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:
Vitreoretinopathy (HP:0007773)

..Starting node
..Degenerative vitreoretinopathy (HP:0007964)

Term ID:

7964

Name:

Degenerative vitreoretinopathy

Synonym:

Definition:

Comments:

Reference:

HP:0007964

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erosive vitreoretinopathy (HP:0030673)

Exudative vitreoretinopathy (HP:0030490)

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:0007964	HP:0007964	Degenerative vitreoretinopathy	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0007964	HP:0007964	Degenerative vitreoretinopathy	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0007964	HP:0007964	Degenerative vitreoretinopathy	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12

Genes (3) :COL2A1 COL9A1 ERBB3

Diseases (3) :ORPHA:485 OMIM:614134 OMIM:607598

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