Human Phenotype Ontology 
..Starting node
..expandSpherophakia (HP:0034375)help
Term ID: 34375
Name: Spherophakia
Synonym:
Definition: Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.
Comments:
Reference: HP:0034375
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034375HP:0034375Spherophakia0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0034375HP:0034375Spherophakia0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0034375HP:0034375Spherophakia0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0034375HP:0034375Spherophakia0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0034375HP:0034375Spherophakia0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0034375HP:0034375Spherophakia0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3123
HP:0034375HP:0030961Microspherophakia1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0034375HP:0030961Microspherophakia1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0034375HP:0030961Microspherophakia1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0034375HP:0030961Microspherophakia1LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0034375HP:0030961Microspherophakia1LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123


Genes (4) :ADAMTS10 ASPH FBN1 LTBP2

Diseases (6) :OMIM:277600 OMIM:601552 OMIM:154700 OMIM:608328 OMIM:251750 OMIM:614819
 

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