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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal blood ion concentration (HP:0003111)

..Starting node
..Abnormal blood phosphate concentration (HP:0100529)

Term ID:

100529

Name:

Abnormal blood phosphate concentration

Synonym:

Abnormality of phosphate homeostasis

Definition:

An abnormality of phosphate homeostasis or concentration in the body.

Comments:

Reference:

HP:0100529

Genes and Diseases:

Child Nodes:

........

Hypophosphatemia (HP:0002148)

................... HP:0004912 Hypophosphatemic rickets
................... HP:0008285 Transient hypophosphatemia
................... HP:0008732 Renal hypophosphatemia

........

Hyperphosphatemia (HP:0002905)

........

Elevated plasma pyrophosphate (HP:0011864)

........

Increased level of O-phosphoethanolamine in urine (HP:0410158)

Sister Nodes:

Abnormal blood cation concentration (HP:0010929)

Abnormal blood chloride concentration (HP:0011422)

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:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive		48
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets		51
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant		51
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1		86
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB		1
HP:0100529	HP:0100529	Abnormal blood 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:0100529	HP:0100529	Abnormal blood phosphate concentration	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3		8
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2		47
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1		47
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB		86
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0100529	HP:0100529	Abnormal blood phosphate concentration	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0100529	HP:0002148	Hypophosphatemia	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0100529	HP:0002148	Hypophosphatemia	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0100529	HP:0002148	Hypophosphatemia	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0100529	HP:0002148	Hypophosphatemia	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0100529	HP:0011864	Elevated plasma pyrophosphate	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0100529	HP:0011864	Elevated plasma pyrophosphate	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0100529	HP:0002148	Hypophosphatemia	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0100529	HP:0002905	Hyperphosphatemia	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0100529	HP:0002148	Hypophosphatemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0100529	HP:0002905	Hyperphosphatemia	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0100529	HP:0002148	Hypophosphatemia	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0100529	HP:0002905	Hyperphosphatemia	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0100529	HP:0002148	Hypophosphatemia	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0100529	HP:0002148	Hypophosphatemia	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent	169
HP:0100529	HP:0002148	Hypophosphatemia	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent	169
HP:0100529	HP:0002148	Hypophosphatemia	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0100529	HP:0002148	Hypophosphatemia	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0100529	HP:0002148	Hypophosphatemia	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0100529	HP:0002148	Hypophosphatemia	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0100529	HP:0002148	Hypophosphatemia	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0100529	HP:0002905	Hyperphosphatemia	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0100529	HP:0002905	Hyperphosphatemia	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0100529	HP:0002148	Hypophosphatemia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0100529	HP:0002148	Hypophosphatemia	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0100529	HP:0002148	Hypophosphatemia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0100529	HP:0002148	Hypophosphatemia	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0100529	HP:0002148	Hypophosphatemia	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0100529	HP:0002148	Hypophosphatemia	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0100529	HP:0002148	Hypophosphatemia	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0100529	HP:0002148	Hypophosphatemia	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0100529	HP:0002148	Hypophosphatemia	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0100529	HP:0002148	Hypophosphatemia	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0100529	HP:0002148	Hypophosphatemia	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0100529	HP:0002148	Hypophosphatemia	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0100529	HP:0002148	Hypophosphatemia	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0100529	HP:0002148	Hypophosphatemia	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0100529	HP:0002148	Hypophosphatemia	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0100529	HP:0002148	Hypophosphatemia	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0100529	HP:0002905	Hyperphosphatemia	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0100529	HP:0002905	Hyperphosphatemia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0100529	HP:0002148	Hypophosphatemia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0100529	HP:0002148	Hypophosphatemia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0100529	HP:0002148	Hypophosphatemia	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040281 - Very frequent	51
HP:0100529	HP:0002148	Hypophosphatemia	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0100529	HP:0002148	Hypophosphatemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0100529	HP:0002905	Hyperphosphatemia	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0100529	HP:0002148	Hypophosphatemia	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0100529	HP:0002148	Hypophosphatemia	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0100529	HP:0002148	Hypophosphatemia	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0100529	HP:0002905	Hyperphosphatemia	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent	51
HP:0100529	HP:0002905	Hyperphosphatemia	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0100529	HP:0002148	Hypophosphatemia	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0100529	HP:0002905	Hyperphosphatemia	1	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0100529	HP:0002148	Hypophosphatemia	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0100529	HP:0002148	Hypophosphatemia	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0100529	HP:0002148	Hypophosphatemia	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100529	HP:0002148	Hypophosphatemia	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0100529	HP:0002148	Hypophosphatemia	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	HP:0040283 - Occasional	18
HP:0100529	HP:0002148	Hypophosphatemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0100529	HP:0002905	Hyperphosphatemia	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0100529	HP:0002148	Hypophosphatemia	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0100529	HP:0002905	Hyperphosphatemia	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0100529	HP:0002148	Hypophosphatemia	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0100529	HP:0002148	Hypophosphatemia	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0100529	HP:0002148	Hypophosphatemia	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100529	HP:0002148	Hypophosphatemia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0100529	HP:0002148	Hypophosphatemia	1	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0100529	HP:0002148	Hypophosphatemia	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0100529	HP:0002148	Hypophosphatemia	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0100529	HP:0002148	Hypophosphatemia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0100529	HP:0002905	Hyperphosphatemia	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0100529	HP:0002905	Hyperphosphatemia	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0100529	HP:0002148	Hypophosphatemia	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0100529	HP:0002148	Hypophosphatemia	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0100529	HP:0002148	Hypophosphatemia	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0100529	HP:0002905	Hyperphosphatemia	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0100529	HP:0002905	Hyperphosphatemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0100529	HP:0002905	Hyperphosphatemia	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0100529	HP:0002148	Hypophosphatemia	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0100529	HP:0002905	Hyperphosphatemia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0100529	HP:0002905	Hyperphosphatemia	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0100529	HP:0002905	Hyperphosphatemia	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0100529	HP:0002148	Hypophosphatemia	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0100529	HP:0002148	Hypophosphatemia	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0100529	HP:0002148	Hypophosphatemia	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma		1
HP:0100529	HP:0002905	Hyperphosphatemia	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0100529	HP:0002905	Hyperphosphatemia	1	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0100529	HP:0002905	Hyperphosphatemia	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0100529	HP:0002905	Hyperphosphatemia	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0100529	HP:0002148	Hypophosphatemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0100529	HP:0002905	Hyperphosphatemia	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0100529	HP:0002148	Hypophosphatemia	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0100529	HP:0002148	Hypophosphatemia	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0100529	HP:0002148	Hypophosphatemia	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional	415
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0100529	HP:0008285	Transient hypophosphatemia	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0100529	HP:0008732	Renal hypophosphatemia	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	48
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.	48
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional	151
HP:0100529	HP:0008732	Renal hypophosphatemia	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate	151
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0100529	HP:0008285	Transient hypophosphatemia	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0100529	HP:0008285	Transient hypophosphatemia	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0100529	HP:0008285	Transient hypophosphatemia	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0100529	HP:0004912	Hypophosphatemic rickets	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1

