Human Phenotype Ontology 
Grandparent Node:
expandAbnormal macular morphology (HP:0001103)help
Grandparent Node:
expandRetinal dystrophy (HP:0000556)help
Parent Node:
expandMacular dystrophy (HP:0007754)help
..Starting node
..expandOccult macular dystrophy (HP:0030636)help
Term ID: 30636
Name: Occult macular dystrophy
Synonym:
Definition: Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.
Comments:
Reference: HP:0030636
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030636HP:0030636Occult macular dystrophy0 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.