Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the lens (HP:0000517)help
Parent Node:
expand
Abnormality of lens shape (HP:0011526)help
..Starting node
..expand
Lenticonus (HP:0001142)help
Term ID: 1142
Name: Lenticonus
Synonym:
Definition: A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
Comments:
Reference: HP:0001142
Genes and Diseases:
 
       Child Nodes:
........expandAnterior lenticonus (HP:0011501) help
........expandPosterior lenticonus (HP:0011502) help

 Sister Nodes: 
..expandLentiglobus (HP:0011527) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001142HP:0001142Lenticonus0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0001142HP:0001142Lenticonus0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0001142HP:0001142Lenticonus1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0001142HP:0001142Lenticonus1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :COL4A3 COL4A4 COL4A5 LAMB2

Diseases (4) :104200 301050 203780 609049
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.