Human Phenotype Ontology 
Grandparent Node:
expand
Cataract (HP:0000518)help
Parent Node:
expand
Zonular cataract (HP:0010920)help
..Starting node
..expand
Punctate cataract (HP:0007648)help
Term ID: 7648
Name: Punctate cataract
Synonym: Punctate lenticular opacities
Definition: A type of cataract with punctate opacities of the lens.
Comments:
Reference: HP:0007648
Genes and Diseases:
 
       Child Nodes:
........expandCerulean cataract (HP:0007976) help
........expandPulverulent cataract (HP:0010693) help
................... HP:0007780 Cortical pulverulent cataract
................... HP:0010698 Nuclear pulverulent cataract
........expandNuclear punctate cataract (HP:0010925) help
................... HP:0010698 Nuclear pulverulent cataract

 Sister Nodes: 
..expandCoralliform cataract (HP:0010921) help
..expandCoronary cataract (HP:0025559) help
..expandCortical cataract (HP:0100019) help
..expandLamellar cataract (HP:0007971) help
..expandNuclear cataract (HP:0100018) 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:0007648HP:0007648Punctate cataract0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0007648HP:0007648Punctate cataract0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types18
HP:0007648HP:0007648Punctate cataract0CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types13
HP:0007648HP:0007648Punctate cataract0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types11
HP:0007648HP:0007648Punctate cataract0FTL CL E G H25123999OMIM:600886Hyperferritinemia with or without cataract33
HP:0007648HP:0007648Punctate cataract0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0007648HP:0007648Punctate cataract0GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types34
HP:0007648HP:0007648Punctate cataract0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0007648HP:0007648Punctate cataract0HSF4 CL E G H32995227OMIM:116800Cataract, lamellar38
HP:0007648HP:0007648Punctate cataract0LIM2 CL E G H39826610OMIM:615277Cataract 19, multiple types16
HP:0007648HP:0007648Punctate cataract0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0007648HP:0007648Punctate cataract0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0007648HP:0007648Punctate cataract0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0007648HP:0007648Punctate cataract0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0007648HP:0007648Punctate cataract0VIM CL E G H743112692OMIM:116300Cataract 30, multiple types3
HP:0007648HP:0010693Pulverulent cataract1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0007648HP:0010693Pulverulent cataract1CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple types.18
HP:0007648HP:0010693Pulverulent cataract1CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types13
HP:0007648HP:0007976Cerulean cataract1CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple typesHP:0040280 - ObligateHP:0003577 - Congenital onset13
HP:0007648HP:0010925Nuclear punctate cataract1CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types13
HP:0007648HP:0010925Nuclear punctate cataract1CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types11
HP:0007648HP:0010693Pulverulent cataract1CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types11
HP:0007648HP:0010693Pulverulent cataract1FTL CL E G H25123999OMIM:600886Hyperferritinemia with or without cataractHP:0040283 - Occasional33
HP:0007648HP:0010925Nuclear punctate cataract1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0007648HP:0010693Pulverulent cataract1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0007648HP:0010693Pulverulent cataract1GJA8 CL E G H27034281OMIM:116200Cataract 1, multiple types.34
HP:0007648HP:0010693Pulverulent cataract1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0007648HP:0010925Nuclear punctate cataract1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0007648HP:0010693Pulverulent cataract1HSF4 CL E G H32995227OMIM:116800Cataract, lamellar.38
HP:0007648HP:0010693Pulverulent cataract1LIM2 CL E G H39826610OMIM:615277Cataract 19, multiple types16
HP:0007648HP:0010693Pulverulent cataract1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0007648HP:0007976Cerulean cataract1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.21
HP:0007648HP:0007976Cerulean cataract1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007648HP:0007976Cerulean cataract1RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0007648HP:0010693Pulverulent cataract1VIM CL E G H743112692OMIM:116300Cataract 30, multiple types.3
HP:0007648HP:0010698Nuclear pulverulent cataract2CRYBB2 CL E G H14152398OMIM:601547Cataract 3, multiple types.13
HP:0007648HP:0010698Nuclear pulverulent cataract2CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types11
HP:0007648HP:0010698Nuclear pulverulent cataract2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0007648HP:0010698Nuclear pulverulent cataract2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0007648HP:0007780Cortical pulverulent cataract2LIM2 CL E G H39826610OMIM:615277Cataract 19, multiple types16
HP:0007648HP:0007780Cortical pulverulent cataract2MAF CL E G H40946776OMIM:610202Cataract 21, multiple types.HP:0003621 - Juvenile onset21


Genes (14) :BEST1 CRYBB1 CRYBB2 CRYGC FTL GJA5 GJA8 HSF4 LIM2 MAF OPA3 RTN4IP1 SEC23A VIM

Diseases (14) :OMIM:193220 OMIM:611544 OMIM:601547 OMIM:604307 OMIM:600886 OMIM:612474 OMIM:116200 OMIM:116800 OMIM:615277 OMIM:610202 ORPHA:67036 OMIM:616732 OMIM:607812 OMIM:116300
 

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