Link to this page
Experimental Factor Ontology
| Preferred Name | Gaucher disease perinatal lethal | |
| Synonyms |
Gaucher disease, perinatal lethal Gaucher disease perinatal lethal fetal Gaucher disease Gaucher's disease perinatal lethal Gaucher disease collodion type Gaucher disease, collodion type perinatal lethal Gaucher disease foetal Gaucher disease Gaucher disease, perinatal-lethal form |
|
| Definitions |
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011945 |
|
| database_cross_reference |
SCTID:870313002 OMIM:608013 MESH:C564306 MEDGEN:374996 Orphanet:85212 DOID:0110960 UMLS:C1842704 GARD:10675
|
|
| definition |
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
|
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0110960 http://linkedlifedata.com/resource/umls/id/C1842704 http://www.orpha.net/ORDO/Orphanet_85212 http://identifiers.org/medgen/374996 |
|
| has_exact_synonym |
Gaucher disease, perinatal lethal Gaucher disease perinatal lethal fetal Gaucher disease Gaucher's disease perinatal lethal Gaucher disease collodion type Gaucher disease, collodion type perinatal lethal Gaucher disease foetal Gaucher disease Gaucher disease, perinatal-lethal form
|
|
| IAO_0000233 | ||
| id |
MONDO:0011945
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder |
|
| label |
Gaucher disease perinatal lethal
|
|
| notation |
MONDO:0011945
|
|
| preferred label |
Gaucher disease perinatal lethal
|
|
| prefLabel |
Gaucher disease perinatal lethal
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal |
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |