Zellweger Syndrome
Disease ID: disease_node_8124
Connections displayed (default: 10).
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| Dbxref | GARD:7917, ICD10CM:E71.510, MESH:D015211, NCI:C85239, ORDO:912, SNOMEDCT_US_2023_03_01:88469006, UMLS_CUI:C0043459 |
|---|---|
| Subclassof | DOID_0080377, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | cerebrohepatorenal syndrome, congenital iron overload |
| Mesh Id | D015211 |
| Mesh Label | Zellweger Syndrome |
| Mesh Subclassof | D020739, D008107, D018901, D000015, D007674 |
| Doid Label | Zellweger syndrome |
| Doid Description | A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_8124 |
| Doid Id | DOID_905 |
| Label | Zellweger Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Biogenesis Disorder(ID:disease_node_17504) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 3A(ID:disease_node_17514) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 5A(ID:disease_node_17512) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 7A(ID:disease_node_17510) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 13A(ID:disease_node_17505) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 2A(ID:disease_node_17515) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 8A(ID:disease_node_17509) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 4A(ID:disease_node_17513) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 10A(ID:disease_node_17508) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 1A(ID:disease_node_17516) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 12A(ID:disease_node_17506) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 6A(ID:disease_node_17511) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisome Biogenesis Disorder 11A(ID:disease_node_17507) (Disease)