| Diseases |
Alias |
|
| Coloboma Of Optic Nerve |
|
Morning Glory Disc Anomaly
|
Coloboma Of Optic Disc
|
|
Morning Glory Syndrome
|
Ectasic Coloboma
|
|
Coloboma Of Optic Papilla
|
Congenital Coloboma Of The Optic Nerve
|
|
Optic Nerve Coloboma
|
Optic Nerve Head Pits, Bilateral Congenital
|
|
Volubilis Syndrome
|
COLON
|
|
Coloboma Of Optic Disc, Unspecified Eye
|
Congenital Coloboma Of Optic Disc
|
|
Optic Disk Coloboma
|
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
Optic Nerve Hypoplasia
|
Bilateral Optic Nerve Hypoplasia
|
|
Optic Nerve Hypoplasia, Familial Bilateral
|
Familial Bilateral Optic Nerve Hypoplasia
|
|
Isolated Optic Nerve Hypoplasia/Aplasia
|
Optic Nerve Aplasia, Bilateral
|
|
Onh
|
BONH
|
|
Bilateral Optic Nerve Aplasia
|
Hypoplasia, Optic Nerve, Bilateral
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| 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
|
|
|
| Coloboma, Ocular, Autosomal Dominant |
|
Coloboma, Ocular
|
Coloboma Of Iris, Choroid, And Retina
|
|
Coi
|
Coloboma, Uveoretinal
|
|
COAD
|
Ocular Coloboma
|
|
Uveoretinal Coloboma
|
Chronic Obstructive Airway Disease
|
|
|
| Foveal Hypoplasia 1 |
|
FVH1
|
Foveal Hypoplasia 1 With Or Without Anterior Segment Anomalies And/Or Cataract
|
|
Foveal Hypoplasia And Presenile Cataract Syndrome
|
Foveal Hypoplasia With Or Without Anterior Segment Anomalies And/Or Cataract
|
|
O'Donnell Pappas Syndrome
|
|
|
| Anterior Segment Dysgenesis 5 |
|
Anterior Segment Dysgenesis 5, Multiple Subtypes
|
ASGD5
|
|
Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| O Donnell Pappas Syndrome |
|
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, And Presenile Cataracts
|
Foveal Hypoplasia, Presenile Cataract
|
|
Foveal Hypoplasia-Presenile Cataract Syndrome
|
O'Donnell-Pappas Syndrome
|
|
O'Donnell Pappas Syndrome
|
|
|
| Gillespie Syndrome |
|
GLSP
|
Aniridia, Cerebellar Ataxia And Mental Deficiency
|
|
Aniridia Cerebellar Ataxia Mental Deficiency
|
Aniridia, Cerebellar Ataxia, And Mental Retardation
|
|
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
|
Aniridia-Cerebellar Ataxia-Intellectual Disability
|
|
Aniridia-Cerebellar Ataxia-Mental Deficiency
|
Partial Aniridia-Cerebellar Ataxia-Oligophrenia
|
|
Aniridia, Cerebellar Ataxia, And Intellectual Disability
|
|
|
| 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
|
|
|
| Colobomatous Microphthalmia |
|
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
|
| Isolated Aniridia |
|
|
| Coloboma Of Eyelid |
|
|
| Coloboma Of Eye Lens |
|
|
| Coloboma Of Iris |
|
Iris Coloboma
|
Cleft Iris
|
|
Congenital Coloboma Of Iris
|
Notched Iris
|
|
Coloboma Nos
|
Coloboma Of Iris, Choroid And Retina
|
|
Coloboma Of Eye
|
Congenital Ocular Coloboma
|
|
Ocular Coloboma
|
|
|
| Retinochoroidal Coloboma |
|
Coloboma Of Choroid And Retina
|
Retinal Coloboma
|
|
Choroidal Coloboma
|
Chorioretinal Coloboma
|
|
|
| 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
|
|
|
| Aniridia 2 |
|
AN2
|
Aniridia Type 2
|
|
Aniridia, Type 2
|
|
|
| Congenital Nystagmus |
|
Nystagmus, Congenital
|
Nystagmus Congenital
|
|
|
| Developmental Defect Of The Eye |
|
|
| Ectropion |
|
Ectropion Of Eyelid
|
Everted Margin
|
|
Eversion Of The Eyelid
|
Eyelashes Turned Out
|
|
Eyelid Everted
|
Eyelid Turned Out
|
|
Unspecified Ectropion Of Unspecified Eye
|
|
