Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal lens morphology (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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001142HP:0001142Lenticonus0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0001142HP:0001142Lenticonus0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive161
HP:0001142HP:0001142Lenticonus0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive174
HP:0001142HP:0001142Lenticonus0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0001142HP:0001142Lenticonus0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0001142HP:0001142Lenticonus0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0001142HP:0001142Lenticonus0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0001142HP:0001142Lenticonus0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040283 - Occasional159
HP:0001142HP:0001142Lenticonus0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040283 - Occasional32
HP:0001142HP:0001142Lenticonus0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040283 - Occasional107
HP:0001142HP:0001142Lenticonus0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040283 - Occasional47
HP:0001142HP:0011501Anterior lenticonus1COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0001142HP:0011501Anterior lenticonus1COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0001142HP:0011501Anterior lenticonus1COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0001142HP:0011501Anterior lenticonus1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0001142HP:0011501Anterior lenticonus1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0001142HP:0011502Posterior lenticonus1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92


Genes (9) :COL4A3 COL4A4 COL4A5 COL4A6 LAMB2 PRPH2 RDH5 RHO RLBP1

Diseases (6) :OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 OMIM:609049 ORPHA:52427
 

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