| Diseases |
Alias |
|
| Anterior Segment Dysgenesis 2 |
|
Congenital Primary Aphakia
|
Aphakia, Congenital Primary
|
|
Cpa
|
ASGD2
|
|
Cpak
|
Anterior Segment Dysgenesis 2, Multiple Subtypes
|
|
Dysgenesis, Anterior Segment, Type 2
|
|
|
| Cataract 34, Multiple Types |
|
Cataract, Autosomal Recessive Congenital 3
|
Cataract 34 Multiple Types
|
|
CTRCT34
|
Catc3
|
|
Cataract 34, Multiple Types, With Or Without Microcornea
|
Autosomal Recessive Congenital Cataract 3
|
|
Cataract 34 Multiple Types With Or Without Microcornea
|
Cataract, Multiple Types, Type 34
|
|
|
| Aortic Aneurysm, Familial Thoracic 11 |
|
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
|
AAT11
|
|
Aneurysm, Aortic, Thoracic, Familial, Type 11
|
{Aortic Aneurysm, Familial Thoracic 11, Susceptibility To}
|
|
|
| Anterior Segment Dysgenesis |
|
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Anterior Segment Dysgenesis 1 |
|
Anterior Segment Mesenchymal Dysgenesis
|
Anterior Segment Dysgenesis 1, Multiple Subtypes
|
|
ASGD1
|
Asmd
|
|
Anterior Segment Ocular Dysgenesis
|
Asod
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Ocular Anterior Segment Dysgenesis
|
|
Dysgenesis, Anterior Segment, Type 1
|
Axenfeld-Rieger Syndrome, Type 3
|
|
Irido-Corneal Dysgenesis
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
Thoracic Aortic Aneurysm
|
Annuloaortic Ectasia
|
|
Familial Thoracic Aortic Aneurysm And Aortic Dissection
|
Familial Aortic Dissection
|
|
Familial Taad
|
Familial Thoracic Aortic Aneurysm
|
|
Congenital Aneurysm Of Ascending Aorta
|
Familial Aortic Aneurysm
|
|
Familial Thoracic Aortic Aneurysm And Dissection
|
Aortic Aneurysm, Thoracic
|
|
AAT1
|
Faa1
|
|
Aortic Dissection, Familial
|
Aortic Aneurysm, Familial Thoracic
|
|
Aneurysm, Thoracic Aortic
|
Faa
|
|
Ftaad
|
Taa
|
|
Taad
|
Cystic Medial Necrosis Of Aorta
|
|
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection
|
Aortic Aneurysm Thoracic
|
|
Familial Aortic Aneurysms
|
Aneurysm, Aortic, Thoracic, Familial, Type 1
|
|
Aneurysm Of Thoracic Aorta
|
Intrathoracic Aneurysm
|
|
Thoracic Aorta Aneurysm
|
Thoracic Aortic Aneurysm Without Rupture
|
|
Thoracic Aneurysm
|
Thorax Arterial Aneurysm
|
|
Thoracic Artery Aneurysm
|
Thoracic Arterial Aneurysm
|
|
Thorax Aneurysm
|
Thorax Aortic Aneurysm
|
|
Dissection Of Thoracic Aorta
|
|
|
| Congenital Aphakia |
|
Congenital Absence Of Lens
|
Aphakia, Congenital Primary
|
|
Agenesis Of Lens
|
|
|
| Axenfeld-Rieger Syndrome, Type 3 |
|
Axenfeld-Rieger Syndrome Type 3
|
RIEG3
|
|
Anterior Chamber Cleavage Syndrome
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss
|
Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss
|
|
Rieger Syndrome Type 3
|
Axenfeld-Rieger Anomaly
|
|
Rieger Syndrome, Type 3
|
Axenfeld-Rieger Syndrome 3
|
|
Axenfeld Anomaly
|
Rieger Anomaly
|
|
Rieger Syndrome
|
Rieger Eye Malformation Sequence
|
|
|
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Midas Syndrome
|
Mcops7
|
|
Mls Syndrome
|
Microphthalmia, Syndromic 7
|
|
Microphthalmia With Linear Skin Defects Syndrome
|
Microphthalmia With Linear Skin Defects
|
|
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome
|
Syndromic Microphthalmia Type 7
|
|
LSDMCA1
|
Mls
|
|
Microphthalmia, Dermal Aplasia, And Sclerocornea
|
Microphthalmia With Linear Skin Defect Syndrome
|
|
Syndromic Microphthalmia 7
|
Linear Skin Defects With Multiple Congenital Anomalies
|
|
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome
|
Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
|
|
Micropthalmia Syndromic 7
|
Microphthalmia Syndromic 7
