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 calcification (HP:0025041)

Term ID:

25041

Name:

Thalamic calcification

Synonym:

Definition:

Calcium deposition in the thalamus.

Comments:

Reference:

HP:0025041

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 edema (HP:0025040)

Thalamic hemorrhage (HP:0025064)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025041	HP:0025041	Thalamic calcification	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0025041	HP:0025041	Thalamic calcification	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive

Genes (2) :JAM2 MYORG

Diseases (2) :OMIM:618824 OMIM:618317

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