Online Mendelian Inheritance in Man - ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614941 http://purl.bioontology.org/ontology/OMIM/614941
Preferred Name	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
Synonyms	ECTD11B ECTODERMAL DYSPLASIA, ANHIDROTIC HED EDA ECTODERMAL DYSPLASIA, HYPOHIDROTIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ECTD11B ECTODERMAL DYSPLASIA, ANHIDROTIC HED EDA ECTODERMAL DYSPLASIA, HYPOHIDROTIC
prefLabel	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
Gene Symbol	ECTD11A EDA3 EDARADD ED3 ECTD11B
Scope Statement	Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU055173 http://purl.bioontology.org/ontology/OMIM/MTHU055171 http://purl.bioontology.org/ontology/OMIM/MTHU007743 http://purl.bioontology.org/ontology/OMIM/MTHU069483 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU055172 http://purl.bioontology.org/ontology/OMIM/MTHU007756 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU055176 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU005751 http://purl.bioontology.org/ontology/OMIM/MTHU049474 http://purl.bioontology.org/ontology/OMIM/MTHU055177 http://purl.bioontology.org/ontology/OMIM/MTHU006022 http://purl.bioontology.org/ontology/OMIM/MTHU004153 http://purl.bioontology.org/ontology/OMIM/MTHU007748 http://purl.bioontology.org/ontology/OMIM/MTHU055175 http://purl.bioontology.org/ontology/OMIM/MTHU036335 http://purl.bioontology.org/ontology/OMIM/MTHU002944 http://purl.bioontology.org/ontology/OMIM/MTHU057535 http://purl.bioontology.org/ontology/OMIM/MTHU039345 http://purl.bioontology.org/ontology/OMIM/MTHU013397 See more See less
tui	T047
Gene Locus	1q42.2-q43
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614941
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3539920
OMIM Entry Type	3
OMIM MimType Value	pound

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