Human Phenotype Ontology 
Grandparent Node:
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Glaucoma (HP:0000501)help
Parent Node:
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Abnormally large globe (HP:0001090)help
Parent Node:
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Developmental glaucoma (HP:0001087)help
..Starting node
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Buphthalmos (HP:0000557)help
Term ID: 557
Name: Buphthalmos
Synonym: Enlarged eyeball
Definition: Diffusely large eye (with megalocornea) associated with glaucoma.
Comments:
Reference: HP:0000557
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLate onset congenital glaucoma (HP:0008041) help
..expandPrimary congenital glaucoma (HP:0008007) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000557HP:0000557Buphthalmos0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000557HP:0000557Buphthalmos0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000557HP:0000557Buphthalmos0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000557HP:0000557Buphthalmos0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000557HP:0000557Buphthalmos0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0000557HP:0000557Buphthalmos0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040283 - Occasional108
HP:0000557HP:0000557Buphthalmos0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000557HP:0000557Buphthalmos0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000557HP:0000557Buphthalmos0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000557HP:0000557Buphthalmos0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000557HP:0000557Buphthalmos0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000557HP:0000557Buphthalmos0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000557HP:0000557Buphthalmos0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0000557HP:0000557Buphthalmos0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0000557HP:0000557Buphthalmos0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000557HP:0000557Buphthalmos0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000557HP:0000557Buphthalmos0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000557HP:0000557Buphthalmos0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000557HP:0000557Buphthalmos0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000557HP:0000557Buphthalmos0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000557HP:0000557Buphthalmos0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000557HP:0000557Buphthalmos0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000557HP:0000557Buphthalmos0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000557HP:0000557Buphthalmos0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000557HP:0000557Buphthalmos0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000557HP:0000557Buphthalmos0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0000557HP:0000557Buphthalmos0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000557HP:0000557Buphthalmos0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000557HP:0000557Buphthalmos0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (25) :ADAMTSL1 AKT1 ATOH7 CYP1B1 DAG1 FGFR2 FKRP FKTN FUT8 FZD4 GLIS3 GNAQ LARGE1 MAB21L1 NCAPG2 NDP OCRL POMGNT1 POMT1 POMT2 PTEN PXDN SBF2 SH3PXD2B TWIST1

Diseases (21) :ORPHA:521445 ORPHA:744 ORPHA:91495 OMIM:221900 OMIM:231300 ORPHA:370997 OMIM:616538 OMIM:101400 OMIM:236670 OMIM:618005 OMIM:610199 OMIM:185300 OMIM:618479 OMIM:618460 OMIM:310600 ORPHA:534 OMIM:253280 OMIM:613150 OMIM:269400 ORPHA:99956 OMIM:249420
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.