Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Congenital stationary night blindness
Synonyms	Congenital essential nyctalopia
ID	http://www.limics.org/hrdo/rdfns#pat_id_923
ageOfDeath	Normal
ageOfOnset	Neonatal/infancy
altLabel	Congenital essential nyctalopia
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28night+blindness%5Bmh%5D+OR+Night+blindness%5BTi%5D%29+AND+%28congenital%5Bsh%5D+OR+congenital%5BTi%5D%29+AND+stationary
id_MeSH	C536122
id_MIM	163500 257270 300071 310500 610427 610444 610445 613216 613830 614565 615058
id_OMS	H53.6
id_Orpha	215
id_SNOMEDCT	232061009
id_UMLS	C0339535
inheritance	X-linked recessive Autosomal dominant Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_923
prefLabel	Congenital stationary night blindness
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.phoc.org.cn/pmo/class/PMO_00007318	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050534	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU068599	OMIM	LOOM
http://www.orpha.net/ORDO/Orphanet_215	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/232061009	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/HP_0007642	HP	LOOM
http://purl.obolibrary.org/obo/HP_0007642	UPHENO	LOOM
http://purl.bioontology.org/ontology/RCD/X00e4	RCD	LOOM
http://purl.obolibrary.org/obo/MONDO_0016293	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016293	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016293	DOVES	LOOM