nephronophthisis-like nephropathy 1
nephronophthisis that has material basis in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2
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Summary
nephronophthisis-like nephropathy 1 is a rare disease[1].
Key Facts
- nephronophthisis-like nephropathy 1's instance of is recorded as rare disease[2].
- nephronophthisis-like nephropathy 1's instance of is recorded as class of disease[3].
- nephronophthisis-like nephropathy 1's subclass of is recorded as nephronophthisis[4].
- nephronophthisis-like nephropathy 1's OMIM ID is recorded as 613159[5].
- nephronophthisis-like nephropathy 1's OMIM ID is recorded as 613159[6].
- nephronophthisis-like nephropathy 1's Disease Ontology ID is recorded as DOID:0111117[7].
- nephronophthisis-like nephropathy 1's genetic association is recorded as XPNPEP3[8].
- nephronophthisis-like nephropathy 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111117[9].
- nephronophthisis-like nephropathy 1's exact match is recorded as http://identifiers.org/doid/DOID:0111117[10].
- nephronophthisis-like nephropathy 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_655[11].
- nephronophthisis-like nephropathy 1's UMLS CUI is recorded as C3150419[12].
- nephronophthisis-like nephropathy 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- nephronophthisis-like nephropathy 1's Mondo ID is recorded as MONDO_0013163[14].
- nephronophthisis-like nephropathy 1's UniProt disease ID is recorded as DI-02901[15].