|
|
Microphthalmia With Linear Skin Lesions Syndrome
|
Syndromic Microphthalmia-7
|
|
Microphthalmia, Dermal Aplasia And Sclerocornea
|
Microphthalmia, Syndromic, 7
|
|
Midas
|
|
|
| Sclerocornea |
|
Isolated Congenital Sclerocornea
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Frontonasal Dysplasia 1 |
|
Frontorhiny
|
Frontonasal Dysplasia
|
|
Fnd
|
Frontonasal Malformation
|
|
Fnm
|
Median Facial Cleft Syndrome
|
|
Midline Facial Cleft
|
FND1
|
|
Median Cleft Face Syndrome
|
Median Cleft Syndrome
|
|
Frontonasal Dysplasia Sequence
|
Median Facial Cleft
|
|
Tessier Number 0-14 And 30 Facial Cleft
|
Alx3-Related Frontonasal Dysplasia
|
|
Frontonasal Dysplasia Type 1
|
Isolated Median Cleft Face Syndrome
|
|
Doid:0081044
|
Doid:0081045
|
|
Dysplasia, Frontonasal, Type
|
|
|
| Isolated Microphthalmia |
|
|
| Iris Disease |
|
|
| Axenfeld-Rieger Syndrome |
|
Axenfeld Syndrome
|
Rieger Syndrome
|
|
Rieger Anomaly
|
Axenfeld Anomaly
|
|
Anomaly, Rieger'S
|
Hagedoom Syndrome
|
|
Rgs - Rieger Syndrome
|
Rieger'S Anomaly
|
|
Goniodysgenesis Hypodontia
|
Iridogoniodysgenesis With Somatic Anomalies
|
|
Ars
|
Axenfeld And Rieger Anomaly
|
|
Axra
|
Axrs
|
|
Rieger Eye Malformation Sequence
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Corneal Staphyloma |
|
Staphyloma Of Cornea
|
Congenital Staphyloma
|
|
|
| Corneal Endothelial Dystrophy |
|
Congenital Hereditary Endothelial Dystrophy Of Cornea
|
Chandler Syndrome
|
|
CHED
|
Chandler'S Syndrome
|
|
Endothelial Corneal Dystrophy
|
Ched2
|
|
Maumenee Corneal Dystrophy
|
Corneal Dystrophy, Congenital Hereditary Endothelial
|
|
Dystrophy Of Corneal Endothelium
|
Corneal Endothelial Dystrophy 2
|
|
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly
|
Ched2, Formerly
|
|
Corneal Endothelial Dystrophy, Autosomal Recessive
|
Endothelial Dystrophy
|
|
Posterior Membrane Corneal Dystrophy
|
Corneal Endothelial Dystrophy Type 2
|
|
Congenital Hereditary Endothelial Dystrophy Of The Cornea
|
Congenital Hereditary Endothelial Dystrophy Type Ii
|
|
Autosomal Recessive Ched
|
Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
|
|
Chedii
|
Congenital Hereditary Endothelial Dystrophy Type 2
|
|
Infantile Hereditary Endothelial Dystrophy
|
Congenital Hereditary Endothelial Corneal Dystrophy
|
|
Corneal Endothelial Dystrophy 2, Autosomal Recessive
|
Iridocorneal Endothelial Syndrome
|
|
Dystrophy, Corneal, Endothelial
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant
|
|
|
| Lens Disease |
|
|
| Aniseikonia |
|
|
| Primary Congenital Glaucoma |
|
|
| Deprivation Amblyopia |
|
Disuse Amblyopia
|
Stimulus Deprivation Amblyopia
|
|
|
| Brain Small Vessel Disease |
|
|
| Factor X Deficiency |
|
Stuart-Prower Factor Deficiency
|
F10 Deficiency
|
|
Congenital Stuart Factor Deficiency
|
Factor X Deficiency, Congenital
|
|
Congenital Factor X Deficiency
|
Disease, Stuart-Prower
|
|
Stuart Factor Deficiency, Congenital
|
FA10D
|
|
Factor 10 Deficiency
|
Deficiency, Factor X
|
|
Hereditary Factor X Deficiency Disease
|
Deficiency Of Factor X
|
|
Stuart Deficiency Disease
|
Stuart Prower Deficiency
|
|
Stuart-Prower Disease
|
|
|
| Presbyopia |
|
Subnormal Accommodation
|
Accommodation Insufficiency Of Old Age
|
|
|
| Cornea Plana |
|
|
| Juvenile Glaucoma |
|
Glaucoma Of Childhood
|
Hydrophthalmos
|
|
|
| Hydrophthalmos |
|
|
| Orbital Cyst |
|
|
| Trichohepatoenteric Syndrome 1 |
|
Trichohepatoenteric Syndrome
|
Syndromic Diarrhea
|
|
Tricho-Hepato-Enteric Syndrome
|
Sd/The
|
|
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome
|
THES1
|
|
Phenotypic Diarrhea
