C0000768

Congenital Abnormality

SLC31A1, FMR1, FOLR1, NOTCH1, KLF4

C0001126

Renal Tubular Acidosis

SLC4A4

C0001193

Apert Syndrome

FGFR2

C0001197

Acrodermatitis

SLC39A4

C0001627

Congenital Adrenal Hyperplasia

CYP17A1, CYP21A2, HSD3B2, AVPR2, PRKAR1A, PDE8B

C0001733

Afibrinogenemia

FGA, FGB, CFI

C0002066

Alkaptonuria

HGD

C0002312

Alpha-Thalassemia

HBA1, HBB

C0002452

Amelogenesis Imperfecta

FAM83H, LTBP3

C0002514

Amino Acid Metabolism, Inborn Errors

AHCY, GCLC, ALDH6A1, EIF2AK4, PRODH, XPC, SECISBP2, SLC7A7

C0002768

Congenital Pain Insensitivity

NGF, NTRK1, SCN9A

C0002882

Anemia, Hemolytic, Congenital Nonspherocytic

G6PD, TPI1

C0002895

Anemia, Sickle Cell

DHODH, HBB, HP, NPPB, BCL11A, TNF, UMPS, VCAM1, CAD, NPRL3

C0002902

Anencephaly

MTHFR

C0003076

Aniridia

ELP4

C0003466

Anus, Imperforate

PCSK5

C0003706

Arachnodactyly

FBN1, FZD4

C0003803

Arnold Chiari Malformation

ERF

C0003857

Congenital Arteriovenous Malformation

RASA1

C0003868

Arthritis, Gouty

POMC

C0004045

Asphyxia Neonatorum

PSEN1, PSEN2, PTGS2, SOD2

C0004779

Basal Cell Nevus Syndrome

GLI2, SUFU, PTCH1

C0004903

Beckwith-Wiedemann Syndrome

CDKN1C, KCNQ1OT1, H19, IGF2

C0004943

Behcet Syndrome

HLA-B, APOA1, APOB, ICAM1, CXCL8, IL10, IL12A, ITGB2, SERPINE1, ERAP1, TLR4, C4A, KLRC4

C0005129

Bernard-Soulier Syndrome

GP1BB

C0005283

Beta Thalassemia

DHODH, HBB, LCN2, HAMP, TFR2, TFRC, UMPS, CAD

C0005411

Biliary Atresia

GPC1, HAMP

C0005859

Bloom Syndrome

BLM, UNG

C0006287

Bronchopulmonary Dysplasia

POSTN, STXBP5, IL1B, TXN

C0007001

Carbohydrate Metabolism, Inborn Errors

PRKAG3

C0007772

Intracranial Arteriovenous Malformation

IL6

C0007959

Charcot-Marie-Tooth Disease

DCTN1, DYNC1H1, SETX, KIF1B, HOXD10, DNAJB2, HSPB1, LAMA2, LMNA, PMP22, POLG, TRPV4, SBF1, REEP1, SH3TC2, ARHGEF10, MFN2

C0008384

Cholesterol Ester Storage Disease

LIPA

C0008495

Chorioamnionitis

IL1A

C0008525

Choroideremia

CHM

C0008626

Congenital Chromosomal Disease

POT1

C0008780

Ciliary Motility Disorders

DNAH5, IFT122, INPP5E

C0008924

Cleft Lip

SPRY2, MTHFS, FGF2, FGF7, FGF9, FGFR1, FGFR2, IRF6, MTHFR, MTR, MYC, NOS3, PTCH1, SLC19A1, TYMS, MAFB

C0008925

Cleft Palate

SPRY2, MTHFS, DLG1, FGF2, FGF7, FGF9, FGFR1, FGFR2, IRF6, MNT, MTR, MYC, NOS3, PDGFRA, BNC2, PTCH1, SIM2, SLC19A1, TGFB1, TGFB2, TYMS, FZD4, CASK, CBFB

C0008928

Cleidocranial Dysplasia

RUNX2

C0009081

Congenital Clubfoot

MTHFR

C0009363

Congenital Ocular Coloboma (Disorder)

