLOBIN SOUTH FLORIDA

HEMOGLOBIN SOUTH MILWAUKEE

HEMOGLOBIN SOUTHAMPTON

HEMOGLOBIN SPANISH TOWN

HEMOGLOBIN SPARTA

HEMOGLOBIN ST. ANTOINE

HEMOGLOBIN ST. CLAUDE

HEMOGLOBIN ST. FRANCIS

HEMOGLOBIN ST. LOUIS

HEMOGLOBIN ST. LUKE'S

HEMOGLOBIN ST. LUKES

HEMOGLOBIN ST. MANDE

HEMOGLOBIN STANLEYVILLE-I

HEMOGLOBIN STANLEYVILLE-II

HEMOGLOBIN STANMORE

HEMOGLOBIN STRASBOURG

HEMOGLOBIN STRUMICA

HEMOGLOBIN SUAN-DOK

HEMOGLOBIN SUMMER HILL

HEMOGLOBIN SUN PRAIRIE

HEMOGLOBIN SUNNYBROOK

HEMOGLOBIN SUNSHINE SETH

HEMOGLOBIN SURESNES

HEMOGLOBIN SWAN RIVER

HEMOGLOBIN SYDNEY

HEMOGLOBIN SYRACUSE

HEMOGLOBIN T (CAMBODIA)

HEMOGLOBIN T LANGE LAND

HEMOGLOBIN TA-LI

HEMOGLOBIN TACOMA

HEMOGLOBIN TAGAWI

HEMOGLOBIN TAGAWII

HEMOGLOBIN TAK

HEMOGLOBIN TAKAMATSU

HEMOGLOBIN TAMANO

HEMOGLOBIN TAMPA

HEMOGLOBIN TARRANT

HEMOGLOBIN TATRAS

HEMOGLOBIN TAYBE

HEMOGLOBIN TENDE

HEMOGLOBIN TERRE HAUTE

HEMOGLOBIN THAILAND

HEMOGLOBIN THIONVILLE

HEMOGLOBIN TIANSHUI

HEMOGLOBIN TIGRAYE

HEMOGLOBIN TILBURG

HEMOGLOBIN TITUSVILLE

HEMOGLOBIN TIZI-OUZOU

HEMOGLOBIN TOCHIGI

HEMOGLOBIN TOKONAME

HEMOGLOBIN TOKYO

HEMOGLOBIN TONOSHO

HEMOGLOBIN TORINO

HEMOGLOBIN TOTTORI

HEMOGLOBIN TOULON

HEMOGLOBIN TOULOUSE

HEMOGLOBIN TOURS

HEMOGLOBIN TOYAMA

HEMOGLOBIN TOYOAKE

HEMOGLOBIN TRENTO

HEMOGLOBIN TRIPOLI

HEMOGLOBIN TROLLHAETTAN

HEMOGLOBIN TSUKUMI

HEMOGLOBIN TSURUMAI

HEMOGLOBIN TUBINGEN

HEMOGLOBIN TUNIS

HEMOGLOBIN TUNIS-BIZERTE

HEMOGLOBIN TURRIFF

HEMOGLOBIN TWIN PEAKS

HEMOGLOBIN TY GARD

HEMOGLOBIN TYNE

HEMOGLOBIN UBE-1

HEMOGLOBIN UBE-2

HEMOGLOBIN UBE-4

HEMOGLOBIN UMI

HEMOGLOBIN UPPSALA

HEMOGLOBIN UTSUNOMIYA

HEMOGLOBIN VAASA

HEMOGLOBIN VAL DE MARNE

HEMOGLOBIN VALLETTA

HEMOGLOBIN VANCOUVER

HEMOGLOBIN VANDERBILT

HEMOGLOBIN VICKSBURG

HEMOGLOBIN VILLAVERDE

HEMOGLOBIN VILLEJUIF

HEMOGLOBIN VILLEURBANNE

HEMOGLOBIN VILREAL

HEMOGLOBIN VOLGA

HEMOGLOBIN WARSAW

HEMOGLOBIN WARWICKSHIRE

HEMOGLOBIN WASHTENAW

HEMOGLOBIN WATFORD

HEMOGLOBIN WATTS

HEMOGLOBIN WAYNE

HEMOGLOBIN WESTMEAD

HEMOGLOBIN WIEN

HEMOGLOBIN WILLAMETTE

HEMOGLOBIN WINDSOR

HEMOGLOBIN WINNIPEG

HEMOGLOBIN WOOD

HEMOGLOBIN WOODVILLE

HEMOGLOBIN WUMING

HEMOGLOBIN YAHATA

HEMOGLOBIN YAIZU

HEMOGLOBIN YAKIMA

HEMOGLOBIN YAMAGATA

HEMOGLOBIN YAOUNDE

HEMOGLOBIN YATSUSHIRO

HEMOGLOBIN YOKOHAMA

HEMOGLOBIN YORK

HEMOGLOBIN YOSHIZUKA

HEMOGLOBIN YPSILANTI

HEMOGLOBIN YUDA

HEMOGLOBIN YUKUHASHI

HEMOGLOBIN YUKUHASHI-2

HEMOGLOBIN YUSA

HEMOGLOBIN ZAMBIA

HEMOGLOBIN ZENGCHENG

HEMOGLOBIN ZIGUINCHOR

HEMOGLOBIN ZOETERWOUDE

HEMOGLOBIN ZURICH

HEMOGLOBIN ZURICH ALBISRIEDEN

HEMOGLOBIN--ALPHLOCUS 1

HEMOGLOBIN--BETLOCUS

Hemoglobinopathy Toms River

Hemoglobins

Hemolytic anemia

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Hemolytic anemia due to glutathione reductase deficiency

Hemolytic anemia due to hexokinase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY;

Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY

HEMOLYTIC ANEMIDUE TO UMPH1 DEFICIENCY

Hemolytic uremic syndrome atypical 1

Hemolytic uremic syndrome atypical 3

Hemolytic uremic syndrome atypical 5

Hemolytic uremic syndrome atypical 6

Hemolytic uremic syndrome atypical 7

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6

Hemolytic uremic syndrome, atypical, susceptibility to, 7

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SUSCEPTIBILITY TO

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5

HEMOPHILIA

HEMOPHILIB

HEMOPHILIB(M)

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO

HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation

Hemosiderosis, systemic, due to aceruloplasminemia

Hemostatic factors and hematological phenotypes

Hennekam lymphangiectasia-lymphedema syndrome (HLLS)

HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMSYNDROME

Hennekam syndrome

HEPARIN COFACTOR II DEFICIENCY

HEPATIC ADENOMAS, FAMILIAL

HEPATIC LIPASE DEFICIENCY

Hepatic veno-occlusive disease - immunodeficiency

HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY

Hepatitis B

Hepatitis B (viral clearance)

Hepatitis B vaccine response

HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Hepatitis C induced liver cirrhosis

Hepatitis C induced liver fibrosis

HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF

HEPATITIS C VIRUS, SUSCEPTIBILITY TO

HEPATOBLASTOMA

HEPATOBLASTOMA, SOMATIC

HEPATOCELLULAR CARCINOMA

Hepatocellular carcinoma (hepatitis B virus related)

HEPATOCELLULAR CARCINOMA, SOMATIC

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1

Hepatoerythropoietic porphyria

Hepcidin levels

Hereditary acrokeratotic poikiloderma, Weary type

Hereditary acrodermatitis enteropathica

Hereditary angioedema

Hereditary angioedema type 1

Hereditary angioedema type 2

Hereditary angioedema type 3

Hereditary angioneurotic edema with normal C1 esterase inhibitor activity

Hereditary aplastic anemia

Hereditary arterial and articular multiple calcification syndrome

Hereditary breast and ovarian cancer syndrome

Hereditary breast cancer

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

Hereditary central diabetes insipidus

Hereditary cerebral amyloid angiopathy, Icelandic type

Hereditary cerebral cavernous malformation

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Hereditary cerebral hemorrhage with amyloidosis, Flemish type

Hereditary cerebral hemorrhage with amyloidosis, Icelandic type

Hereditary cerebral hemorrhage with amyloidosis, Iowa type

Hereditary cerebral hemorrhage with amyloidosis, Italian type

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Hereditary chronic pancreatitis

Hereditary combined deficiency of vitamin K-dependent clotting factors

Hereditary continuous muscle fiber activity

Hereditary coproporphyria

Hereditary cryohydrocytosis with reduced stomatin

Hereditary cutaneous melanoma

Hereditary diffuse gastric cancer

Hereditary factor I deficiency disease

Hereditary factor II deficiency disease

Hereditary factor IX deficiency disease

Hereditary factor VIII deficiency disease

Hereditary factor XI deficiency disease

Hereditary folate malabsorption

Hereditary folate malabsorption (HFM)

Hereditary fructose intolerance

Hereditary fructosuria

Hereditary gingival fibromatosis

Hereditary hearing loss and deafness

Hereditary hemochromatosis

HEREDITARY HEMORRHAGIC TELANGIECTASIA

Hereditary hemorrhagic telangiectasia type 1

Hereditary hemorrhagic telangiectasia type 2

Hereditary hypercarotenemia and vitamin deficiency

Hereditary hyperekplexia

Hereditary hyperferritinemia with congenital cataracts

Hereditary hyperferritinemia-cataract syndrome (HHCS)

Hereditary hypophosphatemic rickets with hypercalciuria

Hereditary hypotrichosis with recurrent skin vesicles

Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia

Hereditary insensitivity to pain with anhidrosis

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

Hereditary liability to pressure palsies

Hereditary Lymphedema II

Hereditary lymphedema type I

Hereditary mixed polyposis syndrome

Hereditary mixed polyposis syndrome 1

Hereditary motor and sensory neuropathy type 5

Hereditary motor and sensory neuropathy type 6

HEREDITARY MOTOR AND SENSORY NEUROPATHY VI

Hereditary motor and sensory neuropathy with optic atrophy

Hereditary motor and sensory neuropathy, Okinawa type

HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

Hereditary multiple exostoses 1

Hereditary multiple exostoses type 1 (EXT1)

Hereditary myoclonus - progressive distal muscular atrophy

HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hereditary neuralgic amyotrophy

Hereditary neuropathy with liability to pressure palsies

Hereditary neutrophilia

Hereditary non-polyposis colorectal cancer 1

Hereditary non-polyposis colorectal cancer 2

Hereditary non-polyposis colorectal cancer 5

Hereditary non-polyposis colorectal cancer 6

Hereditary non-polyposis colorectal cancer 7

Hereditary nonpolyposis colon cancer

Hereditary nonpolyposis colorectal cancer type 4

Hereditary nonpolyposis colorectal cancer type 6

Hereditary nonpolyposis colorectal cancer type 7

Hereditary nonpolyposis colorectal cancer type 8

Hereditary North American Indian childhood cirrhosis

Hereditary orotic aciduria

Hereditary pancreatitis

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Paragangliomas and Pheochromocytomas

Hereditary persistence of alpha-fetoprotein

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN

Hereditary persistence of fetal hemoglobin - beta-thalassemia

Hereditary persistence of fetal hemoglobin - sickle cell disease

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED

Hereditary pheochromocytoma-paraganglioma

Hereditary proximal myopathy with early respiratory failure

Hereditary pyropoikilocytosis

Hereditary renal hypouricemia

Hereditary sclerosing poikiloderma with tendon and pulmonary involvement

Hereditary sensorimotor neuropathy with hyperelastic skin

Hereditary sensory and autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 2

Hereditary sensory and autonomic neuropathy type 4

Hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy type IIA

Hereditary sensory and autonomic neuropathy type IIB

Hereditary sensory and autonomic neuropathy with spastic paraplegia

Hereditary sideroblastic anemia

Hereditary site-specific ovarian cancer syndrome

Hereditary Spastic Paraparesis

Hereditary Spastic Paraplegia

Hereditary spherocytosis

Hereditary thrombocytosis with transverse limb defect

Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital protein C deficiency

Hereditary thrombophilia due to congenital protein S deficiency

Hereditary vascular retinopathy

Heritable pulmonary arterial hypertension

Hermansky Pudlak syndrome 2

Hermansky-Pudlak Syndrome

HERMANSKY-PUDLAK SYNDROME 1

HERMANSKY-PUDLAK SYNDROME 2

HERMANSKY-PUDLAK SYNDROME 3

HERMANSKY-PUDLAK SYNDROME 4

Hermansky-Pudlak syndrome 5

HERMANSKY-PUDLAK SYNDROME 6

HERMANSKY-PUDLAK SYNDROME 7

HERMANSKY-PUDLAK SYNDROME 8

Hermansky-Pudlak syndrome 9

Hermansky-Pudlak syndrome type 7

Hermansky-Pudlak syndrome type 8

Hermansky-Pudlak syndrome type 9

Hermansky-Pudlak syndrome with neutropenia

Hermansky-Pudlak syndrome with pulmonary fibrosis

Hermansky-Pudlak syndrome without pulmonary fibrosis

HERNS syndrome

Herpes simplex encephalitis 2

Herpes simplex encephalitis 4

HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1

HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2

HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3

HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4

Herpetic encephalitis

HESX1-Related Combined Pituitary Hormone Deficiency

Heterotaxy Syndrome

HETEROTAXY, VISCERAL, 1, X-LINKED

HETEROTAXY, VISCERAL, 2, AUTOSOMAL

HETEROTAXY, VISCERAL, 4, AUTOSOMAL

HETEROTAXY, VISCERAL, 5, AUTOSOMAL

HETEROTAXY, VISCERAL, 6, AUTOSOMAL

Heterotaxy, visceral, X-linked

HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT

Heterotopia, periventricular, autosomal recessive

HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT

HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT

HEXA, Czechoslovakian allele

Hexa, dn allele

HEXB POLYMORPHISM

HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM

HFE INTRONIC POLYMORPHISM

HFE POLYMORPHISM

HHH SYNDROME

HIBCH deficiency

Hidradenitis suppurativa, familial

Hidrotic ectodermal dysplasia

Hidrotic ectodermal dysplasia syndrome

HIGH BONE MASS

High bone mass osteogenesis imperfecta

High bone mass trait (HBM)

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13

High density lipoprotein cholesterol level quantitative trait locus 6

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9

HIGH DENSITY LIPOPROTEIN DEFICIENCY

High density lipoprotein deficiency 1

High density lipoprotein deficiency 2

High density lipoprotein deficiency, type 2

HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY

High myopia-sensorineural deafness syndrome

High-arched palate

High-density lipoprotein cholesterol

Hip

Hip bone size

Hip geometry

Hippocampal atrophy

Hippocampal volume

Hippocampus

Hirschsprung disease

Hirschsprung disease 1

Hirschsprung disease 2

Hirschsprung disease 3

Hirschsprung disease 4

Hirschsprung disease ganglioneuroblastoma

HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION

HIRSCHSPRUNG DISEASE, PROTECTION AGAINST

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4

Hirschsprung's disease

Hirsutism

HIS2*1/HIS2*2 POLYMORPHISM

HISTIDINEMIA

Histiocytic medullary reticulosis

Histiocytoid cardiomyopathy

HISTIOCYTOMA, ANGIOMATOID FIBROUS

Histiocytosis with joint contractures and sensorineural deafness

HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

HIV-1 control

HIV-1 progression

HIV-1 replication

HIV-1 susceptibility

HIV-1 viral setpoint

HIV-1 VIREMIA, SUSCEPTIBILITY TO

HIV-associated dementia

HMG-Cosynthase deficiency

HNF4A-Related Maturity-Onset Diabetes of the Young Type 1

HNSHdue to aldolase A deficiency

Hoarding

Hodgkin lymphoma

Hodgkin's lymphoma

Holmes-Gang syndrome

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Holoprosencephaly

Holoprosencephaly 11

HOLOPROSENCEPHALY 2

HOLOPROSENCEPHALY 3

HOLOPROSENCEPHALY 4

HOLOPROSENCEPHALY 5

Holoprosencephaly 7

HOLOPROSENCEPHALY 9

Holoprosencephaly type 3 (HPE3)

