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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Zellweger syndrome | |
| Synonyms |
cerebrohepatorenal syndrome congenital iron overload |
|
| Definitions |
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_905 |
|
| comment |
OMIM mapping confirmed by DO. [LS].
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
cerebrohepatorenal syndrome congenital iron overload
|
|
| database_cross_reference |
MESH:D015211 SNOMEDCT_US_2023_03_01:88469006 UMLS_CUI:C0043459 ICD10CM:E71.510 GARD:7917 NCI:C85239 ORDO:912
|
|
| definition |
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual 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].
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|
| has exact synonym |
cerebrohepatorenal syndrome congenital iron overload
|
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:905
|
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Zellweger syndrome
|
|
| notation |
DOID:905
|
|
| note |
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual 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].
|
|
| preferred label |
Zellweger syndrome
|
|
| prefLabel |
Zellweger syndrome
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| subClassOf |
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