Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lens (HP:0000517)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Parent Node:
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Aplasia/Hypoplasia of the lens (HP:0008063)help
..Starting node
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Microspherophakia (HP:0030961)help
Term ID: 30961
Name: Microspherophakia
Synonym:
Definition: Lens of the eye is smaller than normal and spherically shaped.
Comments:
Reference: HP:0030961
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital aphakia (HP:0007707) help
..expandLens coloboma (HP:0100719) help
..expandMicrophakia (HP:0012376) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0030961HP:0030961Microspherophakia0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0030961HP:0030961Microspherophakia0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0030961HP:0030961Microspherophakia0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030961HP:0030961Microspherophakia0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01516513201608990


Genes (3) :ADAMTS10 FBN1 LTBP2

Diseases (4) :277600 608328 251750 614819
 

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