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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/614940
http://purl.bioontology.org/ontology/OMIM/614940
|
|---|---|
| Preferred Name | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
| Synonyms |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
HED
ECTD11A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
HED
ECTD11A
|
|---|---|
| prefLabel | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
| Gene Symbol |
ECTD11A
EDA3
EDARADD
ED3
ECTD11B
|
| notation | 614940
|
| Scope Statement | Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0002) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1q42.2-q43
|
| tui | T047
|
| cui | C3541517
|
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