Brachydactyly, type a2, with microcephaly

Preferred Label : Brachydactyly, type a2, with microcephaly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 211369;

Details

Origin ID

211369;

UMLS CUI

C1859393;

Currated CISMeF NLP mapping
- brachydactyly, type A2, with microcephaly [MeSH concept]
- brachydactyly, type A2, with microcephaly [MeSH Supplementary Concept]
HPO term(s)
- Absent middle phalanx of 2nd finger [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 2nd toe [HPO term]
- Diabetes mellitus [HPO term]
- Index fingers short with absent middle phalanges [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Thumbs hypoplastic with bulbous tips [HPO term]
- Type A2 brachydactyly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- brachydactyly, type A2, with microcephaly [MeSH Supplementary Concept]
- brachydactyly, type A2, with microcephaly [MeSH concept]

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