C0018523

Hallervorden-Spatz Syndrome

PANK2

C0018553

Hamartoma Syndrome, Multiple

AKT1, FGFR2, PIK3CA, PTEN, SDHB, SDHC, BMPR1A

C0018566

Congenital Hand Deformities

LMNA, PTHLH, SOX9

C0018798

Congenital Heart Defects

JAG1, RCAN1, ECE1, EDN1, EDNRA, AHR, FOLR1, NIPBL, AFF4, GNA11, GNAQ, GP1BB, HIF1A, HOXA1, HOXA3, MTHFR, NOTCH1, NPPB, PITX2, POU5F1, MAML3, TBX1, TGFB2, UFD1L, VEGFA, CBFB, KLF4, ZEB2

C0018816

Heart Septal Defects

CITED2, PCSK5

C0018817

Atrial Septal Defects

PQBP1

C0018818

Ventricular Septal Defects

PCSK5

C0018995

Hemochromatosis

SLC40A1, HFE, HP, SLC11A2, HAMP, BMP2, BMP6, TFR2, TNF

C0019021

Hemoglobin C Disease

HBB

C0019034

Hemoglobin Sc Disease

HBB

C0019045

Hemoglobinopathies

HBB

C0019069

Hemophilia A

F8

C0019202

Hepatolenticular Degeneration

AHCY, A2M, ANXA5, APOE, IL6, CXCL8, IL10, LOX, LOXL2, NDUFB7, PPP3CA, PRNP, HAMP, SNCA, TIMP1, TNF

C0019243

Angioedemas, Hereditary

KNG1, SERPING1

C0019569

Hirschsprung Disease

SEMA3C, ECE1, SEMA3D, NRG1

C0019880

Homocystinuria

CBS

C0020071

Hereditary Sensory Autonomic Neuropathy, Type 1

ATL3, SPTLC2

C0020074

Hsan Type Iv

NTRK1

C0020075

Hereditary Sensory Autonomic Neuropathy, Type 5

NGF, NTRK1, SCN9A

C0020179

Huntington Disease

CNR1, RCAN1, HTT, MAOA, MAOB, IP6K2, SLC2A3, AIFM1

C0020225

Hydranencephaly

NDE1

C0020302

Hydrophthalmos

CYP1B1

C0020305

Hydrops Fetalis

CCBE1

C0020445

Hypercholesterolemia, Familial

ABCA1, PCSK9, GHR, APOA2, APOA4, APOB, APOC3, APOE, LDLR, LPL, PON1

C0020474

Hyperlipidemia, Familial Combined

LPL

C0020479

Hyperlipoproteinemia Type Iii

APOA5, APOE

C0020480

Hyperlipoproteinemia Type Iv

APOA5

C0020481

Hyperlipoproteinemia Type V

APOA5, LPL

C0020497

Cortical Congenital Hyperostosis

COL1A1

C0020597

Hypobetalipoproteinemias

APOB

C0020640

Inherited Factor Ii Deficiency

F2

C0020725

Type Ii Mucolipidosis

GNPTAB

C0020757

Ichthyoses

SUPV3L1

C0021290

Neonatal Disorder

FKBP5

C0021295

Infant, Premature, Diseases

ACE

C0022360

Jaw Abnormalities

OTX2, PCSK5, POLD1

C0022521

Kartagener Syndrome

DNAH5, DNAH1, DNAI1, RSPH4A, CCDC103, ARMC4, DNAAF2, DNAL1, RSPH1, DRC1

C0022595

Keratosis Follicularis

ATP2A2

C0022680

Polycystic Kidney Diseases

SEC63, PKD1, PRKCSH

C0022797

Adult Neuronal Ceroid Lipofuscinosis

CLN6

C0023264

Leigh Disease

MTFMT, NDUFAF6, DLD, ECHS1, NDUFA2, NDUFS2, NDUFS4, NDUFS8, TACO1, POLG, BCS1L, SDHA, NDUFAF5, NDUFAF2

C0023521

Globoid Cell Leukodystrophy

GALC

C0023522

Leukodystrophy, Metachromatic

ARSA

C0023772

Lipid Metabolism, Inborn Errors

DECR1, PRKAG3

C0023794

Lipoidosis

DEPP, AP1S1, SERPINA3, NUPR1, LSS, ASAH1, ASNS, PPARG, WIPI1, SCD, FNDC4, SLC2A3, TAGLN, NR0B2, FADS2

C0023806

Lipomucopolysaccharidosis

NEU1

C0023817

Hyperlipoproteinemia Type I

LPL

C0023931

Lobstein'S Disease

COL1A1, COL1A2

C0023976

Long Qt Syndrome

DSP, ANK2, KCNH2, POMC, PTEN, RYR2, SNTA1, CACNA1C

C0024408

Machado-Joseph Disease

ATXN3

C0024433

