cone-rod dystrophy 14
cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has material basis in mutation in GUCA1A on chromosome 6p21.1
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cone-rod dystrophy 14
Summary
cone-rod dystrophy 14 is a rare disease[1].
Key Facts
- cone-rod dystrophy 14's instance of is recorded as rare disease[2].
- cone-rod dystrophy 14's instance of is recorded as class of disease[3].
- cone-rod dystrophy 14's subclass of is recorded as cone-rod dystrophy[4].
- cone-rod dystrophy 14's MeSH descriptor ID is recorded as C566579[5].
- cone-rod dystrophy 14's OMIM ID is recorded as 602093[6].
- cone-rod dystrophy 14's Disease Ontology ID is recorded as DOID:0080314[7].
- cone-rod dystrophy 14's genetic association is recorded as LOC118142757[8].
- cone-rod dystrophy 14's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080314[9].
- cone-rod dystrophy 14's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1871[10].
- cone-rod dystrophy 14's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1872[11].
- cone-rod dystrophy 14's exact match is recorded as http://identifiers.org/doid/DOID:0080314[12].
- cone-rod dystrophy 14's UMLS CUI is recorded as C1838190[13].
- cone-rod dystrophy 14's UMLS CUI is recorded as C2677463[14].
- cone-rod dystrophy 14's UMLS CUI is recorded as C1865869[15].
- cone-rod dystrophy 14's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- cone-rod dystrophy 14's Mondo ID is recorded as MONDO_0011193[17].
- cone-rod dystrophy 14's UniProt disease ID is recorded as DI-05820[18].