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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/219900
http://purl.bioontology.org/ontology/OMIM/219900
|
|---|---|
| Preferred Name | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
| Synonyms |
CYSTINOSIS, INTERMEDIATE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CYSTINOSIS, INTERMEDIATE
|
|---|---|
| prefLabel | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
|
| Gene Symbol | CTNS
|
| Scope Statement | Three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750) [MISCELLANEOUS]
Onset of symptoms usually between 12-15 years [MISCELLANEOUS]
Caused by mutation in the cystinosis gene (CTNS, 606272.0008) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui |
T047
T019
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| Gene Locus | 17p13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 219900
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268626
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |