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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal calcium-phosphate regulating hormone level (HP:0100530)

..Starting node
..Elevated calcitonin (HP:0003528)

Term ID:

3528

Name:

Elevated calcitonin

Synonym:

Elevated calcitonin

Definition:

Comments:

Reference:

HP:0003528

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating parathyroid hormone level (HP:0031817)

Elevated circulating parathyroid hormone level (HP:0003165)

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:0003528	HP:0003528	Elevated calcitonin	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0003528	HP:0003528	Elevated calcitonin	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0003528	HP:0003528	Elevated calcitonin	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0003528	HP:0003528	Elevated calcitonin	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0003528	HP:0003528	Elevated calcitonin	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0003528	HP:0003528	Elevated calcitonin	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0003528	HP:0003528	Elevated calcitonin	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0003528	HP:0003528	Elevated calcitonin	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0003528	HP:0003528	Elevated calcitonin	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0003528	HP:0003528	Elevated calcitonin	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0003528	HP:0003528	Elevated calcitonin	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0003528	HP:0003528	Elevated calcitonin	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0003528	HP:0003528	Elevated calcitonin	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0003528	HP:0003528	Elevated calcitonin	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0003528	HP:0003528	Elevated calcitonin	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0003528	HP:0003528	Elevated calcitonin	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0003528	HP:0003528	Elevated calcitonin	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0003528	HP:0003528	Elevated calcitonin	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0003528	HP:0003528	Elevated calcitonin	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0003528	HP:0003528	Elevated calcitonin	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0003528	HP:0003528	Elevated calcitonin	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0003528	HP:0003528	Elevated calcitonin	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0003528	HP:0003528	Elevated calcitonin	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0003528	HP:0003528	Elevated calcitonin	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0003528	HP:0003528	Elevated calcitonin	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0003528	HP:0003528	Elevated calcitonin	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490

Genes (23) :CDKN1A CDKN1B CDKN2B CDKN2C DLST FH GNAS KIF1B MAX MDH2 MEN1 NF1 PDE4D PRKAR1A RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (7) :ORPHA:652 ORPHA:29072 ORPHA:79443 ORPHA:280651 OMIM:101800 OMIM:171400 OMIM:162300

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