|
| 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
|
|
|
| Iris Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Keratopathy |
|
|
| Dopamine Beta-Hydroxylase Deficiency |
|
Noradrenaline Deficiency
|
Norepinephrine Deficiency
|
|
Dopamine Beta Hydroxylase Deficiency
|
Congenital Dopamine Beta-Hydroxylase Deficiency
|
|
Dopamine Beta-Hydroxylase Deficiency, Congenital
|
Dopamine Β-Hydroxylase
|
|
Dbh Deficiency
|
|
|
| Ablepharon-Macrostomia Syndrome |
|
Ablepharon Macrostomia Syndrome
|
AMS
|
|
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies
|
Eye Abnormalities
|
|
|
| Hypertelorism |
|
Eyes Wide Apart
|
Eyes Widely Set
|
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
|
Orbital Separation Excessive
|
|
|
| Intestinal Atresia |
|
|
| Fryns Microphthalmia Syndrome |
|
Anophthalmia
|
Microphthalmia With Facial Clefting
|
|
Anophthalmia Plus Syndrome
|
Leichtman Wood Rohn Syndrome
|
|
Anophthalmia-Plus Syndrome
|
Anophthalmia, Cleft Lip/Palate, Facial Anomalies, And Cns Anomalies And Hypothalamic Disorder
|
|
Fryns Anophthalmia Syndrome
|
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
Glaucoma
|
IOPQTL
|
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
|
Glaucoma Secondary To Drugs
|
|
|
| Microphthalmia, Isolated 3 |
|
Isolated Microphthalmia 3
|
MCOP3
|
|
Microphthalmia, Isolated, 3
|
Isolated Clinical Anophthalmia
|
|
Microphthalmia, Isolated, Type 3
|
|
|
| Congenital Aphakia |
|
Congenital Absence Of Lens
|
Aphakia, Congenital Primary
|
|
Agenesis Of Lens
|
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Microphthalmia, Syndromic 8 |
|
MCOPS8
|
Mmep Syndrome
|
|
Mmep
|
Syndromic Microphthalmia Type 8
|
|
Viljoen-Smart Syndrome
|
Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism
|
|
Syndromic Microphthalmia 8
|
Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome
|
|
Microphthalmia Syndromic 8
|
Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism
|
|
Viljoen Smart Syndrome
|
Microphthalmia, Syndromic, 8
|
|
Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism
|
|
|
| Pathologic Nystagmus |
|
|
| Lens Disease |
|
|
| Uveal Disease |
|
|
| Glucose Intolerance |
|
Glucose: Intolerance
|
Glucose: Malabsorption
|
|
Malabsorption Of Glucose
|
Impaired Glucose Tolerance
|
|
|
| Retinal Detachment |
|
Retinal Detachments
|
Rhegmatogenous Retinal Detachment
|
|
Ruptured Retina With Detachment
|
Retinal Hole With Detachment
|
|
|
| Valproate Embryopathy |
|
Fetal Valproate Syndrome
|
Fetal Valproic Acid Syndrome
|
|
Fvs
|
Valproic Acid Embryopathy
|
|
Fetal Valproate Spectrum Disorder
|
Valproate Embryopathy, Susceptibility To
|
|
Foetal Valproate Syndrome
|
Foetal Valproic Acid Syndrome
|
|
Susceptibility To Valproate Embryopathy
|
Valproic Acid Antenatal Infection
|
|
|
| Corneal Dystrophy |
|
|
| Persistent Hyperplastic Primary Vitreous |
|
Congenital Retinal Detachment
|
Ncrna Disease
|
|
Non-Syndromic Congenital Retinal Non-Attachment
|
Pfvs
|
|
Phpv
|
Persistent Fetal Vasculature Syndrome
|
|
|
| Sclerocornea |
|
Isolated Congenital Sclerocornea
|
|
|
| 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
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Wilms Tumor 5 |
|
Wilms Tumor
|
WT5
|
|
Wilms Tumor Susceptibility-5
|
Wilms Tumor And Radial Bilateral Aplasia
|
|
Nephroblastoma
|
Wilms' Tumor
|
|
