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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | Fanconi-Bickel syndrome | |
| Synonyms |
glycogenosis type XI glycogen storage disease XI glycogenosis, Fanconi type FBS |
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| Definitions |
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. glycogenosis type XI is a historical and now discouraged synonym. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070562 |
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| comment |
glycogenosis type XI is a historical and now discouraged synonym.
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| database_cross_reference |
NCI:C168998 MESH:D005198 UMLS_CUI:C3495427 GARD:2268 MIM:227810 ORDO:2088
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| definition |
A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.
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| has exact match |
NCI:C168998 MESH:D005198 UMLS_CUI:C3495427 GARD:2268 MIM:227810 ORDO:2088
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| has exact synonym |
glycogenosis type XI glycogen storage disease XI glycogenosis, Fanconi type FBS
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0070562
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| in_subset | ||
| label |
Fanconi-Bickel syndrome
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|
| notation |
DOID:0070562
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| prefLabel |
Fanconi-Bickel syndrome
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| subClassOf |
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