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 blood ion concentration (HP:0003111)

Parent Node:
Abnormal blood phosphate concentration (HP:0100529)

..Starting node
..Hypophosphatemia (HP:0002148)

Term ID:

2148

Name:

Hypophosphatemia

Synonym:

Hypophosphataemia; Low blood phosphate level

Definition:

An abnormally decreased phosphate concentration in the blood.

Comments:

Reference:

HP:0002148

Genes and Diseases:

Child Nodes:

........

Hypophosphatemic rickets (HP:0004912)

........

Transient hypophosphatemia (HP:0008285)

........

Renal hypophosphatemia (HP:0008732)

Sister Nodes:

Elevated plasma pyrophosphate (HP:0011864)

Hyperphosphatemia (HP:0002905)

obsolete Increased urine O-phosphoethanolamine level (HP:0410158)

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:0002148	HP:0002148	Hypophosphatemia	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0002148	HP:0002148	Hypophosphatemia	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0002148	HP:0002148	Hypophosphatemia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002148	HP:0002148	Hypophosphatemia	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0002148	HP:0002148	Hypophosphatemia	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0002148	HP:0002148	Hypophosphatemia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0002148	HP:0002148	Hypophosphatemia	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0002148	HP:0002148	Hypophosphatemia	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0002148	HP:0002148	Hypophosphatemia	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent	169
HP:0002148	HP:0002148	Hypophosphatemia	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent	169
HP:0002148	HP:0002148	Hypophosphatemia	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002148	HP:0002148	Hypophosphatemia	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002148	HP:0002148	Hypophosphatemia	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0002148	HP:0002148	Hypophosphatemia	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0002148	HP:0002148	Hypophosphatemia	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0002148	HP:0002148	Hypophosphatemia	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0002148	HP:0002148	Hypophosphatemia	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0002148	HP:0002148	Hypophosphatemia	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0002148	HP:0002148	Hypophosphatemia	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002148	HP:0002148	Hypophosphatemia	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002148	HP:0002148	Hypophosphatemia	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002148	HP:0002148	Hypophosphatemia	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002148	HP:0002148	Hypophosphatemia	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0002148	HP:0002148	Hypophosphatemia	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0002148	HP:0002148	Hypophosphatemia	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0002148	HP:0002148	Hypophosphatemia	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0002148	HP:0002148	Hypophosphatemia	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0002148	HP:0002148	Hypophosphatemia	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0002148	HP:0002148	Hypophosphatemia	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0002148	HP:0002148	Hypophosphatemia	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0002148	HP:0002148	Hypophosphatemia	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002148	HP:0002148	Hypophosphatemia	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0002148	HP:0002148	Hypophosphatemia	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0002148	HP:0002148	Hypophosphatemia	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040281 - Very frequent	51
HP:0002148	HP:0002148	Hypophosphatemia	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0002148	HP:0002148	Hypophosphatemia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0002148	HP:0002148	Hypophosphatemia	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0002148	HP:0002148	Hypophosphatemia	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0002148	HP:0002148	Hypophosphatemia	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0002148	HP:0002148	Hypophosphatemia	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0002148	HP:0002148	Hypophosphatemia	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0002148	HP:0002148	Hypophosphatemia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0002148	HP:0002148	Hypophosphatemia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002148	HP:0002148	Hypophosphatemia	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0002148	HP:0002148	Hypophosphatemia	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	HP:0040283 - Occasional	18
HP:0002148	HP:0002148	Hypophosphatemia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0002148	HP:0002148	Hypophosphatemia	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0002148	HP:0002148	Hypophosphatemia	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0002148	HP:0002148	Hypophosphatemia	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0002148	HP:0002148	Hypophosphatemia	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002148	HP:0002148	Hypophosphatemia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0002148	HP:0002148	Hypophosphatemia	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0002148	HP:0002148	Hypophosphatemia	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0002148	HP:0002148	Hypophosphatemia	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0002148	HP:0002148	Hypophosphatemia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0002148	HP:0002148	Hypophosphatemia	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002148	HP:0002148	Hypophosphatemia	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0002148	HP:0002148	Hypophosphatemia	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0002148	HP:0002148	Hypophosphatemia	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0002148	HP:0002148	Hypophosphatemia	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002148	HP:0002148	Hypophosphatemia	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0002148	HP:0002148	Hypophosphatemia	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0002148	HP:0002148	Hypophosphatemia	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0002148	HP:0002148	Hypophosphatemia	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0002148	HP:0002148	Hypophosphatemia	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0002148	HP:0002148	Hypophosphatemia	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional	415
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0002148	HP:0008285	Transient hypophosphatemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	48
HP:0002148	HP:0008732	Renal hypophosphatemia	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional	151
HP:0002148	HP:0008732	Renal hypophosphatemia	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	151
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002148	HP:0008285	Transient hypophosphatemia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0002148	HP:0008285	Transient hypophosphatemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0002148	HP:0008285	Transient hypophosphatemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002148	HP:0004912	Hypophosphatemic rickets	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1

Genes (46) :ABCC6 ALDOB AP2S1 CACNA1S CASR CDC73 CLCN5 CLCN7 COL4A3 CTNS CYP27B1 CYP2R1 CYP3A4 DMP1 EHHADH ENPP1 FAH FAM111A FAM20C FGF23 GABRA3 GATM GCM2 GNAS HNF4A HRAS INPPL1 KCNJ18 KRAS MEN1 NAB2 NDUFAF6 NHERF1 NRAS OCRL PHEX POLRMT PTH1R SLC2A2 SLC34A1 SLC34A3 SNX10 STAT6 TCIRG1 TNFSF11 VDR

Diseases (57) :OMIM:614473 ORPHA:51608 OMIM:229600 ORPHA:469 OMIM:600740 ORPHA:79102 OMIM:239200 ORPHA:99879 ORPHA:99880 ORPHA:143 OMIM:300009 OMIM:300554 OMIM:308990 ORPHA:667 OMIM:104200 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:619073 ORPHA:289176 OMIM:241520 ORPHA:3337 OMIM:208000 OMIM:613312 OMIM:276700 OMIM:127000 OMIM:259775 ORPHA:89937 OMIM:193100 OMIM:134600 ORPHA:562 OMIM:616026 ORPHA:263455 ORPHA:2874 OMIM:163200 OMIM:258480 ORPHA:2126 OMIM:618913 OMIM:612287 OMIM:300555 ORPHA:534 OMIM:307800 ORPHA:89936 OMIM:619743 OMIM:156400 OMIM:227810 ORPHA:2088 OMIM:613388 ORPHA:157215 OMIM:616963 OMIM:612286 OMIM:241530 ORPHA:93160 OMIM:277440

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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