Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Abnormal chorioretinal morphology (HP:0000532)help
Parent Node:
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Retinal dystrophy (HP:0000556)help
..Starting node
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Chorioretinal dystrophy (HP:0001135)help
Term ID: 1135
Name: Chorioretinal dystrophy
Synonym:
Definition:
Comments:
Reference: HP:0001135
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCone/cone-rod dystrophy (HP:0000548) help
..expandCongenital stationary night blindness (HP:0007642) help
..expandMacular dystrophy (HP:0007754) help
..expandPattern dystrophy of the retina (HP:0007963) help
..expandRetinal dystrophy with early macular involvement (HP:0030635) help
..expandRod-cone dystrophy (HP:0000510) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001135HP:0001135Chorioretinal dystrophy0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001135HP:0001135Chorioretinal dystrophy0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001135HP:0001135Chorioretinal dystrophy0PNPLA6 CL E G H109081180ORPHA16137916268603197
HP:0001135HP:0001135Chorioretinal dystrophy0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM11412421698609948
HP:0001135HP:0001135Chorioretinal dystrophy0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0001135HP:0001135Chorioretinal dystrophy0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001135HP:0001135Chorioretinal dystrophy0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM06137916268603197
HP:0001135HP:0001135Chorioretinal dystrophy0UBE3B CL E G H899102707ORPHA0255413478608047


Genes (6) :CREBBP EP300 PNPLA6 RNF216 UBE3B VPS13B

Diseases (7) :180849 1180 215470 212840 2707 193 216550
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.