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 phosphate concentration (HP:0012599)

..Starting node
..Renal phosphate wasting (HP:0000117)

Term ID:

117

Name:

Renal phosphate wasting

Synonym:

Decreased renal tubular phosphate reabsorption; Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate; Tubular phosphate reabsorption low

Definition:

High urine phosphate in the presence of hypophosphatemia.

Comments:

Reference:

HP:0000117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperphosphaturia (HP:0003109)

Hypophosphaturia (HP:0012365)

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:0000117	HP:0000117	Renal phosphate wasting	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0000117	HP:0000117	Renal phosphate wasting	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0000117	HP:0000117	Renal phosphate wasting	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0000117	HP:0000117	Renal phosphate wasting	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0000117	HP:0000117	Renal phosphate wasting	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0000117	HP:0000117	Renal phosphate wasting	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0000117	HP:0000117	Renal phosphate wasting	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0000117	HP:0000117	Renal phosphate wasting	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0000117	HP:0000117	Renal phosphate wasting	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000117	HP:0000117	Renal phosphate wasting	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	HP:0040283 - Occasional	18
HP:0000117	HP:0000117	Renal phosphate wasting	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0000117	HP:0000117	Renal phosphate wasting	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0000117	HP:0000117	Renal phosphate wasting	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0000117	HP:0000117	Renal phosphate wasting	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0000117	HP:0000117	Renal phosphate wasting	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0000117	HP:0000117	Renal phosphate wasting	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0000117	HP:0000117	Renal phosphate wasting	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0000117	HP:0000117	Renal phosphate wasting	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52

Genes (14) :CLCN5 CTNS DMP1 EHHADH ENPP1 FGF23 GATM GNAS INPPL1 NDUFAF6 NHERF1 PHEX SLC34A1 SLC34A3

Diseases (14) :OMIM:300009 OMIM:300554 ORPHA:411634 ORPHA:289176 ORPHA:3337 OMIM:193100 ORPHA:562 OMIM:258480 OMIM:612287 OMIM:307800 ORPHA:89936 OMIM:616963 OMIM:612286 OMIM:241530

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

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