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loading...| Preferred Name |
peroxisome biogenesis disorder 1B |
| Definitions |
A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. |
| ID |
http://purl.obolibrary.org/obo/DOID_0081240 |
| database_cross_reference |
OMIM:601539 |
| definition |
A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0081240 |
| label |
peroxisome biogenesis disorder 1B |
| notation |
DOID:0081240 |
| prefLabel |
peroxisome biogenesis disorder 1B |
| subClassOf |
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