loading...| Preferred Name |
GAUCHER DISEASE, TYPE III |
|
| Synonyms |
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/231000 |
|
| altLabel |
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GD3 GAUCHER DISEASE, TYPE IIIA GAUCHER DISEASE, TYPE IIIB GD III GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE GAUCHER DISEASE, NORRBOTTNIAN TYPE |
|
| cui |
C1856491 C0268251 C1856492 C1856493 |
|
| Gene Locus |
1q21 |
|
| Gene Symbol |
GBA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012808 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU012810 http://purl.bioontology.org/ontology/OMIM/MTHU012806 http://purl.bioontology.org/ontology/OMIM/MTHU012812 http://purl.bioontology.org/ontology/OMIM/MTHU012805 http://purl.bioontology.org/ontology/OMIM/MTHU012803 http://purl.bioontology.org/ontology/OMIM/MTHU008500 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU012804 http://purl.bioontology.org/ontology/OMIM/MTHU000628 http://purl.bioontology.org/ontology/OMIM/MTHU001236 http://purl.bioontology.org/ontology/OMIM/MTHU012811 http://purl.bioontology.org/ontology/OMIM/MTHU002604 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU012813 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU012807 http://purl.bioontology.org/ontology/OMIM/MTHU012809 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
231000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GAUCHER DISEASE, TYPE III |
|
| Scope Statement |
Subtype 3B comprises horizontal supranuclear gaze palsy and aggressive systemic disease [MISCELLANEOUS] Adult onset has been reported [MISCELLANEOUS] Onset usually in childhood (range infancy to late childhood) [MISCELLANEOUS] Subtype 3C (231005) comprises cardiovascular calcifications [MISCELLANEOUS] Caused by mutation in the acid beta-glucocerebrosidase gene (GBA, 606463.0001) [MOLECULAR BASIS] Subtype 3A comprises myoclonus and dementia [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] |
|
| tui |
T047 |