C0035220

Respiratory Distress Syndrome, Newborn

MEGF10

C0035238

Congenital Abnormality Of Respiratory System

PDGFRA, TGFB2

C0035334

Retinitis Pigmentosa

MERTK, TTC8, CNGA1, ZNF513, HGSNAT, ATF6, CRB1, PRPF31, GUCA1B, GUCY2D, IDH3B, EYS, CERKL, MAK, NEK2, SPATA7, KIZ, KLHL7, BBS2, RP9, RP2, RPGR, SEMA4A, BEST1, CA4, PANK2, FAM161A, OFD1, UNC119, PRPF3

C0035344

Retinopathy Of Prematurity

AGT, LRP5, NDP, FZD4

C0035372

Rett Syndrome

EGR2

C0035828

Romano-Ward Syndrome

ANK2, KCNH2, SNTA1, CALM2

C0035934

Rubinstein-Taybi Syndrome

CREBBP, EP300

C0036391

Schwartz-Jampel Syndrome

HSPG2

C0036400

Scimitar Syndrome

ANKRD1

C0036489

Sea-Blue Histiocyte Syndrome

APOE

C0036875

Disorders Of Sex Development

AKR1C1, AKR1C2, LHCGR, AKR1C3

C0036996

Short Rib-Polydactyly Syndrome

NEK1

C0037221

Situs Inversus

ACVR2B

C0037231

Sjogren-Larsson Syndrome

ALDH3A2

C0037268

Skin Abnormalities

ERCC2, FGFR2, IRF6, SOD2, SUPV3L1

C0037773

Spastic Paraplegia, Hereditary

PQBP1, TECPR2, MFN2

C0037889

Hereditary Spherocytosis

DHODH, UMPS, CAD

C0037917

Spina Bifida Cystica

CHRNA7

C0039075

Syndactyly

FZD4

C0039292

Tangier Disease

ABCA1

C0039373

Tay-Sachs Disease

GM2A, HEXA

C0039445

Hereditary Hemorrhagic Telangiectasia

SMAD4

C0039585

Androgen-Insensitivity Syndrome

AR

C0039685

Tetralogy Of Fallot

CITED2, JAG1, FOXC1, ZFPM2, GATA4, GATA6, GJA5, TBX1, NRP1

C0040015

Thrombasthenia

ITGB3

C0040427

Tooth Abnormalities

FGFR2, PITX2, TMCO1, ANKH, RUNX2

C0041207

Truncus Arteriosus, Persistent

SEMA3C, GATA6

C0041341

Tuberous Sclerosis

TSC2

C0041408

Turner Syndrome

GH1, SOD2

C0041409

Turner Syndrome, Male

PTPN11

C0042063

Urogenital Abnormalities

TGFB2

C0042974

Von Willebrand Disease

VWF

C0043119

Werner Syndrome

LMNA

C0043207

Wolfram Syndrome

CISD2

C0043208

Wolman Disease

LIPA

C0043346

Xeroderma Pigmentosum

POLH, XPA

C0043459

Zellweger Syndrome

HSD17B4, PEX12, PEX14, ABCD3, PEX3, PEX11B

C0078918

Albinism, Oculocutaneous

MITF, TYR

C0079153

Hyperkeratosis, Epidermolytic

ERCC2, KRT1

C0079294

Epidermolysis Bullosa Dystrophica

MMP1

C0079298

Epidermolysis Bullosa Simplex

ITGB4

C0079301

Junctional Epidermolysis Bullosa

ITGB4, LAMA3

C0079474

Hallopeau-Siemens Disease

MMP1

C0079541

Holoprosencephaly

GAS1, PTCH1, TDGF1

C0079588

Ichthyosis, X-Linked

STS

C0079683

Herlitz Disease

LAMA3

C0080024

Piebaldism

KIT, SNAI2

C0080178

Spina Bifida

CFL1, CHKA, FGFR2, TXN2, PCMT1, PCYT1A, PDGFRA, PON1, CCL2

C0080333

Weber-Cockayne Syndrome

ITGB4

C0085106

