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 urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormal urine chloride concentration (HP:0012600)

..Starting node
..Renal chloride wasting (HP:0012602)

Term ID:

12602

Name:

Renal chloride wasting

Synonym:

Kidney chloride wasting; Renal Cl wasting; Renal Cl- wasting

Definition:

High urine chloride in the presence of hypochloridemia.

Comments:

Reference:

HP:0012602

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperchloriduria (HP:0002914)

Hypochloriduria (HP:0012601)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012602	HP:0012602	Renal chloride wasting	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.