Brachydactyly, type a1, b

Preferred Label : Brachydactyly, type a1, b;

Symbol : BDA1B;

CISMeF acronym : BDA1B;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and discussion of genetic heterogeneity of type A1 brachydactyly, see BDA1 (112500).;

Inheritance : Autosomal dominant;

Prefixed ID : %607004;

Détails

Origin ID

607004;

UMLS CUI

C1846949;

Automatic exact mappings (from CISMeF team)
- Brachydactyly type A1 [MeSH concept]
- brachydactyly type A1B [DO Concept]
Broader ORDO disease(s)
- Brachydactyly type A1 [ORDO Disease]
Currated CISMeF NLP mapping
- brachydactyly, type A1, B [MeSH concept]
- brachydactyly, type A1, B [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type A1B [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad distal hallux [HPO term]
- Clinodactyly [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Heterogeneous [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Radial deviation of finger [HPO term]
- Short 5th metacarpal [HPO term]
- Short distal phalanx of finger [HPO term]
- Short middle phalanx of finger [HPO term]
- Short stature [HPO term]
- Type A brachydactyly [HPO term]
ORDO concept(s)
- Brachydactyly type A1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- brachydactyly, type A1, B [MeSH Supplementary Concept]
- brachydactyly, type A1, B [MeSH concept]
Validated automatic mappings to NTBT
- brachydactyly type A1 [MeSH Supplementary Concept]

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