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Holoprosencephaly-7

HOLT-ORAM SYNDROME

Holt-Oram syndrome (HOS)

HOMA-B levels

Homeostasis model assessment of beta-cell function (interaction)

Homeostasis model assessment of insulin resistance (interaction)

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Homoarginine levels

Homocysteine levels

HOMOCYSTEINE, TOTAL PLASMA, ELEVATED

HOMOCYSTEINEMIA

Homocysteinemia due to MTHFR deficiency

HOMOCYSTEINURIDUE TO MTHFR DEFICIENCY

Homocystinuria due to methylenetetrahydrofolate reductase deficiency

HOMOCYSTINURIA, cblD TYPE, VARIANT 1

HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE

HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE

Homocystinuria-megaloblastic anemia, cbl E type

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIDUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE

HOMOCYSTINURIDUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

HOMOCYSTINURIDUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE

HOMOCYSTINURIDUE TO MTHFR DEFICIENCY

Homozygous familial hypercholesterolemia

Honey-droplet corneal dystrophy

Horizontal gaze palsy with progressive scoliosis

Hormone measurements

Howel-Evans syndrome

Hoyeraal Hreidarsson syndrome

HOYERAAL-HREIDARSSON SYNDROME

HPRT ANN ARBOR

HPRT ARLINGTON

HPRT ASHVILLE

HPRT DETROIT

HPRT EDINBURGH

HPRT EVANSVILLE

HPRT FLINT

HPRT FUJIMI

HPRT KINSTON

HPRT LONDON

HPRT MIDLAND

HPRT MILWAUKEE

HPRT MONTREAL

HPRT MOOSE JAW

HPRT MUNICH

HPRT NEW BRITON

HPRT NEW HAVEN

HPRT PARIS

HPRT SWAN

HPRT TOKYO

HPRT TOOWONG

HPRT TORONTO

HPRT URANGAN

HPRT YALE

HPV seropositivity

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO

Human piebaldism

HUNTINGTON DISEASE

HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 2

Huntington disease-like syndrome due to C9ORF72 expansions

HURLER SYNDROME

HURLER-SCHEIE SYNDROME

Hurthle cell carcinoma of thyroid

Hutchinson-Gilford progeria syndrome (HGPS)

HUTCHINSON-GILFORD PROGERISYNDROME

HUTCHINSON-GILFORD PROGERISYNDROME, ATYPICAL

HUTCHINSON-GILFORD PROGERISYNDROME, CHILDHOOD-ONSET

Hutchinson-Gilford syndrome

Hyaline body myopathy

HYALINE FIBROMATOSIS SYNDROME

Hyaluronidase deficiency

Hydatidiform mole

HYDATIDIFORM MOLE, RECURRENT, 1

HYDATIDIFORM MOLE, RECURRENT, 2

Hydranencephaly

HYDRANENCEPHALY WITH ABNORMAL GENITALIA

Hydrocephalus

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)

Hydrocephalus with stenosis of the aqueduct of Sylvius

HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1

HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2

HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE

Hydrolethalus

HYDROLETHALUS SYNDROME

HYDROLETHALUS SYNDROME 1

HYDROLETHALUS SYNDROME 2

Hydrolethalus syndrome type 1 (HLS1)

Hydronephrosis

Hydrops fetalis

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM)

HYPER-IgD SYNDROME

HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA

Hyper-IgM syndrome type 2

Hyper-IgM syndrome type 3

Hyper-IgM syndrome type 5

Hyperactive-impulsive symptoms

Hyperactivity

HYPERALDOSTERONISM, FAMILIAL, TYPE III

HYPERALPHALIPOPROTEINEMI1

HYPERALPHALIPOPROTEINEMI2

Hyperalphalipoproteinemia

Hyperammonemia due to carbonic anhydrase Vdeficiency

Hyperammonemia due to N-acetylglutamate synthetase deficiency

Hyperammonemia, type III

Hyperandrogenism due to cortisone reductase deficiency

HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO

Hyperbilirubinemia

Hyperbilirubinemia transient familial neonatal

HYPERBILIRUBINEMIA, ROTOR TYPE

HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC

HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL

HYPERBILIVERDINEMIA

HYPERCALCEMIA, INFANTILE

Hypercalcemic tumoral calcinosis

HYPERCALCIURIA, ABSORPTIVE, 2

HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING

HYPERCALCIURIC HYPERCALCEMIA

HYPERCAROTENEMIAND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT

Hyperchlorhidrosis, isolated

HYPERCHOLANEMIA, FAMILIAL

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hypercholesterolemia, autosomal dominant, 3

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE

HYPERCHOLESTEROLEMIA, FAMILIAL

HYPERCHOLESTEROLEMIA, FAMILIAL, 3

HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF

HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF

HYPERCHOLESTEROLEMIAND HYPERTRIGLYCERIDEMIA, TYPE III

HYPERCHOLESTEROLEMIDUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

HYPEREKPLEXI1, AUTOSOMAL DOMINANT

HYPEREKPLEXI1, AUTOSOMAL RECESSIVE

HYPEREKPLEXI2

HYPEREKPLEXI3

HYPEREKPLEXI3, AUTOSOMAL RECESSIVE

Hyperekplexia

Hyperekplexia - epilepsy

Hyperekplexia hereditary

HYPEREKPLEXIA, HEREDITARY 1

HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC

HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB

Hyperferritinemia cataract syndrome

HYPERFERRITINEMIWITH OR WITHOUT CATARACT

HYPERGLYCINURIA

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

Hyperimmunoglobulin D with periodic fever

Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES)

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

Hyperimmunoglobulin E syndrome

Hyperimmunoglobulinemia D and periodic fever syndrome

Hyperimmunoglobulinemia D with periodic fever

Hyperinsulinemic hypoglycemia familial 3

Hyperinsulinemic hypoglycemia familial 5

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7

Hyperinsulinism due to glucokinase deficiency

Hyperinsulinism due to HNF1deficiency

Hyperinsulinism due to HNF4deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-Codehydrogenase deficiency

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinism-hyperammonemia syndrome

Hyperkalemia

HYPERKALEMIC PERIODIC PARALYSIS

Hyperkalemic Periodic Paralysis Type 1

Hyperkeratosis

Hyperlipidemia due to hepatic triglyceride lipase deficiency

HYPERLIPIDEMIA, COMBINED, 1

HYPERLIPIDEMIA, FAMILIAL COMBINED

HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO

Hyperlipoproteinemia

Hyperlipoproteinemia 3

Hyperlipoproteinemia type 1

Hyperlipoproteinemia type 3

Hyperlipoproteinemia type 4

Hyperlipoproteinemia type 5

Hyperlipoproteinemia, type I

HYPERLIPOPROTEINEMIA, TYPE III

HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY

HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2

HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT

HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG

HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH

HYPERLIPOPROTEINEMIA, TYPE V

HYPERLIPOPROTEINEMIAND ATHEROSCLEROSIS ASSOCIATED WITH APOE5

HYPERLYSINEMIA

HYPERLYSINEMIA, TYPE I

Hypermanganesemia with dystonia, polycythemia and cirrhosis

Hypermethioninemia due to glycine N-methyltransferase deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

HYPERMETHIONINEMIDUE TO ADENOSINE KINASE DEFICIENCY

HYPERMETHIONINEMIWITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Hypernasal speech

Hyperornithinemia with gyrate atrophy of choroid and retina

Hyperornithinemia-hyperammonemia-homocitrullinuria

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)

HYPEROSTOSIS CORTICALIS GENERALISATA

HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS

Hyperoxaluria, Primary, Type 1

HYPEROXALURIA, PRIMARY, TYPE I

HYPEROXALURIA, PRIMARY, TYPE II

HYPEROXALURIA, PRIMARY, TYPE III

HYPERPARATHYROIDISM 1

HYPERPARATHYROIDISM 2

HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY

HYPERPARATHYROIDISM, NEONATAL SEVERE

HYPERPARATHYROIDISM, PRIMARY

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

Hyperphenylalaninemia

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D

HYPERPHENYLALANINEMIA, NON-PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD

Hyperphosphatasemia tarda

Hyperphosphatasemia with bone disease

Hyperphosphatasia with mental retardation (HPMR)

Hyperphosphatasia with mental retardation syndrome 4

Hyperphosphatasia-intellectual disability syndrome

HYPERPHOSPHATASIWITH MENTAL RETARDATION SYNDROME 1

HYPERPHOSPHATASIWITH MENTAL RETARDATION SYNDROME 2

HYPERPHOSPHATASIWITH MENTAL RETARDATION SYNDROME 3

HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2

HYPERPROINSULINEMIA, FAMILIAL

HYPERPROLACTINEMI(1 family)

HYPERPROLACTINEMIA

Hyperprolinemia 1

Hyperprolinemia type 1

Hyperprolinemia type 2 (HP-2)

HYPERPROLINEMIA, TYPE I

HYPERPROLINEMIA, TYPE II

HYPERPRORENINEMIA, FAMILIAL

Hypersomnia (HLA-DQB1*06:02 negative)

HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY

Hypertension

Hypertension (young onset)

Hypertension resistant to conventional therapy

Hypertension risk in short sleep duration

HYPERTENSION, DIASTOLIC, RESISTANCE TO

HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY

HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION

HYPERTENSION, ESSENTIAL

HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO

Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial

Hypertension, pregnancy-induced, susceptibility to

HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO

HYPERTHYROIDISM, FAMILIAL GESTATIONAL

HYPERTHYROIDISM, NONAUTOIMMUNE

Hyperthyroxinemia, dysalbuminemic

Hypertonia

Hypertrichotic osteochondrodysplasia

Hypertrichotic osteochondrodysplasia, Cantu type

Hypertriglyceridemia

HYPERTRIGLYCERIDEMIA, FAMILIAL

HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO

HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNmutation

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

Hypertrophy, Left Ventricular

Hypertrypsinemia, neonatal, susceptibility to

Hyperuricemia - anemia - renal failure

HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2

Hypoadiponectinemia

HYPOAGAMMAGLOBULINEMIA, X-LINKED

HYPOALPHALIPOPROTEINEMIA, PRIMARY

HYPOBETALIPOPROTEINEMIA, FAMILIAL

HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1

HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46

HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89

HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC

HYPOCALCEMIA, AUTOSOMAL DOMINANT

HYPOCALCEMIA, AUTOSOMAL DOMINANT 1

HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME

Hypocalcemia, autosomal dominant 2

Hypocalcemic vitamin D dependent rickets

Hypocalcemic vitamin D resistant rickets

Hypocalcified amelogenesis imperfecta

Hypocalciuric hypercalcemia, familial 1

Hypocalciuric hypercalcemia, familial, type 1

Hypocalciuric hypercalcemia, familial, type 3

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III

Hypoceruloplasminemia

HYPOCHONDROGENESIS

HYPOCHONDROPLASIA

Hypochondroplasia (HCH)

Hypochromic microcytic anemia with iron overload

Hypocomplementemic urticarial vasculitis

Hypodontia - dysplasia of nails

Hypodysfibrinogenemia, congenital

HYPOFIBRINOGENEMIA, CONGENITAL

Hypoglycemia with deficiency of glycogen synthetase in the liver

HYPOGLYCEMIA, LEUCINE-INDUCED

Hypogonadism

Hypogonadism LHB-related

HYPOGONADISM, MALE

HYPOGONADOTROPIC HYPOGONADISM

Hypogonadotropic hypogonadism 1 with or without anosmia

Hypogonadotropic hypogonadism 10 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA

Hypogonadotropic hypogonadism 14 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA

Hypogonadotropic hypogonadism 16 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 17 WITH ANOSMIA

Hypogonadotropic hypogonadism 17 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA

Hypogonadotropic hypogonadism 18 with or without anosmia

Hypogonadotropic hypogonadism 19 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO

Hypogonadotropic hypogonadism 2 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO

Hypogonadotropic hypogonadism 20 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

Hypogonadotropic hypogonadism 21 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 4 WITH ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA

Hypogonadotropic hypogonadism 7 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

Hypogonadotropic hypogonadism 8 with or without anosmia

HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 9 WITHOUT ANOSMIA, SUSCEPTIBILITY TO

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia with immune deficiency

Hypohidrotic ectodermal dysplasia with immunodeficiency

Hypohidrotic X-linked ectodermal dysplasia

Hypoinsulinemic hypoglycemia and body hemihypertrophy

HYPOINSULINEMIC HYPOGLYCEMIAND HEMIHYPERTROPHY

HYPOINSULINEMIC HYPOGLYCEMIWITH HEMIHYPERTROPHY

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis 1

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2

HYPOMAGNESEMI1, INTESTINAL

HYPOMAGNESEMI2, RENAL

HYPOMAGNESEMI3, RENAL

HYPOMAGNESEMI4, RENAL

HYPOMAGNESEMI5, RENAL, WITH OCULAR INVOLVEMENT

HYPOMAGNESEMI6, RENAL

Hypomagnesemia 2

Hypomaturation amelogenesis imperfecta

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Hypomyelinating leukodystrophy 7

Hypomyelinating leukodystrophy 8

Hypomyelination - congenital cataract

Hypomyelination - hypogonadotropic hypogonadism - hypodontia

Hypomyelination and Congenital Cataract

Hypomyelination with atrophy of basal ganglia and cerebellum

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity.

HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG

HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

HYPOMYELINATION, GLOBAL CEREBRAL

Hypoparathyroidism - deafness - renal disease

Hypoparathyroidism retardation dysmorphism syndrome

HYPOPARATHYROIDISM, FAMILIAL ISOLATED

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASISYNDROME

HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME

Hypoparathyroidism-retardation-dysmorphism syndrome (HRD)

Hypophosphatasia

HYPOPHOSPHATASIA, ADULT

HYPOPHOSPHATASIA, CHILDHOOD

HYPOPHOSPHATASIA, INFANTILE

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY

Hypophosphatemic rickets, AR

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2

HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT

HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Hypoplasia of the corpus callosum

Hypoplasminogenemia

Hypoplastic amelogenesis imperfecta

Hypoplastic enamel-onycholysis-hypohidrosis syndrome

Hypoplastic left heart

HYPOPLASTIC LEFT HEART SYNDROME

Hypoplastic left heart syndrome (HLHS)

HYPOPLASTIC LEFT HEART SYNDROME 1

HYPOPLASTIC LEFT HEART SYNDROME 2

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

Hypoplastic tibiae - postaxial polydactyly

HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

HYPOPROTEINEMIA, HYPERCATABOLIC

Hypospadias

HYPOSPADIAS 2, X-LINKED

Hypotelorism

Hypotension

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies

Hypothyroidism

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to TSH receptor mutations

HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT

Hypothyroidism, congenital, non-goitrous, 1

Hypothyroidism, congenital, non-goitrous, 5

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

Hypotonia - cystinuria syndrome

Hypotonia - failure to thrive - microcephaly

Hypotonia with lactic acidemia and hyperammonemia

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC

Hypotonia-cerebral atrophy-hyperglycinemia syndrome

Hypotonia-cystinuria syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Hypotrichosis - lymphedema - telangiectasia

HYPOTRICHOSIS 1

HYPOTRICHOSIS 11

HYPOTRICHOSIS 2

HYPOTRICHOSIS 3

HYPOTRICHOSIS 4

HYPOTRICHOSIS 6

HYPOTRICHOSIS 7

HYPOTRICHOSIS 8

HYPOTRICHOSIS AND RECURRENT SKIN VESICLES

Hypotrichosis simplex

Hypotrichosis simplex of the scalp

Hypotrichosis simplex of the scalp 2

Hypotrichosis with juvenile macular degeneration

HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY

Hypotrichosis-deafness syndrome

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASISYNDROME

Hypouricemia renal 2

HYPOURICEMIA, RENAL, 1

HYPOURICEMIA, RENAL, 2

Hypoventilation

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Hystrix-like ichthyosis with deafness

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I

I cell disease

ICF syndrome

Ichthyosis - hypotrichosis - sclerosing cholangitis

Ichthyosis annular epidermolytic

Ichthyosis autosomal recessive with hypotrichosis

ICHTHYOSIS BULLOSOF SIEMENS

Ichthyosis exfoliativa

Ichthyosis follicularis - alopecia - photophobia

Ichthyosis histrix, curth-macklin type

Ichthyosis hystrix of Curth-Macklin

ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE

Ichthyosis hystrix-like with deafness syndrome

ICHTHYOSIS PREMATURITY SYNDROME

ICHTHYOSIS VULGARIS

ICHTHYOSIS, BULLOUS TYPE

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING SUIT DISTRIBUTION

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9

ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis

ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

Ichthyosis, lamellar, 4

ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS

Ichthyosis, spastic quadriplegia, and mental retardation

ICHTHYOSIS, X-LINKED

Ichthyosis-hypotrichosis syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

Idiopathic aplastic anemia

Idiopathic basal ganglia calcification 5

Idiopathic bronchiectasis

Idiopathic CD4 lymphocytopenia

Idiopathic central precocious puberty

Idiopathic fibrosing alveolitis, chronic form

Idiopathic growth hormone deficiency

Idiopathic hypercalcemia of infancy

Idiopathic hypercalciuria

Idiopathic hypereosinophilic syndrome

Idiopathic hypogonadotropic hypogonadism (IHH)

Idiopathic juvenile osteoporosis

Idiopathic pulmonary arterial hypertension

Idiopathic pulmonary fibrosis

Idiopathic ventricular fibrillation, not Brugada type

IDUPSEUDODEFICIENCY

IFAP syndrome with or without BRESHECK syndrome

IFN-related cytopenia

Iga nephropathy, susceptibility to

IgE grass sensitization

IgE levels

IgE levels in asthmatics

IgE levels in asthmatics (D.f. specific)

IgE levels in asthmatics (D.p. specific)

IgE RESPONSIVENESS, ATOPIC

IgG glycosylation

IgG levels

IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF

Iglevels

IgM levels

Ignephropathy

IL21R immunodeficiency

Ileal carcinoids

Illicit drug use

IMAGe syndrome

IMINOGLYCINURIA

Iminoglycinuria, digenic

IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1

Immune dysfunction with T-cell inactivation due to calcium entry defect 2

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Immune reponse to smallpox (secreted IFN-alpha)

Immune reponse to smallpox (secreted IL-10)

Immune reponse to smallpox (secreted IL-12p40)

Immune reponse to smallpox (secreted IL-1beta)

Immune reponse to smallpox (secreted IL-2)

Immune reponse to smallpox (secreted TNF-alpha)

Immune response to anthrax vaccine

Immune response to smallpox vaccine (IL-6)

Immunodeficiency

IMMUNODEFICIENCY 10

IMMUNODEFICIENCY 11

Immunodeficiency 12

Immunodeficiency 13

IMMUNODEFICIENCY 14

IMMUNODEFICIENCY 15

IMMUNODEFICIENCY 16

IMMUNODEFICIENCY 17

IMMUNODEFICIENCY 18

IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT

IMMUNODEFICIENCY 19

IMMUNODEFICIENCY 20

IMMUNODEFICIENCY 21

IMMUNODEFICIENCY 23

IMMUNODEFICIENCY 24

IMMUNODEFICIENCY 25 (1 patient)

Immunodeficiency 8

IMMUNODEFICIENCY 9

IMMUNODEFICIENCY 9 (1 family)

Immunodeficiency by defective expression of HLclass 1

Immunodeficiency by defective expression of HLclass 2

Immunodeficiency due to a late component of complements deficiency

Immunodeficiency due to an early component of complement deficiency

Immunodeficiency due to CD25 deficiency

IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA

IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN

IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia

Immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID)

Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome

IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM

Immunodeficiency with factor H anomaly

Immunodeficiency with factor I anomaly

Immunodeficiency with hyper IgM type 1

Immunodeficiency with hyper IgM type 2

Immunodeficiency with hyper IgM type 3

Immunodeficiency with hyper IgM type 5

Immunodeficiency with hyper-IgM 3

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5

Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

IMMUNODEFICIENCY, COMMON VARIABLE, 1

IMMUNODEFICIENCY, COMMON VARIABLE, 10

IMMUNODEFICIENCY, COMMON VARIABLE, 2

IMMUNODEFICIENCY, COMMON VARIABLE, 3

IMMUNODEFICIENCY, COMMON VARIABLE, 4

IMMUNODEFICIENCY, COMMON VARIABLE, 5

IMMUNODEFICIENCY, COMMON VARIABLE, 6

IMMUNODEFICIENCY, COMMON VARIABLE, 7

IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

IMMUNODEFICIENCY, COMMON VARIABLE, 9

Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia

IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1

Immunodeficiency-centromeric instability-facial anomalies syndrome 2

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;

Immunoglobulin A

Immunoglobulin deficiency 2

IMMUNOGLOBULIN KAPPLIGHT CHAIN DEFICIENCY

Immunoglobulin-mediated membranoproliferative glomerulonephritis

IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE

IMPDH2 ENZYME ACTIVITY, VARIATION IN

Imperforate anus

Inattentive symptoms

Inclusion body myopathy 2

INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE

INCLUSION BODY MYOPATHY 3

INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Incontinentia pigmenti

Incontinentia pigmenti (IP)

Incontinentia pigmenti syndrome

Incoordination

Increased analgesia from kappa-opioid receptor agonist, female-specific

INDIAN BLOOD GROUP SYSTEM POLYMORPHISM

Indifference to pain, congenital, autosomal recessive

Infant acute respiratory distress syndrome

Infantile autosomal recessive medullary cystic kidney disease

Infantile Bartter syndrome with deafness

Infantile cerebellar-retinal degeneration

Infantile convulsions and choreoathetosis

Infantile convulsions and paroxysmal choreoathetosis, familial

Infantile cortical hyperostosis

Infantile dystonia-parkinsonism

Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Infantile epileptic-dyskinetic encephalopathy

Infantile glycine encephalopathy

Infantile GM1 gangliosidosis

Infantile histiocytoid cardiomyopathy

Infantile hypertrophic cardiomyopathy and lactic acidosis

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency

Infantile hypertrophic pyloric stenosis

Infantile hypophosphatasia

Infantile Krabbe disease

INFANTILE LIVER FAILURE SYNDROME 1

INFANTILE LIVER FAILURE SYNDROME 2

Infantile myofibromatosis 1

Infantile nephronophthisis

Infantile Nephronophthisis and Intellectual Disability

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy 1

Infantile neuroaxonal dystrophy with facial dysmorphism

Infantile onset spinocerebellar ataxia

Infantile osteopetrosis with neuroaxonal dysplasia

Infantile Parkinsonism-dystonia

Infantile Refsum disease

Infantile Refsum disease (IRD)

INFANTILE SIALIC ACID STORAGE DISEASE

INFANTILE SIALIC ACID STORAGE DISORDER

Infantile sialic acid storage disorder (ISSD)

Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease

Infantile striatonigral degeneration (SNDI)

INFANTILE SYSTEMIC HYALINOSIS

Infantile-onset ascending hereditary spastic paralysis

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS

INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND

Infertility associated with multi-tailed spermatozoa and excessive DNA

INFERTILITY, MALE AND FEMALE

Inflammation

Inflammatory biomarkers

Inflammatory bowel disease

Inflammatory bowel disease (early onset)

INFLAMMATORY BOWEL DISEASE 1

INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO

INFLAMMATORY BOWEL DISEASE 10

INFLAMMATORY BOWEL DISEASE 10, SUSCEPTIBILITY TO

INFLAMMATORY BOWEL DISEASE 13

INFLAMMATORY BOWEL DISEASE 14

INFLAMMATORY BOWEL DISEASE 17

INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST

INFLAMMATORY BOWEL DISEASE 19

INFLAMMATORY BOWEL DISEASE 25

INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE

INFLAMMATORY BOWEL DISEASE 28

INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE

Inflammatory Bowel Diseases

Inflammatory myofibroblastic tumor

INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL

Influenza

INFLUENZA, SEVERE, SUSCEPTIBILITY TO

Information processing speed

Inherited acute myeloid leukemia

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Inherited congenital spastic tetraplegia

Inherited Creutzfeldt-Jakob disease

Inherited isolated adrenal insufficiency due to CYP11A1 deficiency

Inherited Skin Fragility

INOSINE TRIPHOSPHATASE DEFICIENCY

Inosine triphosphate pyrophosphohydrolase deficiency

INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS

INSOMNIA

Insomnia (caffeine-induced)

INSULIN

INSULIN LOS ANGELES

INSULIN RESISTANCE

INSULIN RESISTANCE, SUSCEPTIBILITY TO

Insulin resistance/response

INSULIN WAKAYAMA

Insulin-dependent diabetes mellitus secretory diarrhea syndrome

Insulin-like growth factor 1 resistance to

INSULIN-LIKE GROWTH FACTOR I DEFICIENCY

Insulin-like growth factor I deficiency (IGF1 deficiency)

INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT

Insulin-like growth factors

Insulin-related traits

Insulin-resistance syndrome type A

Insulin-resistant diabetes mellitus AND acanthosis nigricans

Insulin-resistant diabetes mellitus with acanthosis nigricans type A

INTEGRIN, BETA-3

Intellectual disability

Intellectual disability - craniofacial dysmorphism - cryptorchidism

Intellectual disability - hypotonia - spasticity - sleep disorder

Intellectual disability - obesity - brain malformations - facial dysmorphism

Intellectual disability - sparse hair - brachydactyly

Intellectual disability, Birk-Barel type

Intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures

Intellectual disability, X-linked - psychosis - macroorchidism

Intellectual disability, X-linked, Cantagrel type

Intellectual disability, X-linked, Nascimento type

Intellectual disability, X-linked, Raymond type

Intellectual disability, X-linked, Siderius type

Intellectual disability, X-linked, Snyder type

Intellectual disability, X-linked, Stocco Dos Santos type

Intellectual disability, X-linked, Turner type

Intellectual disability-developmental delay-contractures syndrome

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-strabismus syndrome

Intellectual disabiltiy

Intellectual functioning disability

Intelligence

Intelligence (childhood)

Intercellular Adhesion Molecule-1

Interferon gamma receptor deficiency

Interfrontal craniofaciosynostosis

INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF

INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS

Interleukin-18 levels

Interleukin-6

Intermediate maple syrup urine disease

Intermediate maple syrup urine disease type 2

INTERMEDIATE MUSCULAR DYSTROPHY

Intermediate nemaline myopathy

Intermediate osteopetrosis

Intermediate severe Salla disease

Intermittent hydrarthrosis

Intermittent maple syrup urine disease

Interrupted aortic arch

Interstitial lung disease

INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA,

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

INTERSTITIAL NEPHRITIS, KARYOMEGALIC

INTERVERTEBRAL DISC DISEASE

INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO

INTESTINAL ATRESIA, MULTIPLE

Intestinal epithelial dysplasia

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Intestinal pseudoobstruction neuronal chronic idiopathic X-linked

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Intimal medial thickness of internal carotid artery, modifier of

Intra-Abdominal Fat

Intracranial aneurysm

Intracranial volume

Intractable childhood epilepsy with generalized tonic-clonic seizures

Intrahepatic cholestasis of pregnancy

Intraocular pressure

Intrauterine growth retardation

INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

Intravascular large B-cell lymphoma

INTRINSIC FACTOR DEFICIENCY

INTRINSIC FACTOR DEFICIENCY, CONGENITAL, SUSCEPTIBILITY TO

INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST

INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1

INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2

Iodotyrosine deiodination defect

Iodotyrosyl coupling defect

IPEX Syndrome

IRAK4 DEFICIENCY

Irido-corneo-trabecular dysgenesis

Iridogoniodysgenesis anomaly (IGDA)

Iridogoniodysgenesis type 2 (IRID2)

Iridogoniodysgenesis type1

Iridogoniodysgenesis, dominant type

IRIDOGONIODYSGENESIS, TYPE 1

IRIDOGONIODYSGENESIS, TYPE 2

IRIDsyndrome

Iris characteristics

Iris coloboma with ptosis, hypertelorism, and mental retardation

Iris color

Iron

Iron deficiency

Iron deficiency anemia

Iron levels

Iron status biomarkers

IRON-REFRACTORY IRON DEFICIENCY ANEMIA

Irregular heart beat

Irritability

Ischemic heart disease, susceptibility to

Ischemic stroke, susceptibility to

Ischiopatellar dysplasia

Islet cell hyperplasia

ISOBUTYRYL-CoDEHYDROGENASE DEFICIENCY

Isolated 17,20-lyase deficiency

Isolated 3-methylcrotonyl-Cocarboxylase deficiency

Isolated adermatoglyphia

Isolated anencephaly/exencephaly

Isolated aniridia

Isolated anophthalmia - microphthalmia

Isolated ATP synthase deficiency

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated bone marrow mastocytosis

Isolated brachycephaly

Isolated cloverleaf skull syndrome

Isolated congenital digital clubbing

Isolated congenital megalocornea

Isolated congenitally uncorrected transposition of the great arteries

Isolated CoQ-cytochrome C reductase deficiency

Isolated cytochrome C oxidase deficiency

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated delta-storage pool disease

Isolated ectopia lentis (EL)

Isolated focal cortical dysplasia type IIb

Isolated follicle stimulating hormone deficiency

Isolated follicle-stimulating hormone deficiency

Isolated growth hormone deficiency type 1B

Isolated growth hormone deficiency type IA

Isolated growth hormone deficiency type IB

Isolated growth hormone deficiency type II

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III

Isolated Klippel-Feil syndrome

Isolated lutropin deficiency

Isolated megalencephaly

Isolated NADH-CoQ reductase deficiency

Isolated optic nerve hypoplasia

Isolated osteopoikilosis

Isolated plagiocephaly

Isolated polycystic liver disease

Isolated scaphocephaly

Isolated succinate-CoQ reductase deficiency

Isolated sulfite oxidase deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated trigonocephaly

