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 retinochoroidopathy (HP:0030952)help
Term ID: 30952
Name: Birdshot retinochoroidopathy
Synonym: Birdshot choroidal lesions; Birdshot laesions; Birdshot lesions
Definition: Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030952HP:0030952Birdshot retinochoroidopathy0 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 December 15 2022 release.