Brachydactyly, type a3

Preferred Label : Brachydactyly, type a3;

Symbol : BDA3;

CISMeF acronym : BDA3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brachymesophalangy V; BRACHYDACTYLY-CLINODACTYLY;

Inheritance : Autosomal dominant;

Prefixed ID : %112700;

Détails

Origin ID

112700;

UMLS CUI

C1862140;

Automatic exact mappings (from CISMeF team)
- Short middle phalanx of the 5th finger [HPO term]
Currated CISMeF NLP mapping
- Brachydactyly type A3 [ICD-11 More detail]
- Brachydactyly type A3 [MeSH concept]
- Brachydactyly type A3 [ORDO Disease]
- Brachydactyly type A3 (disorder) [SNOMED CT concept]
- brachydactyly type A3 [DO Concept]
- brachydactyly type A3 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A3 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cone-shaped epiphysis [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Rhomboid or triangular shaped 5th finger middle phalanx [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Type A brachydactyly [HPO term]
Not associated HPO term(s)
- Growth abnormality [HPO term]
ORDO concept(s)
- Brachydactyly type A3 [ORDO Disease]
See also inter- (CISMeF)
- brachydactyly type A2 [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A3 [ORDO Disease]
- Brachydactyly type A3 [MeSH concept]
- Brachydactyly type A3 [ICD-11 More detail]
- Brachydactyly type A3 (disorder) [SNOMED CT concept]
- brachydactyly type A3 [MeSH Supplementary Concept]
- brachydactyly type A3 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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