Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Sickle cell - hemoglobin D disease
Synonyms	HbSD disease
ID	http://www.limics.org/hrdo/rdfns#pat_id_19636
ageOfOnset	Variable Variabile Variabel Variable Variable Variável Variable
altLabel	HbSD disease Malattia HbSD HbSD-Krankheit Enfermedad HbSD HbSD Doença HbSD
id_Medline	neant
id_OMS	D57.2
id_Orpha	251370
inheritance	Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv
patType	disease
prefixIRI	hrdo:pat_id_19636
prefLabel	Doença de células falciformes - hemoglobina D Sickle cell - hemoglobin D disease Derpanocitosi - emoglobinopatia D Drépanocytose - hémoglobinose D Drepanocitosis - enfermedad de la hemoglobina D Sichelzellenanämie - Hämoglobin-D-Krankheit
prevalence	Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_251370	EFO	LOOM
http://purl.obolibrary.org/obo/NCIT_C155310	BERO	LOOM
http://www.gamuts.net/entity#sickle_cell_hemoglobin_D_disease	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C155310	NCIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/25472008	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/DC-20420	SNMI	LOOM