Human Phenotype Ontology

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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 nephron morphology (HP:0012575)

Parent Node:
Abnormal renal tubule morphology (HP:0000091)

..Starting node
..Renotubular dysgenesis (HP:0008660)

Term ID:

8660

Name:

Renotubular dysgenesis

Synonym:

Renal tubular dysgenesis

Definition:

A developmental defect characterized by absence or poor development of proximal renal tubules.

Comments:

Reference:

HP:0008660

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal tubulointerstitial morphology (HP:0001969)

Proximal tubulopathy (HP:0000114)

Renal tubular atrophy (HP:0000092)

Renal tubular epithelial necrosis (HP:0008682)

Tubular basement membrane disintegration (HP:0005583)

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:0008660	HP:0008660	Renotubular dysgenesis	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0008660	HP:0008660	Renotubular dysgenesis	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0008660	HP:0008660	Renotubular dysgenesis	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0008660	HP:0008660	Renotubular dysgenesis	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25

Genes (4) :ACE AGT AGTR1 REN

Diseases (1) :OMIM:267430

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