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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011501HP:0011501Anterior lenticonus0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0011501HP:0011501Anterior lenticonus0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0011501HP:0011501Anterior lenticonus0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0011501HP:0011501Anterior lenticonus0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0011501HP:0011501Anterior lenticonus0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18


Genes (4) :COL4A3 COL4A4 COL4A5 COL4A6

Diseases (3) :OMIM:203780 OMIM:301050 ORPHA:1018
 

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