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
..Transient nephrotic syndrome (HP:0008695)

Term ID:

8695

Name:

Transient nephrotic syndrome

Synonym:

Transient nephrosis

Definition:

Comments:

Reference:

HP:0008695

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital nephrotic syndrome (HP:0008677)

Multidrug-resistant nephrotic syndrome (HP:0012589)

Steroid-resistant nephrotic syndrome (HP:0012588)

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:0008695	HP:0008695	Transient nephrotic syndrome	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27

Genes (1) :SLC35A2

Diseases (1) :ORPHA:356961

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