Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617337
http://purl.bioontology.org/ontology/OMIM/617337
Preferred Name

ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
Synonyms
ECTD12
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ECTD12
prefLabel
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
Gene Symbol
ECTD12
C1orf172
KDF1
Scope Statement
Caused by mutation in the keratinocyte differentiation factor-1 gene (KDF1, 616758.0001) [MOLECULAR BASIS]
Based on report of 1 family (last curated February 2017) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU057701
http://purl.bioontology.org/ontology/OMIM/MTHU036684
http://purl.bioontology.org/ontology/OMIM/MTHU036245
http://purl.bioontology.org/ontology/OMIM/MTHU005148
http://purl.bioontology.org/ontology/OMIM/MTHU057698
http://purl.bioontology.org/ontology/OMIM/MTHU057699
http://purl.bioontology.org/ontology/OMIM/MTHU070386
http://purl.bioontology.org/ontology/OMIM/MTHU057694
http://purl.bioontology.org/ontology/OMIM/MTHU005631
http://purl.bioontology.org/ontology/OMIM/MTHU057695
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU021458
http://purl.bioontology.org/ontology/OMIM/MTHU010416
http://purl.bioontology.org/ontology/OMIM/MTHU057700
http://purl.bioontology.org/ontology/OMIM/MTHU006064
http://purl.bioontology.org/ontology/OMIM/MTHU057697
http://purl.bioontology.org/ontology/OMIM/MTHU057696
http://purl.bioontology.org/ontology/OMIM/MTHU048326
http://purl.bioontology.org/ontology/OMIM/MTHU057693
http://purl.bioontology.org/ontology/OMIM/MTHU036878
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tui
T047
Gene Locus
1p36
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617337
Semantic type UMLS property
Has inheritance type
cui
C4310616
OMIM Entry Type
3
OMIM MimType Value
pound
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