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 enzyme/coenzyme activity (HP:0012379)

Parent Node:
Abnormality of alkaline phosphatase level (HP:0004379)

..Starting node
..Elevated circulating alkaline phosphatase concentration (HP:0003155)

Term ID:

3155

Name:

Elevated circulating alkaline phosphatase concentration

Synonym:

Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase

Definition:

Abnormally increased serum levels of alkaline phosphatase activity.

Comments:

Reference:

HP:0003155

Genes and Diseases:

Child Nodes:

........

Elevated leukocyte alkaline phosphatase (HP:0008318)

........

Elevated tissue non-specific alkaline phosphatase (HP:0010679)

................... HP:0010638 Elevated alkaline phosphatase of hepatic origin
................... HP:0010639 Elevated alkaline phosphatase of bone origin
................... HP:0010680 Elevated alkaline phosphatase of renal origin

........

Elevated intestinal alkaline phosphatase (HP:0010681)

........

Elevated placental alkaline phosphatase (HP:0010682)

Sister Nodes:

Low alkaline phosphatase (HP:0003282)

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:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional	102
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary		34
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young		138
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.	31
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	31
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	5
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	HP:0040283 - Occasional	1
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	20
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent	217
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	36
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	84
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	57
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	6
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional	2
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	HP:0040283 - Occasional	63
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2		47
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.	62
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040283 - Occasional	82
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent	63
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0003155	HP:0003155	Elevated circulating alkaline phosphatase concentration	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	.	2
HP:0003155	HP:0010681	Elevated intestinal alkaline phosphatase	1	CL E G H
HP:0003155	HP:0010682	Elevated placental alkaline phosphatase	1	CL E G H
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003155	HP:0008318	Elevated leukocyte alkaline phosphatase	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2		47
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0003155	HP:0010679	Elevated tissue non-specific alkaline phosphatase	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0003155	HP:0010680	Elevated alkaline phosphatase of renal origin	2	CL E G H
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0003155	HP:0010638	Elevated alkaline phosphatase of hepatic origin	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0003155	HP:0010638	Elevated alkaline phosphatase of hepatic origin	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0003155	HP:0010638	Elevated alkaline phosphatase of hepatic origin	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0003155	HP:0010638	Elevated alkaline phosphatase of hepatic origin	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0003155	HP:0010639	Elevated alkaline phosphatase of bone origin	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63

Genes (95) :ABCB11 ABCB4 ABCC6 ACVR1 AKR1D1 ASXL1 ATP8B1 BCS1L CBL CCDC115 CCDC47 CHEK2 CLCN7 COG4 COG6 CSF3R CTNS CYP27B1 CYP2R1 CYP3A4 CYP7B1 DCDC2 DMP1 ELMO2 ENPP1 ESR1 FAM20C FGF23 FKBP10 GPR35 HNF4A HNRNPA1 HNRNPA2B1 IL12A IL12RB1 IRF5 KIF12 LBR LRRK1 MMEL1 MST1 NPR3 NR1H4 PGAP2 PGAP3 PHEX PIGA PIGB PIGL PIGO PIGQ PIGS PIGV PIGW PIGY PKD2 PKHD1 PLEKHM1 POU2AF1 PRIM1 PRKCSH PTH1R RB1 RUNX1 SC5D SEMA4D SGMS2 SIK3 SLC25A13 SLC2A2 SLC34A1 SLC34A3 SLC37A4 SLC51A SOST SPIB SQSTM1 SRSF2 TCF4 TCIRG1 TET2 TMEM199 TMEM67 TNFRSF11A TNFRSF11B TNFSF15 TNPO3 TP53 TREX1 TRPV6 TTC26 USP53 VCP VDR ZNF687

Diseases (91) :OMIM:605479 OMIM:601847 ORPHA:69665 OMIM:600803 ORPHA:51608 OMIM:135100 OMIM:235555 ORPHA:79303 ORPHA:98850 OMIM:124000 OMIM:616828 OMIM:618268 ORPHA:668 ORPHA:210110 ORPHA:263501 OMIM:613489 OMIM:614576 OMIM:162830 ORPHA:411634 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:619073 OMIM:613812 ORPHA:79302 ORPHA:84081 ORPHA:289176 OMIM:606893 OMIM:613312 ORPHA:785 OMIM:259775 ORPHA:89937 OMIM:193100 OMIM:610968 ORPHA:171 OMIM:616026 ORPHA:263455 OMIM:615426 OMIM:615424 ORPHA:52430 OMIM:615422 ORPHA:186 OMIM:619662 OMIM:613471 OMIM:615198 OMIM:619543 OMIM:614207 ORPHA:247262 OMIM:615716 OMIM:307800 ORPHA:89936 OMIM:300868 OMIM:618580 OMIM:614749 OMIM:618548 OMIM:618143 OMIM:239300 OMIM:616025 OMIM:616809 OMIM:613095 ORPHA:53035 OMIM:620005 OMIM:174050 OMIM:600002 OMIM:156400 OMIM:607330 OMIM:126550 OMIM:618162 ORPHA:247598 ORPHA:2088 OMIM:227810 OMIM:613388 ORPHA:157215 OMIM:241530 OMIM:619525 OMIM:619484 OMIM:122860 OMIM:167250 OMIM:259700 OMIM:616829 OMIM:174810 OMIM:602080 OMIM:239000 ORPHA:247691 OMIM:618188 OMIM:619534 OMIM:619658 OMIM:167320 ORPHA:329475 OMIM:277440 OMIM:616833

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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