Mondo Disease Ontology

Last uploaded: December 3, 2024

Preferred Name	acrocapitofemoral dysplasia
Synonyms	ACFD acrocapitofemoral dysplasia
Definitions	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
ID	http://purl.obolibrary.org/obo/MONDO_0011907
database_cross_reference	SCTID:720416007 icd11.foundation:687396416 UMLS:C1843096 MESH:C564334 OMIM:607778 DOID:0050604 Orphanet:63446 GARD:10605 MEDGEN:334681
definition	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
has_exact_synonym	acrocapitofemoral dysplasia
has_related_synonym	ACFD
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0011907
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	acrocapitofemoral dysplasia
notation	MONDO:0011907
prefLabel	acrocapitofemoral dysplasia
seeAlso	https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
skos_exactMatch	http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/687396416 http://identifiers.org/snomedct/720416007 https://omim.org/entry/607778 http://linkedlifedata.com/resource/umls/id/C1843096 http://identifiers.org/mesh/C564334 http://purl.obolibrary.org/obo/Orphanet_63446 http://purl.obolibrary.org/obo/DOID_0050604 http://identifiers.org/medgen/334681
treeView	http://purl.obolibrary.org/obo/MONDO_0019695 http://purl.obolibrary.org/obo/MONDO_0005516
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019695 http://purl.obolibrary.org/obo/MONDO_0005516

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0011907	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011907	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011907	EFO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050604	DOID	LOOM
rgo:27937	GAMUTS	LOOM
http://purl.org/skeletome/bonedysplasia#Acrocapitofemoral_dysplasia	BDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/720416007	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_607778	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/607778	OMIM	LOOM
http://identifiers.org/omim/607778	REXO	LOOM
http://identifiers.org/omim/607778	GEXO	LOOM
http://identifiers.org/omim/607778	RETO	LOOM
http://www.orpha.net/ORDO/Orphanet_63446	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/C564334	MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011907	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011907	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0011907	EFO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10825	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564334	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_0050604	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050604	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050604	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050604	FNS-H	LOOM