Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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
altLabel	ACFD acrocapitofemoral dysplasia
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
label	acrocapitofemoral dysplasia
prefixIRI	MONDO:0011907
prefLabel	acrocapitofemoral dysplasia
seeAlso	https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
textual definition	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019695 http://purl.obolibrary.org/obo/MONDO_0005516

Delete	Subject	Author	Type	Created
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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	MONDO	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	MONDO	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