Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 urinary electrolyte concentration (HP:0012591)

..Starting node
..Abnormal urine phosphate concentration (HP:0012599)

Term ID:

12599

Name:

Abnormal urine phosphate concentration

Synonym:

Definition:

An abnormal phosphate concentration in the urine.

Comments:

Reference:

HP:0012599

Genes and Diseases:

Child Nodes:

........

Renal phosphate wasting (HP:0000117)

........

Hyperphosphaturia (HP:0003109)

................... HP:0003239 Phosphoethanolaminuria

........

Hypophosphaturia (HP:0012365)

Sister Nodes:

Abnormal urine chloride concentration (HP:0012600)

Abnormal urine magnesium concentration (HP:0012607)

Abnormal urine potassium concentration (HP:0012598)

Abnormal urine sodium concentration (HP:0012603)

Abnormality of urine calcium concentration (HP:0011280)

Renal salt wasting (HP:0000127)

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:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets		51
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant		51
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1		47
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012599	HP:0012599	Abnormal urine phosphate concentration	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012599	HP:0003109	Hyperphosphaturia	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0012599	HP:0003109	Hyperphosphaturia	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0012599	HP:0003109	Hyperphosphaturia	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0012599	HP:0003109	Hyperphosphaturia	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0012599	HP:0003109	Hyperphosphaturia	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0012599	HP:0003109	Hyperphosphaturia	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0012599	HP:0000117	Renal phosphate wasting	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0012599	HP:0000117	Renal phosphate wasting	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0012599	HP:0003109	Hyperphosphaturia	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012599	HP:0003109	Hyperphosphaturia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012599	HP:0003109	Hyperphosphaturia	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0012599	HP:0000117	Renal phosphate wasting	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0012599	HP:0000117	Renal phosphate wasting	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0012599	HP:0003109	Hyperphosphaturia	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0012599	HP:0003109	Hyperphosphaturia	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.	2
HP:0012599	HP:0000117	Renal phosphate wasting	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0012599	HP:0000117	Renal phosphate wasting	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0012599	HP:0003109	Hyperphosphaturia	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0012599	HP:0003109	Hyperphosphaturia	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0012599	HP:0003109	Hyperphosphaturia	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0012599	HP:0012365	Hypophosphaturia	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent	16
HP:0012599	HP:0003109	Hyperphosphaturia	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040281 - Very frequent	51
HP:0012599	HP:0000117	Renal phosphate wasting	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0012599	HP:0000117	Renal phosphate wasting	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0012599	HP:0003109	Hyperphosphaturia	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0012599	HP:0000117	Renal phosphate wasting	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0012599	HP:0003109	Hyperphosphaturia	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0012599	HP:0003109	Hyperphosphaturia	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	138
HP:0012599	HP:0003109	Hyperphosphaturia	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	113
HP:0012599	HP:0000117	Renal phosphate wasting	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	HP:0040283 - Occasional	18
HP:0012599	HP:0003109	Hyperphosphaturia	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	196
HP:0012599	HP:0003109	Hyperphosphaturia	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0012599	HP:0000117	Renal phosphate wasting	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0012599	HP:0000117	Renal phosphate wasting	1	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0012599	HP:0003109	Hyperphosphaturia	1	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0012599	HP:0003109	Hyperphosphaturia	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	102
HP:0012599	HP:0003109	Hyperphosphaturia	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0012599	HP:0000117	Renal phosphate wasting	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0012599	HP:0000117	Renal phosphate wasting	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0012599	HP:0003109	Hyperphosphaturia	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0012599	HP:0003109	Hyperphosphaturia	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0012599	HP:0003109	Hyperphosphaturia	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0012599	HP:0003109	Hyperphosphaturia	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0012599	HP:0000117	Renal phosphate wasting	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0012599	HP:0003109	Hyperphosphaturia	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0012599	HP:0000117	Renal phosphate wasting	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0012599	HP:0000117	Renal phosphate wasting	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0012599	HP:0003109	Hyperphosphaturia	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0012599	HP:0000117	Renal phosphate wasting	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0012599	HP:0003109	Hyperphosphaturia	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0012599	HP:0003109	Hyperphosphaturia	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012599	HP:0003109	Hyperphosphaturia	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.

Genes (33) :ABCC6 ALDOB ATP7B CASR CDC73 CLCN5 COA8 CTNS DMP1 EHHADH ENPP1 FAM20A FGF23 GATM GCM2 GNAS HNF4A HRAS INPPL1 KRAS MEN1 NDUFAF6 NHERF1 NRAS OCRL PHEX PTH1R SLC2A2 SLC34A1 SLC34A3 SURF1 TRNN TRNS1

Diseases (34) :ORPHA:51608 OMIM:229600 OMIM:277900 OMIM:239200 ORPHA:99879 OMIM:300009 OMIM:300554 ORPHA:436271 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:289176 OMIM:615605 ORPHA:3337 OMIM:613312 ORPHA:1031 ORPHA:89937 OMIM:193100 ORPHA:562 OMIM:616026 OMIM:163200 OMIM:258480 OMIM:612287 OMIM:309000 OMIM:307800 ORPHA:89936 OMIM:156400 OMIM:227810 ORPHA:2088 ORPHA:157215 OMIM:616963 OMIM:612286 OMIM:241530 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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