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

C0266929

Chronic Periodontitis

CXCL12, TNFSF11

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

C0268742

Membranoproliferative Glomerulonephritis, Type I

CFH

C0268743

Membranoproliferative Glomerulonephritis, Type Ii

CFH, CFHR1

C0270612

Leukoencephalopathies

CSF1R, DPYD, MTHFR, MTR, SCP2, SPP1

C0270736

Essential Tremor

SLC1A2

C0270853

Myoclonic Epilepsy, Juvenile

JRK

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

C0271051

Macular Retinal Edema

VEGFA

C0271568

Laron Syndrome

GHR

C0271623

Hypogonadotropic Hypogonadism

GNRHR

C0271650

Impaired Glucose Tolerance

PRDX4, INS, INSR, PRKAA2, RARRES2, SLC12A2, CD36

C0271694

Familial Partial Lipodystrophy

AKT2, LMNA, PPARG, PPP1R3A, CAV1

C0271695

Rabson-Mendenhall Syndrome

INSR

C0271934

Congenital Dyserythropoietic Anemia, Type Iii

KIF23

C0271979

Thalassemia Intermedia

HBB

C0272199

Familial Hemophagocytic Lymphocytosis

STXBP2, STX11

C0272236

Hyperimmunoglobulin M Syndrome

UNG

C0272375

Antithrombin Iii Deficiency

SERPINC1

C0273115

Lung Injury

CYP1A1, AHR, ELF3, FGF7, HMOX1, TNC, IL6, MME, NGF, NTRK1, CCL2, CCL3, CCL4, TGFA, TLR4, TNF, PDGFD

C0276226

Herpes Encephalitis

TLR3

C0278076

Behavioral Tic

SNAP25

C0279702

Conventional (Clear Cell) Renal Cell Carcinoma

FLCN, FHIT, HNF1A

C0280793

Mixed Oligodendroglioma-Astrocytoma

IDH2

C0281508

Desmoplastic Small Round Cell Tumor

EWSR1, WT1

C0282102

Chondrodysplasia Punctata, X-Linked Dominant Type

EBP

C0282160

Aplasia Cutis Congenita

DLL4

C0282193

Iron Overload

FTH1, SLC40A1, HAMP, TF

C0282507

Heat Stress Disorders

HSPA1A

C0282512

Landau-Kleffner Syndrome

GRIN2A

C0282513

Primary Progressive Aphasia (Disorder)

GRN

C0282525

Adrenoleukodystrophy, Neonatal

PEX12, PEX14, PEX3, PEX11B

C0282527

Infantile Refsum Disease (Disorder)

PEX12, PEX14, PEX3, PEX11B

C0282528

Peroxisomal Disorders

HSD17B4, PIPOX

C0282548

Leukostasis

ICAM1, PPARG

C0282550

Persian Gulf Syndrome

PON1

C0282612

Prostatic Intraepithelial Neoplasias

CDKN1B, DNMT1, ESR1, ESR2, GSTP1, AR, MT2A, PTEN

C0282631

Facies

CCBE1, JAG1, FMR1, AFF4

C0302592

Cervix Carcinoma

HLA-DPB2, EXOC1, TP53

C0311277

Obesity, Abdominal

HSD11B1

C0311375

Arsenic Poisoning

N4BP2L2, CRP, ERCC1, ERCC4, RUFY3, TNIK, GOLGA4, CXCL2, TRA2A, HSPA1B, ID2, IL1A, IL1B, IL1RN, AQP9, MTHFR, GADD45B, NDUFB8, PNP, NR4A2, PFKFB3, ZFAND6, ZNF331, PELI1, AS3MT, PTX3, CCL4, CCL20, SFPQ, SKIL, SOD2, SSBP1, TRAPPC10, TNF, TNFAIP6, TP53, UBE2E1, TAF1D, IER3, USP13, CD83, MINPP1, CD44

C0333355

Inflammatory Disease Of Mucous Membrane

IL1B, IL1RN, IL10, MTHFR, TGFA

C0333463

Senile Plaques

GALNT7

C0333641

Atrophic

CLU, AHR, IL1RN, CLN6, MAPK3, STAT3

C0334121

Inflammatory Myofibroblastic Tumor

RANBP2, TPM3, TPM4

C0334579

Anaplastic Astrocytoma

IDH2

C0334580

Protoplasmic Astrocytoma

IDH2

C0334581

Gemistocytic Astrocytoma

IDH2

C0334582

Fibrillary Astrocytoma

IDH2

C0334583

Pilocytic Astrocytoma

FGFR1, KRAS, NTRK2, RAF1

C0334588

Giant Cell Glioblastoma

TACC3, EGFR, FGFR1, IDH1, PPARG, TACC1, TP53

C0334590

Anaplastic Oligodendroglioma

POT1, IDH2

C0334634

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

CTNNB1, EIF4E, EIF4EBP1, AK1, GSK3B, PIK3CD, WNT3, ARHGAP29

C0338451

Frontotemporal Dementia

GRN, MAPT, PSEN1

C0338462

Semantic Dementia

GRN, MAPT, PSEN1, VCP

C0338473

Neuroaxonal Dystrophies

TECPR2

C0338480

Common Migraine

WAPL, MEF2D, RABGAP1L

C0338503

Septo-Optic Dysplasia

FGFR1, OTX2

C0338508

Optic Atrophy, Autosomal Dominant

OPA1

C0338575

Sagittal Sinus Thrombosis

F5, PLAU

C0339143

Thyroid Associated Opthalmopathies

PTGS2, SCD

C0339277

Corneal Dystrophy, Juvenile Epithelial Of Meesmann

KRT3