Human Phenotype Ontology 
Grandparent Node:
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Abnormal posterior eye segment morphology (HP:0004329)help
Parent Node:
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Abnormal fundus morphology (HP:0001098)help
..Starting node
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Fundus atrophy (HP:0001099)help
Term ID: 1099
Name: Fundus atrophy
Synonym:
Definition:
Comments:
Reference: HP:0001099
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal choroid morphology (HP:0000610) help
..expandAbnormal retinal morphology (HP:0000479) help
..expandAbnormality of fundus pigmentation (HP:0031605) help
..expandAbnormality of the optic nerve (HP:0000587) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
..expandFundus hemorrhage (HP:0031803) help
..expandMizuo phenomenon (HP:0030824) help
..expandOcular albinism (HP:0001107) help
..expandTapetal-like fundal reflex (HP:0025583) 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:0001099HP:0001099Fundus atrophy0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0001099HP:0001099Fundus atrophy0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0001099HP:0001099Fundus atrophy0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0001099HP:0001099Fundus atrophy0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0001099HP:0001099Fundus atrophy0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129


Genes (5) :C1QTNF5 GUCY2D PCARE RP2 RPE65

Diseases (5) :ORPHA:67042 OMIM:204000 OMIM:613428 OMIM:312600 OMIM:204100
 

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