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 vitreous humor morphology (HP:0004327)

Parent Node:
Remnants of the hyaloid vascular system (HP:0007968)

..Starting node
..Glial remnants anterior to the optic disc (HP:0030743)

Term ID:

30743

Name:

Glial remnants anterior to the optic disc

Synonym:

Bergmeister papilla

Definition:

Persistance of a posterior remnant of the hyaloid artery located at the optic disc.

Comments:

Reference:

HP:0030743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Glial remnants posterior to lens (HP:0030742)

Hyaloid vascular remnant and retrolental mass (HP:0030744)

Vascular remnant arising from the disc (HP:0009922)

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:0030743	HP:0030743	Glial remnants anterior to the optic disc	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous	4
HP:0030743	HP:0030743	Glial remnants anterior to the optic disc	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous	109
HP:0030743	HP:0030743	Glial remnants anterior to the optic disc	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous	39

Genes (3) :ATOH7 FZD4 NDP

Diseases (1) :ORPHA:91495

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