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:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Abnormality of the anterior commissure (HP:0030301)

..Starting node
..Agenesis of the anterior commissure (HP:0030302)

Term ID:

30302

Name:

Agenesis of the anterior commissure

Synonym:

Definition:

Absence of the anterior commissure.

Comments:

Reference:

HP:0030302

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic anterior commissure (HP:0030303)

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:0030302	HP:0030302	Agenesis of the anterior commissure	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64

Genes (1) :TUBB3

Diseases (1) :ORPHA:300570

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