Human Phenotype Ontology

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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)

Grandparent Node:
Abnormal renal corpuscle morphology (HP:0031263)

Parent Node:
Abnormal renal glomerulus morphology (HP:0000095)

..Starting node
..Thin glomerular basement membrane (HP:0012577)

Term ID:

12577

Name:

Thin glomerular basement membrane

Synonym:

Definition:

Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.

Comments:

Reference:

HP:0012577

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal glomerular capillary morphology (HP:0025006)

Abnormal glomerular mesangium morphology (HP:0001966)

Glomerular basement membrane lamellation (HP:0030034)

Glomerular deposits (HP:0030949)

Glomerular endocapillary hypercellularity (HP:0025363)

Glomerular extracapillary hypercellularity (HP:0025364)

Glomerular sclerosis (HP:0000096)

Glomerulomegaly (HP:0030162)

Glomerulonephritis (HP:0000099)

Glomerulopathy (HP:0100820)

Lobular glomerulopathy (HP:0008636)

Multiple glomerular cysts (HP:0100611)

Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)

Thickened glomerular basement membrane (HP:0004722)

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:0012577	HP:0012577	Thin glomerular basement membrane	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0012577	HP:0012577	Thin glomerular basement membrane	0	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial	.	161
HP:0012577	HP:0012577	Thin glomerular basement membrane	0	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial	.	174

Genes (3) :ARHGDIA COL4A3 COL4A4

Diseases (2) :OMIM:615244 OMIM:141200

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

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