PAX6 - paired box 6 Gene

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

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

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

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

Coloboma Of Iris, Choroid, And Retina

Coi

Coloboma, Uveoretinal

COAD

Ocular Coloboma

Uveoretinal Coloboma

Chronic Obstructive Airway Disease

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, Multiple Subtypes

ASGD5

Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes

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

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

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

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

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

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

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency

Eyelid Coloboma

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

Coloboma Of Choroid And Retina

Retinal Coloboma

Choroidal Coloboma

Chorioretinal Coloboma

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

AN2

Aniridia Type 2

Aniridia, Type 2

Nystagmus, Congenital

Nystagmus Congenital

Ectropion Of Eyelid

Everted Margin

Eversion Of The Eyelid

Eyelashes Turned Out

Eyelid Everted

Eyelid Turned Out

Unspecified Ectropion Of Unspecified Eye

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 Diseases

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

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

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

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

AMS

Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

Eye Abnormalities

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

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

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

Isolated Microphthalmia 3

MCOP3

Microphthalmia, Isolated, 3

Isolated Clinical Anophthalmia

Microphthalmia, Isolated, Type 3

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens

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 Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

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

Nystagmus

Lens Diseases

Uveal Diseases

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

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

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

Isolated Congenital Sclerocornea

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, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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

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

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

Isolated Microphthalmia 2

MCOP2

Anophthalmia, Clinical, Isolated

Microphthalmia, Isolated, 2

Isolated Clinical Anophthalmia

Microphthalmia, Isolated, Type 2

Disorder Of Vitreous Body

Subluxation Of Lens

Congenital Blepharoptosis

Congenital Eyelid Ptosis

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

Glaucoma Of Childhood

Hydrophthalmos

Corneal Diseases

Corneal Disorders

Refractive Errors

Lazy Eye

Germ Cell And Embryonal Neoplasm

Microphthalmia, Syndromic

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

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

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

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

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Leucocoria

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

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 Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

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

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Eyelid Diseases

Eyelid Disorders

Disorder Of Visual Pathways

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

FS

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

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 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

Nanophthalmia

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

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

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 Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Physical Illness

NYS3

Congenital Nystagmus 3

Autosomal Dominant Congenital Nystagmus 3

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

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

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 Vision Deficiencies

Acquired Color Vision Deficiency

Acquired Colour Blindness

Acquired Colour Vision Deficiencies

Acquired Colour Vision Deficiency

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

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

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Chromosomal Disorders

Congenital Chromosomal Disease

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

True Microcephaly

Microcephaly, Primary

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 Sequence

Hpe

Hpe - [Holoprosencephaly]

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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

Cleft, Orofacial

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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

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

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

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