Wilms Tumor, Susceptibility To
|
Wtsl
|
|
Bilateral Radial Aplasia With Wilms Tumor
|
Embryonal Adenosarcoma
|
|
Embryonal Nephroma
|
Kidney Wilms Tumor
|
|
Kidney, Adenomyosarcoma, Embryonal
|
Kidney, Carcinosarcoma, Embryonal
|
|
Kidney, Embryoma
|
Kidney, Embryonal Mixed Tumor
|
|
Nephroma
|
Renal Adenosarcoma
|
|
Renal Cancer, Wilms
|
Renal Wilms Tumor
|
|
Tumor, Wilms
|
Hereditary Susceptibility To Wilms Tumor 5
|
|
|
| Hypopituitarism |
|
Pituitary Hypofunction
|
Pituitary Insufficiency
|
|
Pituitary Hormone Deficiency
|
Subpituitarism
|
|
Hypophyseal Dystrophy
|
Hypohypophysism
|
|
Anterior Pituitary Insufficiency
|
Deficient Secretion Of One Or More Pituitary Hormones
|
|
Hypopituitarism Syndrome
|
Pituitary Deficiency
|
|
Pituitary Failure
|
Pituitary Insufficiency Nos
|
|
Anterior Pituitary Hypofunction
|
Deficient Secretion Of All Pituitary Hormones
|
|
Hypopituitary Dwarfism
|
Hyposomatotropic Dwarfism
|
|
Hypophyseal Dwarfism
|
Hypopituitary Cachexia
|
|
Hypophyseal Short Stature
|
Panhypopituitarism Syndrome
|
|
Pituitary Cachexia
|
Juvenile Hypopituitarism
|
|
Pituitary Dwarfism
|
Pituitary Gland Hypofunction
|
|
Primary Hypopituitarism
|
Secondary Hypogonadism
|
|
Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
|
Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
|
Pituitary Short Stature
|
Pituitary Infantilism
|
|
Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
|
| Microphthalmia, Syndromic 6 |
|
MCOPS6
|
Microphthalmia And Pituitary Anomalies
|
|
Microphthalmia With Brain And Digit Anomalies
|
Microphthalmia With Brain And Digit Developmental Anomalies
|
|
Syndromic Microphthalmia Type 6
|
Syndromic Microphthalmia 6
|
|
Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia
|
Bakrania-Ragge Syndrome
|
|
Orofacial Cleft 11
|
Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
|
|
Microphthalmia Syndromic 6
|
Microphthalmia, Syndromic, 6
|
|
Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia
|
Microphthalmia Syndromic, Type 6
|
|
|
| Microphthalmia, Isolated 2 |
|
Isolated Microphthalmia 2
|
MCOP2
|
|
Anophthalmia, Clinical, Isolated
|
Microphthalmia, Isolated, 2
|
|
Isolated Clinical Anophthalmia
|
Microphthalmia, Isolated, Type 2
|
|
|
| Vitreous Disease |
|
Disorder Of Vitreous Body
|
|
|
| Lens Subluxation |
|
|
| Congenital Ptosis |
|
Congenital Blepharoptosis
|
Congenital Eyelid Ptosis
|
|
|
| Papillorenal Syndrome |
|
Renal Coloboma Syndrome
|
Coloboma Of Optic Nerve With Renal Disease
|
|
Renal-Coloboma Syndrome
|
Optic Nerve Coloboma With Renal Disease
|
|
Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
|
Renal-Coloboma Syndrome With Macular Abnormalities
|
|
Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
|
Cakut With Or Without Ocular Abnormalities
|
|
PAPRS
|
Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies
|
|
Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease
|
Coloboma-Ureteral-Renal Syndrome
|
|
Oncr
|
Optic Nerve Coloboma Renal Syndrome
|
|
Rcs
|
Papillo-Renal Syndrome
|
|
Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
|
|
|
| Juvenile Glaucoma |
|
Glaucoma Of Childhood
|
Hydrophthalmos
|
|
|
| Hydrophthalmos |
|
|
| Corneal Disease |
|
Corneal Diseases
|
Corneal Disorders
|
|
|
| Primary Congenital Glaucoma |
|
|
| Refractive Error |
|
|
| Amblyopia |
|
|
| Germ Cell And Embryonal Cancer |
