C0238111

Lennox-Gastaut Syndrome

CHD2

C0238288

Muscular Dystrophy, Facioscapulohumeral

CDKN1A, COL3A1, DCN, ACAN, SMCHD1, GSTT2, HSPA1B, HSPA4, LUM

C0238402

Pycnodysostosis

CTSK

C0242341

Sexual Infantilism

CYP19A1

C0242387

Mandibulofacial Dysostosis

POLR1D, TCOF1, POLR1C

C0243050

Cardiovascular Abnormalities

EDN1

C0243057

Stomatognathic System Abnormalities

RUNX2

C0259771

Steatocystoma Multiplex

KRT17

C0265219

Miller Dieker Syndrome

YWHAE

C0265220

Pallister-Hall Syndrome

GLI3

C0265221

Walker-Warburg Congenital Muscular Dystrophy

POMT1, B4GAT1, DAG1, FKRP, POMK, POMGNT2, LARGE

C0265233

Cryptophthalmos Syndrome

FRAS1

C0265313

Weill-Marchesani Syndrome

FBN1, ADAMTS10

C0265326

Bannayan-Riley-Ruvalcaba Syndrome

PTEN

C0265334

Pachyonychia Congenita

KRT16, KRT17

C0265344

Donohue Syndrome

INSR

C0265354

Charge Syndrome

CHD7, SEMA3E

C0265961

Erythrokeratodermia Variabilis

GJA1

C0265965

Dyskeratosis Congenita

DKC1, PARN, GAR1, NOP10

C0265970

Porokeratosis, Disseminated Superficial Actinic

FDPS, MVD, MVK

C0265971

Acrokeratosis Verruciformis Of Hopf

ATP2A2

C0266484

Schizencephaly

EMX2

C0266568

Persistent Hyperplastic Primary Vitreous

NDP, FZD4

C0266642

Situs Ambiguus

ACVR2B

C0268151

Classical Galactosemia

GALT

C0268226

Type I Mucolipidosis

NEU1

C0268237

Cytochrome-C Oxidase Deficiency

PET100, COX20, COX6B1, COA3, TACO1, APOPT1, COX14

C0268247

Niemann-Pick Disease, Type D

NPC1

C0268252

Late-Onset Globoid Cell Leukodystrophy

GALC

C0268255

Farber Lipogranulomatosis

ASAH1, SOD2

C0268263

Multiple Sulfatase Deficiency Disease

SUMF1

C0268275

Tay-Sachs Disease, Ab Variant

GM2A

C0268301

Reifenstein Syndrome

AR

C0268338

Ehlers-Danlos Syndrome, Type Iv

COL3A1, COL5A1

C0268393

Familial Cerebral Amyloid Angiopathy

CST3

C0268394

Hereditary Cerebral Amyloid Angiopathy, Dutch Type

APP

C0268450

Gitelman Syndrome

CLCNKB

C0268465

Phenylketonuria Ii

QDPR

C0268483

Tyrosinemias

FAH

C0268490

Tyrosinemia, Type I

FAH

C0268553

Hyperlysinemias

AASS

C0268556

Saccharopinuria

AASS

C0268568

Classic Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0268569

Intermittent Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0268579

Propionic Acidemia

PCCA

C0268596

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

ETFDH

C0270911

Charcot-Marie-Tooth Disease, Type Ia (Disorder)

PMP22

C0270914

Hereditary Motor And Sensory-Neuropathy Type Ii

SCN9A, WNK1

C0270952

Muscular Dystrophy, Oculopharyngeal

PABPN1

C0270972

Cornelia De Lange Syndrome

NIPBL, HDAC8, RAD21, SMC1A, SMC3

C0271568

Laron Syndrome

GHR

C0271695

Rabson-Mendenhall Syndrome

INSR

C0271934

Congenital Dyserythropoietic Anemia, Type Iii

KIF23

C0271979

Thalassemia Intermedia

HBB

C0272236

Hyperimmunoglobulin M Syndrome

UNG

C0272375

Antithrombin Iii Deficiency

SERPINC1

C0282160

Aplasia Cutis Congenita

DLL4

C0282525

Adrenoleukodystrophy, Neonatal

PEX12, PEX14, PEX3, PEX11B

C0282527

Infantile Refsum Disease (Disorder)

