Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormal sclera morphology (HP:0000591)help
Term ID: 591
Name: Abnormal sclera morphology
Synonym: Abnormality of the outer white part of eyeball; Abnormality of the sclera
Definition: An abnormality of the sclera.
Comments:
Reference: HP:0000591
Genes and Diseases:
 
       Child Nodes:
........expandBlue sclerae (HP:0000592) help
........expandEpibulbar dermoid (HP:0001140) help
........expandPigmentation of the sclera (HP:0007832) help
........expandSuperficial episcleral hyperemia (HP:0025339) help
........expandDeep episcleral hyperemia (HP:0025340) help
........expandScleral rupture (HP:0025513) help
........expandOcular melanocytosis (HP:0025534) help
........expandScleral thickening (HP:0030823) help
........expandScleral staphyloma (HP:0030854) help
................... HP:0030855 Anterior staphyloma
................... HP:0030856 Posterior staphyloma
........expandScleral schwannoma (HP:0100011) help
........expandScleritis (HP:0100532) help
........expandEpiscleritis (HP:0100534) help

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000591HP:0000591Abnormal sclera morphology0CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000591HP:0000591Abnormal sclera morphology1CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
HP:0000591HP:0000591Abnormal sclera morphology2CLCNKB CL E G H1188607364Bartter syndrome type 3607364C1846343OMIM11521662027602023
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (89) :ABCC6 ADAMTS2 AKT1 ALPL B3GALT6 B3GAT3 B4GALT7 BCL11A BEST1 BMP1 C1R CANT1 CHST14 CHST3 CHSY1 CLCNKB COG4 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CTSK DACT1 DNASE1L3 DSE DVL1 DVL3 ENPP1 ESCO2 FBN1 FGFR1 FKBP10 FZD2 GHR H19 HADHA HGD HSPG2 IFITM5 IGF2 IKBKG INPPL1 KDM1A KDM6A KIF1BP KMT2D KRAS LRP5 MAP3K7 MBTPS2 MFRP MVK NFIX NLRP3 NXN P4HB PAX1 PLOD1 POLR3A PPIB PPP1R15B PRDM5 PRKAR1A PRSS56 PSMB8 PTEN PYCR1 RAP1A RAP1B RMRP ROR2 SALL1 SEC24D SERPINH1 SLC26A2 SLC29A3 SLC39A13 SON TENT5A TGFB3 TGFBR1 TGFBR2 TRMT5 WNT1 WNT5A XYLT1 ZNF469

Diseases (96) :607364 758 177850 225410 176920 241500 93359 615349 271640 245600 130070 617101 614856 130080 1425 601776 605282 618150 287 166200 259420 166220 166210 286 130000 610682 763 857 36412 615539 3107 616894 3103 269000 268300 284979 613001 610968 633 262500 180860 56 203500 1865 610967 464 2746 616728 2322 147920 300867 609460 3339 2788 617137 2273 611040 29 610377 561 602535 575 1507 2050 615560 225400 264090 259440 616817 90354 614170 1359 613517 256040 2969 612940 614438 175 616294 613848 628 602782 157965 612350 500150 617952 615582 60030 609192 610168 616539 615220 615777 229200 193220 5
 

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