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DO Term : brachydactyly type A6 [DOID:0110968] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions.

synonyms:
BDA6,
ORDO:93382,
brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities,
SNOMEDCT_US_2023_03_01:715722003,
Osebold-Remondini syndrome,
UMLS_CUI:C1862130,
OMIM:112910,
GARD:983,
MESH:C537092,
112910

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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