Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of fundus pigmentation (HP:0031605)

Parent Node:
Hyperpigmentation of the fundus (HP:0011512)

..Starting node
..Congenital hypertrophy of retinal pigment epithelium (HP:0007649)

Term ID:

7649

Name:

Congenital hypertrophy of retinal pigment epithelium

Synonym:

Definition:

Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.

Comments:

Reference:

HP:0007649

Genes and Diseases:

Child Nodes:

........

Solitary congenital hypertrophy of retinal pigment epithelium (HP:0011528)

........

Multiple bilateral congenital hypertrophy of retinal pigment epithelium (HP:0011529)

........

Grouped congenital hypertrophy of retinal pigment epithelium (HP:0030504)

Sister Nodes:

Large hyperpigmented retinal spots (HP:0007658)

Reticular pigmentary degeneration (HP:0007937)

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:0007649	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0007649	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0007649	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0007649	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0007649	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	592
HP:0007649	HP:0011529	Multiple bilateral congenital hypertrophy of retinal pigment epithelium	1	CL E G H
HP:0007649	HP:0011528	Solitary congenital hypertrophy of retinal pigment epithelium	1	CL E G H
HP:0007649	HP:0030504	Grouped congenital hypertrophy of retinal pigment epithelium	1	CL E G H

Genes (2) :APC MUTYH

Diseases (5) :OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:247798

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