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 optic disc morphology (HP:0012795)

Parent Node:
Cranial nerve compression (HP:0001293)

Parent Node:
Optic atrophy (HP:0000648)

..Starting node
..Optic atrophy from cranial nerve compression (HP:0007958)

Term ID:

7958

Name:

Optic atrophy from cranial nerve compression

Synonym:

Definition:

Comments:

Reference:

HP:0007958

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007958	HP:0007958	Optic atrophy from cranial nerve compression	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	102
HP:0007958	HP:0007958	Optic atrophy from cranial nerve compression	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	2
HP:0007958	HP:0007958	Optic atrophy from cranial nerve compression	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	82

Genes (3) :CLCN7 PLEKHM1 TCIRG1

Diseases (1) :ORPHA:210110

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