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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

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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

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

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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

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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

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6

6-pyruvoyl-tetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

608649

613641

6q terminal deletion syndrome

6q16 deletion syndrome

6q25 microdeletion syndrome

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7

7q31 microdeletion syndrome

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8

8p11.2 deletion syndrome

8p23.1 microdeletion syndrome

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9

9q subtelomeric deletion syndrome (9q- syndrome)

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A

Aarskog syndrome

AARSKOG-SCOTT SYNDROME

Aarskog-Scott syndrome (AAS)

Aase syndrome

AB1-42

ABCB11-Related Intrahepatic Cholestasis

ABCC9-Related Dilated Cardiomyopathy

ABCD SYNDROME

Abdominal aortic aneurysm

Abdominal Fat

ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND

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 idiopathic sideroblastic anemia

ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO

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)

Acth-independent macronodular adrenal hyperplasia, somatic

ACTININ, ALPHA-3

ACTININ, ALPHA-3 POLYMORPHISM

Action myoclonus - renal failure syndrome

Activated partial thromboplastin time

Activated PI3K-delta syndrome

Activated PI3K-Delta Syndrome (APDS)

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 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

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, response to tyrosine kinase inhibitor in, somatic

Adenocarcinoma of ovary

ADENOCARCINOMA, COLONIC, SOMATIC

ADENOCARCINOMOF LUNG, SOMATIC

Adenoma, cortisol-producing

Adenoma, periampullary, somatic

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 adenoma, somatic

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-Goutirres 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, 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 (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

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-THALASSEMIMYELODYSPLASIA SYNDROME, SOMATIC

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 Levels

AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWTYPE

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

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;

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 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 (toluene diisocyanate-induced)

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, 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 with atrioventricular conduction defects, somatic

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 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

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 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 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 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

Beare-Stevenson syndrome-like anomalies

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 (mania)

Bipolar disorder (mood-incongruent)

Bipolar disorder and major depressive disorder (combined)

Bipolar disorder and schizophrenia

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, somatic

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 (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, FAMILIAL

BONE MARROW FAILURE, TELOMERE-RELATED, 1

Bone mineral density

Bone mineral density (hip)

Bone mineral density (spine)

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

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 (male)

Breast cancer (menopausal hormone therapy interaction)

Breast cancer (prognosis)

Breast cancer (survival)

Breast Cancer in BRCA1 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

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, 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, SOMATIC, MOSAIC

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 colon

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 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 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-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

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 cancer, somatic

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

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 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, CONGENITAL HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS

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 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 progressive external ophthalmoplegia with myopathy, somatic

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, 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 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

Colobomatous microphthalmia

COLOBOMOF OPTIC NERVE

COLON CANCER

Colon cancer sample

COLON CANCER, ADVANCED

COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

Colon cancer, hereditary nonpolyposis, type 6, somatic

COLON CANCER, SOMATIC

COLON CANCER, SUSCEPTIBILITY TO

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 (case status)

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 cl