Ulnar hypoplasia with impaired intellectual development

Preferred Label : Ulnar hypoplasia with impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation; Ulnar hypoplasia with mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 276821;

Details

Origin ID

276821;

UMLS CUI

C1848650;

Currated CISMeF NLP mapping
- Ulna hypoplasia-intellectual disability syndrome [ORDO Disease]
- ulna hypoplasia with mental retardation [MeSH Supplementary Concept]
- ulnar hypoplasia with mental retardation [MeSH concept]
- ulnar hypoplasia with mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Absent fingernail [HPO term]
- Absent toenail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral ulnar hypoplasia [HPO term]
- Intellectual disability, profound [HPO term]
- Limitation of knee mobility [HPO term]
- Limited elbow movement [HPO term]
- Limited knee movement [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Ulna hypoplasia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ulnar hypoplasia with mental retardation [MeSH Supplementary Concept]
- ulnar hypoplasia with mental retardation [MeSH concept]

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