Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
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Abnormal uvea morphology (HP:0000553)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 uvea (HP:0008055)help
Term ID: 8055
Name: Aplasia/Hypoplasia affecting the uvea
Synonym: Absent/underdeveloped uvea
Definition: Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
Comments:
Reference: HP:0008055
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the ciliary body (HP:0007774) help
........expandAplasia/Hypoplasia of the iris (HP:0008053) help
................... HP:0000526 Aniridia
................... HP:0007676 Hypoplasia of the iris

 Sister Nodes: 
..expandAnophthalmia (HP:0000528) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) 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:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0 CL E G H
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea1 CL E G H
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea2 CL E G H
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea3 CL E G H


Genes (109) :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 FGFR1 FGFRL1 FH FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 H19 HHAT IGF1R ITPR1 KIF1B LAMB2 LETM1 LIMK1 LRP2 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

Diseases (46) :564 904 893 84 782 88632 609049 190 137902 654 2440 233 607595 617319 133540 602361 154700 613001 29072 250923 602482 610256 1422 1065 206700 222448 614303 649 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.