Genes (62) :ABCC6 ALDOB ALPL AP2S1 CACNA1S CASR CDC73 CLCN5 CLCN7 COL4A3 COX1 COX3 CTNS CYP27B1 CYP2R1 CYP3A4 DMP1 EHHADH ENPP1 FAH FAM111A FAM20C FGF23 GABRA3 GALNT3 GATM GCM2 GNA11 GNAS GNAS-AS1 HNF4A HRAS INPPL1 KCNJ18 KL KRAS LPIN1 MEN1 NAB2 NDUFAF6 NHERF1 NRAS OCRL PDE4D PGAP2 PHEX POLRMT PRKAR1A PTH PTH1R RYR1 SLC2A2 SLC34A1 SLC34A3 SNX10 STAT6 STX16 TBCE TCIRG1 TNFRSF11B TNFSF11 VDR

Diseases (83) :OMIM:614473 ORPHA:51608 OMIM:229600 ORPHA:469 OMIM:241510 OMIM:241500 OMIM:600740 ORPHA:423 ORPHA:79102 ORPHA:428 OMIM:239200 OMIM:601198 ORPHA:99879 ORPHA:99880 ORPHA:143 OMIM:300009 OMIM:300554 OMIM:308990 ORPHA:667 OMIM:104200 ORPHA:99845 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 ORPHA:93325 OMIM:127000 OMIM:259775 ORPHA:89937 OMIM:193100 OMIM:211900 OMIM:134600 ORPHA:2239 OMIM:618883 ORPHA:562 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:616026 ORPHA:263455 ORPHA:2874 OMIM:163200 OMIM:258480 OMIM:617994 ORPHA:2126 OMIM:618913 OMIM:612287 OMIM:300555 ORPHA:534 ORPHA:280651 OMIM:614207 OMIM:307800 ORPHA:89936 OMIM:619743 OMIM:101800 OMIM:146200 OMIM:156400 ORPHA:466650 OMIM:145600 ORPHA:2088 OMIM:227810 OMIM:613388 ORPHA:157215 OMIM:616963 OMIM:612286 OMIM:241530 OMIM:241410 ORPHA:2323 OMIM:239000 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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