Human Disease Ontology

Last uploaded: January 31, 2025
Preferred Name

brachydactyly type A1
Synonyms

BDA1

Farabee type brachydactyly

Definitions

A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.

ID

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

database_cross_reference

MESH:C537088

GARD:978

MIM:112500

ORDO:93388

definition
A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.
disease has location

http://purl.obolibrary.org/obo/UBERON_0001463

http://purl.obolibrary.org/obo/UBERON_0003631

http://purl.obolibrary.org/obo/UBERON_0002389

has exact synonym

BDA1

Farabee type brachydactyly

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0110964

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

brachydactyly type A1

notation

DOID:0110964

prefLabel

brachydactyly type A1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_0050581

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