nephronophthisis 3
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22
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nephronophthisis 3
Summary
nephronophthisis 3 is a rare disease[1].
Key Facts
- nephronophthisis 3's instance of is recorded as rare disease[2].
- nephronophthisis 3's instance of is recorded as class of disease[3].
- nephronophthisis 3's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 3's MeSH descriptor ID is recorded as C565780[5].
- nephronophthisis 3's OMIM ID is recorded as 604387[6].
- nephronophthisis 3's OMIM ID is recorded as 604387[7].
- nephronophthisis 3's Disease Ontology ID is recorded as DOID:0111114[8].
- nephronophthisis 3's genetic association is recorded as NPHP3[9].
- nephronophthisis 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111114[10].
- nephronophthisis 3's exact match is recorded as http://identifiers.org/doid/DOID:0111114[11].
- nephronophthisis 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[12].
- nephronophthisis 3's UMLS CUI is recorded as C1858392[13].
- nephronophthisis 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- nephronophthisis 3's Mondo ID is recorded as MONDO_0011456[15].
- nephronophthisis 3's UniProt disease ID is recorded as DI-00805[16].