nephronophthisis 2
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31
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nephronophthisis 2
Summary
nephronophthisis 2 is a rare disease[1].
Key Facts
- nephronophthisis 2's instance of is recorded as rare disease[2].
- nephronophthisis 2's instance of is recorded as class of disease[3].
- nephronophthisis 2's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 2's MeSH descriptor ID is recorded as C566582[5].
- nephronophthisis 2's OMIM ID is recorded as 602088[6].
- nephronophthisis 2's OMIM ID is recorded as 602088[7].
- nephronophthisis 2's Disease Ontology ID is recorded as DOID:0111113[8].
- nephronophthisis 2's genetic association is recorded as INVS[9].
- nephronophthisis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111113[10].
- nephronophthisis 2's exact match is recorded as http://identifiers.org/doid/DOID:0111113[11].
- nephronophthisis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[12].
- nephronophthisis 2's UMLS CUI is recorded as C1865872[13].
- nephronophthisis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- nephronophthisis 2's Mondo ID is recorded as MONDO_0011190[15].
- nephronophthisis 2's UniProt disease ID is recorded as DI-00804[16].