Familial Benign Pemphigus

ATP2C1

C0085110

Severe Combined Immunodeficiency

ADA, IL7R, JAK3, RAG1, DCLRE1C, TFRC

C0085261

Proteus Syndrome

AKT1, PTEN

C0085280

Alagille Syndrome

JAG1, NOTCH2

C0085390

Li-Fraumeni Syndrome

MDM2, TP53

C0085413

Polycystic Kidney, Autosomal Dominant

BRD4, MYC, PKD1, PKD2, PPARG

C0085548

Autosomal Recessive Polycystic Kidney Disease

EGFR, NPHP3

C0086647

Mucopolysaccharidosis Type Iiia

SGSH, GNPTAB

C0086648

Mps Iii B

NAGLU

C0086649

Mps Iii C

HGSNAT

C0086650

Mps Iii D

GNS

C0086651

Mucopolysaccharidosis, Mps-Iv-A

GALNS

C0087012

Ataxia, Spinocerebellar

FOXC1, CIC, ATXN1, RBM17

C0151491

Congenital Musculoskeletal Anomalies

TMCO1, SKI, TGFB2

C0151516

Thyroid Hypoplasia

PAX8

C0152101

Hypoplastic Left Heart Syndrome

GJA1

C0152426

Craniorachischisis

DACT1

C0152427

Polydactyly

KIF3A, GLI3, PTEN

C0162309

Adrenoleukodystrophy

HMOX1, SOD2

C0162531

Hereditary Coproporphyria

CPOX

C0162533

Porphyrias, Hepatic

ALAD

C0162566

Porphyria Cutanea Tarda

CPOX, HFE, UROD

C0162568

Erythropoietic Protoporphyria

EREG, AREG, BTC

C0162569

Hepatoerythropoietic Porphyria

UROD

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162672

Merrf Syndrome

IL1A, IL1B

C0162809

Kallmann Syndrome

SEMA3A, DUSP6, FGFR1, FLRT3, NSMF, ANOS1, CHD7, WDR11, SPRY4, KISS1R, HS6ST1

C0175683

Citrullinemia

ASS1

C0175693

Russell-Silver Syndrome

H19, IGF2, FOXP2

C0175694

Smith-Lemli-Opitz Syndrome

DHCR7

C0175699

Saethre-Chotzen Syndrome

FGFR2, TWIST1

C0175702

Williams Syndrome

DLG4, TBL2, GTF2I, RFC2, CLIP2, BAZ1B

C0175704

Leopard Syndrome

PTEN, PTPN11, RAF1

C0205711

Pelizaeus-Merzbacher Disease

LMNB1, PLP1

C0205713

Roussy-Levy Syndrome (Disorder)

PMP22

C0205730

Hereditary Opalescent Dentin (Disorder)

DSPP

C0206081

Hyperandrogenism

BMPR2

C0206115

Wagr Syndrome

BDNF, WT1

C0206245

Amyloid Neuropathies, Familial

TTR

C0206762

Limb Deformities, Congenital

GPC6, COL11A2, HAPLN1, FGFR2, IRF6, MIR17HG, TGFB2, CACNA1C

C0220658

Pfeiffer Syndrome

FGFR1, FGFR2

C0220704

Shprintzen Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0220756

Niemann-Pick Disease, Type C

LIPA, NPC1

C0221043

Liddle Syndrome

SCNN1A, SCNN1G

C0221054

Welander Distal Myopathy

TIA1

C0221060

Mobius Syndrome

PLXND1, REV3L

C0221355

Macrocephaly

CHD8

C0221357

Brachydactyly

GNAS, SMAD4, HDAC4

C0221757

Alpha 1-Antitrypsin Deficiency

SERPINA1

C0235752

Port-Wine Stain

GNAQ, RASA1

C0235833

Congenital Diaphragmatic Hernia

CTGF, ZFPM2, GATA4, GATA6, IGF1R, IGF2R, INSR, WT1