Human Phenotype Ontology 
Grandparent Node:
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Cataract (HP:0000518)help
Parent Node:
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Zonular cataract (HP:0010920)help
..Starting node
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Cortical cataract (HP:0100019)help
Term ID: 100019
Name: Cortical cataract
Synonym:
Definition: A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
Comments:
Reference: HP:0100019
Genes and Diseases:
 
       Child Nodes:
........expandAnterior cortical cataract (HP:0007795) help
........expandPosterior cortical cataract (HP:0010924) help
................... HP:0007948 Dense posterior cortical cataract

 Sister Nodes: 
..expandCoralliform cataract (HP:0010921) help
..expandCoronary cataract (HP:0025559) help
..expandLamellar cataract (HP:0007971) help
..expandNuclear cataract (HP:0100018) help
..expandPunctate cataract (HP:0007648) help
..expandSutural cataract (HP:0010695) 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:0100019HP:0100019Cortical cataract0BFSP1 CL E G H6311040OMIM:611391Cataract 33, multiple types.HP:0003621 - Juvenile onset15
HP:0100019HP:0100019Cortical cataract0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0100019HP:0100019Cortical cataract0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0100019HP:0100019Cortical cataract0MIP CL E G H42847103OMIM:615274Cataract 15, multiple types.40
HP:0100019HP:0100019Cortical cataract0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0100019HP:0100019Cortical cataract0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100019HP:0100019Cortical cataract0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0100019HP:0100019Cortical cataract0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0100019HP:0100019Cortical cataract0PAK2 CL E G H50628591OMIM:618458
HP:0100019HP:0100019Cortical cataract0PANK4 CL E G H5522919366OMIM:619593CATARACT 49; CTRCT49
HP:0100019HP:0010924Posterior cortical cataract1OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0100019HP:0007795Anterior cortical cataract1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0100019HP:0010924Posterior cortical cataract1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0100019HP:0007795Anterior cortical cataract1PAK2 CL E G H50628591OMIM:618458
HP:0100019HP:0010924Posterior cortical cataract1PANK4 CL E G H5522919366OMIM:619593CATARACT 49; CTRCT49
HP:0100019HP:0007948Dense posterior cortical cataract2OCRL CL E G H49528108OMIM:309000Lowe syndrome.88


Genes (9) :BFSP1 COL18A1 KIAA1549 MIP NF2 OCRL OPA3 PAK2 PANK4

Diseases (10) :OMIM:611391 OMIM:267750 OMIM:618613 OMIM:615274 ORPHA:637 OMIM:101000 OMIM:309000 ORPHA:67036 OMIM:618458 OMIM:619593
 

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