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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/618180
http://purl.bioontology.org/ontology/OMIM/618180
Preferred Name

ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS
Synonyms
ECTD14
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ECTD14
prefLabel
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS
Gene Symbol
DFNB98
TSPEAR
STHAG10
ECTD14
C21orf29
notation
618180
Scope Statement
Variable facial dysmorphisms, depending on ethnic origin [MISCELLANEOUS]
Variable degree of scalp hypotrichosis [MISCELLANEOUS]
Caused by mutation in the thrombospondin-type laminin G domain and EAR repeats gene (TSPEAR, 612920.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU044757
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU007617
http://purl.bioontology.org/ontology/OMIM/MTHU070579
http://purl.bioontology.org/ontology/OMIM/MTHU007743
http://purl.bioontology.org/ontology/OMIM/MTHU062757
http://purl.bioontology.org/ontology/OMIM/MTHU062756
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU062760
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU030315
http://purl.bioontology.org/ontology/OMIM/MTHU000267
http://purl.bioontology.org/ontology/OMIM/MTHU004117
http://purl.bioontology.org/ontology/OMIM/MTHU036385
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU075932
http://purl.bioontology.org/ontology/OMIM/MTHU062761
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU062759
http://purl.bioontology.org/ontology/OMIM/MTHU000053
http://purl.bioontology.org/ontology/OMIM/MTHU001062
http://purl.bioontology.org/ontology/OMIM/MTHU002735
http://purl.bioontology.org/ontology/OMIM/MTHU070578
http://purl.bioontology.org/ontology/OMIM/MTHU075933
http://purl.bioontology.org/ontology/OMIM/MTHU011786
http://purl.bioontology.org/ontology/OMIM/MTHU036408
http://purl.bioontology.org/ontology/OMIM/MTHU062758
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
21q22.3
tui
T047
cui
C4748560
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