Brachydactyly, type a1, D

Preferred Label : Brachydactyly, type a1, D;

Symbol : BDA1D;

CISMeF acronym : BDA1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type 1B bone morphogenetic protein receptor gene (BMPR1B, 603248.0008);

Prefixed ID : #616849;

Details

Origin ID

616849;

UMLS CUI

C4225183;

Automatic exact mappings (from CISMeF team)
- brachydactyly type A1D [DO Concept]
DO Cross reference
- brachydactyly type A1D [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type ib [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Poor motor coordination [HPO term]
- Short distal phalanx of the 2nd finger [HPO term]
- Short distal phalanx of the thumb [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short proximal phalanx of finger [HPO term]
- Short proximal phalanx of thumb [HPO term]
ORDO concept(s)
- Brachydactyly type A1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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