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:
Renal insufficiency (HP:0000083)

Parent Node:
Chronic kidney disease (HP:0012622)

..Starting node
..Stage 4 chronic kidney disease (HP:0012626)

Term ID:

12626

Name:

Stage 4 chronic kidney disease

Synonym:

Stage 4 chronic kidney disease

Definition:

A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).

Comments:

Reference:

HP:0012626

Genes and Diseases:

Child Nodes:

Sister Nodes:

Stage 1 chronic kidney disease (HP:0012623)

Stage 2 chronic kidney disease (HP:0012624)

Stage 3 chronic kidney disease (HP:0012625)

Stage 5 chronic kidney disease (HP:0003774)

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:0012626	HP:0012626	Stage 4 chronic kidney disease	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040283 - Occasional	49

Genes (1) :PRPS1

Diseases (1) :ORPHA:411536

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