|
Germ Cell And Embryonal Neoplasm
|
|
|
| Syndromic Microphthalmia |
|
Microphthalmia, Syndromic
|
|
|
| Macular Degeneration, Age-Related, 7 |
|
Age Related Macular Degeneration 7
|
ARMD7
|
|
Macular Degeneration, Age-Related, Neovascular Type
|
Susceptibility To Neovascular Type Of Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related, Type 7
|
|
|
| Double Pterygium |
|
|
| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
|
Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
|
Brain Medulloblastoma
|
Cns Pnet
|
|
Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
|
Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
|
Medullomyoblastoma Of Unspecified Site
|
|
|
| Anisometropia |
|
|
| Exotropia |
|
Divergent Concomitant Strabismus
|
Divergent Strabismus
|
|
Divergent Squint
|
External Strabismus
|
|
Xt - [Exotropia]
|
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Leukocoria |
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| 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
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Germ Cell Cancer |
|
Malignant Germ Cell Tumor
|
Neoplasms, Germ Cell And Embryonal
|
|
Germ Cell Neoplasm
|
Germ Cell Tumour
|
|
Malignant Tumor Of The Germ Cell
|
Neoplasms Germ Cell
|
|
Malignant Germ Cell Neoplasm
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Visual Pathway Disease |
|
Disorder Of Visual Pathways
|
|
|
| Congenital Disorder Of Glycosylation, Type Iim |
|
CDG2M
|
Congenital Disorder Of Glycosylation Type Iim
|
|
Slc35a2-Cdg
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Cdg-Iim
|
Cdg Iim
|
|
Cdgiim
|
Developmental And Epileptic Encephalopathy 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation Type 2m
|
|
Cdg Syndrome Type Iim
|
Dee22
|
|
Slc35a2-Congenital Disorder Of Glycosylation
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation 2m
|
|
Congenital Disorder Of Glycosylation X-Linked
|
Glycosylation, Congenital Disorder Of, Type Iim
|
|
|
| Frasier Syndrome |
|
|
| Pancreatic Agenesis |
|
Partial Pancreatic Agenesis
|
Congenital Pancreatic Agenesis
|
|
Partial Agenesis Of The Pancreas
|
Agenesis, Pancreatic
|
|
Pancreatic Agenesis, Congenital
|
|
|
| Denys-Drash Syndrome |
|
Drash Syndrome
|
DDS
|
|
Nephropathy, Wilms Tumor, And Genital Anomalies
|
Wilms Tumor And Pseudohermaphroditism
|
|
Wilms Tumor And Pseudo- Or True Hermaphroditism
|
Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
|
|
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor
|
Wilms Tumor-Dsd Syndrome
|
|
Wilms Tumor-Disorder Of Sex Development Syndrome
|
|
|
| Fetal Alcohol Syndrome |
|
Fetal Alcohol Spectrum Disorders
|
Arbd
|
|
Arnd
|
Alcohol-Related Birth Defects
|
|
Alcohol-Related Neurodevelopmental Disorder
|
Fas
|
|
Fasd
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk
|
|
Alcohol Related Birth Defect
|
Alcohol Related Neurodevelopmental Disorder
|
|
Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk
|
|
Dysmorphism Due To Alcohol
|
Fetal Etoh Syndrome
|
|
|
| Nanophthalmos |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Sensory System Disease |
|
|
| Septooptic Dysplasia |
|
Septo-Optic Dysplasia
|
De Morsier Syndrome
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
|
Pituitary Hormone Deficiency, Combined, 5
|
Septo-Optic Dysplasia Spectrum
|
|
Septo-Optic Dysplasia With Growth Hormone Deficiency
|
Pituitary Hormone Deficiency, Combined 5
|
|
Hypopituitarism And Septooptic 'Dysplasia'
|
GHDPA
|
|
CPHD5
|
Dysplasia, Septo-Optic
|
|
Kallmann Syndrome
|
|
|
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Severe Congenital Encephalopathy Due To Mecp2 Mutation
|
Severe Neonatal-Onset Encephalopathy With Microcephaly
|
|
Encephalopathy, Neonatal Severe
|
Neonatal Severe Encephalopathy Due To Mecp2 Mutations
|
|
Mecp2-Related Severe Neonatal Encephalopathy
|
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
|
|
Severe Neonatal Encephalopathy Due To Mecp2 Mutations
|
ENS-MECP2
|
|
Encephalopathy, Neonatal, Severe
|
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Physical Disorder |
|
|
| Nystagmus 3, Congenital, Autosomal Dominant |
|
NYS3
|
Congenital Nystagmus 3
|
|
Autosomal Dominant Congenital Nystagmus 3
|
|
|
| Wilms Tumor 1 |
|
Nephroblastoma
|
Wilms Tumor
|
|
WT1
|
Wilms' Tumor
|
|
Bilateral Wilms Tumor
|
Wilms Tumor, Type 1
|
|
Wilms Tumor, Somatic
|
Adult Nephroblastoma
|
|
Wt1 Disorder
|
Renal Embryonic Tumor
|
|
Adult Kidney Wilms Tumor
|
Childhood Kidney Wilms Tumor
|
|
Nonanaplastic Kidney Wilms Tumor
|
|
|
| Permanent Neonatal Diabetes Mellitus |
|
Pndm
|
Permanent Diabetes Mellitus Of Infancy
|
|
Pdmi
|
Neonatal Diabetes Mellitus, Permanent
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| Acquired Color Blindness |
|
Acquired Color Vision Deficiencies
|
Acquired Color Vision Deficiency
|
|
Acquired Colour Blindness
|
Acquired Colour Vision Deficiencies
|
|
Acquired Colour Vision Deficiency
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability 31
|
Autosomal Dominant Mental Retardation 31
|
|
Mrd31
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Maturity-Onset Diabetes Of The Young |
|
MODY
|
Maturity Onset Diabetes Mellitus In Young
|
|
Mason-Type Diabetes
|
Mason Type Diabetes
|
|
Maturity Onset Diabetes Of The Young
|
Mody Syndrome
|
|
Diabetes Of The Young, Maturity-Onset
|
|
|
| Eye Degenerative Disease |
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Glaucoma, Primary Open Angle |
|
Glaucoma 1, Open Angle, E
|
Primary Open Angle Glaucoma
|
|
POAG
|
Adult-Onset Primary Open Angle Glaucoma
|
|
Chronic Simple Glaucoma
|
GLC1E
|
|
Primary Open Angle Glaucoma 1e
|
Glaucoma, Open Angle, Primary
|
|
|
| Specific Developmental Disorder |
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Exudative Vitreoretinopathy 1 |
|
Retinopathy Of Prematurity
|
Retrolental Fibroplasia
|
|
EVR1
|
Criswick-Schepens Syndrome
|
|
Rop
|
Exudative Vitreoretinopathy, Familial, Autosomal Dominant
|
|
Fevr, Autosomal Dominant
|
Premature Retinopathy
|
|
Vitreoretinopathy, Exudative 1
|
Autosomal Dominant Familial Exudative Vitreoretinopathy
|
|
Fevr
|
Vitreoretinopathy, Exudative, Type 1
|
|
Retinopathy Of Prematurity Nos
|
Rlf- [Retrolental Fibroplasia]
|
|
Rop - [Retinopathy Of Prematurity]
|
Terry Syndrome
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
|
Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
Rolandic Epilepsy
|
Benign Rolandic Epilepsy
|
|
Epilepsy, Rolandic
|
Bcects
|
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
|
Becrs
|
Bects
|
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
| Orofacial Cleft |
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
