Brachydactyly, type a1, C

Preferred Label : Brachydactyly, type a1, C;

Symbol : BDA1C;

CISMeF acronym : BDA1C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant (milder phenotype);

Molecular basis : Caused by mutation in the growth/differentiation factor-5 gene (GDF5, 601146.0020);

Prefixed ID : #615072;

Details

Origin ID

615072;

UMLS CUI

C3554446;

Automatic exact mappings (from CISMeF team)
- Brachydactyly type A1 [MeSH concept]
- GDF5 wt Allele [NCIt concept]
- brachydactyly type A1C [DO Concept]
DO Cross reference
- brachydactyly type A1C [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Brachydactyly [HPO term]
- Short distal phalanx of finger [HPO term]
- Short middle phalanx of the 2nd finger [HPO term]
- Short middle phalanx of the 3rd finger [HPO term]
- Short middle phalanx of the 4th finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Fibular hypoplasia [HPO term]
ORDO concept(s)
- Brachydactyly type A1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- brachydactyly type A1 [MeSH Supplementary Concept]

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