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 circulating calcium concentration (HP:0004363)

Grandparent Node:
Abnormal urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormality of urine calcium concentration (HP:0011280)

..Starting node
..Renal calcium wasting (HP:0012637)

Term ID:

12637

Name:

Renal calcium wasting

Synonym:

Kidney Ca wasting; Kidney Ca2+ wasting; Kidney calcium wasting; Renal Ca wasting; Renal Ca2+ wasting

Definition:

High urine calcium in the presence of hypocalcemia.

Comments:

Reference:

HP:0012637

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypercalciuria (HP:0002150)

Hypocalciuria (HP:0003127)

Reduced ratio of renal calcium clearance to creatinine clearance (HP:0003513)

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:0012637	HP:0012637	Renal calcium wasting	0	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040280 - Obligate	5
HP:0012637	HP:0012637	Renal calcium wasting	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0012637	HP:0012637	Renal calcium wasting	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42

Genes (3) :ADCY10 CLDN16 CLDN19

Diseases (3) :ORPHA:2197 OMIM:248250 OMIM:248190

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