Preferred Name |
nephronophthisis |
|
Synonyms |
|
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
|
ID |
http://purl.obolibrary.org/obo/DOID_12712 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
definition |
An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
|
hasDbXref |
OMIM:602088 ORDO:655 OMIM:613824 OMIM:614845 OMIM:616217 OMIM:611498 OMIM:614844 OMIM:613550 OMIM:613820 OMIM:256100 UMLS_CUI:C0687120 OMIM:615382 OMIM:615862 SNOMEDCT_US_2016_03_01:204958008 OMIM:614377 OMIM:613159 SNOMEDCT_US_2016_03_01:204961009 OMIM:606966 OMIM:604387 ICD10CM:Q61.5 NCI:C123200 |
|
hasExactSynonym |
medullary cystic kidney medullary cystic disease |
|
hasOBONamespace |
disease_ontology |
|
id |
DOID:12712 |
|
imported from | ||
inSubset | ||
label |
nephronophthisis |
|
prefixIRI |
DOID:12712 |
|
prefLabel |
nephronophthisis |
|
subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.