loading...| Preferred Name | cystinosis | |
| Synonyms |
cystine storage disease |
|
| Definitions |
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1064 |
|
| alternative label |
cystine storage disease |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:62332007 NCI:C129932 UMLS_CUI:C2931187 MESH:D003554 GARD:6236 MIM:219750 MIM:219800 MIM:219900 ORDO:213 |
|
| definition |
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. |
|
| has exact synonym |
cystine storage disease |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1064 |
|
| in_subset | ||
| label |
cystinosis |
|
| notation |
DOID:1064 |
|
| note |
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. |
|
| preferred label |
cystinosis |
|
| prefLabel |
cystinosis |
|
| subClassOf |