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 renal glomerulus morphology (HP:0000095)

Grandparent Node:
Nephritis (HP:0000123)

Parent Node:
Glomerulonephritis (HP:0000099)

..Starting node
..Membranous nephropathy (HP:0012578)

Term ID:

12578

Name:

Membranous nephropathy

Synonym:

Membranous glomerulonephritis

Definition:

A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.

Comments:

Reference:

HP:0012578

Genes and Diseases:

Child Nodes:

Sister Nodes:

Crescentic glomerulonephritis (HP:0008653)

Membranoproliferative glomerulonephritis (HP:0000793)

Minimal change glomerulonephritis (HP:0012579)

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:0012578	HP:0012578	Membranous nephropathy	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0012578	HP:0012578	Membranous nephropathy	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0012578	HP:0012578	Membranous nephropathy	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0012578	HP:0012578	Membranous nephropathy	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104

Genes (4) :FOXP3 JAK1 PRKCD SLC7A7

Diseases (4) :ORPHA:37042 OMIM:618999 OMIM:615559 ORPHA:470

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