Hermanski-Pudlak Syndrome
Disease ID: disease_node_10905
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:6643, ICD10CM:E70.331, MESH:D022861, MIM:PS203300, NCI:C37261, ORDO:231531, ORDO:231537, ORDO:280663, ORDO:79430, SNOMEDCT_US_2023_03_01:60255003, UMLS_CUI:C0079504 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Mesh Id | D022861 |
| Mesh Label | Hermanski-Pudlak Syndrome |
| Mesh Subclassof | D010981, D025861, D016115 |
| Doid Label | Hermansky-Pudlak syndrome |
| Doid Description | A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_10905 |
| Doid Id | DOID_3753 |
| Label | Hermanski-Pudlak Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 1(ID:disease_node_20207) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 6(ID:disease_node_20203) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 5(ID:disease_node_20204) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 3(ID:disease_node_20206) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 4(ID:disease_node_20205) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 7(ID:disease_node_20202) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 8(ID:disease_node_20201) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hermansky-Pudlak Syndrome 9(ID:disease_node_20200) (Disease)