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:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Abnormal urine citrate concentration (HP:0012404)

..Starting node
..Hypocitraturia (HP:0012405)

Term ID:

12405

Name:

Hypocitraturia

Synonym:

Decreased urine citrate concentration

Definition:

A lower than normal concentration of citrate(3-) in the urine.

Comments:

Reference:

HP:0012405

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypercitraturia (HP:0012406)

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:0012405	HP:0012405	Hypocitraturia	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58

Genes (1) :CLDN16

Diseases (1) :OMIM:248250

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