Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

brachydactyly type A1B
Synonyms

BDA1B

Definitions

A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.

ID

http://purl.obolibrary.org/obo/DOID_0110974

database_cross_reference

MIM:607004

definition

A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.

has exact synonym

BDA1B

has_obo_namespace

disease_ontology

id

DOID:0110974

label

brachydactyly type A1B

notation

DOID:0110974

prefLabel

brachydactyly type A1B

subClassOf

http://purl.obolibrary.org/obo/DOID_0110964

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