PEX12, PEX14, PEX3, PEX11B

C0282528

Peroxisomal Disorders

HSD17B4, PIPOX

C0338503

Septo-Optic Dysplasia

FGFR1, OTX2

C0338508

Optic Atrophy, Autosomal Dominant

OPA1

C0339277

Corneal Dystrophy, Juvenile Epithelial Of Meesmann

KRT3

C0339510

Vitelliform Macular Dystrophy

BEST1

C0342185

Hyperthyroxinemia, Familial Dysalbuminemic

ALB

C0342488

Mineralocorticoid Excess Syndrome, Apparent

HSD11B2

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0342853

Sialuria

GNE

C0344724

Ostium Secundum Atrial Septal Defect

CITED2, GATA4, GATA6, ACTC1

C0345408

Hereditary Clubbing

HPGD

C0346010

Multiple Fibrofolliculomas

FLCN

C0349788

Arrhythmogenic Right Ventricular Dysplasia

DSC2, DSG2, DSP, KCNH2, LMNA, PKP2, TMEM43

C0376634

Craniofacial Abnormalities

GPC6, ATP6AP2, DCAF7, SPRY2, KIF3A, RAB39B, COL11A1, COL11A2, HAPLN1, CSNK1A1, CTNNB1, CNTN4, DLX2, DLX5, DNMT3B, RCAN1, SLC26A2, ECE1, EDN1, EDNRA, EGFR, ERF, ETS2, GPC4, FGFR1, FGFR2, SLC35D1, FMR1, FOLR1, NIPBL, SALL3, GNAQ, GP1BB, SH3PXD2B, FAM83H, SEC61A1, ANXA1, HOXA1, HOXA3, HSPG2, NDST1, IRF6, LETM1, LMNA, LRP2, LTBP3, SMAD2, SMAD3, SMAD4, MMP2, MNT, TRIM37, NOTCH1, PDGFRA, PITX2, TMCO1, ATRX, BNC2, ANKH, PTCH1, PTEN, RAD23B, ACTB, SIM2, SKI, BMPR1A, SOX9, TBX1, TCF4, TCOF1, TGFB2, TGFBR2, ACTG1, TRPS1, UFD1L, UXS1, FZD4, PRKRA, RUNX2, FADD, ITGB1BP1, NRXN1, FOXP2

C0391826

Lhermitte-Duclos Disease

PTEN

C0392514

Hereditary Hemochromatosis

HFE, HAMP, TFR2

C0398368

Lymphatic Abnormalities

HOXA3

C0398689

Hyper-Igm Immunodeficiency Syndrome, Type 1

CD40LG

C0398691

Hyperimmunoglobulinemia D

MVK

C0399352

Developmental Absence Of Tooth

LTBP3

C0406702

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

EDARADD

C0406810

Carney Complex

PRKAR1A

C0410189

Muscular Dystrophy, Emery-Dreifuss

EMD, SYNE2, LMNA

C0410190

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

SYNE2, LMNA, TMEM43

C0431362

Lobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431363

Alobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431391

Hemimegalencephaly

AKT3, PIK3CA

C0431943

Lower Extremity Deformities, Congenital

HOXD10, PCSK5

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0457133

Muscle Eye Brain Disease

POMT1, GMPPB, FKRP, LARGE

C0473527

Hypoalphalipoproteinemias

ABCA1, APOA1

C0497552

Congenital Neurologic Anomalies

SPRED1, HOXA1, ACTB, ACTG1

C0524582

Mulibrey Nanism

TRIM37

C0524948

Maxillofacial Abnormalities

MTHFR

C0553586

Cafe-Au-Lait Macules With Pulmonary Stenosis

MAP2K2

C0587248

Costello Syndrome (Disorder)

KRAS, MAP2K1, MAP2K2, PTPN11

C0598608

Hyperhomocysteinemia

SLC46A1, DES, PYCARD, MTHFR, PON1, TNF, CASP1, CBS

C0600433

Activated Protein C Resistance

TFPI

C0677776

Hereditary Breast And Ovarian Cancer Syndrome

RAD50, MRE11A, NBN, PTEN, BARD1, RAD51, RAD51C, RAD51D, BRCA1, BRCA2, TP53

C0685837

Pure Gonadal Dysgenesis, 46, Xx

FSHR, PSMC3IP, BMP15

C0686353

Muscular Dystrophies, Limb-Girdle

DNAJB6, LMNA