| 疾病名称 |
别名 |
|
| Microphthalmia, Isolated 2 |
|
Isolated Microphthalmia 2
|
MCOP2
|
|
Anophthalmia, Clinical, Isolated
|
Microphthalmia, Isolated, 2
|
|
Isolated Clinical Anophthalmia
|
Microphthalmia, Isolated, Type 2
|
|
|
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia With Coloboma 3
|
MCOPCB3
|
|
Microphthalmia, Cataracts, And Iris Abnormalities
|
Microphthalmia, Colobomatous, Isolated 3
|
|
Microphthalmia With Cataracts And Iris Abnormalities
|
MCOPCTI
|
|
Microphthalmia, Isolated, With Coloboma, 3
|
Isolated Colobomatous Microphthalmia 3
|
|
Microphthalmia, Isolated, With Coloboma, Type 3
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Lens Subluxation |
|
|
| Isolated Microphthalmia |
|
|
| Bilateral Retinoblastoma |
|
|
| Microphthalmia, Isolated 3 |
|
Isolated Microphthalmia 3
|
MCOP3
|
|
Microphthalmia, Isolated, 3
|
Isolated Clinical Anophthalmia
|
|
Microphthalmia, Isolated, Type 3
|
|
|
| Acrorenal Syndrome |
|
|
| 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
|
|
|
| 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
|
|
|
| Syndromic Microphthalmia |
|
Microphthalmia, Syndromic
|
|
|
| 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
|
|
|
| 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
|
|
|
| Nanophthalmos |
|
|
| Orbital Cyst |
|
|
| Congenital Aphakia |
|
Congenital Absence Of Lens
|
Aphakia, Congenital Primary
|
|
Agenesis Of Lens
|
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Posterior Polymorphous Corneal Dystrophy
|
Ppcd
|
|
Maumenee Corneal Dystrophy
|
Posterior Polymorphous Corneal Dystrophy 1
|
|
PPCD1
|
Corneal Dystrophy, Hereditary Polymorphous Posterior
|
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant
|
Schlichting Dystrophy
|
|
Ched1
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
|
|
Ched1, Formerly
|
Hereditary Polymorphus Posterior Corneal Dystrophy
|
|
Posterior Polymorphous Dystrophy
|
Hereditary Polymorphous Posterior Corneal Dystrophy
|
|
Dystrophy, Corneal, Posterior Polymorphous
|
Dystrophy, Corneal, Posterior Polymorphous, Type 1
|
|
Polymorphous Corneal Dystrophy
|
Corneal Endothelial Dystrophy 2
|
|
|
| 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
|
|
|
| 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
|
|
|
| Unilateral Retinoblastoma |
|
|
| Oculoauricular Syndrome |
|
OCACS
|
Schorderet-Munier-Franceschetti Syndrome
|
|
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear
|
Oculoauricular Syndrome, Schorderet Type
|
|
Oculo-Auricular Syndrome
|
|
|
| Leukocoria |
|
|
| 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
|
|
|
| Enhanced S-Cone Syndrome |
|
Goldmann-Favre Syndrome
|
ESCS
|
|
Favre Hyaloideoretinal Degeneration
|
Retinoschisis With Early Hemeralopia
|
|
Retinoschisis With Early Nyctalopia
|
Enhanced S Cone Syndrome
|
|
S-Cone Syndrome, Enhanced
|
|
|
| Microphthalmia, Syndromic 2 |
|
Oculofaciocardiodental Syndrome
|
Ofcd Syndrome
|
|
MCOPS2
|
Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
|
|
Syndromic Microphthalmia 2
|
Anop2
|
|
Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome
|
Maa2
|
|
Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects
|
Syndromic Microphthalmia Type 2
|
|
Oculo-Facio-Cardio-Dental Syndrome
|
Anop2, Formerly
|
|
Maa2, Formerly
|
Microphthalmia Syndromic 2
|
|
Oculo Facio Cardio Dental Syndrome
|
