Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Parent Node:
expand
Abnormal lens morphology (HP:0000517)help
Parent Node:
expand
Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
..Starting node
..expand
Aplasia/Hypoplasia of the lens (HP:0008063)help
Term ID: 8063
Name: Aplasia/Hypoplasia of the lens
Synonym: Absent/small lens; Absent/underdeveloped lens
Definition: Absence or underdevelopment of the lens.
Comments:
Reference: HP:0008063
Genes and Diseases:
 
       Child Nodes:
........expandAphakia (HP:0007707) help
................... HP:0500081 Pseudophakia
........expandMicrophakia (HP:0012376) help
........expandMicrospherophakia (HP:0030961) help
........expandLens coloboma (HP:0100719) help

 Sister Nodes: 
..expandAnterior segment of eye aplasia (HP:0007779) help
..expandAplasia/Hypoplasia of the iris (HP:0008053) 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:0008063HP:0008063Aplasia/Hypoplasia of the lens0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakia23
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3123
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0008063HP:0008063Aplasia/Hypoplasia of the lens0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040282 - Frequent5
HP:0008063HP:0030961Microspherophakia1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0008063HP:0012376Microphakia1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 8HP:0040283 - Occasional5
HP:0008063HP:0007707Congenital aphakia1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0008063HP:0030961Microspherophakia1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008063HP:0030961Microspherophakia1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0008063HP:0100719Lens coloboma1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008063HP:0100719Lens coloboma1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0008063HP:0007707Congenital aphakia1FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0008063HP:0007707Congenital aphakia1FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakiaHP:0040281 - Very frequent23
HP:0008063HP:0012376Microphakia1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0008063HP:0012376Microphakia1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0008063HP:0030961Microspherophakia1LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0008063HP:0030961Microspherophakia1LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0008063HP:0100719Lens coloboma1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008063HP:0007707Congenital aphakia1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional


Genes (15) :ADAMTS10 COL2A1 CPAMD8 CYTB FBN1 FBXW11 FGF3 FOXE3 HMX1 LMX1B LTBP2 NDP PRR12 TONSL XYLT2

Diseases (18) :OMIM:277600 ORPHA:485 OMIM:617319 ORPHA:137675 OMIM:154700 OMIM:608328 OMIM:618914 ORPHA:2791 OMIM:610256 ORPHA:83461 OMIM:612109 OMIM:161200 OMIM:251750 OMIM:614819 ORPHA:649 OMIM:619539 ORPHA:93357 ORPHA:85194
 

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