Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Elevated circulating alkaline phosphatase concentration (HP:0003155)

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

..Starting node
..Elevated alkaline phosphatase of bone origin (HP:0010639)

Term ID:

10639

Name:

Elevated alkaline phosphatase of bone origin

Synonym:

Elevated alkaline phosphatase of bone origin; Elevated ALP of bone origin; Increased serum bone-specific alkaline phosphatase

Definition:

An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

Comments:

Reference:

HP:0010639

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated alkaline phosphatase of hepatic origin (HP:0010638)

Elevated alkaline phosphatase of renal origin (HP:0010680)

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:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0010639	HP:0010639	Elevated alkaline phosphatase of bone origin	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

Genes (11) :ABCC6 CCDC115 CTNS CYP27B1 CYP2R1 DMP1 ENPP1 NPR3 SLC34A1 SLC34A3 VCP

Diseases (9) :ORPHA:51608 OMIM:616828 ORPHA:411634 ORPHA:289157 ORPHA:289176 OMIM:619543 OMIM:613388 ORPHA:157215 OMIM:167320

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen