Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Congenital stationary cone dysfunction (HP:0030637)help
Term ID: 30637
Name: Congenital stationary cone dysfunction
Synonym: Cone dysfunction; Cone dysfunction syndrome
Definition: Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.
Comments:
Reference: HP:0030637
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of color vision (HP:0000551) help
................... HP:0007641 Dyschromatopsia
................... HP:0007803 Monochromacy
................... HP:0030584 Color vision test abnormality

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030637HP:0030637Congenital stationary cone dysfunction0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124579810295312610
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :RPGR

Diseases (1) :304020
 

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