Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal tubulointerstitial morphology (HP:0001969)

Parent Node:
Tubulointerstitial nephritis (HP:0001970)

..Starting node
..Chronic tubulointerstitial nephritis (HP:0004743)

Term ID:

4743

Name:

Chronic tubulointerstitial nephritis

Synonym:

Definition:

Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.

Comments:

Reference:

HP:0004743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute tubulointerstitial nephritis (HP:0004729)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004743	HP:0004743	Chronic tubulointerstitial nephritis	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0004743	HP:0004743	Chronic tubulointerstitial nephritis	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95

Genes (2) :INVS WDR19

Diseases (2) :OMIM:602088 OMIM:614376

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.