Ectodermal dysplasia with impaired intellectual development and syndactyly

Preferred Label : Ectodermal dysplasia with impaired intellectual development and syndactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ectodermal dysplasia with mental retardation and syndactyly;

Inheritance : Autosomal recessive.;

Prefixed ID : 600906;

Details

Origin ID

600906;

UMLS CUI

C1833169;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia mental retardation syndactyly [MeSH concept]
- ectodermal dysplasia mental retardation syndactyly [MeSH Supplementary Concept]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 3-4 finger syndactyly [HPO term]
- Abnormal facial shape [HPO term]
- Abnormality of the ear [HPO term]
- Aplasia cutis congenita of scalp [HPO term]
- Aqueductal stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dental crowding [HPO term]
- Dry skin [HPO term]
- Ectodermal dysplasia [HPO term]
- Headache [HPO term]
- Hypohidrosis [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Long palpebral fissure [HPO term]
- Onychogryphosis of large toenails [HPO term]
- Onychogryposis of toenails [HPO term]
- Open mouth [HPO term]
- Shovel-shaped maxillary central incisors [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sporadic [HPO term]
- Subcapsular cataract [HPO term]
- Unusual facies [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia mental retardation syndactyly [MeSH concept]
- ectodermal dysplasia mental retardation syndactyly [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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