ISOVALERIC ACIDEMIA

ISOVALERIC ACIDEMIA, TYPE I

Isovaleryl-Codehydrogenase deficiency

Ivemark syndrome

IVIC SYNDROME

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J

JACKSON-WEISS SYNDROME

Jackson-Weiss syndrome (JWS)

JAGGED 1

Jakob-Creutzfeldt disease

JALILI SYNDROME

Jankovic Rivera syndrome

Jansen metaphyseal chondrodysplasia (JMC)

Jarcho-Levin syndrome

JAWAD SYNDROME

JENSEN SYNDROME

Jervell and Lange-Nielsen syndrome

JERVELL AND LANGE-NIELSEN SYNDROME 1

JERVELL AND LANGE-NIELSEN SYNDROME 2

Jervell and Lange-Nielsen syndrome type 1

Jervell and Lange-Nielsen syndrome type 2

Jeune syndrome

Jeune Syndromes

JK-NULL VARIANT, FINNISH TYPE

JMP syndrome

Job-related exhaustion

JOHANSON-BLIZZARD SYNDROME

Johanson-Blizzard syndrome (JBS)

JOUBERT SYNDROME

JOUBERT SYNDROME 1

JOUBERT SYNDROME 10

Joubert syndrome 12/15, digenic

JOUBERT SYNDROME 13

JOUBERT SYNDROME 14

Joubert syndrome 15

JOUBERT SYNDROME 16

JOUBERT SYNDROME 17

JOUBERT SYNDROME 18

Joubert syndrome 2

JOUBERT SYNDROME 20

JOUBERT SYNDROME 21

JOUBERT SYNDROME 3

JOUBERT SYNDROME 4

JOUBERT SYNDROME 5

JOUBERT SYNDROME 6

JOUBERT SYNDROME 7

JOUBERT SYNDROME 8

JOUBERT SYNDROME 9

Joubert syndrome 9/15, digenic

Joubert Syndrome and Related Disorders

Joubert syndrome type 1 (JBTS1)

Joubert syndrome type 10 (JBTS10)

Joubert syndrome type 4 (JBTS4)

Joubert syndrome type 5 (JBTS5)

Joubert syndrome type 6

Joubert syndrome type 7 (JBTS7)

Joubert syndrome with hepatic defect

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Joubert syndrome with orofaciodigital defect

Joubert syndrome with renal defect

JP and JP/HHT

JP, JP/HHT, and HHT

Jp/hht

Juberg-Marsidi syndrome

Junctional epidermolysis bullosa - pyloric atresia

Junctional epidermolysis bullosa gravis of Herlitz

Junctional epidermolysis bullosa inversa

Junctional epidermolysis bullosa, Herlitz type

JUNIOR BLOOD GROUP SYSTEM, JR(a-) PHENOTYPE

Juvenile absence epilepsy

Juvenile amyotrophic lateral sclerosis

Juvenile autosomal recessive medullary cystic kidney disease

Juvenile cataract - microcornea - renal glucosuria

Juvenile glaucoma

Juvenile GM1 gangliosidosis

Juvenile Huntington disease

JUVENILE HYALINE FIBROMATOSIS

Juvenile macular degeneration and hypotrichosis

Juvenile myelomonocytic leukemia

Juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy 1

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Juvenile nephropathic cystinosis

Juvenile neuronal ceroid lipofuscinosis

Juvenile Paget disease

Juvenile polyposis of infancy

JUVENILE POLYPOSIS SYNDROME

Juvenile polyposis syndrome (JPS)

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASISYNDROME

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASISYNDROME;

Juvenile primary lateral sclerosis

Juvenile retinitis pigmentosa, AIPL1-related

Juvenile retinoschisis

Juvenile rheumatoid factor-negative polyarthritis

Juvenile sialidosis type 2

Juvenile-onset dystonia

Top

K

Kabuki make-up syndrome

Kabuki syndrome

Kabuki syndrome (KABS)

KABUKI SYNDROME 1

KABUKI SYNDROME 2

KAHRIZI SYNDROME

KALLIKREIN 1

KALLIKREIN, DECREASED URINARY ACTIVITY OF

Kallmann Syndrome

KALLMANN SYNDROME 1

KALLMANN SYNDROME 2

KALLMANN SYNDROME 3

KALLMANN SYNDROME 4

KALLMANN SYNDROME 5

KALLMANN SYNDROME 6

Kallmann syndrome type 2 (KAL2)

Kallmann syndrome type 5 (KAL5)

Kallmann Syndrome with Deafness

KANZAKI DISEASE

Kanzaki disease (KANZD)

KAPOSI SARCOMA, SUSCEPTIBILITY TO

KARAK SYNDROME

Kartagener syndrome

Kawasaki disease

KAWASAKI DISEASE, SUSCEPTIBILITY TO

KBG syndrome

KCNQ1-related acquired long QT syndrome

KCNQ1-related Jervell and Lange-Nielsen syndrome

Kearns Sayre syndrome

KEARNS-SAYRE SYNDROME

KEL6 ANTIGEN

KELL K/k BLOOD GROUP POLYMORPHISM

KELLEY-SEEGMILLER SYNDROME

Keloid

Kennedy disease

Kenny-Caffey syndrome (KCS [MIM 127000])

Kenny-Caffey syndrome type 1 (KCS1)

KENNY-CAFFEY SYNDROME, TYPE 1

KENNY-CAFFEY SYNDROME, TYPE 2

Keratinocytic non-epidermolytic nevus

Keratitis hereditary (KERH)

KERATITIS, HEREDITARY

Keratitis-ichthyosis-deafness syndrome

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

KERATOCONUS 1

Keratoderma hereditarium mutilans

Keratoderma hereditarium mutilans with ichthyosis

Keratoderma palmoplantar deafness

Keratoderma, palmoplantar, epidermolytic

Keratoderma, palmoplantar, non-epidermolytic

Keratoderma, palmoplantar, non-epidermolytic, focal

KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

Keratosis follicularis

Keratosis follicularis spinulosa decalvans

KERATOSIS FOLLICULARIS SPINULOSDECALVANS, X-LINKED

KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITAND SCLEROSING KERATODERMA

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Keratosis palmoplantaris striata

Keratosis palmoplantaris striata 1

KERATOSIS PALMOPLANTARIS STRIATII

KERATOSIS PALMOPLANTARIS STRIATIII

KERATOSIS, SEBORRHEIC

Ketoacidosis due to betaketothiolase deficiency

Keutel syndrome

KIAA2022

KID syndrome

KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)

Kidney Diseases

Kidney stones

KIN OF IRRE-LIKE 3

KINDLER SYNDROME

Kindlers syndrome

King Denborough syndrome

King-Denborough syndrome

KININOGEN DEFICIENCY, TOTAL

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

KLEEFSTRSYNDROME

Klein-Waardenbergs syndrome

Klippel-Feil Anomaly

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT

KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE

KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT

Klippel-Feil syndrome type 1 (KFS1)

Klippel-Feil syndrome type 3 (KFS3)

Klippel-Trenaunay syndrome

KLIPPEL-TRENAUNAY-WEBER SYNDROME

KLOTHO

Knee osteoarthritis

KNIEST DYSPLASIA

Kniest dysplasia (KD)

Knobloch syndrome

KNOBLOCH SYNDROME 1

KNOBLOCH SYNDROME 2

Knobloch Syndrome Type I

KNOPS BLOOD GROUP SYSTEM

KNUCKLE PADS

Knuckle pads, deafness AND leukonychia syndrome

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Kohlschtter-Tnz Syndrome

Kohlschutter-Tonz Syndrome

Kohlschutters syndrome

Koolen-De Vries syndrome due to a point mutation

Kostmann syndrome

KOWARSKI SYNDROME

KRABBE DISEASE

KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN DEFICIENCY

KUFOR-RAKEB SYNDROME

Kugelberg-Welander disease

Kuru, protection against

KURU, SUSCEPTIBILITY TO

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L

L-2-HYDROXYGLUTARIC ACIDURIA

L-2-hydroxyglutaric aciduria (L2HGA)

L-FERRITIN DEFICIENCY

L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE

Lacrimo-auriculo-dento-digital syndrome (LADDS)

LACRIMOAURICULODENTODIGITAL SYNDROME

LACTASE DEFICIENCY, CONGENITAL

LACTASE PERSISTENCE

LACTATE DEHYDROGENASE B DEFICIENCY

Lacticacidemia due to PDX1 deficiency

LACTOSE INTOLERANCE, ADULT TYPE

LADD SYNDROME

Lafora disease

LAING DISTAL MYOPATHY

Laing early-onset distal myopathy

LAMB-2-related infantile-onset nephrotic syndrome

Lamellar ichthyosis

Laminopathy type Decaudain-Vigouroux

Landau-Kleffner syndrome

Landsteiner-Wiener phenotype

LANGER MESOMELIC DYSPLASIA

Langer mesomelic dysplasia (LMD)

Langer mesomelic dysplasia syndrome

Langer-Giedion syndrome

Langereis blood group

Language impairment

Large B-cell lymphoma

Large congenital melanocytic nevus

LARON SYNDROME

Laron syndrome with immunodeficiency

LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN

Laron-type isolated somatotropin defect

LARSEN SYNDROME

Larsen syndrome, dominant type

Larsen-like syndrome, B3GAT3 type

LARYNGOONYCHOCUTANEOUS SYNDROME

Late infantile CACH syndrome

Late-infantile/juvenile Krabbe disease

Late-onset autosomal recessive medullary cystic kidney disease

Late-onset distal myopathy, Markesbery-Griggs type

Late-onset junctional epidermolysis bullosa

Late-onset retinal degeneration

LATHOSTEROLOSIS

Lathosterolosis (LATHST)

Lattice corneal dystrophy type 3A

Lattice corneal dystrophy Type I

Lattice corneal dystrophy Type III

Laurin-Sandrow syndrome

LCAT DEFICIENCY

Lchad deficiency with maternal acute fatty liver of pregnancy

LDL (oxidized)

LDL cholesterol

Le(-) PHENOTYPE

Lean body mass and age at menarche (combined)

Leanness, inherited

LEANNESS, SUSCEPTIBILITY TO

Leber congenital amaurosis

LEBER CONGENITAL AMAUROSIS 1

LEBER CONGENITAL AMAUROSIS 10

LEBER CONGENITAL AMAUROSIS 11

LEBER CONGENITAL AMAUROSIS 12

LEBER CONGENITAL AMAUROSIS 13

LEBER CONGENITAL AMAUROSIS 14

LEBER CONGENITAL AMAUROSIS 15

LEBER CONGENITAL AMAUROSIS 16

Leber congenital amaurosis 17

Leber congenital amaurosis 2

LEBER CONGENITAL AMAUROSIS 3

LEBER CONGENITAL AMAUROSIS 4

LEBER CONGENITAL AMAUROSIS 5

LEBER CONGENITAL AMAUROSIS 6

LEBER CONGENITAL AMAUROSIS 7

LEBER CONGENITAL AMAUROSIS 8

LEBER CONGENITAL AMAUROSIS 9

Leber congenital amaurosis type 10 (LCA10)

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy with dystonia

LEBER OPTIC ATROPHY

LEBER OPTIC ATROPHY AND DYSTONIA

Leber plus disease

Lebers amaurosis

Lebers optic atrophy

Lecithin-cholesterol acyltransferase deficiency

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Left ventricular mass

Left ventricular non-compaction type 3 (LVNC3)

Left ventricular noncompaction

LEFT VENTRICULAR NONCOMPACTION 1

Left ventricular noncompaction 10

Left ventricular noncompaction 3

Left ventricular noncompaction 4

Left ventricular noncompaction 5

Left ventricular noncompaction 6

LEFT VENTRICULAR NONCOMPACTION 7

Left ventricular noncompaction 8

Left ventricular noncompaction 9

Left Ventricular Outflow Tract Obstruction (LVOTO)

LEFT-RIGHT AXIS MALFORMATIONS

LEFT-RIGHT DETERMINATION FACTOR 2

Legg-Calve-Perthes disease

Legg-Calve-Perthes disease (LCPD)

Legionellosis

LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

LEGIUS SYNDROME

Leigh syndrome

Leigh syndrome (LS)

Leigh Syndrome (nuclear DNmutation)

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY

Leigh syndrome with cardiomyopathy

Leigh syndrome with leukodystrophy

Leigh syndrome with nephrotic syndrome

LEIGH SYNDROME, FRENCH CANADIAN TYPE

LEIGH SYNDROME, FRENCH-CANADIAN TYPE

LEIGH SYNDROME, X-LINKED

Leighs disease

Leiner disease

LEIOMYOMA, UTERINE

Leishmaniasis (visceral)

Lennox-Gastaut syndrome

Lentiform nucleus volume

Lenz-Majewski hyperostotic dwarfism

LEOPARD SYNDROME

LEOPARD syndrome 1

LEOPARD SYNDROME 2

LEOPARD SYNDROME 3

LEOPARD syndrome type 1

LEOPARD syndrome type 3 (LEOPARD3)

Leprechaunism

Leprechaunism syndrome

Leprosy

Leprosy 3

Leprosy 5

LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO

LEPROSY, PROTECTION AGAINST

LEPROSY, SUSCEPTIBILITY TO, 2

LEPROSY, SUSCEPTIBILITY TO, 3

LEPROSY, SUSCEPTIBILITY TO, 4

LEPROSY, SUSCEPTIBILITY TO, 5

Leptin deficiency

LEPTIN RECEPTOR DEFICIENCY

LEPTIN RECEPTOR POLYMORPHISM

Leri Weill dyschondrosteosis

LERI-WEILL DYSCHONDROSTEOSIS

Leri-Weill dyschondrosteosis (LWD)

LESCH-NYHAN SYNDROME

Lesch-Nyhan syndrome (LNS)

LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT

Lethal acantholytic epidermolysis bullosa

Lethal arteriopathy syndrome due to Fibulin-4 deficiency

LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE

Lethal arthrogryposis - anterior horn cell disease

LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE

Lethal ataxia with deafness and optic atrophy

LETHAL CONGENITAL CONTRACTURAL SYNDROME 3

LETHAL CONGENITAL CONTRACTURE SYNDROME 1

LETHAL CONGENITAL CONTRACTURE SYNDROME 2

LETHAL CONGENITAL CONTRACTURE SYNDROME 3

LETHAL CONGENITAL CONTRACTURE SYNDROME 4

Lethal congenital contracture syndrome 5

Lethal congenital contracture syndrome type 1

Lethal congenital contracture syndrome type 2

Lethal congenital contracture syndrome type 3

Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

Lethal infantile mitochondrial myopathy

Lethal multiple pterygium syndrome

Lethal neonatal rigidity and seizure syndrome

Lethal occipital encephalocele-skeletal dysplasia syndrome

Lethal osteosclerotic bone dysplasia

Lethal polymalformative syndrome, Boissel type

Lethal restrictive dermopathy

Lethal Restrictive Dermopathy, ZMPSTE24-Related

Lethal tight skin contracture syndrome

Lethal tight skin contracture syndrome (LTSCS)

