Human Phenotype Ontology 
Grandparent Node:
expandAbnormal fundus morphology (HP:0001098)help
Parent Node:
expandAbnormal retinal morphology (HP:0000479)help
..Starting node
..expandRetinoschisis (HP:0030502)help
Term ID: 30502
Name: Retinoschisis
Synonym:
Definition: Splitting of the neuroretinal layers of the retina.
Comments:
Reference: HP:0030502
Genes and Diseases:
 
       Child Nodes:
........expandFoveoschisis (HP:0012152) help

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030502HP:0030502Retinoschisis0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0030502HP:0030502Retinoschisis0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0030502HP:0030502Retinoschisis0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0030502HP:0030502Retinoschisis0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0030502HP:0030502Retinoschisis0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0030502HP:0030502Retinoschisis0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94
HP:0030502HP:0030502Retinoschisis0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030502HP:0030502Retinoschisis0RS1 CL E G H624710457ORPHA:792X-linked retinoschisisHP:0040281 - Very frequent148
HP:0030502HP:0012152Foveoschisis1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0030502HP:0012152Foveoschisis1OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94


Genes (7) :ACTB ACTG1 CLCN2 MFRP NR2E3 OAT RS1

Diseases (7) :ORPHA:2995 OMIM:615651 OMIM:611040 OMIM:268100 OMIM:258870 OMIM:312700 ORPHA:792
 

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