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:
Hypopituitarism (HP:0040075)

Parent Node:
Anterior hypopituitarism (HP:0000830)

..Starting node
..Gonadotropin deficiency (HP:0008213)

Term ID:

8213

Name:

Gonadotropin deficiency

Synonym:

Pituitary gonadotropin deficiency

Definition:

A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).

Comments:

Reference:

HP:0008213

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal prolactin level (HP:0040086)

Adrenocorticotropic hormone deficiency (HP:0011748)

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

Panhypopituitarism (HP:0000871)

Pituitary hypothyroidism (HP:0008245)

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:0008213	HP:0008213	Gonadotropin deficiency	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0008213	HP:0008213	Gonadotropin deficiency	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0008213	HP:0008213	Gonadotropin deficiency	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040280 - Obligate	23
HP:0008213	HP:0008213	Gonadotropin deficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0008213	HP:0008213	Gonadotropin deficiency	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0008213	HP:0008213	Gonadotropin deficiency	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0008213	HP:0008213	Gonadotropin deficiency	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0008213	HP:0008213	Gonadotropin deficiency	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0008213	HP:0008213	Gonadotropin deficiency	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0008213	HP:0008213	Gonadotropin deficiency	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0008213	HP:0008213	Gonadotropin deficiency	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27

Genes (9) :CHD7 FGFR1 FSHB GLI3 KISS1R LHX3 NKX2-1 PCSK1 POMC

Diseases (11) :OMIM:214800 OMIM:615465 ORPHA:52901 ORPHA:672 OMIM:614837 OMIM:221750 ORPHA:231720 OMIM:610978 ORPHA:71528 ORPHA:71526 OMIM:609734

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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