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
..Hyperphosphaturia (HP:0003109)

Term ID:

3109

Name:

Hyperphosphaturia

Synonym:

High urine phosphate levels; Phosphaturia

Definition:

An increased excretion of phosphates in the urine.

Comments:

Reference:

HP:0003109

Genes and Diseases:

Child Nodes:

........

Phosphoethanolaminuria (HP:0003239)

Sister Nodes:

Hypophosphaturia (HP:0012365)

Renal phosphate wasting (HP:0000117)

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:0003109	HP:0003109	Hyperphosphaturia	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0003109	HP:0003109	Hyperphosphaturia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0003109	HP:0003109	Hyperphosphaturia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0003109	HP:0003109	Hyperphosphaturia	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0003109	HP:0003109	Hyperphosphaturia	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0003109	HP:0003109	Hyperphosphaturia	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0003109	HP:0003109	Hyperphosphaturia	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0003109	HP:0003109	Hyperphosphaturia	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003109	HP:0003109	Hyperphosphaturia	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0003109	HP:0003109	Hyperphosphaturia	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0003109	HP:0003109	Hyperphosphaturia	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0003109	HP:0003109	Hyperphosphaturia	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0003109	HP:0003109	Hyperphosphaturia	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0003109	HP:0003109	Hyperphosphaturia	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0003109	HP:0003109	Hyperphosphaturia	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040281 - Very frequent	51
HP:0003109	HP:0003109	Hyperphosphaturia	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0003109	HP:0003109	Hyperphosphaturia	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0003109	HP:0003109	Hyperphosphaturia	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0003109	HP:0003109	Hyperphosphaturia	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	113
HP:0003109	HP:0003109	Hyperphosphaturia	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	196
HP:0003109	HP:0003109	Hyperphosphaturia	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0003109	HP:0003109	Hyperphosphaturia	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0003109	HP:0003109	Hyperphosphaturia	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	102
HP:0003109	HP:0003109	Hyperphosphaturia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0003109	HP:0003109	Hyperphosphaturia	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0003109	HP:0003109	Hyperphosphaturia	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0003109	HP:0003109	Hyperphosphaturia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0003109	HP:0003109	Hyperphosphaturia	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0003109	HP:0003109	Hyperphosphaturia	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0003109	HP:0003109	Hyperphosphaturia	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0003109	HP:0003109	Hyperphosphaturia	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0003109	HP:0003109	Hyperphosphaturia	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003109	HP:0003109	Hyperphosphaturia	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.

Genes (28) :ABCC6 ALDOB ATP7B CASR CDC73 CLCN5 COA8 CTNS DMP1 EHHADH ENPP1 FGF23 GCM2 GNAS HNF4A HRAS KRAS MEN1 NHERF1 NRAS OCRL PTH1R SLC2A2 SLC34A1 SLC34A3 SURF1 TRNN TRNS1

Diseases (24) :ORPHA:51608 OMIM:229600 OMIM:277900 OMIM:239200 ORPHA:99879 OMIM:300009 ORPHA:436271 OMIM:219800 ORPHA:411629 ORPHA:289176 OMIM:615605 OMIM:613312 ORPHA:89937 ORPHA:562 OMIM:616026 OMIM:163200 OMIM:612287 OMIM:309000 OMIM:156400 OMIM:227810 ORPHA:2088 ORPHA:157215 OMIM:612286 OMIM:220110

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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