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:
Renal tubular dysfunction (HP:0000124)

..Starting node
..Renal tubular lysine transport defect (HP:0008272)

Term ID:

8272

Name:

Renal tubular lysine transport defect

Synonym:

Definition:

Comments:

Reference:

HP:0008272

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired histidine renal tubular absorption (HP:0008666)

Renal tubular acidosis (HP:0001947)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008272	HP:0008272	Renal tubular lysine transport defect	0	CL E G H

Genes (0) :

Diseases (0) :

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