nephronophthisis 7
nephronophthisis that has material basis in homozygous mutation in the GLIS2 gene on chromosome 16p13
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nephronophthisis 7
Summary
nephronophthisis 7 is a rare disease[1].
Key Facts
- nephronophthisis 7's instance of is recorded as rare disease[2].
- nephronophthisis 7's instance of is recorded as class of disease[3].
- nephronophthisis 7's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 7's MeSH descriptor ID is recorded as C566930[5].
- nephronophthisis 7's OMIM ID is recorded as 611498[6].
- nephronophthisis 7's OMIM ID is recorded as 611498[7].
- nephronophthisis 7's Disease Ontology ID is recorded as DOID:0111116[8].
- nephronophthisis 7's genetic association is recorded as GLIS2[9].
- nephronophthisis 7's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111116[10].
- nephronophthisis 7's exact match is recorded as http://identifiers.org/doid/DOID:0111116[11].
- nephronophthisis 7's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[12].
- nephronophthisis 7's UMLS CUI is recorded as C1969092[13].
- nephronophthisis 7's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- nephronophthisis 7's Mondo ID is recorded as MONDO_0012680[15].
- nephronophthisis 7's UniProt disease ID is recorded as DI-00807[16].