|
Thes
|
|
Phenotypic Diarrhea Of Infancy
|
Diarrhea, Syndromic
|
|
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa
|
Intractable Diarrhea With Phenotypic Anomalies
|
|
Syndromatic Diarrhea
|
Fatal Infantile Diarrhea With Trichorrhexis Nodosa
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Microphthalmia, Syndromic 3 |
|
MCOPS3
|
Aeg Syndrome
|
|
Microphthalmia And Esophageal Atresia Syndrome
|
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
|
|
Anophthalmia-Esophageal-Genital Syndrome
|
Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
|
|
Syndromic Microphthalmia 3
|
Sox2 Anophthalmia Syndrome
|
|
Anophthalmia Clinical With Associated Anomalies
|
Anophthalmia Esophageal Genital Syndrome
|
|
Anophthalmia Microphthalmia Esophageal Atresia
|
Syndromic Microphthalmia Type 3
|
|
Sox2-Related Eye Disorders
|
Anophthalmia, Clinical, With Associated Anomalies
|
|
Syndromic Microphthalmia, Type 3
|
Microphthalmia, Syndromic, 3
|
|
Anophthalmia/Microphthalmia-Esophageal Atresia
|
Microphthalmia Syndromic, Type 3
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome
|
BPES
|
|
Blepharophimosis Syndrome
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
|
|
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
|
Bpes With Duane Retraction Syndrome
|
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2
|
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
|
|
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2
|
Bpes Type 2
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
|
|
3q23 Microdeletion Syndrome
|
Bpes Plus
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1
|
Bpes Type 1
|
|
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure
|
Blepharophimosis, Ptosis, Epicanthus Inversus
|
|
Autosomal Dominant Bpes Type I
|
Autosomal Recessive Bpes Type I
|
|
Bpes Type I
|
Bpes Type Ii
|
|
Bpes Without Ovarian Failure
|
Bpes With Ovarian Failure
|
|
Blepharophimosis Syndrome Type 1
|
Blepharophimosis Syndrome Type 2
|
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Wagr Syndrome
|
11p Partial Monosomy Syndrome
|
|
Chromosome 11p13 Deletion Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
|
|
11p Deletion Syndrome
|
Chromosome 11p Deletion Syndrome
|
|
Wagr Complex
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
|
|
Deletion 11p13
|
WAGR
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
|
Chromosome 11p Deletion
|
|
11p Deletion
|
11p Monosomy
|
|
Deletion 11p
|
Monosomy 11p
|
|
Partial Monosomy 11p
|
Agr Triad
|
|
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
|
|
Wagr Contiguous Gene Syndrome
|
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome
|
Del(11)(P13)
|
|
Monosomy 11p13
|
Chromosome 11, Deletion 11p
|
|
|
| Branchiooculofacial Syndrome |
|
Branchio-Oculo-Facial Syndrome
|
BOFS
|
|
Bof Syndrome
|
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
|
|
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
|
Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
|
|
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
|
Bofs Syndrome
|
|
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
|
|
|
| Syndromic Microphthalmia |
|
Microphthalmia, Syndromic
|
|
|
| Corneal Disease |
|
Corneal Diseases
|
Corneal Disorders
|
|
|
| Lens Subluxation |
|
|
| Amblyopia |
|
|
| Loeys-Dietz Syndrome |
|
Loeys-Dietz Aortic Aneurysm Syndrome
|
Lds
|
|
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies
|
Furlong Syndrome
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Nanophthalmos |
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
