Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
Synonyms

KID SYNDROME, AUTOSOMAL DOMINANT
ID

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

KID SYNDROME, AUTOSOMAL DOMINANT
cui

C0265336
Gene Locus

13q11-q12
Gene Symbol

DFNB1A

HID

GJB2

PPK

DFNA3A

KID

CX26
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU027165

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027166

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017619

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU017621

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

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

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

Phenotype description, molecular basis known.
notation

148210
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536168 Medical Subject Headings CUI