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loading...| Preferred Name |
Stargardt Disease |
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| Synonyms |
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| Definitions |
An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C85078 |
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| code |
C85078 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. |
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| in_subset | ||
| label |
Stargardt Disease |
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| Preferred_Name |
Stargardt Disease |
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| prefixIRI |
NCIT:C85078 |
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| prefLabel |
Stargardt Disease |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0271093 |
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| subClassOf |
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