Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
..Starting node
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Abnormal anterior chamber morphology (HP:0000593)help
Term ID: 593
Name: Abnormal anterior chamber morphology
Synonym: Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality
Definition: Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
Comments:
Reference: HP:0000593
Genes and Diseases:
 
       Child Nodes:
........expandShallow anterior chamber (HP:0000594) help
........expandAnterior segment dysgenesis (HP:0007700) help
................... HP:0000558 Rieger anomaly
................... HP:0000659 Peters anomaly
................... HP:0001492 Axenfeld anomaly
........expandDeep anterior chamber (HP:0007765) help
........expandAnterior chamber synechiae (HP:0007833) help
................... HP:0011483 Anterior synechiae of the anterior chamber
................... HP:0011484 Posterior synechiae of the anterior chamber
........expandAbsent anterior chamber of the eye (HP:0008037) help
........expandCorneolenticular adhesion (HP:0011485) help
........expandAbnormal trabecular meshwork morphology (HP:0012630) help
................... HP:0012631 Pigment deposition in the trabecular meshwork
........expandAnterior chamber cyst (HP:0025311) help
........expandAnterior chamber cells (HP:0025560) help
................... HP:0025561 Anterior chamber cells grade 1+
................... HP:0025562 Anterior chamber cells grade 0.5+
................... HP:0025563 Anterior chamber cells grade 0
................... HP:0025564 Anterior chamber cells grade 2+
................... HP:0025565 Anterior chamber cells grade 3+
................... HP:0025566 Anterior chamber cells grade 4+
........expandHypopyon (HP:0031615) help
........expandAnterior chamber flare (HP:0031616) help
................... HP:0031618 Anterior chamber flare grade 1+
................... HP:0031619 Anterior chamber flare grade 2+
................... HP:0031620 Anterior chamber flare grade 3+
................... HP:0031621 Anterior chamber flare grade 4+
........expandAnterior chamber inflammatory cells (HP:0031701) help
........expandAnterior chamber red blood cells (HP:0031702) help

 Sister Nodes: 
..expandAbnormal cornea morphology (HP:0000481) help
..expandAbnormal suspensory ligament of lens morphology (HP:0012628) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAbnormality of the lens (HP:0000517) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandPseudoexfoliation (HP:0012627) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000593HP:0000593Abnormal anterior chamber morphology0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000593HP:0000593Abnormal anterior chamber morphology0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000593HP:0000593Abnormal anterior chamber morphology0COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000593HP:0000593Abnormal anterior chamber morphology0COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000593HP:0000593Abnormal anterior chamber morphology0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0000593HP:0000593Abnormal anterior chamber morphology0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0000593HP:0000593Abnormal anterior chamber morphology0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000593HP:0000593Abnormal anterior chamber morphology0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000593HP:0000593Abnormal anterior chamber morphology0MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology0MITF CL E G H428642665ORPHA1612407105156845
HP:0000593HP:0000593Abnormal anterior chamber morphology0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
HP:0000593HP:0000593Abnormal anterior chamber morphology1ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000593HP:0000593Abnormal anterior chamber morphology1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000593HP:0000593Abnormal anterior chamber morphology1COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000593HP:0000593Abnormal anterior chamber morphology1COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000593HP:0000593Abnormal anterior chamber morphology1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0000593HP:0000593Abnormal anterior chamber morphology1FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0000593HP:0000593Abnormal anterior chamber morphology1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000593HP:0000593Abnormal anterior chamber morphology1KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000593HP:0000593Abnormal anterior chamber morphology1MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology1MITF CL E G H428642665ORPHA1612407105156845
HP:0000593HP:0000593Abnormal anterior chamber morphology1PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
HP:0000593HP:0000593Abnormal anterior chamber morphology2ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000593HP:0000593Abnormal anterior chamber morphology2CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000593HP:0000593Abnormal anterior chamber morphology2COLEC10 CL E G H10584293843ORPHA14532220607620
HP:0000593HP:0000593Abnormal anterior chamber morphology2COLEC11 CL E G H78989293843ORPHA1135917213612502
HP:0000593HP:0000593Abnormal anterior chamber morphology2FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0000593HP:0000593Abnormal anterior chamber morphology2FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0000593HP:0000593Abnormal anterior chamber morphology2JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000593HP:0000593Abnormal anterior chamber morphology2KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000593HP:0000593Abnormal anterior chamber morphology2MASP1 CL E G H5648293843ORPHA1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology2MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0000593HP:0000593Abnormal anterior chamber morphology2MITF CL E G H428642665ORPHA1612407105156845
HP:0000593HP:0000593Abnormal anterior chamber morphology2PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000593HP:0000593Abnormal anterior chamber morphology0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA052017233606421
HP:0000593HP:0000593Abnormal anterior chamber morphology0NDP CL E G H4693190ORPHA01672077678300658
HP:0000593HP:0000593Abnormal anterior chamber morphology0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0000593HP:0000593Abnormal anterior chamber morphology1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA052017233606421
HP:0000593HP:0000593Abnormal anterior chamber morphology1NDP CL E G H4693190ORPHA01672077678300658
HP:0000593HP:0000593Abnormal anterior chamber morphology1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0000593HP:0000593Abnormal anterior chamber morphology2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA052017233606421
HP:0000593HP:0000593Abnormal anterior chamber morphology2NDP CL E G H4693190ORPHA01672077678300658
HP:0000593HP:0000593Abnormal anterior chamber morphology2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833


Genes (27) :ADAMTS10 ASXL1 ATOH7 B3GLCT CHST14 COLEC10 COLEC11 CYP1B1 ELMO2 FBN1 FGFR1 FOXC1 FOXE3 JAG1 KLHL7 LRP5 LTBP2 MASP1 MIR204 MITF NDP OVOL2 PAX6 PIK3R1 PITX2 RAB18 TSPAN12

Diseases (27) :97297 601776 293843 3019 613001 782 118450 257920 42665 190 3163 277600 221900 709 608328 259770 251750 614819 649 310600 614222 613310 708 617315 610256 616722 122000
 

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