Leucine-induced hypoglycemia

LEUCINE-SENSITIVE HYPOGLYCEMIOF INFANCY

Leukemia

LEUKEMIA, ACUTE LYMPHOBLASTIC

LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO

Leukemia, acute lymphoblastic, susceptibility to, 3

LEUKEMIA, ACUTE MYELOID

Leukemia, acute myeloid, m0 subtype

LEUKEMIA, ACUTE MYELOID, SOMATIC

LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO

LEUKEMIA, CHRONIC LYMPHOCYTIC

LEUKEMIA, CHRONIC MYELOID

LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

Leukemia, megakaryoblastic, of Down syndrome

LEUKEMIA, PHILADELPHICHROMOSOME-POSITIVE, RESISTANT TO IMATINIB

Leukemia, post-chemotherapy, susceptibility to

LEUKOCYTE ADHESION DEFICIENCY

Leukocyte adhesion deficiency 1

Leukocyte adhesion deficiency type 1

Leukocyte adhesion deficiency type I

Leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type III

LEUKOCYTE ADHESION DEFICIENCY, TYPE I

LEUKOCYTE ADHESION DEFICIENCY, TYPE III

Leukocyte Count

Leukodystrophy

Leukodystrophy globoid cell

Leukodystrophy hypomyelinating type 1 (HLD1)

Leukodystrophy hypomyelinating type 4 (HLD4)

Leukodystrophy hypomyelinating type 5 (HLD5)

Leukodystrophy metachromatic

Leukodystrophy metachromatic due to saposin-B deficiency

Leukodystrophy with vanishing white matter

LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT

Leukodystrophy, hypomyelinating 3

LEUKODYSTROPHY, HYPOMYELINATING, 2

Leukodystrophy, hypomyelinating, 3

LEUKODYSTROPHY, HYPOMYELINATING, 4

LEUKODYSTROPHY, HYPOMYELINATING, 5

LEUKODYSTROPHY, HYPOMYELINATING, 6

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIAND/OR

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIAND HYPOGONADOTROPIC HYPOGONADISM

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIAND/OR

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIAND/OR HYPOGONADOTROPIC HYPOGONADISM

Leukoencephalopathy - dystonia - motor neuropathy

Leukoencephalopathy - thalamus and brainstem anomalies - high lactate

Leukoencephalopathy megalencephalic with subcortical cysts (MLC)

Leukoencephalopathy with brain stem and spinal cord involvement - high lactate

LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND

LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION

LEUKOENCEPHALOPATHY WITH DYSTONIAND MOTOR NEUROPATHY

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET

LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS

Leukoencephalopathy, megalencephalic, with subcortical cysts, 1

Leukonychia totalis

Lewy body dementia

LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY

Leydig cell agenesis

Leydig cell hypoplasia due to complete LH resistance

Leydig cell hypoplasia due to LHB deficiency

Leydig cell hypoplasia due to partial LH resistance

Leydig cell hypoplasia, partial

LEYDIG CELL HYPOPLASIA, TYPE I

LEYDIG HYPOPLASIA, TYPE I

LHERMITTE-DUCLOS DISEASE

Lhermitte-Duclos disease (LDD)

LHX4-Related Combined Pituitary Hormone Deficiency

Li-Fraumeni syndrome

LI-FRAUMENI SYNDROME 1

LI-FRAUMENI SYNDROME 2

Li-fraumeni-like syndrome

LIDDLE SYNDROME

LIEBENBERG SYNDROME

Life Expectancy

Life threatening arrhythmia

LIG4 SYNDROME

Ligamentous laxity

Ligneous conjunctivitis

Limb-girdle muscular dystrophy 1A

Limb-girdle muscular dystrophy 1C

Limb-girdle muscular dystrophy 2A

Limb-girdle muscular dystrophy 2B

Limb-girdle muscular dystrophy 2D

Limb-girdle muscular dystrophy 2E

Limb-girdle muscular dystrophy 2L

Limb-girdle muscular dystrophy type 1B (LGMD1B)

Limb-girdle muscular dystrophy type 2H (LGMD2H)

Limb-girdle muscular dystrophy type 2L (LGMD2L)

Limb-girdle muscular dystrophy, type 1A

Limb-girdle muscular dystrophy, type 1B

Limb-girdle muscular dystrophy, type 1C

Limb-girdle muscular dystrophy, type 1E

Limb-girdle muscular dystrophy, type 2A

Limb-girdle muscular dystrophy, type 2B

Limb-girdle muscular dystrophy, type 2D

Limb-girdle muscular dystrophy, type 2E

Limb-girdle muscular dystrophy, type 2F

Limb-girdle muscular dystrophy, type 2G

Limb-girdle muscular dystrophy, type 2J

Limb-girdle muscular dystrophy, type 2L

Limb-girdle muscular dystrophy, type 2S

Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

Limb-girdle muscular dystrophy-dystroglycanopathy, type C14

Limb-girdle muscular dystrophy-dystroglycanopathy, type C2

Limb-girdle muscular dystrophy-dystroglycanopathy, type C3

Limb-girdle muscular dystrophy-dystroglycanopathy, type C4

Limb-girdle muscular dystrophy-dystroglycanopathy, type C5

Limb-girdle muscular dystrophy-dystroglycanopathy, type C9

LIMB-MAMMARY SYNDROME

Limb-mammary syndrome (LMS)

Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)

Limited cutaneous systemic sclerosis

Limited systemic sclerosis

Linear nevus sebaceus syndrome

Lipase deficiency combined

LIPASE DEFICIENCY, COMBINED

Lipid levels in hepatitis C treatment

Lipid metabolism phenotypes

Lipid proteinosis

Lipid traits

Lipids

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (1 family)

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4

Lipodystrophy, familial partial, 2

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5

LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO

LIPOID CONGENITAL ADRENAL HYPERPLASIA

Lipoid proteinosis

LIPOID PROTEINOSIS OF URBACH AND WIETHE

LIPOPROTEIN GLOMERULOPATHY

LIPOPROTEIN LIPASE (OLBIA)

LIPOPROTEIN LIPASE DEFICIENCY

LIPOPROTEIN LIPASE POLYMORPHISM

Lipoprotein(a)

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL

Lipoprotein-associated phospholipase A2 activity and mass

Lipoprotein-associated phospholipase A2 activity change in response to statin therapy

Lipoproteins

Lipoproteins, HDL

Lipoproteins, LDL

Lipoproteins, VLDL

Lipoyl transferase 1 deficiency

Lissencephaly

LISSENCEPHALY 1

Lissencephaly 2

LISSENCEPHALY 3

LISSENCEPHALY 4

Lissencephaly 4 (with microcephaly)

LISSENCEPHALY 5

Lissencephaly due to LIS1 mutation

Lissencephaly due to TUBA1mutation

Lissencephaly syndrome, Norman-Roberts type

Lissencephaly type 1 (LIS1)

Lissencephaly type 1 due to doublecortin gene mutation

Lissencephaly type 3 (LIS3)

Lissencephaly X-linked type 1 (LISX1)

Lissencephaly X-linked type 2 (LISX2)

Lissencephaly, X-linked 1

LISSENCEPHALY, X-LINKED, 1

LISSENCEPHALY, X-LINKED, 2

Liver enzyme levels

Liver enzyme levels (alanine transaminase)

Liver enzyme levels (alkaline phosphatase)

Liver enzyme levels (aspartate transaminase)

Liver enzyme levels (gamma-glutamyl transferase)

Liver failure acute infantile

LIVER FAILURE, INFANTILE, TRANSIENT

LMNA-related cardiocutaneous progeria syndrome

Lobar holoprosencephaly

Lobular breast cancer (menopausal hormone therapy interaction)

LOC syndrome

Localized epidermolysis bullosa simplex

Localized junctional epidermolysis bullosa, non-Herlitz type

Loeys-Dietz syndrome

LOEYS-DIETZ SYNDROME 1

Loeys-Dietz syndrome 1B

LOEYS-DIETZ SYNDROME 2

Loeys-Dietz syndrome 2B

LOEYS-DIETZ SYNDROME 3

LOEYS-DIETZ SYNDROME 4

Loeys-Dietz syndrome type 1(LDS1A)

Loeys-Dietz syndrome type 1B

Loeys-Dietz syndrome type 2(LDS2A)

Loeys-Dietz syndrome type 3

LOEYS-DIETZ SYNDROME, TYPE 4

Long chain 3-hydroxyacyl-Codehydrogenase deficiency

Long chain acyl-Codehydrogenase deficiency

Long QT syndrome

LONG QT SYNDROME 1

LONG QT SYNDROME 1, RECESSIVE

LONG QT SYNDROME 1/2, DIGENIC

LONG QT SYNDROME 10

LONG QT SYNDROME 11

LONG QT SYNDROME 12

Long QT syndrome 13

LONG QT SYNDROME 2

LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO

LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO

LONG QT SYNDROME 2/3, DIGENIC

Long QT syndrome 2/5

Long QT syndrome 2/9, digenic

LONG QT SYNDROME 3

LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO

LONG QT SYNDROME 3/6, DIGENIC

LONG QT SYNDROME 4

LONG QT SYNDROME 5

LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO

LONG QT SYNDROME 6

LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO

LONG QT SYNDROME 9

LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO

LONG QT SYNDROME, BRADYCARDIA-INDUCED

Long QT syndrome, LQT1 subtype

Long QT syndrome-5

LONG-CHAIN 3-HYDROXYACYL-CoDEHYDROGENASE DEFICIENCY

Long-chain 3-hydroxyl-Codehydrogenase deficiency

Longevity

Loose anagen hair syndrome

LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1

LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6

Low phospholipid associated cholelithiasis

Low-density lipoprotein cholesterol

Low-set ears

LOWE OCULOCEREBRORENAL SYNDROME

Lowe oculocerebrorenal syndrome (OCRL)

Lowe syndrome

Lp (a) levels

LUBS X-LINKED MENTAL RETARDATION SYNDROME

Lucey-Driscoll syndrome

LUJAN-FRYNS SYNDROME

Lujan-Fryns syndrome (LUJFRYS)

LUMBAR DISC DISEASE, SUSCEPTIBILITY TO

LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO

Lumbosacral spina bifida aperta

Lumbosacral spina bifida cystica

Lumiracoxib-related liver injury

Lung adenocarcinoma

Lung adenocarcinoma sample

LUNG CANCER

Lung Cancer (DNrepair capacity)

Lung cancer cell line

Lung cancer cell line deficient in MHC class I presentation

Lung cancer patient

LUNG CANCER SUSCEPTIBILITY 2

LUNG CANCER, PROTECTION AGAINST

LUNG CANCER, SOMATIC

Lung cancer, susceptibility to

Lung cancer-asbestos exposure interaction

Lung carcinoma

Lung carcinoma cell

Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)

Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)

Lung function (forced expiratory volume in 1 second)

Lung function (forced vital capacity)

Lupus Erythematosus, Systemic

LUPUS NEPHRITIS, SUSCEPTIBILITY TO

Luteinizing Hormone

LUTEINIZING HORMONE POLYMORPHISM

Luteinizing hormone resistance

Luteinizing hormone resistance, female

LUTEINIZING HORMONE, BETPOLYPEPTIDE

LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)

LUTHERAN NULL

LW BLOOD GROUP SYSTEM, LW(a)/LW(b) POLYMORPHISM

LYMPHANGIOLEIOMYOMATOSIS

Lymphangioleiomyomatosis (LAM)

LYMPHANGIOLEIOMYOMATOSIS, SOMATIC

Lymphangiomyomatosis

Lymphedema - distichiasis

LYMPHEDEMA, HEREDITARY, I

LYMPHEDEMA, HEREDITARY, IA

Lymphedema, hereditary, ic

LYMPHEDEMA, HEREDITARY, II

LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA

LYMPHEDEMA-DISTICHIASIS SYNDROME

Lymphoadenopathic mastocytosis with eosinophilia

Lymphocyte counts

Lymphocytes

Lymphoma

LYMPHOMA, HODGKIN

LYMPHOMA, NON-HODGKIN, FAMILIAL

LYMPHOMA, NON-HODGKIN, SOMATIC

Lymphoma, non-hodgkin, susceptibility to

LYMPHOMA, SOMATIC

LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO

LYMPHOPROLIFERATIVE SYNDROME 1

LYMPHOPROLIFERATIVE SYNDROME 2

LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2

Lynch syndrome

Lynch syndrome I

Lynch syndrome II

LYSINE-SPECIFIC METHYLTRANSFERASE 2A

LYSINURIC PROTEIN INTOLERANCE

Lysosomal acid lipase deficiency

Lysosomal alpha-mannosidosis (AM)

Lysosomal beta-mannosidosis (LYSBMAN)

LYSYL HYDROXYLASE 3 DEFICIENCY

LYSYL OXIDASE POLYMORPHISM

Top

M

MACHADO-JOSEPH DISEASE

Machado-Joseph disease type 1

Machado-Joseph disease type 2

Machado-Joseph disease type 3

Macrocephaly

MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS

Macrocephaly, macrosomia, facial dysmorphism syndrome

Macrocephaly, Neurodevelopmental Delay, and Seizures

Macrocephaly-autism syndrome

Macrocephaly-developmental delay syndrome

MACROCEPHALY/AUTISM SYNDROME

Macrocephaly/autism syndrome (MCEPHAS)

Macrodactyly of fingers, unilateral

Macroglobulinemia, waldenstrom, somatic

Macrothrombocytopenia and progressive sensorineural deafness

Macrothrombocytopenia with progressive sensorineural deafness (MPSD)

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED

MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE

Macrotia

MACS syndrome

Macular corneal dystrophy

Macular corneal dystrophy Type I

MACULAR CORNEAL DYSTROPHY, TYPE I

MACULAR CORNEAL DYSTROPHY, TYPE II

Macular Degeneration

MACULAR DEGENERATION, AGE-RELATED, 1

MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 10

MACULAR DEGENERATION, AGE-RELATED, 10, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 11

MACULAR DEGENERATION, AGE-RELATED, 12

MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 13

MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF

MACULAR DEGENERATION, AGE-RELATED, 15

MACULAR DEGENERATION, AGE-RELATED, 15, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 2

MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 3

MACULAR DEGENERATION, AGE-RELATED, 4

MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 5

MACULAR DEGENERATION, AGE-RELATED, 5, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 6

MACULAR DEGENERATION, AGE-RELATED, 7

MACULAR DEGENERATION, AGE-RELATED, 7, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 8

MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO

MACULAR DEGENERATION, AGE-RELATED, 9

MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO

MACULAR DEGENERATION, JUVENILE

MACULAR DEGENERATION, X-LINKED ATROPHIC

Macular dystrophy, corneal, 1

MACULAR DYSTROPHY, PATTERNED

MACULAR DYSTROPHY, RETINAL, 2

MACULAR DYSTROPHY, VITELLIFORM

Macular dystrophy, vitelliform, adult-onset

MACULOPATHY, BULL'S-EYE

MACULOPATHY, IMPG2-RELATED

Maffucci syndrome

Magnesium

Magnesium levels

Mainzer-Saldino Syndrome

MAJEED SYNDROME

MAJOR AFFECTIVE DISORDER 7

Major CVD

MAJOR DEPRESSIVE DISORDER

Major depressive disorder (broad)

MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO

MAJOR DEPRESSIVE DISORDER, RESPONSE TO CITALOPRAM THERAPY IN

Major mood disorders

MAL DE MELEDA

Malar flattening

Malaria

MALARIA, CEREBRAL, SUSCEPTIBILITY TO

MALARIA, MILD, SUSCEPTIBILITY TO

Malaria, resistance to

Malaria, severe, susceptibility to

MALARIA, SUSCEPTIBILITY TO

MALATTILEVENTINESE

MALE GERM CELL TUMOR, SOMATIC

Male hypogonadism

Male infertility

Male infertility due to globozoospermia

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Male pseudohermaphrodism with gynecomastia

Male-pattern baldness

Malformation of the heart and great vessels

Malformations of cortical development and microcephaly.

