| 疾病名称 |
别名 |
|
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
KFS1
|
Cervical Vertebral Fusion Autosomal Dominant
|
|
Kfs
|
Cervical Vertebral Fusion, Autosomal Dominant
|
|
Cervical Vertebral Fusion Congenital
|
Congenital Klippel-Feil Segment
|
|
Fused Cervical Segments Congenital
|
Isolated Klippel-Feil Syndrome
|
|
Klippel-Feil Malformation
|
Klippel-Feil Sequence
|
|
Klippel-Feil Syndrome, Type 1, Autosomal Dominant
|
Klippel-Feil Syndrome, Autosomal Dominant
|
|
|
| Leber Congenital Amaurosis 17 |
|
LCA17
|
Leber Congenital Amaurosis, Type 17
|
|
|
| Microphthalmia, Isolated 4 |
|
Isolated Microphthalmia 4
|
MCOP4
|
|
Microphthalmia, Isolated, 4
|
Isolated Clinical Anophthalmia
|
|
Microphthalmia, Isolated, Type 4
|
|
|
| Multiple Synostoses Syndrome 4 |
|
|
| Microphthalmia, Isolated, With Coloboma 6 |
|
MCOPCB6
|
Microphthalmia With Coloboma 6, Digenic
|
|
Microphthalmia, Isolated, With Coloboma, 6
|
Isolated Colobomatous Microphthalmia 6
|
|
Microphthalmia, Isolated, With Coloboma, Type 6
|
|
|
| Parkinson Disease 8, Autosomal Dominant |
|
Parkinson Disease 8
|
Autosomal Dominant Parkinson Disease 8
|
|
PARK8
|
Parkinson'S Disease 8
|
|
Autosomal Dominant Parkinson'S Disease 8
|
Parkinson Disease-8
|
|
Parkinson Disease, Type 8, Autosomal Dominant
|
|
|
| Isolated Klippel-Feil Syndrome |
|
Congenital Cervical Vertebral Fusion
|
Congenital Fused Cervical Segments
|
|
Klippel-Feil Malformation
|
Klippel-Feil Sequence
|
|
|
| Cakut |
|
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
|
Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
|
Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
| 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
|
|
|
| Klippel-Feil Syndrome |
|
Cervical Vertebral Fusion
|
Congenital Dystrophia Brevicollis
|
|
Cervical Fusion Syndrome
|
Klippel-Feil Deformity
|
|
Autosomal Dominant Klippel-Feil Syndrome
|
Congenital Synostosis Of Cervical Vertebrae
|
|
Klippel-Feil And Turner Syndrome
|
Klippel-Feil Deformity, Deafness And Facial Asymmetry
|
|
Klippel Feil Syndrome
|
Cervical Vertebral Fusion Syndrome
|
|
Dystrophia Brevicollis Congenita
|
Fusion Of Cervical Vertebrae
|
|
Kfs
|
Klippel-Feil Sequence
|
|
Vertebral Cervical Fusion Syndrome
|
Klippel-Feil Syndrome, Autosomal Dominant
|
|
Klippel-Feil Malformation
|
Isolated Klippel-Feil Syndrome
|
|
|
| Klippel-Feil Syndrome 1 |
|
|
| Multiple Synostoses Syndrome |
|
Symphalangism-Brachydactyly Syndrome
|
Deafness-Hermann Type Symphalangism Syndrome
|
|
Facio-Audio-Symphalangism
|
Hearing Loss-Hermann Type Symphalangism Syndrome
|
|
Wl Syndrome
|
Multiple Synostosis Syndrome
|
|
|
| Segmentation Syndrome 1 |
|
|
| 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
|
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Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
DFNB118
|
Deafness, Autosomal Recessive, 118, With Cochlear Aplasia
|
|
|
| Colobomatous Microphthalmia |
|
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
|
| Brachydactyly, Type A1, C |
|
Brachydactyly Type A1c
|
BDA1C
|
|
Brachydactyly A1, C
|
Brachydactyly A1c
|
|
Brachydactyly Type A1 C
|
|
|
| Isolated Microphthalmia |
|
|
| Synostosis |
|
|
| Synostoses, Tarsal, Carpal, And Digital |
|
Calcaneonavicular Coalition
|
Multiple Synostosis Syndrome
|
|
Synostoses, Tarsal, Carpal And Digital
|
|
|
| Proximal Symphalangism |
|
Cushing'S Symphalangism
|
Symphalangism, Proximal
|
|
Hereditary Absence Of Proximal Interphalangeal Joints
|
Strasburger-Hawkins-Eldridge Syndrome
|
|
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome
|
Symphalangism, Proximal, 1a
|
|
Symphalangism, Proximal, 1b
|
Vessel'S Syndrome
|
|
Symphalangism, Cushing Type
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
SCDO4
|
Spondylocostal Dysostosis 4
|
|
Autosomal Recessive Spondylocostal Dysostosis 4
|
Doid:0112364
|
|
Dysostosis, Spondylocostal, Autosomal Recessive, Type 4
|
|
|
| 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
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| 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
|
|
|
| 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
|
|
|
| Brachydactyly, Type A1 |
|
Brachydactyly Type A1
|
BDA1
|
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
|
Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
|
Brachydactyly A1
|
Brachydactyly
|
|
|
| Syringomyelia |
|
|
| Spina Bifida Occulta |
|
|
| Craniofacial Microsomia |
|
Goldenhar Syndrome
|
Hemifacial Microsomia
|
|
Oculoauriculovertebral Spectrum
|
Oavs
|
|
Oculo-Auriculo-Vertebral Spectrum
|
CFM
|
|
Oav Dysplasia
|
Facioauriculovertebral Sequence
|
|
Fav Sequence
|
First And Second Branchial Arch Syndrome
|
|
Otomandibular Dysostosis
|
Hfm
|
|
Oculoauriculovertebral Dysplasia
|
Facio-Auriculo-Vertebral Spectrum
|
|
Facioauriculovertebral Dysplasia
|
Oculo-Auriculo-Vertebral Dysplasia
|
|
First Arch Syndrome
|
Oav Dysplasia
|
|
Goldenhar Disease
|
Expanded Spectrum Hemifacial Microsomia
|
|
Expanded Spectrum Of Hemifacial Microsomia
|
Oculoauriculovertebral Syndrome
|
|
Oavd
|
Asymmetric Hypoplasia Of Facial Structures
|
|
Auriculobranchiogenic Dysplasia
|
Fav
|
|
First And Second Pharyngeal Arch Syndromes
|
Goldenhar-Gorlin Syndrome
|
|
Lateral Facial Dysplasia
|
Oav Complex
|
|
Oral-Mandibular-Auricular Syndrome
|
Unilateral Intrauterine Facial Necrosis
|
|
Unilateral Mandibulofacial Dysostosis
|
Oav Spectrum
|
|
Oculoauricular Vertebral Dysplasia
|
Microsomia, Hemifacial
|
|
Goldenhar Syndrome With Ipsilateral Radial Defect
|
|
|
| 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
|
|
|
| Spondylocostal Dysostosis |
|
Jarcho-Levin Syndrome
|
Costovertebral Dysplasia
|
|
Spondylothoracic Dysostosis
|
Spondylothoracic Dysplasia
|
|
Scdo
|
Dysostosis, Spondylocostal
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Otosclerosis |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Nanophthalmos |
|
|
| Orofacial Cleft |
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
