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

Term ID:

10664

Name:

Fusion of the left and right thalami

Synonym:

Fused thalami; Fusion of thamali; Undivided thalami

Definition:

A developmental defect characterized by fusion of the left and right halves of the thalamus.

Comments:

Reference:

HP:0010664

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)

Thalamic arteriovenous malformation (HP:0031254)

Thalamic calcification (HP:0025041)

Thalamic edema (HP:0025040)

Thalamic hemorrhage (HP:0025064)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010664	HP:0010664	Fusion of the left and right thalami	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2	36
HP:0010664	HP:0010664	Fusion of the left and right thalami	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH	1
HP:0010664	HP:0010664	Fusion of the left and right thalami	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	665

Genes (3) :DCC EXOC2 PTCH1

Diseases (3) :OMIM:617542 OMIM:619306 OMIM:610828

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