General Information
Term	nephronophthisis	ID (Ontology)	DOID:12712 (Human Disease)
Definition	A kidney 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).
Also Known As	"medullary cystic disease" ; "medullary cystic kidney"
Comment
Links to External Ontologies
	DO.org
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Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

nephronophthisis

ID (Ontology)

DOID:12712 (Human Disease)

Definition

A kidney 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).

Also Known As

"medullary cystic disease" ; "medullary cystic kidney"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

autosomal genetic disease
 |__autosomal recessive disease__
urinary system disease           |
 |__kidney disease_______________|
                                 nephronophthisis  10 rec.
                                  |__nephronophthisis 1
                                  |__nephronophthisis 2
                                  |__nephronophthisis 3
                                  |__nephronophthisis 4
                                  |__nephronophthisis 7 1 rec.
                                  |__nephronophthisis 9 1 rec.
                                  |__nephronophthisis 11 1 rec.
                                  |__nephronophthisis 12
                                  |__nephronophthisis 13 1 rec.
                                  |__nephronophthisis 14 1 rec.
                                  |__nephronophthisis 15 1 rec.
                                  |__nephronophthisis 16 1 rec.
                                  |__nephronophthisis 18
                                  |__nephronophthisis 19
                                  |__nephronophthisis 20 1 rec.
                                  |__nephronophthisis-like nephropathy 1 2 rec.

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Relationships
Is a	autosomal recessive disease kidney disease
Part of
Synonyms & Secondary IDs
Synonyms
	"medullary cystic disease" EXACT "medullary cystic kidney" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:206 ICD10CM:Q61.5 MIM:PS256100 NCI:C123200 ORDO:655 SNOMEDCT_US_2023_03_01:204958008 UMLS_CUI:C0687120

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

autosomal recessive disease
kidney disease

Part of

Synonyms & Secondary IDs

Synonyms

"medullary cystic disease" EXACT
"medullary cystic kidney" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:206
ICD10CM:Q61.5
MIM:PS256100
NCI:C123200
ORDO:655
SNOMEDCT_US_2023_03_01:204958008
UMLS_CUI:C0687120