loading...| 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]. |
|
| database_cross_reference |
NCI:C4377 UMLS_CUI:C0015624 SNOMEDCT_US_2021_09_01:40488004 UMLS_CUI:C0341703 MESH:D005198 SNOMEDCT_US_2021_09_01:236468006 ORDO:3337 NCI:C3034 GARD:9118 OMIM:PS134600 |
|
| 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 exact match |
MESH:D005198 |
|
| has_alternative_id |
DOID:5956 |
|
| 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_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
|
| 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]. |
|
| prefLabel |
Fanconi syndrome |
|
| subClassOf |