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:
Abnormality of the optic nerve (HP:0000587)

Grandparent Node:
Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Parent Node:
Aplasia/Hypoplasia of the optic nerve (HP:0008058)

..Starting node
..Optic nerve aplasia (HP:0012521)

Term ID:

12521

Name:

Optic nerve aplasia

Synonym:

Absent optic nerve; Aplastic optic nerve

Definition:

Congenital absence of the optic nerve.

Comments:

Reference:

HP:0012521

Genes and Diseases:

Child Nodes:

Sister Nodes:

Optic disc hypoplasia (HP:0007766)

Optic nerve hypoplasia (HP:0000609)

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:0012521	HP:0012521	Optic nerve aplasia	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	194
HP:0012521	HP:0012521	Optic nerve aplasia	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL	194
HP:0012521	HP:0012521	Optic nerve aplasia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	20
HP:0012521	HP:0012521	Optic nerve aplasia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	33

Genes (3) :PAX6 SIX6 SOX2

Diseases (3) :OMIM:120200 OMIM:165550 OMIM:206900

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