Malignant hyperthermia

Malignant hyperthermia 1

Malignant hyperthermia 5

Malignant hyperthermia susceptibility type 5

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5

Malignant lymphoma, non-Hodgkin

Malignant melanoma

Malignant melanoma of skin

MALIGNANT MELANOMA, SOMATIC

Malignant migrating partial seizures of infancy

Malignant tumor of esophagus

Malignant tumor of prostate

Malignant tumor of testis

Malignant tumor of urinary bladder

Malonic aciduria

MALONYL-CoDECARBOXYLASE DEFICIENCY

MALT lymphoma

Mammographic density

MAN1B1-CDG

MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

Mandibular hypoplasia-deafness-progeroid syndrome

Mandibular prognathia

Mandibuloacral dysostosis

Mandibuloacral dysplasia with type lipodystrophy (MADA)

MANDIBULOACRAL DYSPLASIWITH TYPE A LIPODYSTROPHY

MANDIBULOACRAL DYSPLASIWITH TYPE A LIPODYSTROPHY, ATYPICAL

MANDIBULOACRAL DYSPLASIWITH TYPE B LIPODYSTROPHY

MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY

MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDTYPE

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive

Mandibulofacial dysostosis-microcephaly syndrome

Manitoba oculotrichoanal syndrome

MANNOSE-BINDING PROTEIN DEFICIENCY

MANNOSIDOSIS, ALPHB, LYSOSOMAL

MANNOSIDOSIS, BETA, LYSOSOMAL

MANTLE CELL LYMPHOMA

MANTLE CELL LYMPHOMA, SOMATIC

Maple Syrup Urine Disease

Maple syrup urine disease 1B

Maple syrup urine disease 2

Maple syrup urine disease type 1A

Maple syrup urine disease type 2

MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB

MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE II

MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA

MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II

MAPLE SYRUP URINE DISEASE, MILD VARIANT

MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II

Maple syrup urine disease, type 3

Maple Syrup Urine Diseaseq

Marden Walker like syndrome

Marden-Walker syndrome

MARFAN SYNDROME

Marfan syndrome (MFS)

Marfan syndrome type 1

Marfan syndrome type 2

MARFAN SYNDROME, ATYPICAL

MARFAN SYNDROME, AUTOSOMAL RECESSIVE

MARFAN SYNDROME, MILD

MARFAN SYNDROME, MILD VARIABLE

MARFAN SYNDROME, NEONATAL

MARFAN SYNDROME, SEVERE CLASSIC

MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF

Marfans syndrome

Marie Unna hereditary hypotrichosis

Marie Unna hereditary hypotrichosis 1

Marinesco-Sjoegren syndrome (MSS)

MARINESCO-SJOGREN SYNDROME

Marles Greenberg Persaud syndrome

MARSHALL SYNDROME

MARSHALL-SMITH SYNDROME

MARSHALL/STICKLER SYNDROME

Martin-Probst deafness-mental retardation syndrome

Martinez-Frias syndrome

MARTSOLF SYNDROME

Martsolf syndrome (MARTS)

MASP2 DEFICIENCY

MASS SYNDROME

MASS SYNDROME/overlap connective tissue disease (OCTD)

MASSYNDROME

MAST CELL DISEASE, SYSTEMIC

MAST CELL LEUKEMIA

MAST SYNDROME

Mastocytosis with associated hematologic disorder

Mastocytosis, adult sporadic

MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET

Maternal acute fatty liver of pregnancy

Maternal hyperphenylalaninemia

Maternal uniparental disomy of chromosome 14

Maternally inherited diabetes and deafness

Maternally-inherited cardiomyopathy and hearing loss

Maternally-inherited Leigh syndrome

Maternally-inherited progressive external ophthalmoplegia

Maternally-inherited spastic paraplegia

Mathematical ability in children with dyslexia

Matrix metalloproteinase levels

Matthew-Wood syndrome

MATURITY-ONSET DIABETES OF THE YOUNG

Maturity-onset diabetes of the young 1

Maturity-onset diabetes of the young 10

Maturity-onset diabetes of the young 2

Maturity-onset diabetes of the young 7

Maturity-onset diabetes of the young, type 1

Maturity-onset diabetes of the young, type 2

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7

Maturity-onset diabetes of the young, type 8

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI

Maximal Midexpiratory Flow Rate

MAY-HEGGLIN ANOMALY

May-Hegglin anomaly (MHA)

MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

Mazabraud syndrome

MCAD DEFICIENCY

Mcad deficiency, modifier of

MCARDLE DISEASE

McCune-Albright syndrome

MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

McKusick Kaufman syndrome

MCKUSICK-KAUFMAN SYNDROME

McKusick-Kaufman syndrome (MKKS)

McLeod neuroacanthocytosis syndrome

MCLEOD SYNDROME

MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

MDR1 POLYMORPHISM

MEACHAM SYNDROME

Mean arterial pressure (alcohol consumption interaction)

Mean corpuscular hemoglobin

Mean corpuscular hemoglobin concentration

Mean corpuscular volume

Mean forced vital capacity from 2 exams

Mean platelet volume

Meckel syndrome

Meckel syndrome 5

Meckel syndrome type 1

Meckel syndrome type 1 (MKS1)

Meckel syndrome type 2

Meckel syndrome type 3

Meckel syndrome type 3 (MKS3)

Meckel syndrome type 4

Meckel syndrome type 4 (MKS4)

Meckel syndrome type 5

Meckel syndrome type 5 (MKS5)

Meckel syndrome type 7 (MKS7)

MECKEL SYNDROME, TYPE 1

MECKEL SYNDROME, TYPE 10

Meckel syndrome, type 11

MECKEL SYNDROME, TYPE 2

MECKEL SYNDROME, TYPE 3

MECKEL SYNDROME, TYPE 4

MECKEL SYNDROME, TYPE 5

MECKEL SYNDROME, TYPE 6

Meckel syndrome, type 6, modifier of

MECKEL SYNDROME, TYPE 7

MECKEL SYNDROME, TYPE 8

MECKEL SYNDROME, TYPE 9

Meckel-Gruber syndrome

Meconium Ileus

Medium chain acyl-Codehydrogenase deficiency

Medium Chain Acyl-Coenzyme Dehydrogenase Deficiency

Medium-chain acyl-coenzyme dehydrogenase deficiency

MEDNIK syndrome

MEDULLARY CYSTIC KIDNEY DISEASE 1

MEDULLARY CYSTIC KIDNEY DISEASE 2

Medullary thyroid carcinoma

Medulloblastoma

Medulloblastoma with extensive nodularity

MEDULLOBLASTOMA, SOMATIC

MEESMANN CORNEAL DYSTROPHY

Meesmans corneal dystrophy

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megaduodenum and/or megacystis

Megalencephalic leukoencephalopathy with subcortical cysts

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION

Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation

Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus

Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome

MEGALENCEPHALY, AUTOSOMAL RECESSIVE

MEGALENCEPHALY, AUTOSOMAL RECESSIVE (1 family)

Megalencephaly-capillary malformation-polymicrogyria syndrome

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;

MEGALOBLASTIC ANEMI1

MEGALOBLASTIC ANEMI1, FINNISH TYPE

MEGALOBLASTIC ANEMI1, NORWEGIAN TYPE

Megaloblastic anemia due to dihydrofolate reductase deficiency

Megaloblastic anemia due to inborn errors of metabolism

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

MEGALOCORNEA

Megalocornea, X-linked

MEGDEL syndrome

Meier-Gorlin syndrome

Meier-Gorlin syndrome 1

Meier-Gorlin syndrome 2

Meier-Gorlin syndrome 3

Meier-Gorlin syndrome 4

Meier-Gorlin syndrome 5

Melanoma

Melanoma and neural system tumor syndrome

Melanoma of soft parts

Melanoma, cutaneous malignant 2

Melanoma, cutaneous malignant 3

Melanoma, cutaneous malignant, 2, susceptibility to

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9

MELANOMA, MALIGNANT, SOMATIC

MELANOMA-ASTROCYTOMSYNDROME

Melanoma-pancreatic cancer syndrome

MELAS SYNDROME

Melioidosis, resistance to

Melnick-Fraser syndrome

MELNICK-NEEDLES SYNDROME

Melnick-Needles syndrome (MNS)

Melorheostosis (MEL)

Melorheostosis with osteopoikilosis

MELORHEOSTOSIS, ISOLATED

Memory

MEMORY IMPAIRMENT, SUSCEPTIBILITY TO

MEMORY QUANTITATIVE TRAIT LOCUS

MEN2 phenotype: Unclassified

MEN2 phenotype: Unknown

MEN2and FMTC

MEN2and Unclassified

Menarche (age at onset)

Menarche and menopause (age at onset)

Mendelian susceptibility to mycobacterial disease (MSMD)

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Meniere Disease

Meningioma

Meningioma, familial

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO

MENINGIOMA, SOMATIC

Meningococcal disease

MENKES DISEASE

Menkes kinky-hair syndrome

Menopause

Menopause (age at onset)

Mental Competency

Mental retardation

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA;

Mental retardation autosomal dominant type 2 (MRD2)

Mental retardation autosomal dominant type 3 (MRD3)

Mental retardation autosomal dominant type 4 (MRD4)

Mental retardation autosomal dominant type 5 (MRD5)

Mental retardation autosomal dominant type 7

Mental retardation autosomal recessive type 1 (MRT1)

Mental retardation autosomal recessive type 13 (MRT13)

Mental retardation autosomal recessive type 18

Mental retardation autosomal recessive type 2(MRT2A)

Mental retardation autosomal recessive type 3 (MRT3)

Mental retardation autosomal recessive type 6 (MRT6)

Mental retardation autosomal recessive type 7 (MRT7)

Mental retardation syndromic X-linked Cabezas type (MRXC)

Mental retardation syndromic X-linked Christianson type (MRXSC)

Mental retardation syndromic X-linked JARID1C-related (MRXSJ)

Mental retardation syndromic X-linked Lubs type (MRXSL)

Mental retardation syndromic X-linked Siderius type (MRXSSD)

Mental retardation syndromic X-linked Stocco dos Santos type (SDSX)

Mental retardation syndromic X-linked Turner type (MRXST)

Mental retardation syndromic X-linked type 10 (MRXS10)

Mental retardation syndromic X-linked type 13 (MRXS13)

Mental retardation syndromic X-linked type 14 (MRXS14)

Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1)

Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ)

Mental retardation with language impairment and autistic features

Mental retardation with language impairment and autistic features (MRLIAF)

Mental retardation X-linked ARX-related

Mental retardation X-linked ARX-related (MRXARX)

Mental retardation X-linked CASK-related (MRXCASK)

Mental retardation X-linked OPHN1-related (MRXSO)

Mental retardation X-linked SYP-related (MRXSYP)

Mental retardation X-linked type 1 (MRX1)

Mental retardation X-linked type 21 (MRX21)

Mental retardation X-linked type 30 (MRX30)

Mental retardation X-linked type 41 (MRX41)

Mental retardation X-linked type 44 (MRX44)

Mental retardation X-linked type 45 (MRX45)

Mental retardation X-linked type 46

Mental retardation X-linked type 48 (MRX48)

Mental retardation X-linked type 58

Mental retardation X-linked type 59 (MRX59)

Mental retardation X-linked type 63 (MRX63)

Mental retardation X-linked type 72 (MRX72)

Mental retardation X-linked type 89 (MRX89)

Mental retardation X-linked type 90 (MRX90)

Mental retardation X-linked type 91 (MRX91)

Mental retardation X-linked type 92 (MRX92)

Mental retardation X-linked type 93 (MRX93)

Mental retardation X-linked type 94 (MRX94)

Mental retardation X-linked type 95 (MRX95)

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

Mental retardation X-linked with epilepsy (MRXE)

Mental retardation X-linked with isolated growth hormone deficiency (MRXGH)

Mental retardation X-linked ZNF711-related (MRXZ)

Mental retardation, anterior maxillary protrusion, and strabismus

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;

Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome

MENTAL RETARDATION, AUTOSOMAL DOMINANT 1

MENTAL RETARDATION, AUTOSOMAL DOMINANT 10

MENTAL RETARDATION, AUTOSOMAL DOMINANT 11

Mental retardation, autosomal dominant 12

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13

MENTAL RETARDATION, AUTOSOMAL DOMINANT 14

MENTAL RETARDATION, AUTOSOMAL DOMINANT 15

MENTAL RETARDATION, AUTOSOMAL DOMINANT 16

MENTAL RETARDATION, AUTOSOMAL DOMINANT 17

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

MENTAL RETARDATION, AUTOSOMAL DOMINANT 19

MENTAL RETARDATION, AUTOSOMAL DOMINANT 2

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 22

Mental retardation, autosomal dominant 23

Mental retardation, autosomal dominant 24

MENTAL RETARDATION, AUTOSOMAL DOMINANT 3

MENTAL RETARDATION, AUTOSOMAL DOMINANT 4

Mental retardation, autosomal dominant 5

Mental retardation, autosomal dominant 6

MENTAL RETARDATION, AUTOSOMAL DOMINANT 7

MENTAL RETARDATION, AUTOSOMAL DOMINANT 8

Mental retardation, autosomal dominant 9

MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37

Mental retardation, autosomal recessive 38

Mental retardation, autosomal recessive 39

Mental retardation, autosomal recessive 40

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7

MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY,

Mental retardation, FRA12type

Mental retardation, non-syndromic

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS

MENTAL RETARDATION, X-LINKED 1

MENTAL RETARDATION, X-LINKED 17

MENTAL RETARDATION, X-LINKED 18

MENTAL RETARDATION, X-LINKED 19

MENTAL RETARDATION, X-LINKED 21

MENTAL RETARDATION, X-LINKED 3

MENTAL RETARDATION, X-LINKED 30

MENTAL RETARDATION, X-LINKED 41

MENTAL RETARDATION, X-LINKED 45

MENTAL RETARDATION, X-LINKED 45 (1 family)

