Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hereditary glaucoma
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3563
ageOfDeath	Normal Normal Normal Normale Normal Normal Normal
ageOfOnset	Kindesalter Infanzia Childhood Infância Infancia Childhood Enfance
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glaucoma/cn%5Bmajr%5D+OR+%28glaucoma%5Bmajr%5D+AND+pigmentation+disorders%5Bmajr%5D%29
id_MIM	137700 137750 137760 231300 600975 601682 602429 603383 606657 606689 608695 608696 609745 609887 610535 611274 613085 613086 613100 615141
id_Orpha	359
inheritance	Autosómico recesivo Autosomal recessive Autosomal dominant Autosomique dominant Autossómica recessiva Autosomica recessiva Autosomal dominant Autosomica dominante Autosomal recessive Autosómico dominate Autosomal-dominant Autosomique récessif Autossómica dominante Autosomal-rezessiv
patType	morphological anomaly
prefixIRI	hrdo:pat_id_3563
prefLabel	Hereditary glaucoma Glaucome familial Glaucoma hereditario Glaucoma hereditário Glaucoma ereditario Glaukom, hereditäres
prevalence	Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018174	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018174	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018174	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0018174	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0018174	KTAO	LOOM