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 nervous system physiology (HP:0012638)

Grandparent Node:
Abnormality of the diencephalon (HP:0010662)

Grandparent Node:
Abnormality of the hypothalamus-pituitary axis (HP:0000864)

Parent Node:
Abnormal hypothalamus physiology (HP:0012285)

..Starting node
..Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)

Term ID:

12287

Name:

Hypothalamic luteinizing hormone-releasing hormone deficiency

Synonym:

Definition:

Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.

Comments:

Reference:

HP:0012287

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)

Hypothalamic hypothyroidism (HP:0008237)

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:0012287	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone 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:0012287	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012287	HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40

Genes (3) :LHX3 MAGEL2 SIM1

Diseases (3) :ORPHA:231720 ORPHA:398069 ORPHA:398079

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