nephronophthisis 13
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14
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nephronophthisis 13
Summary
nephronophthisis 13 is a rare disease[1].
Key Facts
- nephronophthisis 13's instance of is recorded as rare disease[2].
- nephronophthisis 13's instance of is recorded as class of disease[3].
- nephronophthisis 13's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 13's OMIM ID is recorded as 614377[5].
- nephronophthisis 13's OMIM ID is recorded as 614377[6].
- nephronophthisis 13's Disease Ontology ID is recorded as DOID:0111121[7].
- nephronophthisis 13's genetic association is recorded as WDR19[8].
- nephronophthisis 13's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111121[9].
- nephronophthisis 13's exact match is recorded as http://identifiers.org/doid/DOID:0111121[10].
- nephronophthisis 13's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[11].
- nephronophthisis 13's UMLS CUI is recorded as C3280612[12].
- nephronophthisis 13's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- nephronophthisis 13's Mondo ID is recorded as MONDO_0013718[14].
- nephronophthisis 13's UniProt disease ID is recorded as DI-03326[15].