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 atrophy (HP:0001105)

Parent Node:
Retinal pigment epithelial atrophy (HP:0007722)

..Starting node
..Patchy atrophy of the retinal pigment epithelium (HP:0007791)

Term ID:

7791

Name:

Patchy atrophy of the retinal pigment epithelium

Synonym:

Definition:

Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.

Comments:

Reference:

HP:0007791

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007791	HP:0007791	Patchy atrophy of the retinal pigment epithelium	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20
HP:0007791	HP:0007791	Patchy atrophy of the retinal pigment epithelium	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2

Genes (2) :C1QTNF5 RDH11

Diseases (2) :ORPHA:67042 ORPHA:436245

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