Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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

alternative label

BDA1

Farabee type brachydactyly

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

note

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

preferred label

brachydactyly type A1

prefLabel

brachydactyly type A1

subClassOf

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

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

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