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 nephron morphology (HP:0012575)

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

..Starting node
..Tubular basement membrane disintegration (HP:0005583)

Term ID:

5583

Name:

Tubular basement membrane disintegration

Synonym:

Disintegration of the tubular basement membrane

Definition:

DIsruption and breaking up of the basement membrane of the tubules of the kidney.

Comments:

Reference:

HP:0005583

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)

Renotubular dysgenesis (HP:0008660)

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:0005583	HP:0005583	Tubular basement membrane disintegration	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0005583	HP:0005583	Tubular basement membrane disintegration	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0005583	HP:0005583	Tubular basement membrane disintegration	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0005583	HP:0005583	Tubular basement membrane disintegration	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.	109

Genes (4) :MUC1 NPHP1 TMEM67 XPNPEP3

Diseases (4) :OMIM:174000 OMIM:256100 OMIM:613550 OMIM:613159

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