Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of lens shape (HP:0011526)help
Parent Node:
expand
Lenticonus (HP:0001142)help
..Starting node
..expand
Anterior lenticonus (HP:0011501)help
Term ID: 11501
Name: Anterior lenticonus
Synonym:
Definition: A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
Comments:
Reference: HP:0011501
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPosterior lenticonus (HP:0011502) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011501HP:0011501Anterior lenticonus0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM127211732204120070
HP:0011501HP:0011501Anterior lenticonus0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM123313472206120131
HP:0011501HP:0011501Anterior lenticonus0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100019012207303630
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :COL4A3 COL4A4 COL4A5

Diseases (2) :203780 301050
 

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