Microphthalmia, Syndromic, 2
|
|
Marashi-Gorlin Syndrome
|
Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects
|
|
Microphthalmia, Syndromic, Type 2
|
|
|
| Microphthalmia, Syndromic 9 |
|
Matthew-Wood Syndrome
|
Spear Syndrome
|
|
Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
|
Microphthalmia, Isolated, With Coloboma 8
|
|
MCOPS9
|
Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
|
|
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect
|
Pdac
|
|
Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
|
Pmd
|
|
Syndromic Microphthalmia 9
|
Anophthalmia-Pulmonary Hypoplasia Syndrome
|
|
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations
|
Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect
|
|
Microphthalmia Syndromic 9
|
Matthew Wood Syndrome
|
|
Pdac Syndrome
|
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
|
|
Microphthalmia, Isolated, With Coloboma, 8
|
MCOPCB8
|
|
Isolated Colobomatous Microphthalmia 8
|
Microphthalmia, Syndromic, 9
|
|
Anophthalmia With Pulmonary Hypoplasia
|
Microphthalmia Syndromic, Type 9
|
|
Anophthalmia And Pulmonary Hypoplasia
|
|
|
| Microphthalmia, Syndromic 1 |
|
MCOPS1
|
Lenz Microphthalmia Syndrome
|
|
Lenz Dysplasia
|
Mcops4
|
|
Syndromic Microphthalmia 1
|
Lenz Microphthalmia
|
|
Maa
|
Microphthalmia Or Anophthalmos With Associated Anomalies
|
|
Syndromic Microphthalmia Type 4
|
Microphthalmia, Syndromic 4
|
|
Microphthalmia, Syndromic 4, Formerly
|
Mcops4, Formerly
|
|
Anop1, Formerly
|
Maa, Formerly
|
|
Lenz Type Microphthalmia
|
Syndromic Microphthalmia 4
|
|
Microphthalmia Lenz Type
|
Microphthalmia Syndromic 1
|
|
Syndromic Microphthalmia Type 1
|
Microphthalmia Syndromic 4
|
|
Microphthalmia With Ankyloblepharon And Intellectual Disability
|
Microphthalmia, Lenz Type
|
|
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
|
Microphthalmia, Syndromic, 1
|
|
Anop1
|
Microphthalmia, Syndromic, Type 1
|
|
|
| Iris Disease |
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Sclerocornea |
|
Isolated Congenital Sclerocornea
|
|
|
| Vitreous Disease |
|
Disorder Of Vitreous Body
|
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
|
Oat Deficiency
|
Okt Deficiency
|
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
| 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
|
|
|
| Persistent Hyperplastic Primary Vitreous |
|
Congenital Retinal Detachment
|
Ncrna Disease
|
|
Non-Syndromic Congenital Retinal Non-Attachment
|
Pfvs
|
|
Phpv
|
Persistent Fetal Vasculature Syndrome
|
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Late-Onset Retinal Degeneration |
|
LORD
|
Retinal Degeneration, Late-Onset, Autosomal Dominant
|
|
Autosomal Dominant Late-Onset Retinal Degeneration
|
Pigmentary Retinopathy
|
|
Retinal Degeneration, Late-Onset
|
Retinitis Pigmentosa
|
|
|
| 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
|
|
|
| Degeneration Of Macula And Posterior Pole |
|
Degeneration Of Macula And Posterior Pole Of Retina
|
Degeneration Of Macula Or Posterior Pole
|
|
Macular Degeneration Nos
|
Degenerative Disorder Of Macula
|
|
Drusen Macular Degeneration
|
Posterior Pole Macular Degeneration Of Eye
|
|
Macular Eye Degeneration
|
Macular Degeneration Of Retina, Unspecified
|
|
Pseudohole Degeneration Of Macula Of Retina
|
|
|
| Eye Degenerative Disease |
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
