Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

fibular hypoplasia and complex brachydactyly
Synonyms

Du Pan syndrome

acromesomelic dysplasia-2B

Definitions

An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.

ID

http://purl.obolibrary.org/obo/DOID_0050790

created_by

lschriml

creation_date

2013-11-12T12:21:56Z

database_cross_reference

KEGG:H00467

MESH:C537931

MIM:228900

ORDO:2639

definition

An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.

disease has location

http://purl.obolibrary.org/obo/UBERON_0001474

has exact synonym

Du Pan syndrome

acromesomelic dysplasia-2B

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0050790

in_subset

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

label

fibular hypoplasia and complex brachydactyly

notation

DOID:0050790

prefLabel

fibular hypoplasia and complex brachydactyly

subClassOf

http://purl.obolibrary.org/obo/DOID_0080049

http://purl.obolibrary.org/obo/DOID_0050737

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