Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Aplasia/Hypoplasia affecting the eye (HP:0008056)help
..Starting node
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Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Term ID: 8062
Name: Aplasia/Hypoplasia affecting the anterior segment of the eye
Synonym:
Definition: Absence or underdevelopment of the anterior segment of the eye.
Comments:
Reference: HP:0008062
Genes and Diseases:
 
       Child Nodes:
........expandAnterior segment of eye aplasia (HP:0007779) help
........expandAplasia/Hypoplasia of the iris (HP:0008053) help
................... HP:0000526 Aniridia
................... HP:0007676 Hypoplasia of the iris
........expandAplasia/Hypoplasia of the lens (HP:0008063) help
................... HP:0007707 Aphakia
................... HP:0012376 Microphakia
................... HP:0030961 Microspherophakia
................... HP:0100719 Lens coloboma

 Sister Nodes: 
..expandAnophthalmia (HP:0000528) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandMicrophthalmia (HP:0000568) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008062HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye0 CL E G H
HP:0008062HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1 CL E G H
HP:0008062HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye2 CL E G H
HP:0008062HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye3 CL E G H


Genes (115) :ADAMTS10 ADAMTSL1 B9D1 B9D2 BAZ1B BDNF BRCA1 BRCA2 BRIP1 BTRC CC2D2A CEP290 CEP55 CHN1 CLIP2 COL25A1 COL4A1 CPAMD8 CPLX1 CSPP1 CTBP1 DIS3L2 DLX5 DLX6 ELN EPS15L1 ERCC4 ERCC6 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF3 FGFR1 FGFRL1 FH FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 H19 HHAT HMX1 IGF1R ITPR1 KIF1B LAMB2 LETM1 LIMK1 LMX1B LRP2 LTBP2 MAD2L2 MAFB MAX MDH2 MIR184 MITF MKS1 NDP NSD2 PALB2 PAX3 PAX6 PIK3R1 PITX2 PITX3 PORCN POU6F2 RAD51 RAD51C REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLX4 SOX10 STIM1 TBL2 TCTN2 TMEM107 TMEM127 TMEM216 TMEM231 TMEM67 TP63 TRIM28 TRIM44 TRIP13 UBE2T VHL WDPCP WDR73 WHCR WNT10B WT1 XRCC2 XYLT2

Diseases (55) :564 904 893 84 782 88632 610256 190 649 137902 85194 277600 654 2440 233 607595 617319 133540 602361 154700 608328 2791 613001 29072 250923 602482 83461 1422 612109 1065 206700 609049 161200 222448 251750 614819 614303 310600 106210 194072 3163 180500 2092 305600 611584 612783 251300 521445 194190 601631 270450 193510 193500 269880 137600
 

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