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 renal glomerulus morphology (HP:0000095)

Parent Node:
Abnormal glomerular mesangium morphology (HP:0001966)

..Starting node
..Diffuse mesangial sclerosis (HP:0001967)

Term ID:

1967

Name:

Diffuse mesangial sclerosis

Synonym:

Diffuse mesangial sclerosis glomerulopathy; Mesangial sclerosis

Definition:

Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.

Comments:

Reference:

HP:0001967

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesangial hypercellularity (HP:0012574)

Mesangiolysis (HP:0030762)

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:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	27
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	6
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	105
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	161
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	HP:0040283 - Occasional	39
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	35
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	12
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	135
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	59
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	241
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	69
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.	5
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.	5
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	39
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	118
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	2
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	107
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	177
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0001967	HP:0001967	Diffuse mesangial sclerosis	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10

Genes (41) :ACTN4 ADA ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA AVIL CD2AP COL4A3 COQ6 COQ8B CRB2 DAAM2 EMP2 GAPVD1 GON7 INF2 LAMB2 MAGI2 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PLCE1 PTPRO SGPL1 TBC1D8B TP53RK TRPC6 WDR73 WT1 YRDC

Diseases (19) :ORPHA:656 OMIM:102700 OMIM:615244 OMIM:618594 OMIM:614650 OMIM:619603 OMIM:609049 OMIM:256300 OMIM:618348 OMIM:616730 OMIM:616892 OMIM:617729 OMIM:610725 OMIM:617575 OMIM:617730 OMIM:251300 OMIM:194080 OMIM:256370 OMIM:619609

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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