Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe size (HP:0100887)

..Starting node
..Abnormally large globe (HP:0001090)

Term ID:

1090

Name:

Abnormally large globe

Synonym:

Increased size of eyes; Increased size of palpebral fissures; Large eyeballs; Large eyes; Large of palpebral fissures; Megalophthalmos

Definition:

Diffusely large eye (with megalocornea) without glaucoma.

Comments:

Reference:

HP:0001090

Genes and Diseases:

Child Nodes:

........

Buphthalmos (HP:0000557)

........

Increased axial length of the globe (HP:0007800)

Sister Nodes:

Anophthalmia (HP:0000528)

Microphthalmia (HP:0000568)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001090	HP:0001090	Abnormally large globe	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0001090	HP:0001090	Abnormally large globe	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001090	HP:0001090	Abnormally large globe	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	.
HP:0001090	HP:0001090	Abnormally large globe	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0001090	HP:0001090	Abnormally large globe	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0001090	HP:0001090	Abnormally large globe	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0001090	HP:0001090	Abnormally large globe	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0001090	HP:0001090	Abnormally large globe	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0001090	HP:0001090	Abnormally large globe	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0001090	HP:0001090	Abnormally large globe	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0001090	HP:0001090	Abnormally large globe	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0001090	HP:0001090	Abnormally large globe	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0001090	HP:0001090	Abnormally large globe	0	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0001090	HP:0001090	Abnormally large globe	0	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0001090	HP:0001090	Abnormally large globe	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0001090	HP:0001090	Abnormally large globe	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0001090	HP:0001090	Abnormally large globe	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001090	HP:0001090	Abnormally large globe	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0001090	HP:0001090	Abnormally large globe	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0001090	HP:0001090	Abnormally large globe	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0001090	HP:0001090	Abnormally large globe	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0001090	HP:0001090	Abnormally large globe	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1		3
HP:0001090	HP:0001090	Abnormally large globe	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0001090	HP:0001090	Abnormally large globe	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0001090	HP:0001090	Abnormally large globe	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome		7
HP:0001090	HP:0001090	Abnormally large globe	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001090	HP:0001090	Abnormally large globe	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0001090	HP:0001090	Abnormally large globe	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0001090	HP:0001090	Abnormally large globe	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0001090	HP:0001090	Abnormally large globe	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive		4
HP:0001090	HP:0001090	Abnormally large globe	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001090	HP:0001090	Abnormally large globe	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0001090	HP:0001090	Abnormally large globe	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0001090	HP:0001090	Abnormally large globe	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0001090	HP:0001090	Abnormally large globe	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001090	HP:0001090	Abnormally large globe	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001090	HP:0001090	Abnormally large globe	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001090	HP:0001090	Abnormally large globe	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0001090	HP:0001090	Abnormally large globe	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0001090	HP:0001090	Abnormally large globe	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0001090	HP:0001090	Abnormally large globe	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0001090	HP:0001090	Abnormally large globe	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0001090	HP:0001090	Abnormally large globe	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001090	HP:0001090	Abnormally large globe	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies		22
HP:0001090	HP:0001090	Abnormally large globe	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001090	HP:0001090	Abnormally large globe	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001090	HP:0001090	Abnormally large globe	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0001090	HP:0001090	Abnormally large globe	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0001090	HP:0000557	Buphthalmos	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0001090	HP:0000557	Buphthalmos	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001090	HP:0000557	Buphthalmos	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0001090	HP:0000557	Buphthalmos	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0001090	HP:0007800	Increased axial length of the globe	1	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0001090	HP:0000557	Buphthalmos	1	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A	.	101
HP:0001090	HP:0000557	Buphthalmos	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040283 - Occasional	108
HP:0001090	HP:0000557	Buphthalmos	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0001090	HP:0007800	Increased axial length of the globe	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0001090	HP:0000557	Buphthalmos	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0001090	HP:0000557	Buphthalmos	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0001090	HP:0000557	Buphthalmos	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0001090	HP:0000557	Buphthalmos	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0001090	HP:0000557	Buphthalmos	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0001090	HP:0000557	Buphthalmos	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0001090	HP:0000557	Buphthalmos	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0001090	HP:0000557	Buphthalmos	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0001090	HP:0007800	Increased axial length of the globe	1	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive		4
HP:0001090	HP:0000557	Buphthalmos	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0001090	HP:0000557	Buphthalmos	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001090	HP:0000557	Buphthalmos	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0001090	HP:0000557	Buphthalmos	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0001090	HP:0000557	Buphthalmos	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0001090	HP:0000557	Buphthalmos	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0001090	HP:0000557	Buphthalmos	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0001090	HP:0000557	Buphthalmos	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0001090	HP:0000557	Buphthalmos	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0001090	HP:0000557	Buphthalmos	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001090	HP:0000557	Buphthalmos	1	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies	HP:0040283 - Occasional	22
HP:0001090	HP:0000557	Buphthalmos	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001090	HP:0000557	Buphthalmos	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001090	HP:0000557	Buphthalmos	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0001090	HP:0007800	Increased axial length of the globe	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8

Genes (42) :ADAMTSL1 AKT1 ALKBH8 ARX ATOH7 ATR B3GAT3 CASK CHST3 CHSY1 COL2A1 CPSF1 CYP1B1 DAG1 FBN1 FGFR2 FKRP FKTN FUT8 FZD4 GLIS3 GNAQ KCNJ1 KCNJ6 LARGE1 LRPAP1 MAB21L1 NCAPG2 NDP OCRL PIGV PIK3R2 POMGNT1 POMK POMT1 POMT2 PTEN PXDN SBF2 SH3PXD2B TWIST1 WDR26

Diseases (39) :ORPHA:521445 ORPHA:744 OMIM:618504 OMIM:300004 ORPHA:91495 OMIM:221900 OMIM:210600 OMIM:245600 OMIM:300749 ORPHA:363417 OMIM:200610 OMIM:618827 OMIM:231300 ORPHA:370997 OMIM:616538 OMIM:154700 OMIM:614592 OMIM:101400 OMIM:236670 OMIM:618005 OMIM:610199 OMIM:185300 OMIM:241200 ORPHA:435628 OMIM:614098 OMIM:615431 OMIM:618479 OMIM:618460 OMIM:310600 ORPHA:534 OMIM:239300 OMIM:603387 OMIM:253280 OMIM:615249 OMIM:613150 OMIM:269400 ORPHA:99956 OMIM:249420 ORPHA:513456

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

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