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:
Abnormality of thalamus morphology (HP:0010663)

..Starting node
..Thalamic edema (HP:0025040)

Term ID:

25040

Name:

Thalamic edema

Synonym:

Edema of the thalamus; Oedema of the thalamus; Thalamic oedema

Definition:

Swelling within the thalamus due to the accumulation of fluid.

Comments:

Reference:

HP:0025040

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal thalamic MRI signal intensity (HP:0012696)

Abnormal thalamic size (HP:0012693)

Dysgenesis of the thalamus (HP:0025099)

Fusion of the left and right thalami (HP:0010664)

Thalamic arteriovenous malformation (HP:0031254)

Thalamic calcification (HP:0025041)

Thalamic hemorrhage (HP:0025064)

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:0025040	HP:0025040	Thalamic edema	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (1) :NDE1

Diseases (1) :ORPHA:2177

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