Human Phenotype Ontology 
Grandparent Node:
expandZonular cataract (HP:0010920)help
Parent Node:
expandPunctate cataract (HP:0007648)help
..Starting node
..expandCerulean cataract (HP:0007976)help
Term ID: 7976
Name: Cerulean cataract
Synonym: Cataracts, congenital, cerulean
Definition: Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
Comments:
Reference: HP:0007976
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNuclear punctate cataract (HP:0010925) help
..expandPulverulent cataract (HP:0010693) 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:0007976HP:0007976Cerulean cataract0CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple typesHP:0040280 - ObligateHP:0003577 - Congenital onset13
HP:0007976HP:0007976Cerulean cataract0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0007976HP:0007976Cerulean cataract0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007976HP:0007976Cerulean cataract0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102


Genes (4) :CRYBB2 MAF OPA3 RTN4IP1

Diseases (4) :OMIM:601547 OMIM:610202 ORPHA:67036 OMIM:616732
 

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