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 circulating hormone concentration (HP:0003117)

Grandparent Node:
Anterior hypopituitarism (HP:0000830)

Parent Node:
Decreased response to growth hormone stimulation test (HP:0000824)

..Starting node
..Secondary growth hormone deficiency (HP:0008240)

Term ID:

8240

Name:

Secondary growth hormone deficiency

Synonym:

Definition:

Comments:

Reference:

HP:0008240

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pituitary dwarfism (HP:0000839)

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:0008240	HP:0008240	Secondary growth hormone deficiency	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0008240	HP:0008240	Secondary growth hormone deficiency	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent

Genes (15) :AIP AKT1 BAP1 CDH23 GLI3 MEN1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (4) :ORPHA:2965 ORPHA:2495 ORPHA:91347 ORPHA:672

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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