nephronophthisis 19
nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22
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nephronophthisis 19
Summary
nephronophthisis 19 is a rare disease[1].
Key Facts
- nephronophthisis 19's instance of is recorded as rare disease[2].
- nephronophthisis 19's instance of is recorded as class of disease[3].
- nephronophthisis 19's subclass of is recorded as nephronophthisis[4].
- nephronophthisis 19's OMIM ID is recorded as 616217[5].
- nephronophthisis 19's Disease Ontology ID is recorded as DOID:0111126[6].
- nephronophthisis 19's genetic association is recorded as DCDC2[7].
- nephronophthisis 19's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111126[8].
- nephronophthisis 19's exact match is recorded as http://identifiers.org/doid/DOID:0111126[9].
- nephronophthisis 19's UMLS CUI is recorded as C4015542[10].
- nephronophthisis 19's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
- nephronophthisis 19's Mondo ID is recorded as MONDO_0014537[12].
- nephronophthisis 19's UniProt disease ID is recorded as DI-04336[13].