Experimental Factor Ontology

Last uploaded: October 15, 2024
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Preferred Name

acromesomelic dysplasia 2B
Synonyms

fibular aplasia-complex brachydactyly syndrome

acromesomelic dysplasia 2B

fibular hypoplasia and complex brachydactyly

Du Pan syndrome
ID

http://purl.obolibrary.org/obo/MONDO_0009231
database_cross_reference

SCTID:715474004

DOID:0050790

MEDGEN:346432

MESH:C537931

UMLS:C1856738

Orphanet:2639

OMIM:228900

GARD:9879
has_exact_synonym

acromesomelic dysplasia 2B

fibular hypoplasia and complex brachydactyly

Du Pan syndrome
has_related_synonym

fibular aplasia-complex brachydactyly syndrome
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4948
id

MONDO:0009231
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label

acromesomelic dysplasia 2B
notation

MONDO:0009231
preferred label

acromesomelic dysplasia 2B
prefLabel

acromesomelic dysplasia 2B
see also

https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly
skos_exactMatch

http://identifiers.org/medgen/346432

http://purl.obolibrary.org/obo/Orphanet_2639

https://omim.org/entry/228900

http://linkedlifedata.com/resource/umls/id/C1856738

http://identifiers.org/mesh/C537931

http://identifiers.org/snomedct/715474004

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

http://purl.obolibrary.org/obo/MONDO_0018234

http://purl.obolibrary.org/obo/MONDO_0019054

http://www.ebi.ac.uk/efo/EFO_1000017

http://purl.obolibrary.org/obo/MONDO_0019696
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