X-linked cone-rod dystrophy 1
cone-rod dystrophy that has material basis in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11
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X-linked cone-rod dystrophy 1
Summary
X-linked cone-rod dystrophy 1 is a rare disease[1].
Key Facts
- X-linked cone-rod dystrophy 1's instance of is recorded as rare disease[2].
- X-linked cone-rod dystrophy 1's instance of is recorded as class of disease[3].
- X-linked cone-rod dystrophy 1's subclass of is recorded as cone-rod dystrophy[4].
- X-linked cone-rod dystrophy 1's OMIM ID is recorded as 304020[5].
- X-linked cone-rod dystrophy 1's Disease Ontology ID is recorded as DOID:0111008[6].
- X-linked cone-rod dystrophy 1's genetic association is recorded as RPGR[7].
- X-linked cone-rod dystrophy 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111008[8].
- X-linked cone-rod dystrophy 1's exact match is recorded as http://identifiers.org/doid/DOID:0111008[9].
- X-linked cone-rod dystrophy 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1872[10].
- X-linked cone-rod dystrophy 1's UMLS CUI is recorded as C1844777[11].
- X-linked cone-rod dystrophy 1's UMLS CUI is recorded as C1844776[12].
- X-linked cone-rod dystrophy 1's GARD rare disease ID is recorded as 10652[13].
- X-linked cone-rod dystrophy 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- X-linked cone-rod dystrophy 1's Mondo ID is recorded as MONDO_0010566[15].
- X-linked cone-rod dystrophy 1's UniProt disease ID is recorded as DI-00327[16].