Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/601553 http://purl.bioontology.org/ontology/OMIM/601553
Preferred Name	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Synonyms	HJMD HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HJMD HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY
prefLabel	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Gene Symbol	CDHP HJMD CDH3 PCAD
notation	601553
Scope Statement	Caused by mutation in the cadherin 3 gene (CDH3, 114021.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005950 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU005947 http://purl.bioontology.org/ontology/OMIM/MTHU005951 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU002738 http://purl.bioontology.org/ontology/OMIM/MTHU005948 http://purl.bioontology.org/ontology/OMIM/MTHU005949 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	16q22.1
tui	T047
cui	C1832162

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