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 fundus morphology (HP:0001098)

Parent Node:
Abnormality of the optic nerve (HP:0000587)

..Starting node
..Abnormality of optic chiasm morphology (HP:0025163)

Term ID:

25163

Name:

Abnormality of optic chiasm morphology

Synonym:

Definition:

A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.

Comments:

Reference:

HP:0025163

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal optic disc morphology (HP:0012795)

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

Leber optic atrophy (HP:0001112)

Marcus Gunn pupil (HP:0200057)

Morning glory anomaly (HP:0025514)

Optic disc coloboma (HP:0000588)

Optic nerve arteriovenous malformation (HP:0031256)

Optic nerve compression (HP:0007807)

Optic nerve dysplasia (HP:0001093)

Optic nerve misrouting (HP:0025551)

Optic neuritis (HP:0100653)

Optic neuropathy (HP:0001138)

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:0025163	HP:0025163	Abnormality of optic chiasm morphology	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0025163	HP:0025163	Abnormality of optic chiasm morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0025163	HP:0025163	Abnormality of optic chiasm morphology	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0025163	HP:0025163	Abnormality of optic chiasm morphology	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0025163	HP:0025163	Abnormality of optic chiasm morphology	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0025163	HP:0034311	Hypoplastic optic chiasm	1	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0025163	HP:0034008	Opto-chiasmatic atrophy	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0025163	HP:0034311	Hypoplastic optic chiasm	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0025163	HP:0034008	Opto-chiasmatic atrophy	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21

Genes (5) :ALDH1A3 DYRK1A LETM1 OPA1 UCHL1

Diseases (5) :OMIM:615113 ORPHA:268261 OMIM:620089 OMIM:210000 OMIM:615491

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