nephronophthisis 11
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1
Press Enter · cited answer in seconds
0 sources
nephronophthisis 11
Summary
nephronophthisis 11 is a rare disease[1].
Key Facts
- nephronophthisis 11's instance of is recorded as rare disease[2].
- nephronophthisis 11's instance of is recorded as class of disease[3].
- nephronophthisis 11's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 11's subclass of is recorded as Senior-Boichis syndrome[5].
- nephronophthisis 11's OMIM ID is recorded as 613550[6].
- nephronophthisis 11's Disease Ontology ID is recorded as DOID:0111118[7].
- nephronophthisis 11's genetic association is recorded as TMEM67[8].
- nephronophthisis 11's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111118[9].
- nephronophthisis 11's exact match is recorded as http://identifiers.org/doid/DOID:0111118[10].
- nephronophthisis 11's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_84081[11].
- nephronophthisis 11's UMLS CUI is recorded as C3150796[12].
- nephronophthisis 11's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- nephronophthisis 11's Mondo ID is recorded as MONDO_0013302[14].
- nephronophthisis 11's UniProt disease ID is recorded as DI-02898[15].