Link to this page
Mondo Disease Ontology
| Preferred Name | Gaucher disease type I | |
| Synonyms |
Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1 non-cerebral juvenile Gaucher disease acid Beta-glucosidase deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I GD I Gba deficiency |
|
| Definitions |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009265 |
|
| database_cross_reference |
DOID:0110957 NANDO:1200057 SCTID:62201009 GARD:2441 Orphanet:77259 MEDGEN:409531 UMLS:C1961835 OMIM:230800 NANDO:2201210
|
|
| definition |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
|
|
| has_exact_synonym |
non-cerebral juvenile Gaucher disease acid Beta-glucosidase deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I GD I Gba deficiency
|
|
| has_related_synonym |
Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1
|
|
| id |
MONDO:0009265
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
|
| label |
Gaucher disease type I
|
|
| notation |
MONDO:0009265
|
|
| prefLabel |
Gaucher disease type I
|
|
| skos_exactMatch |
http://identifiers.org/medgen/409531 http://purl.obolibrary.org/obo/Orphanet_77259 http://identifiers.org/snomedct/62201009 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0018150 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0018374 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018150 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0018374 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |