nephronophthisis 12
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24
Press Enter · cited answer in seconds
0 sources
nephronophthisis 12
Summary
nephronophthisis 12 is a rare disease[1].
Key Facts
- nephronophthisis 12's instance of is recorded as rare disease[2].
- nephronophthisis 12's instance of is recorded as class of disease[3].
- nephronophthisis 12's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 12's OMIM ID is recorded as 613820[5].
- nephronophthisis 12's OMIM ID is recorded as 613820[6].
- nephronophthisis 12's Disease Ontology ID is recorded as DOID:0111119[7].
- nephronophthisis 12's genetic association is recorded as TTC21B[8].
- nephronophthisis 12's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111119[9].
- nephronophthisis 12's exact match is recorded as http://identifiers.org/doid/DOID:0111119[10].
- nephronophthisis 12's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[11].
- nephronophthisis 12's UMLS CUI is recorded as C3279203[12].
- nephronophthisis 12's UMLS CUI is recorded as C3151186[13].
- nephronophthisis 12's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- nephronophthisis 12's Mondo ID is recorded as MONDO_0013442[15].
- nephronophthisis 12's UniProt disease ID is recorded as DI-03051[16].