Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Retinal dystrophy (HP:0000556)help
..Starting node
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Retinal dystrophy with early macular involvement (HP:0030635)help
Term ID: 30635
Name: Retinal dystrophy with early macular involvement
Synonym:
Definition:
Comments:
Reference: HP:0030635
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorioretinal dystrophy (HP:0001135) help
..expandCone/cone-rod dystrophy (HP:0000548) help
..expandCongenital stationary night blindness (HP:0007642) help
..expandMacular dystrophy (HP:0007754) help
..expandPattern dystrophy of the retina (HP:0007963) help
..expandRod-cone dystrophy (HP:0000510) 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:0030635HP:0030635Retinal dystrophy with early macular involvement0 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.