Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Glaucoma (HP:0000501)help
..Starting node
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Developmental glaucoma (HP:0001087)help
Term ID: 1087
Name: Developmental glaucoma
Synonym: Childhood glaucoma; Infantile glaucoma; Pediatric glaucoma
Definition: Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
Comments:
Reference: HP:0001087
Genes and Diseases:
 
       Child Nodes:
........expandBuphthalmos (HP:0000557) help
........expandPrimary congenital glaucoma (HP:0008007) help
........expandLate onset congenital glaucoma (HP:0008041) help

 Sister Nodes: 
..expandAngle closure glaucoma (HP:0012109) help
..expandOcular hypertension (HP:0007906) help
..expandOpen angle glaucoma (HP:0012108) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001087HP:0001087Developmental glaucoma0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11384923606374
HP:0001087HP:0001087Developmental glaucoma0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12818419721613165
HP:0001087HP:0001087Developmental glaucoma0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392841971603799
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H1545708ORPHA12432392597601771
HP:0001087HP:0001087Developmental glaucoma0CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432392597601771
HP:0001087HP:0001087Developmental glaucoma0FOXC1 CL E G H2296708ORPHA11392473800601090
HP:0001087HP:0001087Developmental glaucoma0FOXE3 CL E G H2301708ORPHA1311463808601094
HP:0001087HP:0001087Developmental glaucoma0PAX6 CL E G H5080708ORPHA15715708620607108
HP:0001087HP:0001087Developmental glaucoma0PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15715708620607108
HP:0001087HP:0001087Developmental glaucoma0PITX2 CL E G H5308708ORPHA11041669005601542
HP:0001087HP:0001087Developmental glaucoma0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM1411639721179035
HP:0001087HP:0001087Developmental glaucoma1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11384923606374
HP:0001087HP:0001087Developmental glaucoma1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12818419721613165
HP:0001087HP:0001087Developmental glaucoma1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392841971603799
HP:0001087HP:0001087Developmental glaucoma1CYP1B1 CL E G H1545708ORPHA12432392597601771
HP:0001087HP:0001087Developmental glaucoma1CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432392597601771
HP:0001087HP:0001087Developmental glaucoma1FOXC1 CL E G H2296708ORPHA11392473800601090
HP:0001087HP:0001087Developmental glaucoma1FOXE3 CL E G H2301708ORPHA1311463808601094
HP:0001087HP:0001087Developmental glaucoma1PAX6 CL E G H5080708ORPHA15715708620607108
HP:0001087HP:0001087Developmental glaucoma1PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15715708620607108
HP:0001087HP:0001087Developmental glaucoma1PITX2 CL E G H5308708ORPHA11041669005601542
HP:0001087HP:0001087Developmental glaucoma1PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM1411639721179035
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001087HP:0001087Developmental glaucoma0ADAR CL E G H10351ORPHA0229468225146920
HP:0001087HP:0001087Developmental glaucoma0FLNA CL E G H231690652ORPHA027118133754300017
HP:0001087HP:0001087Developmental glaucoma0IFIH1 CL E G H6413551ORPHA02846218873606951
HP:0001087HP:0001087Developmental glaucoma0MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM015523145610303
HP:0001087HP:0001087Developmental glaucoma0RNASEH2A CL E G H1053551ORPHA02118518518606034
HP:0001087HP:0001087Developmental glaucoma0RNASEH2B CL E G H7962151ORPHA04218925671610326
HP:0001087HP:0001087Developmental glaucoma0RNASEH2C CL E G H8415351ORPHA01514424116610330
HP:0001087HP:0001087Developmental glaucoma0SAMHD1 CL E G H2593951ORPHA05732415925606754
HP:0001087HP:0001087Developmental glaucoma0SRY CL E G H67361772ORPHA01099911311480000
HP:0001087HP:0001087Developmental glaucoma0TREX1 CL E G H1127751ORPHA07119712269606609
HP:0001087HP:0001087Developmental glaucoma1ADAR CL E G H10351ORPHA0229468225146920
HP:0001087HP:0001087Developmental glaucoma1FLNA CL E G H231690652ORPHA027118133754300017
HP:0001087HP:0001087Developmental glaucoma1IFIH1 CL E G H6413551ORPHA02846218873606951
HP:0001087HP:0001087Developmental glaucoma1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM015523145610303
HP:0001087HP:0001087Developmental glaucoma1RNASEH2A CL E G H1053551ORPHA02118518518606034
HP:0001087HP:0001087Developmental glaucoma1RNASEH2B CL E G H7962151ORPHA04218925671610326
HP:0001087HP:0001087Developmental glaucoma1RNASEH2C CL E G H8415351ORPHA01514424116610330
HP:0001087HP:0001087Developmental glaucoma1SAMHD1 CL E G H2593951ORPHA05732415925606754
HP:0001087HP:0001087Developmental glaucoma1SRY CL E G H67361772ORPHA01099911311480000
HP:0001087HP:0001087Developmental glaucoma1TREX1 CL E G H1127751ORPHA07119712269606609


Genes (40) :ADAMTSL1 ADAR AKT1 ATOH7 B3GAT3 CANT1 CHST3 CYP1B1 DAG1 FGFR2 FKRP FKTN FLNA FOXC1 FOXE3 FUT8 GLIS3 GNAQ IFIH1 LARGE1 LTBP2 MAFA OCRL PAX6 PITX2 POMGNT1 POMT1 POMT2 PTEN PXDN PYCR1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SH3PXD2B SRY TEK TREX1 TWIST1

Diseases (27) :51 245600 251450 708 617315 90652 147630 604229 614438 1772 521445 744 221900 231300 600975 616538 101400 236670 618005 610199 185300 613086 534 253280 613150 269400 249420
 

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