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 retinal morphology (HP:0000479)

Parent Node:
Retinal degeneration (HP:0000546)

..Starting node
..obsolete Tapetoretinal degeneration (HP:0000547)

Term ID:

547

Name:

obsolete Tapetoretinal degeneration

Synonym:

Retinotapetal degeneration

Definition:

Comments:

Reference:

HP:0000547

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone dystrophy (HP:0008020)

Macular degeneration (HP:0000608)

obsolete Vitreoretinal degeneration (HP:0000655)

Peripheral retinal degeneration (HP:0007769)

Retinal atrophy (HP:0001105)

Retinitis pigmentosa inversa (HP:0008035)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000547	HP:0000547	obsolete Tapetoretinal degeneration	0	CL E G H

Genes (0) :

Diseases (0) :

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