ABCB6, YAP1, LAMB1, ALDH7A1, ACTB, SALL2, ACTG1

C0009405

Hereditary Nonpolyposis Colorectal Neoplasms

MLH3, MSH6, APC, EPCAM, MLH1, MSH2, TGFBR2

C0010074

Coronary Vessel Anomalies

GCLC

C0010273

Craniofacial Dysostosis

FGFR2

C0010278

Craniosynostosis

ERF, EZH2, FGFR2, IFT122, WDR35, BMP2, TCF12, TWIST1

C0010308

Congenital Hypothyroidism

DUOX2

C0010314

Cri-Du-Chat Syndrome

SEMA5A

C0010417

Cryptorchidism

CHRM3, GPX4, HSD3B2, INSL3, ATRX

C0010674

Cystic Fibrosis

CFTR, CLCA4, SCNN1A, SCNN1G, TGFB1

C0010691

Cystinuria

SLC7A9

C0010964

Dandy-Walker Syndrome

FOXC1

C0011195

Dejerine-Sottas Disease (Disorder)

EGR2, PMP22

C0011436

Dentinogenesis Imperfecta

DSPP

C0011615

Dermatitis, Atopic

KIF3A, CCDC80, HLA-B, IL1B, IL6, IL10, PBX2, PPARA, RNF111, MAPK8, EMSY, S100A8, CCL5, GPSM3, SELE, SLC11A1, TNXB, IL18R1, VNN1, IL33

C0011989

Camurati-Engelmann Syndrome

TGFB1

C0012236

Digeorge Syndrome

COMT, CRKL, GP1BB, TBX1, HIRA, UFD1L

C0013069

Double Outlet Right Ventricle

ZFPM2

C0013080

Down Syndrome

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, GSTM2, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, CXCL8, IL10RB, MIR155, MTHFR, MTR, NCAM2, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, S100B, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SON, PRDX2, TIAM1, TTC3, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, ADAMTS1, PRDX6, CRYZL1

C0013261

Duane Retraction Syndrome

CHN1

C0013264

Muscular Dystrophy, Duchenne

POSTN, DMD, CCL2, TGFB1, CD4

C0013274

Patent Ductus Arteriosus

AGTR1, PTGIS, TRAF1

C0013336

Dwarfism

PLK4, HAPLN1, ORC1

C0013364

Dysautonomia, Familial

IKBKAP

C0013575

Ectodermal Dysplasia

ITGB4

C0013581

Ectopia Lentis

FBN1, ADAMTSL4

C0013720

Ehlers-Danlos Syndrome

COL3A1

C0013902

Elliptocytosis, Hereditary

GYPC

C0013903

Ellis-Van Creveld Syndrome

EVC

C0014067

Occipital Encephalocele

DACT1

C0014527

Epidermolysis Bullosa

ITGB4

C0015306

Hereditary Multiple Exostoses

EXT1, EXT2, PTPN11

C0015393

Eye Abnormalities

JAG1, SH3PXD2B, APC, NDST1, IFT122, BMPR1A, TGFB2, TGFBR2

C0015398

Eye Diseases, Hereditary

PLK4, LRP2, INPP5E

C0015499

Factor V Deficiency

F5

C0015530

Factor Xiii Deficiency

F13A1, F13B

C0015624

Fanconi Syndrome

GPX3

C0015625

Fanconi Anemia

ERCC4, FANCD2, FANCE, FANCB, FANCG, UBE2T, FANCI, FANCM, RAD51C, BRCA2, TNF

C0015702

Favism

G6PD

C0015934

Fetal Growth Retardation

COMT, AGT, LINC00908, IGF1R, IGF2, NOS3, ORC1

C0016508

Congenital Foot Deformity

LMNA, PTHLH

C0016667

Fragile X Syndrome

FMR1, AFF2, APP

C0016719

Friedreich Ataxia

FXN

C0016756

Fructose-1,6-Diphosphatase Deficiency

FBP1

C0016788

Fucosidase Deficiency Disease

FUCA1

C0016952

Galactosemias

GALE, GALT

C0017097

Gardner Syndrome

APC

C0017205

Gaucher Disease

CHIT1, ACE, SNCA

C0017495

Gerstmann-Straussler-Scheinker Disease

PRNP

C0017919

Glycogen Storage Disease

PHKA2

C0017920

Glycogen Storage Disease Type I

G6PC

C0017921

Glycogen Storage Disease Type Ii

GAA

C0017922

Glycogen Storage Disease Type Iii

AGL, GBE1

C0017923

Glycogen Storage Disease Type Iv

GBE1

C0017924

Glycogen Storage Disease Type V

ACE, PYGM

C0017927

Glycogen Storage Disease Type Viii

PHKA2

C0018051

Gonadal Dysgenesis

FMR1

C0018099

Gout

ALDH16A1, FGFR2, IL1B, CD14

C0018203

Chronic Granulomatous Disease

CYBB, G6PD, NCF2, NCF4

C0018522

Hallermann'S Syndrome

GJA1