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
..Opto-chiasmatic atrophy (HP:0034008)

Term ID:

34008

Name:

Opto-chiasmatic atrophy

Synonym:

Definition:

Wasting (atrophy) of the optic chiasm.

Comments:

Reference:

HP:0034008

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:0034008	HP:0034008	Opto-chiasmatic atrophy	0	LETM1 CL E G H	3954	6556	OMIM:620089		2
HP:0034008	HP:0034008	Opto-chiasmatic atrophy	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	21

Genes (2) :LETM1 UCHL1

Diseases (2) :OMIM:620089 OMIM:615491

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