Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormal choroid morphology (HP:0000610)help
..Starting node
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Birdshot choroidal lesions (HP:0030952)help
Term ID: 30952
Name: Birdshot choroidal lesions
Synonym:
Definition: Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.
Comments:
Reference: HP:0030952
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal morphology of the choroidal vasculature (HP:0025568) help
..expandChoroidal nevus (HP:0025314) help
..expandChoroideremia (HP:0001139) help
..expandDark choroid (HP:0025148) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030952HP:0030952Birdshot choroidal lesions0 CL E G H


Genes (0) :

Diseases (0) :
 

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