nephronophthisis 15
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q
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nephronophthisis 15
Summary
nephronophthisis 15 is a rare disease[1].
Key Facts
- nephronophthisis 15's instance of is recorded as rare disease[2].
- nephronophthisis 15's instance of is recorded as class of disease[3].
- nephronophthisis 15's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 15's OMIM ID is recorded as 614845[5].
- nephronophthisis 15's OMIM ID is recorded as 614845[6].
- nephronophthisis 15's Disease Ontology ID is recorded as DOID:0111123[7].
- nephronophthisis 15's genetic association is recorded as CEP164[8].
- nephronophthisis 15's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111123[9].
- nephronophthisis 15's exact match is recorded as http://identifiers.org/doid/DOID:0111123[10].
- nephronophthisis 15's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3156[11].
- nephronophthisis 15's UMLS CUI is recorded as C3541853[12].
- nephronophthisis 15's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- nephronophthisis 15's Mondo ID is recorded as MONDO_0013917[14].
- nephronophthisis 15's UniProt disease ID is recorded as DI-03538[15].