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
..Dysgenesis of the hypothalamus (HP:0025098)

Term ID:

25098

Name:

Dysgenesis of the hypothalamus

Synonym:

Hypothalamic dysgenesis

Definition:

Structural abnormality of the hypothalamus related to defective development.

Comments:

Reference:

HP:0025098

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypothalamic arteriovenous malformation (HP:0031255)

Hypothalamic atrophy (HP:0025058)

Hypothalamic hamartoma (HP:0002444)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025098	HP:0025098	Dysgenesis of the hypothalamus	0	CL E G H

Genes (0) :

Diseases (0) :

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