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:
Abnormal blood ion concentration (HP:0003111)

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

..Starting node
..Hyperphosphatemia (HP:0002905)

Term ID:

2905

Name:

Hyperphosphatemia

Synonym:

High blood phosphate levels

Definition:

An abnormally increased phosphate concentration in the blood.

Comments:

Reference:

HP:0002905

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated plasma pyrophosphate (HP:0011864)

Hypophosphatemia (HP:0002148)

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:0002905	HP:0002905	Hyperphosphatemia	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0002905	HP:0002905	Hyperphosphatemia	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0002905	HP:0002905	Hyperphosphatemia	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0002905	HP:0002905	Hyperphosphatemia	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002905	HP:0002905	Hyperphosphatemia	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002905	HP:0002905	Hyperphosphatemia	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0002905	HP:0002905	Hyperphosphatemia	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0002905	HP:0002905	Hyperphosphatemia	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0002905	HP:0002905	Hyperphosphatemia	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent	51
HP:0002905	HP:0002905	Hyperphosphatemia	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040281 - Very frequent	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	OMIM:603233	Pseudohypoparathyroidism, type IB	.	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0002905	HP:0002905	Hyperphosphatemia	0	GNAS-AS1 CL E G H	149775	24872	OMIM:603233	Pseudohypoparathyroidism, type IB	.	1
HP:0002905	HP:0002905	Hyperphosphatemia	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0002905	HP:0002905	Hyperphosphatemia	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0002905	HP:0002905	Hyperphosphatemia	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0002905	HP:0002905	Hyperphosphatemia	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0002905	HP:0002905	Hyperphosphatemia	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0002905	HP:0002905	Hyperphosphatemia	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0002905	HP:0002905	Hyperphosphatemia	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	.	16
HP:0002905	HP:0002905	Hyperphosphatemia	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0002905	HP:0002905	Hyperphosphatemia	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0002905	HP:0002905	Hyperphosphatemia	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0002905	HP:0002905	Hyperphosphatemia	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040281 - Very frequent	86
HP:0002905	HP:0002905	Hyperphosphatemia	0	STX16 CL E G H	8675	11431	OMIM:603233	Pseudohypoparathyroidism, type IB	.	86
HP:0002905	HP:0002905	Hyperphosphatemia	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002905	HP:0002905	Hyperphosphatemia	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0002905	HP:0002905	Hyperphosphatemia	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44

Genes (20) :CACNA1S CASR COX1 COX3 FAM111A GALNT3 GCM2 GNA11 GNAS GNAS-AS1 KL LPIN1 PDE4D PGAP2 PRKAR1A PTH RYR1 STX16 TBCE TNFRSF11B

Diseases (25) :ORPHA:423 ORPHA:428 OMIM:601198 ORPHA:99845 ORPHA:93325 OMIM:127000 OMIM:211900 ORPHA:2239 OMIM:618883 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:617994 ORPHA:280651 OMIM:614207 OMIM:101800 OMIM:146200 ORPHA:466650 OMIM:145600 OMIM:241410 ORPHA:2323 OMIM:239000

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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