Preferred Name

fibular hypoplasia and complex brachydactyly
Synonyms

acromesomelic dysplasia-2B

Du Pan syndrome

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

alternative label

acromesomelic dysplasia-2B

Du Pan syndrome

created by

lschriml

creation_date

2013-11-12T12:21:56Z

database_cross_reference

KEGG:H00467

MESH:C537931

OMIM: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

acromesomelic dysplasia-2B

Du Pan syndrome

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

note

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

preferred label

fibular hypoplasia and complex brachydactyly

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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