MENTAL RETARDATION, X-LINKED 46

MENTAL RETARDATION, X-LINKED 58

MENTAL RETARDATION, X-LINKED 59

MENTAL RETARDATION, X-LINKED 63

MENTAL RETARDATION, X-LINKED 72

MENTAL RETARDATION, X-LINKED 9

MENTAL RETARDATION, X-LINKED 90

MENTAL RETARDATION, X-LINKED 91

MENTAL RETARDATION, X-LINKED 93

MENTAL RETARDATION, X-LINKED 96

MENTAL RETARDATION, X-LINKED 97

Mental retardation, X-linked 98

Mental retardation, X-linked 99

Mental retardation, X-linked, ARX-related

MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

Mental retardation, X-linked, nonspecific

MENTAL RETARDATION, X-LINKED, SYNDROMIC 10

MENTAL RETARDATION, X-LINKED, SYNDROMIC 13

MENTAL RETARDATION, X-LINKED, SYNDROMIC 14

MENTAL RETARDATION, X-LINKED, SYNDROMIC 16

MENTAL RETARDATION, X-LINKED, SYNDROMIC 32

MENTAL RETARDATION, X-LINKED, SYNDROMIC 5

Mental retardation, X-linked, syndromic, 13

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERTYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERTYPE (1 family)

MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE

MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE

MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIAND DISTINCTIVE

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED;

MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM

MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND

MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT

Mental retardation-anterior maxillary protrusion-strabismus (MRAMS)

Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA)

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1

Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL)

Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME)

Mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS)

MEPHENYTOIN, POOR METABOLISM OF

MERCAPTOLACTATE-CYSTEINE DISULFIDURIA

Meretoja syndrome

Merff syndrome

Merkel cell carcinoma

Merosin deficient congenital muscular dystrophy

MERRF

MERRF SYNDROME

MERRF/MELAS overlap syndrome

Mesial temporal lobe epilepsy with hippocampal sclerosis

Mesomelia-synostoses syndrome

Mesothelioma

MESOTHELIOMA, MALIGNANT

MESOTHELIOMA, SOMATIC

Metabolic myopathy due to lactate transporter defect

Metabolic syndrome

Metabolic syndrome (bivariate traits)

METABOLIC SYNDROME, PROTECTION AGAINST

Metabolic syndrome, susceptibility to

Metabolic traits

Metabolism

Metabolite levels

Metabolite levels (X-11787)

Metabolite levels (5-HIAA)

Metabolite levels (5-HIAA/ MHPG Ratio)

Metabolite levels (Dihydroxy docosatrienoic acid)

Metabolite levels (HVA)

Metabolite levels (HVA-5-HIAFactor score)

Metabolite levels (HVA/5-HIAratio)

Metabolite levels (HVA/MHPG ratio)

Metabolite levels (MHPG)

Metabolite levels (Pyroglutamine)

METACARPAL 4-5 FUSION

Metachondromatosis

METACHROMATIC LEUKODYSTROPHY

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

METACHROMATIC LEUKODYSTROPHY, ADULT

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, adult type

METACHROMATIC LEUKODYSTROPHY, JUVENILE

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, juvenile type

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE

Metachromatic leukodystrophy, late infantile form

METACHROMATIC LEUKODYSTROPHY, LATE-ONSET

METACHROMATIC LEUKODYSTROPHY, MILD

METACHROMATIC LEUKODYSTROPHY, SEVERE

METAPHYSEAL ANADYSPLASI1, AUTOSOMAL DOMINANT

METAPHYSEAL ANADYSPLASI1, AUTOSOMAL RECESSIVE

METAPHYSEAL ANADYSPLASI2

METAPHYSEAL ANADYSPLASI2, AUTOSOMAL RECESSIVE

Metaphyseal anadysplasia

Metaphyseal anadysplasia type 1 (MANDP1)

Metaphyseal chondrodysplasia, Jansen type

Metaphyseal chondrodysplasia, McKusick type

METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

Metaphyseal chondrodysplasia, Spahr type

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

Metaphyseal dysplasia without hypotrichosis

METAPHYSEAL DYSPLASIWITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY;

Metastatic melanoma sample

Metatrophic dysplasia

METATROPIC DYSPLASIA

Methamphetamine dependence

Methemoglobinemia CYB5R3-related

Methemoglobinemia type 2

METHEMOGLOBINEMIA, TYPE I

METHEMOGLOBINEMIA, TYPE II

METHEMOGLOBINEMIDUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

METHEMOGLOBINEMITYPE IV

Methionine adenosyltransferase deficiency

METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT

METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE

Methotrexate clearance (acute lymphoblastic leukemia)

Methotrexate phramacokinetics (acute lymphoblastic leukemia)

Methotrexate poisoning

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylcobalamin deficiency type G (cblG)

METHYLCOBALAMIN DEFICIENCY, cblG TYPE

Methylcrotonoyl-Cocarboxylase 2 deficiency

Methylenetetrahydrofolate reductase deficiency

Methylenetetrahydrofolate reductase deficiency (MTHFRD)

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Methylmalonic acidemia due to methylmalonyl-Coepimerase deficiency

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria cblD

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblF

Methylmalonic acidemia with homocystinuria, type cblJ

Methylmalonic acidemia with homocystinuria, type cblX

METHYLMALONIC ACIDEMIAND HOMOCYSTEINEMIA, cblX TYPE

Methylmalonic aciduria and homocystinuria type cblC

Methylmalonic aciduria and homocystinuria type cblD (MMADHC)

Methylmalonic aciduria and homocystinuria type cblF

Methylmalonic aciduria and homocystinuria type cblJ

Methylmalonic aciduria cblB type

Methylmalonic aciduria cbltype

Methylmalonic aciduria type cblA

Methylmalonic aciduria type cblB

Methylmalonic aciduria type mut

METHYLMALONIC ACIDURIA, cblB TYPE

METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2

METHYLMALONIC ACIDURIA, cblTYPE

METHYLMALONIC ACIDURIA, mut(-) TYPE

METHYLMALONIC ACIDURIA, mut(0) TYPE

METHYLMALONIC ACIDURIAND HOMOCYSTINURIA, cblC TYPE

METHYLMALONIC ACIDURIAND HOMOCYSTINURIA, cblD TYPE

METHYLMALONIC ACIDURIAND HOMOCYSTINURIA, cblF TYPE

METHYLMALONIC ACIDURIAND HOMOCYSTINURIA, cblJ TYPE

METHYLMALONIC ACIDURIDUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

METHYLMALONIC ACIDURIDUE TO TRANSCOBALAMIN RECEPTOR DEFECT

METHYLMALONYL-CoEPIMERASE DEFICIENCY

MEVALONIC ACIDURIA

MFSD8-Related Neuronal Ceroid-Lipofuscinosis

MGAT2-CDG syndrome

Michels syndrome

Micrencephaly - corpus callosum agenesis - abnormal genitalia

Micro syndrome

Microcephalic osteodysplastic primordial dwarfism type 2

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Alazami type

Microcephalic primordial dwarfism, Dauber type

Microcephaly - lymphedema - chorioretinopathy

Microcephaly - polymicrogyria - corpus callosum agenesis

Microcephaly - seizures - developmental delay

MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL

MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE

MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE

Microcephaly and chorioretinopathy with or without mental retardation

MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,

Microcephaly capillary malformation (MIC-CAP) syndrome

Microcephaly cortical malformations and mental retardation (MCMMR)

Microcephaly primary type 1 (MCPH1)

Microcephaly primary type 4 (MCPH4)

Microcephaly primary type 6 (MCPH6)

Microcephaly primary type 7

Microcephaly with chorioretinopathy, autosomal recessive

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

MICROCEPHALY, AMISH TYPE

MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME

Microcephaly, normal intelligence and immunodeficiency

Microcephaly, postnatal progressive, with seizures and brain atrophy

Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy

Microcephaly-capillary malformation syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microcornea

Microcornea, myopic chorioretinal atrophy, and telecanthus

MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

Microcystic corneal dystrophy

Microcytic anemia

Microcytic anemia with liver iron overload

Microform holoprosencephaly

Micrognathia

Microlissencephaly

MICROPENIS

Microphthalmia - cataract

Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen

Microphthalmia and Diaphragmatic Hernia

Microphthalmia isolated type 2

Microphthalmia isolated type 3 (MCOP3)

Microphthalmia isolated type 4 (MCOP4)

Microphthalmia isolated type 5 (MCOP5)

Microphthalmia isolated type 6 (MCOP6)

Microphthalmia isolated type 7 (MCOP7)

Microphthalmia isolated with cataract type 4 (MCOPCT4)

Microphthalmia isolated with coloboma type 3

Microphthalmia isolated with coloboma type 5

Microphthalmia isolated with coloboma type 6 (MCOPCB6)

Microphthalmia syndromic 3

Microphthalmia syndromic 5

Microphthalmia syndromic 6

Microphthalmia syndromic 7

Microphthalmia syndromic 9

Microphthalmia syndromic type 2 (MCOPS2)

Microphthalmia syndromic type 3 (MCOPS3)

Microphthalmia syndromic type 5 (MCOPS5)

Microphthalmia syndromic type 7 (MCOPS7)

Microphthalmia syndromic type 8 (MCOPS8)

Microphthalmia syndromic type 9 (MCOPS9)

Microphthalmia with brain and digit anomalies

Microphthalmia with cataracts and iris abnormalities (MCOPCTI)

Microphthalmia with Linear Skin Lesions

MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES

MICROPHTHALMIA, ISOLATED 2

MICROPHTHALMIA, ISOLATED 3

MICROPHTHALMIA, ISOLATED 4

MICROPHTHALMIA, ISOLATED 5

MICROPHTHALMIA, ISOLATED 6

MICROPHTHALMIA, ISOLATED 7

MICROPHTHALMIA, ISOLATED 8

Microphthalmia, isolated, 4

MICROPHTHALMIA, ISOLATED, WITH CATARACT 2

MICROPHTHALMIA, ISOLATED, WITH COLOBOM3

MICROPHTHALMIA, ISOLATED, WITH COLOBOM5

MICROPHTHALMIA, ISOLATED, WITH COLOBOM6

MICROPHTHALMIA, ISOLATED, WITH COLOBOM9

Microphthalmia, isolated, with coloboma 7

Microphthalmia, isolated, with coloboma 8

Microphthalmia, isolated, with coloboma, 6

Microphthalmia, Lenz type

MICROPHTHALMIA, SYNDROMIC 11

Microphthalmia, syndromic 12

MICROPHTHALMIA, SYNDROMIC 14

MICROPHTHALMIA, SYNDROMIC 2

MICROPHTHALMIA, SYNDROMIC 3

MICROPHTHALMIA, SYNDROMIC 5

MICROPHTHALMIA, SYNDROMIC 6

MICROPHTHALMIA, SYNDROMIC 7

MICROPHTHALMIA, SYNDROMIC 8

MICROPHTHALMIA, SYNDROMIC 9

Microphthalmia, syndromic, 7

Microphthalmia, syndromic, 9

MICROPHTHALMIWITH LIMB ANOMALIES

Microphthalmos

Microspherophakia

Microspherophakia (MCSPH)

MICROSPHEROPHAKIAND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH

Microtia

MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE

MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (1 family)

Microvascular complications of diabetes 1

Microvascular complications of diabetes 2

Microvascular complications of diabetes 3

Microvascular complications of diabetes 5

Microvascular complications of diabetes 6

Microvascular complications of diabetes 7

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7

Microvillous inclusion disease

MICROVILLUS INCLUSION DISEASE

MIDAS syndromeMicrophthalmia with linear skin defects syndrome

Midline interhemispheric variant of holoprosencephaly

Migraine

Migraine - clinic-based

Migraine with aura

Migraine without aura

MIGRAINE, FAMILIAL BASILAR

MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA

MIGRAINE, FAMILIAL HEMIPLEGIC, 1

MIGRAINE, FAMILIAL HEMIPLEGIC, 2

MIGRAINE, FAMILIAL HEMIPLEGIC, 3

Migraine, sporadic hemiplegic

Migraine, sporadic hemiplegic, with progressive cerebellar ataxia

MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13

Mild Canavan disease

Mild hemophilia A

Mild hemophilia B

Mild hyperphenylalaninemia

Mild non-PKU hyperphenylalanemia

Mild phenylketonuria

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Miller syndrome

MILLER-DIEKER LISSENCEPHALY SYNDROME

Miller-Dieker syndrome

Milroy Disease

MINERALOCORTICOID DEFICIENCY, ISOLATED

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Minimal pigment oculocutaneous albinism type 1

Minimally differentiated acute myeloblastic leukemia

MIRROR MOVEMENTS 1

MIRROR MOVEMENTS 2

MISMATCH REPAIR CANCER SYNDROME

Mismatch repair deficient cancer cells

Mitchell-Riley syndrome

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Mitochondrial 3-hydroxy-3-methylglutaryl-Cosynthase deficiency

MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX II DEFICIENCY

MITOCHONDRIAL COMPLEX III DEFICIENCY

Mitochondrial complex III deficiency, nuclear 4

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

MITOCHONDRIAL COMPLEX IV DEFICIENCY

MITOCHONDRIAL COMPLEX IV DEFICIENCY (1 family)

Mitochondrial complex IV deficiency (MT-C4D)

MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2;

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3;

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4;

Mitochondrial cytochrome c oxidase deficiency

Mitochondrial diseases

Mitochondrial DNA-depletion syndrome 3, hepatocerebral

Mitochondrial DNdeletion syndrome with progressive myopathy

MITOCHONDRIAL DNDEPLETION SYNDROME 1 (MNGIE TYPE)

MITOCHONDRIAL DNDEPLETION SYNDROME 11

Mitochondrial DNdepletion syndrome 12 (cardiomyopathic type)

Mitochondrial DNdepletion syndrome 13 (encephalomyopathic type)

MITOCHONDRIAL DNDEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE);

Mitochondrial DNdepletion syndrome 2

MITOCHONDRIAL DNDEPLETION SYNDROME 2 (MYOPATHIC TYPE)

MITOCHONDRIAL DNDEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)

Mitochondrial DNdepletion syndrome 4A

MITOCHONDRIAL DNDEPLETION SYNDROME 4A (ALPERS TYPE)

Mitochondrial DNdepletion syndrome 4B

MITOCHONDRIAL DNDEPLETION SYNDROME 4B (MNGIE TYPE)

Mitochondrial DNdepletion syndrome 4B, MNGIE type

MITOCHONDRIAL DNDEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

MITOCHONDRIAL DNDEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR

Mitochondrial DNdepletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

MITOCHONDRIAL DNDEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)

MITOCHONDRIAL DNDEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)

Mitochondrial DNdepletion syndrome 8A

MITOCHONDRIAL DNDEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH

MITOCHONDRIAL DNDEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)

Mitochondrial DNdepletion syndrome 8B (MNGIE type)

MITOCHONDRIAL DNDEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH

Mitochondrial DNdepletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)

Mitochondrial DNdepletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial DNdepletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNdepletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNdepletion syndrome, encephalomyopathic form, with renal tubulopathy

Mitochondrial DNdepletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNdepletion syndrome, hepatocerebrorenal form

Mitochondrial DNDepletion Syndrome, Myopathic Form

Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency

Mitochondrial encephalomyopathy

MITOCHONDRIAL HMG-CoSYNTHASE DEFICIENCY

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Mitochondrial myopathy

Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE

Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency

Mitochondrial myopathy, isolated

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial non-syndromic sensorineural deafness

Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY

Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD

MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-Related

Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related

Mitochondrial trifunctional protein deficiency

MIYOSHI MUSCULAR DYSTROPHY 1

MIYOSHI MUSCULAR DYSTROPHY 3

Miyoshi muscular dystrophy type 3 (MMD3)

