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 physiology (HP:0012211)

Parent Node:
Nephrotic syndrome (HP:0000100)

..Starting node
..Steroid-resistant nephrotic syndrome (HP:0012588)

Term ID:

12588

Name:

Steroid-resistant nephrotic syndrome

Synonym:

SRNS

Definition:

A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.

Comments:

Reference:

HP:0012588

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital nephrotic syndrome (HP:0008677)

Multidrug-resistant nephrotic syndrome (HP:0012589)

Transient nephrotic syndrome (HP:0008695)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9			12
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10			4
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		HP:0011463 - Childhood onset	5
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012588	HP:0012588	Steroid-resistant nephrotic syndrome	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5

Genes (14) :AVIL COQ6 CRB2 DAAM2 EMP2 KIRREL1 LAMA5 NUP133 NUP160 NUP205 NUP85 NUP93 SGPL1 TPRKB

Diseases (14) :OMIM:618594 OMIM:614650 OMIM:616220 OMIM:619263 OMIM:615861 OMIM:619201 OMIM:620049 OMIM:618177 OMIM:618178 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:617575 OMIM:617731

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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