loading...| Preferred Name | nephropathic cystinosis | |
| Synonyms |
CTNS Abderhalden-Kaufmann-Lignac syndrome cystinosis, atypical nephropathic cystinosis, nephropathic Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Lignac-Kaufmann disease |
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| Definitions |
An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100151 |
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| database_cross_reference |
MESH:C535335 UMLS:C2931187 NCIT:C129932 OMIM:219800 |
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| definition |
An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. |
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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C2931187 |
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| has_exact_synonym |
CTNS Abderhalden-Kaufmann-Lignac syndrome cystinosis, atypical nephropathic cystinosis, nephropathic Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Lignac-Kaufmann disease |
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| IAO_0000233 | ||
| id |
MONDO:0100151 |
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| in_subset | ||
| label |
nephropathic cystinosis |
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| notation |
MONDO:0100151 |
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| preferred label |
nephropathic cystinosis |
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| prefLabel |
nephropathic cystinosis |
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| subClassOf |