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
..Congenital nephrotic syndrome (HP:0008677)

Term ID:

8677

Name:

Congenital nephrotic syndrome

Synonym:

Congenital nephrosis

Definition:

Nephrotic syndrome with onset within the first three months of life.

Comments:

Reference:

HP:0008677

Genes and Diseases:

Child Nodes:

Sister Nodes:

Multidrug-resistant nephrotic syndrome (HP:0012589)

Steroid-resistant nephrotic syndrome (HP:0012588)

Transient nephrotic syndrome (HP:0008695)

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:0008677	HP:0008677	Congenital nephrotic syndrome	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241

Genes (1) :NPHS1

Diseases (1) :OMIM:256300

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