renal-hepatic-pancreatic dysplasia 2

renal-hepatic-pancreatic dysplasia 2

http://purl.obolibrary.org/obo/MONDO_0014174

Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: renal-hepatic-pancreatic dysplasia caused by mutation in NEK8 renal-hepatic-pancreatic dysplasia 2 NEK8 renal-hepatic-pancreatic dysplasia renal-hepatic-pancreatic dysplasia type 2

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C3809434 (OMIM:615415)
OMIM:615415 (MONDO:equivalentTo)
GARD:18432 (OMIM:615415)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/615415

http://linkedlifedata.com/resource/umls/id/C3809434

has related synonym

RHPD2

MONDO:0014174

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014174

Term relations

Subclass of:

renal-hepatic-pancreatic dysplasia