KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

KID SYNDROME, AUTOSOMAL DOMINANT

http://purl.bioontology.org/ontology/OMIM/148210

KID SYNDROME, AUTOSOMAL DOMINANT

KIDAD

C0265336

13q11-q12

GJB2

BAPS

PPK

DFNA3A

CX26

HID

KID

DFNB1A

http://purl.bioontology.org/ontology/OMIM/MTHU017614

http://purl.bioontology.org/ontology/OMIM/MTHU017609

http://purl.bioontology.org/ontology/OMIM/MTHU017606

http://purl.bioontology.org/ontology/OMIM/MTHU017603

http://purl.bioontology.org/ontology/OMIM/MTHU001751

http://purl.bioontology.org/ontology/OMIM/MTHU017617

http://purl.bioontology.org/ontology/OMIM/MTHU017607

http://purl.bioontology.org/ontology/OMIM/MTHU008216

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU006236

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU017602

http://purl.bioontology.org/ontology/OMIM/MTHU017605

http://purl.bioontology.org/ontology/OMIM/MTHU017610

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU017612

http://purl.bioontology.org/ontology/OMIM/MTHU036888

http://purl.bioontology.org/ontology/OMIM/MTHU017600

http://purl.bioontology.org/ontology/OMIM/MTHU017608

http://purl.bioontology.org/ontology/OMIM/MTHU017613

http://purl.bioontology.org/ontology/OMIM/MTHU017601

http://purl.bioontology.org/ontology/OMIM/MTHU036878

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU017611

http://purl.bioontology.org/ontology/OMIM/MTHU017604

http://purl.bioontology.org/ontology/OMIM/MTHU017616

Phenotype description, molecular basis known.

148210

3

pound

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

HID (Hystrix-like Ichthyosis with Deafness, 602540) is identical to KID at the molecular level [MISCELLANEOUS]

Caused by mutation in the gap junction protein, beta 2 gene (GJB2, 121011.0020) [MOLECULAR BASIS]

Onset - present at birth [MISCELLANEOUS]

KID is an acronym of Keratitis, Ichthyosis, Deafness [MISCELLANEOUS]

T047