Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Acromicric dysplasia
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_1289
ageOfOnset	Neonatal/infancy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acromicric
id_MeSH	C535662
id_MIM	102370
id_OMS	Q77.8
id_Orpha	969
id_SNOMEDCT	254090007
id_UMLS	C0265287
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_1289
prefLabel	Acromicric dysplasia
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111243	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111243	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111243	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111243	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111243	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111243	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535662	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_969	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/C535662	MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_102370	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007055	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007055	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007055	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007055	DOVES	LOOM
rgo:10286	GAMUTS	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254090007	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/X78Ai	RCD	LOOM
http://identifiers.org/omim/102370	REXO	LOOM
http://identifiers.org/omim/102370	GEXO	LOOM
http://identifiers.org/omim/102370	RETO	LOOM
http://purl.org/skeletome/bonedysplasia#Acromicric_dysplasia	BDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083854	MEDDRA	LOOM
http://purl.bioontology.org/ontology/OMIM/102370	OMIM	LOOM