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
..Hypoplastic optic chiasm (HP:0034311)

Term ID:

34311

Name:

Hypoplastic optic chiasm

Synonym:

Optic chiasm hypoplasia

Definition:

Developmental defect characterized by undergrowth of the optic chiasm.

Comments:

Reference:

HP:0034311

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:0034311	HP:0034311	Hypoplastic optic chiasm	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	10
HP:0034311	HP:0034311	Hypoplastic optic chiasm	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	214

Genes (2) :ALDH1A3 OPA1

Diseases (2) :OMIM:615113 OMIM:210000

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