Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Morning glory anomaly (HP:0025514)

Term ID:

25514

Name:

Morning glory anomaly

Synonym:

Morning glory disc anomaly; Morning glory optic disc

Definition:

An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.

Comments:

Reference:

HP:0025514

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal optic disc morphology (HP:0012795)

Abnormality of optic chiasm morphology (HP:0025163)

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

Leber optic atrophy (HP:0001112)

Marcus Gunn pupil (HP:0200057)

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:0025514	HP:0025514	Morning glory anomaly	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	94
HP:0025514	HP:0025514	Morning glory anomaly	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0025514	HP:0025514	Morning glory anomaly	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	214
HP:0025514	HP:0025514	Morning glory anomaly	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0025514	HP:0025514	Morning glory anomaly	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0025514	HP:0025514	Morning glory anomaly	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0025514	HP:0025514	Morning glory anomaly	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82

Genes (6) :DNM1L HMX1 OPA1 PAX2 PAX6 TMEM237

Diseases (6) :ORPHA:98673 OMIM:612109 OMIM:120330 OMIM:120200 OMIM:165550 OMIM:614424

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

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