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

..Starting node
..Fusion of the caudate and putamen (HP:0034180)

Term ID:

34180

Name:

Fusion of the caudate and putamen

Synonym:

Definition:

Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.

Comments:

Reference:

HP:0034180

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034180	HP:0034180	Fusion of the caudate and putamen	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	64

Genes (1) :TUBB3

Diseases (1) :OMIM:614039

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