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:
Retinal degeneration (HP:0000546)

Parent Node:
Peripheral retinal degeneration (HP:0007769)

..Starting node
..Lattice retinal degeneration (HP:0007992)

Term ID:

7992

Name:

Lattice retinal degeneration

Synonym:

Definition:

Comments:

Reference:

HP:0007992

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Peripheral retinal cone degeneration (HP:0007782)

Peripheral cystoid retinal degeneration (HP:0007667)

Reticular pigmentary degeneration (HP:0007937)

Snowflake vitreoretinal degeneration (HP:0011533)

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:0007992	HP:0007992	Lattice retinal degeneration	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0007992	HP:0007992	Lattice retinal degeneration	0	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0007992	HP:0007992	Lattice retinal degeneration	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5

Genes (2) :COL2A1 P3H2

Diseases (3) :ORPHA:485 OMIM:619248 OMIM:614292

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