Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602032 http://purl.bioontology.org/ontology/OMIM/602032
Preferred Name	ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
Synonyms	ECTD4 ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ECTD4 ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE
prefLabel	ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
Gene Symbol	KRT85 KRTHB5 ECTD4 HB5
Scope Statement	Caused by mutation in the keratin 85 gene (KRT85, 602767.0001) [MOLECULAR BASIS] Three families described (last curated January 2014) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU002127 http://purl.bioontology.org/ontology/OMIM/MTHU002046 http://purl.bioontology.org/ontology/OMIM/MTHU040883 http://purl.bioontology.org/ontology/OMIM/MTHU040638 http://purl.bioontology.org/ontology/OMIM/MTHU036415 http://purl.bioontology.org/ontology/OMIM/MTHU005951 http://purl.bioontology.org/ontology/OMIM/MTHU005256 http://purl.bioontology.org/ontology/OMIM/MTHU019540 http://purl.bioontology.org/ontology/OMIM/MTHU036696 http://purl.bioontology.org/ontology/OMIM/MTHU002738 http://purl.bioontology.org/ontology/OMIM/MTHU002735 http://purl.bioontology.org/ontology/OMIM/MTHU002736 See more See less
tui	T047
Gene Locus	12q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602032
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4024880
OMIM Entry Type	3
OMIM MimType Value	pound

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