FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	acrocapitofemoral dysplasia
Synonyms
Definitions	An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
ID	http://purl.obolibrary.org/obo/DOID_0050604
definition	An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	acrocapitofemoral dysplasia
prefixIRI	DOID:0050604
prefLabel	acrocapitofemoral dysplasia
subClassOf	http://purl.obolibrary.org/obo/DOID_2256 http://purl.obolibrary.org/obo/DOID_0050737

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050604	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050604	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050604	DDSS	SAME_URI
http://purl.obolibrary.org/obo/DOID_0050604	NIFSTD	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	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