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
..Minimal change glomerulonephritis (HP:0012579)

Term ID:

12579

Name:

Minimal change glomerulonephritis

Synonym:

Minimal change disease; Minimal change nephropathy

Definition:

The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.

Comments:

Reference:

HP:0012579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Crescentic glomerulonephritis (HP:0008653)

Membranoproliferative glomerulonephritis (HP:0000793)

Membranous nephropathy (HP:0012578)

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:0012579	HP:0012579	Minimal change glomerulonephritis	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	27
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	6
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	105
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	161
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	35
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	12
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10		4
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	135
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	59
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.	59
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	241
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	69
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	39
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	118
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	2
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	107
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	177
HP:0012579	HP:0012579	Minimal change glomerulonephritis	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46

Genes (37) :ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA CD2AP COL4A3 COQ8B CRB2 DAAM2 EMP2 GAPVD1 INF2 KANK2 KIRREL1 LAGE3 LMX1B MAGI2 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO SMARCAL1 TBC1D8B TRPC6 WT1 ZAP70

Diseases (11) :ORPHA:656 OMIM:615861 OMIM:617783 OMIM:619201 OMIM:301006 OMIM:256020 OMIM:617609 OMIM:618348 OMIM:616730 ORPHA:1830 OMIM:617006

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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