Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Geleophysic dysplasia
Synonyms	Geleophysic dwarfism
ID	http://www.limics.org/hrdo/rdfns#pat_id_2401
ageOfOnset	Childhood
altLabel	Geleophysic dwarfism
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Geleophysic+dysplasia%5Btw%5D+OR+Geleophysic+dwarfism%5Btw%5D
id_MeSH	C537677
id_MIM	231050 614185
id_OMS	Q87.1
id_Orpha	2623
inheritance	Autosomal dominant Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2401
prefLabel	Geleophysic dysplasia
prevalence	<1 / 1 000 000
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.bioontology.org/ontology/SNOMEDCT/28557005	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063361	MEDDRA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265287	OCHV	LOOM
http://purl.obolibrary.org/obo/MONDO_0000127	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0000127	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000127	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000127	DOVES	LOOM
http://purl.org/skeletome/bonedysplasia#Geleophysic_dysplasia	BDO	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A35	SNMI	LOOM
http://www.orpha.net/ORDO/Orphanet_2623	ORDO	LOOM
http://purl.bioontology.org/ontology/RCD/X78Aj	RCD	LOOM
rgo:12459	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111724	FNS-H	LOOM