Gm1 Gangliosidosis Type 1
Disease ID: disease_node_20488
Connections displayed (default: 10).
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| Dbxref | GARD:6479, MIM:230500, ORDO:79255 |
|---|---|
| Subclassof | DOID_3322 |
| Data Source | DOID |
| Doid Label | GM1 gangliosidosis type 1 |
| Doid Description | A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. |
| Has Symptom | SYMP_0000047 |
| Disease Node Id | disease_node_20488 |
| Doid Id | DOID_0080502 |
| Label | Gm1 Gangliosidosis Type 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatosplenomegaly(ID:disease_node_20956) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Gangliosidosis, Gm1(ID:disease_node_8773) (Disease)