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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | Fanconi syndrome | |
| Synonyms |
Congenital Fanconi syndrome adult Fanconi syndrome Infantile nephropathic cystinosis Fanconi-de Toni syndrome adult Fanconi Anemia deToni Fanconi syndrome Fanconi-de-Toni syndrome Lignac-Fanconi syndrome De Toni-Fanconi syndrome |
|
| Definitions |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1062 |
|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
Congenital Fanconi syndrome adult Fanconi syndrome Infantile nephropathic cystinosis Fanconi-de Toni syndrome adult Fanconi Anemia deToni Fanconi syndrome Fanconi-de-Toni syndrome Lignac-Fanconi syndrome De Toni-Fanconi syndrome
|
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:40488004 MIM:PS134600 UMLS_CUI:C0341703 SNOMEDCT_US_2023_03_01:236468006 MESH:D005198 UMLS_CUI:C0015624 GARD:9118 NCI:C3034 NCI:C4377 ORDO:3337
|
|
| definition |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| has close match |
MESH:D005198
|
|
| has exact match |
MESH:D005198
|
|
| has exact synonym |
Congenital Fanconi syndrome adult Fanconi syndrome Infantile nephropathic cystinosis Fanconi-de Toni syndrome adult Fanconi Anemia deToni Fanconi syndrome Fanconi-de-Toni syndrome Lignac-Fanconi syndrome De Toni-Fanconi syndrome
|
|
| has_alternative_id |
DOID:5956
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:1062
|
|
| in_subset | ||
| label |
Fanconi syndrome
|
|
| notation |
DOID:1062
|
|
| note |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
Fanconi syndrome
|
|
| prefLabel |
Fanconi syndrome
|
|
| subClassOf |
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