Macrostomia

FRAS1

C0024439

Macular Corneal Dystrophy

CHST6

C0024507

Majewski Syndrome

NEK1

C0024748

Alpha-Mannosidosis

MAN2B1

C0024776

Maple Syrup Urine Disease

DBT, DLD, BCKDHA, BCKDHB

C0024796

Marfan Syndrome

FBN1, LAMC1, MMP2, MMP9, SOD2, TGFBR2

C0025237

Melnick-Needles Syndrome

FLNA

C0025267

Multiple Endocrine Neoplasia Type 1

CDKN1A, CDKN1B, CDKN2B, CDKN2C

C0025312

Meningomyelocele

MTHFR, SOD2, ALDH1A2

C0025521

Inborn Errors Of Metabolism

DHFR, LDHB, LEPR, MYO5B, PLA2G4A, ABCD4, SLC2A1, TPI1, PLA2G7

C0025958

Microcephaly

PQBP1, STAMBP, PLK4, DYNC1H1, FOXG1, WDR62, KIF5C, MIR17HG, ORC1, SLC2A1, TCF4, BUB1B, TUBG1, MFSD2A, CASK

C0026633

Mouth Abnormalities

PCSK5

C0026706

Mucopolysaccharidosis Iii

HGSNAT, GNS, NAGLU, SGSH

C0026707

Mucopolysaccharidosis Iv

GALNS

C0026709

Mucopolysaccharidosis Vi

ARSB

C0026850

Muscular Dystrophy

COL6A1, DMD, LAMA2, SEPN1

C0027126

Myotonic Dystrophy

DMPK

C0027672

Neoplastic Syndromes, Hereditary

RAD50, CDK4, FLCN, FH, PALLD, MSH6, APC, SMAD4, MET, MITF, MLH1, MRE11A, MSH2, MUTYH, NBN, PTEN, BARD1, RAD51C, SDHA, SDHB, SDHC, BLM, BMPR1A, BRCA1, BRCA2, STK11, TP53, TSC2

C0027706

Hereditary Nephritis

COL4A3, MYH9

C0027708

Nephroblastoma

GLIPR1, CTNNB1, PCSK9, H19, IGF2, NHS, BRCA2, WT1

C0027773

Nesidioblastosis

KCNJ11

C0027794

Neural Tube Defects

SPINT2, FOLR1, GLI3, INS, MTHFD1, MTHFR, NPY1R, GHRL, RRM1, CCL2, SKI

C0027831

Neurofibromatosis 1

SPRED1, MSH2

C0027832

Neurofibromatosis 2

NF2

C0027877

Neuronal Ceroid-Lipofuscinoses

TPP1, CLN3, ATP13A2, CLN6

C0027888

Hereditary Motor And Sensory Neuropathies

DYNC1H1, EGR2, PMP22

C0027889

Hereditary Sensory And Autonomic Neuropathies

DNMT1, NGF, NTRK1

C0028326

Noonan Syndrome

KAT6B, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, RASA2, RIT1, SOS1, SOS2

C0028860

Oculocerebrorenal Syndrome

OCRL

C0029411

Osteoarthropathy, Primary Hypertrophic

HPGD

C0029422

Osteochondrodysplasias

COL9A1, COL11A1, FLNA, HSPG2, SOST, TRPV4, BCL2, TRAPPC2, VEGFA

C0029434

Osteogenesis Imperfecta

CRTAP, COL1A1, COL1A2, SPARC

C0030360

Papillon-Lefevre Disease

CTSC

C0031269

Peutz-Jeghers Syndrome

STK11

C0031485

Phenylketonurias

QDPR

C0031900

Pierre Robin Syndrome

SOX9

C0032339

Rothmund-Thomson Syndrome

RECQL4

C0032580

Adenomatous Polyposis Coli

CYP26A1, AKT1, GREM1, APC, MUTYH, NTHL1, PTGS2, SOD2

C0032897

Prader-Willi Syndrome

SNRPN

C0033300

Progeria

LMNA

C0033770

Prune Belly Syndrome

CHRM3

C0033788

Pseudo-Hurler Polydystrophy

GNPTAB

C0033805

Pseudohypoaldosteronism

KLHL3, GNAS, SCNN1A, SCNN1G, WNK1

C0033806

Pseudohypoparathyroidism

GNAS

C0033835

Pseudopseudohypoparathyroidism

GNAS

C0033847

Pseudoxanthoma Elasticum

ENPP1, XYLT2

C0034139

Purine-Pyrimidine Metabolism, Inborn Errors

DPYD

C0034341

Pyruvate Carboxylase Deficiency Disease

PC

C0034345

Pyruvate Dehydrogenase Complex Deficiency Disease

PDHA1, PDHB

C0034350

Pyruvate Metabolism, Inborn Errors

PDHA1