Brachydactyly, type a2

Preferred Label : Brachydactyly, type a2;

Symbol : BDA2;

CISMeF acronym : BDA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mohr-wriedt type brachydactyly; Brachymesophalangy II;

Description : Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor 5 gene (GD5, 601146.0005); Caused by mutation in the bone morphogenetic protein 2 gene (BMP2, 112261.0001); Caused by mutation in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0001);

Prefixed ID : #112600;

Détails

Origin ID

112600;

UMLS CUI

C1832702;

Automatic exact mappings (from CISMeF team)
- BMP2 wt Allele [NCIt concept]
CISMeF manual mappings
- Brachydactyly type A2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactyly type A2 [ICD-11 More detail]
- Brachydactyly type A2 [MeSH concept]
- Brachydactyly type A2 [ORDO Disease]
- Type A2 brachydactyly [HPO term]
- brachydactyly type A2 [DO Concept]
- brachydactyly type A2 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A2 [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein 2 [OMIM gene]
- Bone morphogenetic protein receptor, type ib [OMIM gene]
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 5th finger [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Hallux valgus [HPO term]
- Medially deviated second toe [HPO term]
- Radial deviation of the 2nd finger [HPO term]
- Short 2nd finger [HPO term]
- Short hallux [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Triangular shaped middle phalanx of the 2nd finger [HPO term]
- Triangular shaped middle phalanx of the 5th finger [HPO term]
- Ulnar deviation of the 2nd finger [HPO term]
- short, broad laterally deviated halluces [HPO term]
ORDO concept(s)
- Brachydactyly type A2 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A2 [ORDO Disease]
- Brachydactyly type A2 [MeSH concept]
- Brachydactyly type A2 [ICD-11 More detail]
- Brachydactyly type A2 (disorder) [SNOMED CT concept]
- Type A2 brachydactyly [HPO term]
- brachydactyly type A2 [MeSH Supplementary Concept]
- brachydactyly type A2 [DO Concept]

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