MIYOSHI MYOPATHY

MMEP syndrome

Mo ALLOANTIGEN POLYMORPHISM

Moderate multiminicore disease with hand involvement

Moderate Sensorineural Hearing Loss

Moderately severe hemophilia A

Moderately severe hemophilia B

MODY syndrome

Mohr-Majewski Syndrome

MOHR-TRANEBJAERG SYNDROME

Molar-incisor hypomineralization

Molybdenum Cofactor Deficiency

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B

Molybdenum cofactor deficiency, complementation group C

MONILETHRIX

MONILETHRIX (1 patient)

MONOAMINE OXIDASE A

Monoamine oxidase deficiency

Monocyte and dendritic cell deficiency, autosomal recessive

Monocyte chemoattractant protein 1 (66-77) [Supplementary Concept]

Monocyte chemoattractant protein-1

Monocyte count

Monocyte early outgrowth colony forming units

Monocytes

Monocytopenia with susceptibility to infections

Monomelic amyotrophy

MONONEUROPATHY OF THE MEDIAN NERVE, MILD

Monosomy 13q14

Monosomy 22q13

Monosomy 5p

Monosomy 9q22.3

Monostotic fibrous dysplasia

Morbid obesity

Morbidity-free survival

MORM syndrome

MORNING GLORY DISC ANOMALY

Morning glory syndrome

Mortality

Mortality in heart failure

Mosaic variegated aneuploidy syndrome

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

Mosaic variegated aneuploidy syndrome 2

Motor retardation

MOWAT-WILSON SYNDROME

Mowat-Wilson syndrome (MWIS)

Mowat-Wilson syndrome due to a point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Moyamoya disease

Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism

Moyamoya disease 5

MOYAMOYDISEASE 2

MPDU1-CDG syndrome

MPI-CDG syndrome

MRCS syndrome

MRI atrophy measures

MRX with/without nystagmus

MSH2 POLYMORPHISM

MTHFR deficiency, thermolabile type

MTHFR THERMOLABILE POLYMORPHISM

MUCKLE-WELLS SYNDROME

Mucocutaneous venous malformations

MUCOLIPIDOSIS II ALPHA/BETA

MUCOLIPIDOSIS III ALPHA/BETA

MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL

MUCOLIPIDOSIS III GAMMA

MUCOLIPIDOSIS IV

Mucolipidosis type 2

Mucolipidosis type 3

Mucolipidosis type 4

Mucolipidosis type II (MLII)

Mucolipidosis type III complementation group (MLIIIA)

Mucolipidosis type III complementation group A

Mucolipidosis type III complementation group C (MLIIIC)

Mucopolysaccharidosis 1H

Mucopolysaccharidosis 2

Mucopolysaccharidosis 3A

Mucopolysaccharidosis 3B

Mucopolysaccharidosis 4A

Mucopolysaccharidosis 6

Mucopolysaccharidosis 7

Mucopolysaccharidosis type 1H (MPS1H)

Mucopolysaccharidosis type 1H/S (MPS1H/S)

Mucopolysaccharidosis type 1S (MPS1S)

Mucopolysaccharidosis type 2 (MPS2)

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 3(MPS3A)

Mucopolysaccharidosis type 3B (MPS3B)

Mucopolysaccharidosis type 3C (MPS3C)

Mucopolysaccharidosis type 3D (MPS3D)

Mucopolysaccharidosis type 4(MPS4A)

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 4B (MPS4B)

Mucopolysaccharidosis type 6 (MPS6)

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Mucopolysaccharidosis type 7

Mucopolysaccharidosis type 7 (MPS7)

Mucopolysaccharidosis type 9 (MPS9)

MUCOPOLYSACCHARIDOSIS TYPE IVA

MUCOPOLYSACCHARIDOSIS TYPE IVB

MUCOPOLYSACCHARIDOSIS TYPE VI

MUCOPOLYSACCHARIDOSIS TYPE VII

Mucopolysaccharidosis, MPS-I-H/S

Mucopolysaccharidosis, MPS-I-S

Mucopolysaccharidosis, MPS-II

Mucopolysaccharidosis, MPS-III-A

Mucopolysaccharidosis, MPS-III-B

Mucopolysaccharidosis, MPS-III-C

Mucopolysaccharidosis, MPS-III-D

Mucopolysaccharidosis, MPS-IV-A

Mucopolysaccharidosis, MPS-IV-B

MUCOPOLYSACCHARIDOSIS, TYPE II

MUCOPOLYSACCHARIDOSIS, TYPE II, MILD FORM

MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM

MUCOPOLYSACCHARIDOSIS, TYPE IIIA

MUCOPOLYSACCHARIDOSIS, TYPE IIIB

MUCOPOLYSACCHARIDOSIS, TYPE IIIC

MUCOPOLYSACCHARIDOSIS, TYPE IIID

MUCOPOLYSACCHARIDOSIS, TYPE IVA

MUCOPOLYSACCHARIDOSIS, TYPE IVB

MUCOPOLYSACCHARIDOSIS, TYPE IX

MUCOPOLYSACCHARIDOSIS, TYPE VI

MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE

MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD

MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE

MUCOPOLYSACCHARIDOSIS, TYPE VII

Mucosa-associated lymphoma

MUENKE SYNDROME

Muenke syndrome (MNKS)

MUIR-TORRE SYNDROME

MULIBREY NANISM

Mulibrey nanism syndrome

MULLERIAN APLASIAND HYPERANDROGENISM

Multibacillary leprosy

Multicentric carpo-tarsal osteolysis with or without nephropathy

MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME

Multicentric osteolysis nephropathy

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

Multicystic kidney dysplasia

MULTIPLE ACYL-CoDEHYDROGENASE DEFICIENCY

Multiple acyl-Codehydrogenation deficiency, mild type

Multiple acyl-Codehydrogenation deficiency, severe neonatal type

Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)

Multiple congenital anomalies - hypotonia - seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Multiple congenital exostosis

Multiple Cutaneous and Mucosal Venous Malformations

Multiple endocrine neoplasia IIB

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia type 4

Multiple endocrine neoplasia, type 1

Multiple endocrine neoplasia, type 2

Multiple endocrine neoplasia, type 2a

Multiple endocrine neoplasia, type 2b

Multiple endocrine neoplasia, type 4

MULTIPLE ENDOCRINE NEOPLASIA, TYPE I

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV

Multiple epiphyseal dysplasia 1

Multiple epiphyseal dysplasia 4

Multiple epiphyseal dysplasia 5

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 1 (EDM1)

Multiple epiphyseal dysplasia type 2 (EDM2)

Multiple epiphyseal dysplasia type 3 (EDM3)

Multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia type 4 (EDM4)

Multiple epiphyseal dysplasia type 5

Multiple epiphyseal dysplasia type 5 (EDM5)

Multiple epiphyseal dysplasia type 6 (EDM6)

Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia, Beighton type

Multiple Epiphyseal Dysplasia, Dominant

Multiple exostoses type 2

Multiple fibroadenoma of the breast

MULTIPLE FIBROADENOMAS OF THE BREAST

Multiple fibrofolliculomas

Multiple gastrointestinal stromal tumors

Multiple intestinal atresia

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

Multiple keratoacanthoma, Ferguson-Smith type

Multiple mitochondrial dysfunctions syndrome 1

Multiple mitochondrial dysfunctions syndrome 2

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3

Multiple myeloma

Multiple myeloma (hyperdiploidy)

Multiple myeloma (IgH translocation)

MULTIPLE MYELOMA, RESISTANCE TO

Multiple myeloma, translocation 11,14 type

Multiple neoplasia 2A

Multiple neoplasia 2B

Multiple osteochondromas

Multiple paragangliomas associated with polycythemia

Multiple pterygium syndrome Escobar type

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

Multiple sclerosis

Multiple sclerosis (age of onset)

Multiple sclerosis (OCB status)

Multiple sclerosis (severity)

Multiple sclerosis modifier of disease progression

Multiple sclerosis or amyotrophic lateral sclerosis

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5

Multiple sclerosis--Brain Glutamate Levels

Multiple self healing squamous epithelioma

MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO

MULTIPLE SULFATASE DEFICIENCY

Multiple synostoses syndrome

MULTIPLE SYNOSTOSES SYNDROME 1

MULTIPLE SYNOSTOSES SYNDROME 2

MULTIPLE SYNOSTOSES SYNDROME 3

Multiple synostoses syndrome type 1 (SYNS1)

Multiple synostoses syndrome type 2 (SYNS2)

Multiple synostoses syndrome type 3

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO

Multiple system atrophy, cerebellar type

Multiple system atrophy, parkinsonian type

Multisystem disorder

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

MURCS association

Muscle AMP deaminase deficiency

Muscle eye brain disease

Muscle filaminopathy

MUSCLE HYPERTROPHY

Muscle stiffness, painful

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Muscular dystrophy congenital LMNA-related

Muscular dystrophy congenital LMNA-related (MDCL)

MUSCULAR DYSTROPHY, BECKER TYPE

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY

MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

Muscular dystrophy, congenital, megaconial type

MUSCULAR DYSTROPHY, DUCHENNE TYPE

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F

Muscular dystrophy, limb-girdle, type 2f, digenic

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L

Muscular dystrophy, limb-girdle, type 2Q

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R (1 family)

Muscular dystrophy, limb-girdle, type 2S

Muscular dystrophy, Selcen type

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1)

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2)

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4)

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5)

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6)

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1

Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 (MDDGB1)

Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B2 (MDDGB2)

Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 (MDDGB3)

Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B6 (MDDGB6)

Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5

Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5)

Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4)

Muscular dystrophy-dystroglycanopathy limb-girdle C3

Muscular dystrophy-dystroglycanopathy limb-girdle C5

Muscular dystrophy-dystroglycanopathy limb-girdle type C1 (MDDGC1)

Muscular dystrophy-dystroglycanopathy limb-girdle type C2 (MDDGC2)

Muscular dystrophy-dystroglycanopathy limb-girdle type C3 (MDDGC3)

Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)

Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5)

Muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7)

Muscular hypotonia

Musician's dystonia

Mutilating keratoderma

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

MUTYH-related attenuated familial adenomatous polyposis

Myasthenia gravis

MYASTHENIA, LIMB-GIRDLE, FAMILIAL

Myasthenia, limb-girdle, with tubular aggregates

MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA

MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL

MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL

MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS

MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1

MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2

Myasthenic syndrome, congenital, with tubular aggregates, 1

MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL

MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL, AUTOSOMAL RECESSIVE

MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

MYCOBACTERIAL AND SALMONELLINFECTIONS, SUSCEPTIBILITY TO

MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE

MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1

MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO

Mycobacteriosis atypical X-linked 2

Mycobacterium tuberculosis, protection against

MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

Mycobacterium tuberculosis, susceptibility to infection by

MYD88 DEFICIENCY

Myelodysplasia

MYELODYSPLASTIC SYNDROME

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Myelodysplastic syndromes

MYELOFIBROSIS

Myelofibrosis with myeloid metaplasia

Myeloid neoplasm associated with FGFR1 rearrangement

Myeloid neoplasm associated with PDGFRB rearrangement

Myeloid neoplasm associated with PDGFRrearrangement

Myelokathexis, isolated

MYELOMA, MULTIPLE

Myelomeningocele

MYELOPEROXIDASE DEFICIENCY

MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA

Myeloproliferative neoplasms

MYH-associated polyposis

MYH9 related disorders

MYH9-related disease

Myhre syndrome

Myocardial infarction

Myocardial infarction (early onset)

Myocardial infarction 1

MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO

MYOCARDIAL INFARCTION, PROTECTION AGAINST

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1

Myoclonic dystonia

Myoclonic encephalopathy

Myoclonic epilepsy myopathy sensory ataxia

MYOCLONIC EPILEPSY OF LAFORA

MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG

MYOCLONIC EPILEPSY, FAMILIAL INFANTILE

Myoclonic epilepsy, infantile, familial

Myoclonic epilepsy, juvenile 1

MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1

Myoclonic-astastic epilepsy

Myoclonus with epilepsy with ragged red fibers

MYOCLONUS, FAMILIAL CORTICAL

MYOCLONUS-DYSTONISYNDROME

Myofibrillar myopathy 1

Myofibrillar myopathy, BAG3-related

Myofibrillar myopathy, filamin C-related

Myofibrillar myopathy, ZASP-related

Myofibromatosis, infantile 1

MYOFIBROMATOSIS, INFANTILE, 1

MYOFIBROMATOSIS, INFANTILE, 2

MYOFIBROMATOSIS, INFANTILE, 2 (1 family)

Myoglobinuria

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Myoglobinuria, recurrent

MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE

MYOKYMI1

MYOKYMI1 WITH HYPOMAGNESEMIA

Myokymia isolated 1

Myoneural gastrointestinal encephalopathy syndrome

Myopathic intestinal pseudoobstruction

Myopathy

Myopathy and diabetes mellitus

MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY

Myopathy myofibrillar type 4 (MFM4)

Myopathy with extrapyramidal signs

MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY

Myopathy with tubular aggregates

MYOPATHY, ACTIN, CONGENITAL, WITH CORES

MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant

MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET;

MYOPATHY, CENTRONUCLEAR, 1

MYOPATHY, CENTRONUCLEAR, 2

MYOPATHY, CENTRONUCLEAR, 3

MYOPATHY, CENTRONUCLEAR, 4

MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF

MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE

MYOPATHY, CENTRONUCLEAR, X-LINKED

MYOPATHY, CONGENITAL, COMPTON-NORTH

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

MYOPATHY, DISTAL, 1

MYOPATHY, DISTAL, 2

MYOPATHY, DISTAL, 4

MYOPATHY, DISTAL, TATEYAMTYPE

MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET

Myopathy, early-onset, areflexia, respiratory distress, and dysphagia

Myopathy, early-onset, with fatal cardiomyopathy

MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMI1

MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMI2

MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING

MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY

Myopathy, mitochondrial, late-onset

Myopathy, mitochondrial, with diabetes mellitus

MYOPATHY, MYOFBRILLAR, 3

MYOPATHY, MYOFIBRILLAR, 1

Myopathy, myofibrillar, 2

MYOPATHY, MYOFIBRILLAR, 3

MYOPATHY, MYOFIBRILLAR, 4

MYOPATHY, MYOFIBRILLAR, 5

Myopathy, myofibrillar, 6

MYOPATHY, MYOFIBRILLAR, BAG3-RELATED

Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related

MYOPATHY, MYOSIN STORAGE

MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET

MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE

MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET

MYOPATHY, SPHEROID BODY

MYOPATHY, TUBULAR AGGREGATE

MYOPATHY, VARIABLE

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY

MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY

MYOPI21, AUTOSOMAL DOMINANT

MYOPI22, AUTOSOMAL DOMINANT

Myopia

Myopia (pathological)

Myopia (severe)

Myopia 23, autosomal recessive

Myopia 6

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

Myosclerosis

MYOSCLEROSIS, AUTOSOMAL RECESSIVE

Myositis, eosinophilic

Myostatin-related muscle hypertrophy

MYOTILINOPATHY

Myotonia congenita

MYOTONIA, POTASSIUM-AGGRAVATED

MYOTONIC DYSTROPHY 1

MYOTONIC DYSTROPHY 2

Myotonic dystrophy-like myopathy

MYOTONICONGENITA, ATYPICAL

MYOTO