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:
Abnormal chorioretinal morphology (HP:0000532)

Parent Node:
Retinal dystrophy (HP:0000556)

..Starting node
..Chorioretinal dystrophy (HP:0001135)

Term ID:

1135

Name:

Chorioretinal dystrophy

Synonym:

Definition:

Comments:

Reference:

HP:0001135

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone/cone-rod dystrophy (HP:0000548)

Congenital stationary night blindness (HP:0007642)

Macular dystrophy (HP:0007754)

Pattern dystrophy of the retina (HP:0007963)

Retinal dystrophy with early macular involvement (HP:0030635)

Rod-cone dystrophy (HP:0000510)

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:0001135	HP:0001135	Chorioretinal dystrophy	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	PNPLA6 CL E G H	10908	16268	ORPHA:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	HP:0040281 - Very frequent	103
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.	10
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040283 - Occasional	13
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001135	HP:0001135	Chorioretinal dystrophy	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546

Genes (5) :LOC111365204 PNPLA6 RNF216 UBE3B VPS13B

Diseases (7) :OMIM:600790 ORPHA:1180 OMIM:215470 OMIM:212840 ORPHA:2707 OMIM:216550 ORPHA:193

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