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:
Abnormality of the diencephalon (HP:0010662)

Parent Node:
Abnormal hypothalamus morphology (HP:0012286)

..Starting node
..Hypothalamic atrophy (HP:0025058)

Term ID:

25058

Name:

Hypothalamic atrophy

Synonym:

Atrophy of the hypothalamus

Definition:

Partial or complete wasting (loss) of hypothalamus tissue that was once present.

Comments:

Reference:

HP:0025058

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysgenesis of the hypothalamus (HP:0025098)

Hypothalamic arteriovenous malformation (HP:0031255)

Hypothalamic hamartoma (HP:0002444)

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:0025058	HP:0025058	Hypothalamic atrophy	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287

Genes (1) :SPG11

Diseases (1) :ORPHA:2822

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