| 疾病名称 |
别名 |
|
| Pulmonary Hypertension, Primary, 2 |
|
PPH2
|
Hypertension, Pulmonary, Primary, Type 2
|
|
|
| Heritable Pulmonary Arterial Hypertension |
|
Fpah
|
Familial Pulmonary Arterial Hypertension
|
|
Hpah
|
Hereditary Pulmonary Arterial Hypertension
|
|
Familial Primary Pulmonary Hypertension
|
|
|
| Pulmonary Arterial Hypertension Associated With Congenital Heart Disease |
|
Pah Associated With Congenital Heart Disease
|
|
|
| Pulmonary Hypertension |
|
Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
|
Hypertension, Pulmonary
|
Hypertension, Pulmonary, Primary
|
|
Idiopathic Pulmonary Hypertension
|
Idiopathic Pulmonary Arterial Hypertension
|
|
Pulmonary Htn - [Hypertension]
|
|
|
| Monocular Esotropia |
|
|
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Multiple Epiphyseal Dysplasia, Beighton Type
|
EDMMD
|
|
Epiphyseal Dysplasia, Multiple, With Myopia And Deafness
|
Multiple Epiphyseal Dysplasia With Myopia And Deafness
|
|
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome
|
Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome
|
|
Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness
|
Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness
|
|
|
| Pulmonary Venoocclusive Disease |
|
Pulmonary Veno-Occlusive Disease
|
Obstructive Disease Of The Pulmonary Veins
|
|
Pvod
|
Isolated Pulmonary Venous Sclerosis
|
|
Venous Form Of Primary Pulmonary Hypertension
|
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
|
|
|
| Coenzyme Q10 Deficiency, Primary, 1 |
|
COQ10D1
|
Ubiquinone Deficiency 1
|
|
Coenzyme Q Deficiency 1
|
Coq Deficiency 1
|
|
Coq10 Deficiency, Primary, 1
|
Primary Coenzyme Q10 Deficiency 1
|
|
Primary Coq10 Deficiency 1
|
Coenzyme Q10 Deficiency, Primary, Type 1
|
|
|
| Deafness, Autosomal Dominant 69 |
|
DCUA
|
DFNA69
|
|
Deafness, Congenital, Unilateral Or Asymmetric
|
Deafness, Autosomal Dominant 69, Unilateral Or Asymmetric
|
|
Autosomal Dominant Nonsyndromic Deafness 69
|
Autosomal Dominant Deafness 69
|
|
Unilateral Or Asymmetric Congenital Deafness
|
|
|
| Syndromic X-Linked Intellectual Disability 94 |
|
Mrx94
|
Mrxs29
|
|
Syndromic X-Linked Intellectual Disability Due To Gria3 Anomalies
|
Syndromic X-Linked Mental Retardation 29
|
|
Syndromic X-Linked Mental Retardation Wu Type
|
|
|
| Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders |
|
X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome
|
EPILX
|
|
X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders
|
Epilepsy, X-Linked, With Reflex Bathing Seizures
|
|
Bathing Epilepsy, X-Linked
|
|
|
| Ciliary Dyskinesia, Primary, 3 |
|
Primary Ciliary Dyskinesia 3
|
CILD3
|
|
Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia 3 With Or Without Situs Inversus
|
|
Ics3
|
Immotile Cilia Syndrome 3
|
|
Dyskinesia, Ciliary, Primary, 3
|
|
|
| Immunodeficiency 31c |
|
IMD31C
|
Candidiasis, Familial, 7
|
|
Candf7
|
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
|
|
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
|
Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
|
|
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant
|
Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
|
|
Autosomal Dominant Immunodeficiency 31c
|
Familial Candidiasis 7
|
|
Chronic Mucocutaneous Candidiasis 7
|
Immunodeficiency 31c, Autosomal Dominant
|
|
Immunodeficiency, Type 31c, Autosomal Dominant
|
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Microcephaly And Chorioretinopathy 1 |
|
|
| Joubert Syndrome 33 |
|
JBTS33
|
Joubert Syndrome, Type 33
|
|
|
| 46,Xy Sex Reversal 9 |
|
SRXY9
|
46,Xy Sex Reversal, Zfpm2-Related
|
|
46xy Sex Reversal 9
|
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
|
Smd
|
Smed Strudwick Type
|
|
SEMDSTWK
|
Smed, Type I
|
|
Semdc
|
Smed Type 1
|
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
|
| Cowden Syndrome 6 |
|
CWS6
|
Cowden Syndrome, Type 6
|
|
|
| Developmental And Epileptic Encephalopathy 60 |
|
DEE60
|
Epileptic Encephalopathy, Early Infantile, 60
|
|
Eiee60
|
Developmental And Epileptic Encephalopathy, 60
|
|
Early Infantile Epileptic Encephalopathy 60
|
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
HSN1D
|
Hereditary Sensory Neuropathy Type 1d
|
|
Neuropathy, Hereditary Sensory, Type 1d
|
Neuropathy, Hereditary Sensory, 1d
|
|
Hereditary Sensory Neuropathy Type Id
|
Neuropathy, Sensory, Hereditary, Type Id
|
|
|
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
ECTD5
|
Ectodermal Dysplasia 5
|
|
|
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
ECTD6
|
Ectodermal Dysplasia 6
|
|
|
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
ECTD7
|
Ectodermal Dysplasia 7
|
|
Dysplasia, Ectodermal, Type 7, Hair/Nail
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
MC1DN16
|
Nuclear Type Mitochondrial Complex I Deficiency 16
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 16
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
CMTX2
|
Charcot-Marie-Tooth Disease X-Linked Recessive 2
|
|
X-Linked Charcot-Marie-Tooth Disease Type 2
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
|
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
|
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
|
HSAN2A
|
Morvan Disease
|
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
|
Hsan Iia
|
Hsn2a
|
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
|
Hsanii
|
Congenital Sensory Neuropathy
|
|
Hsan Type Ii
|
Morvan Syndrome
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
|
Hsan2b
|
Hsan2c
|
|
Hsan2d
|
Hsn Type Ii
|
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
LCCS4
|
Contracture Syndrome, Lethal, Congenital, Type 4
|
|
|
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Adk Hypermethioninemia
|
Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency
|
|
Hypermethioninemia Encephalopathy Due To Adk Deficiency
|
Mrt8
|
|
Mental Retardation, Autosomal Recessive 8, Formerly
|
Mrt8, Formerly
|
|
HMAKD
|
Mental Retardation, Autosomal Recessive 8
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemic Nephrolithiasis/Osteoporosis 1
|
NPHLOP1
|
|
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
|
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
Rendu-Osler-Weber Disease
|
Hht
|
|
Osler-Weber-Rendu Disease
|
Telangiectasia, Hereditary Hemorrhagic
|
|
Osler Hemorrhagic Telangiectasia Syndrome
|
Orw Disease
|
|
Osler Weber Rendu Syndrome
|
Osler-Rendu-Weber Disease
|
|
Osler-Weber-Rendu Syndrome
|
Rendu-Osler Disease
|
|
Telangiectasia Hereditary Hemorrhagic
|
Telangiectasia Hemorrhagic, Hereditary
|
|
Hht - [Hereditary Haemorrhagic Telangiectasia]
|
Osler Haemorrhagic Telangiectasia Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
Epileptic Encephalopathy, Early Infantile, 11
|
DEE11
|
|
Eiee11
|
Developmental And Epileptic Encephalopathy, 11
|
|
Early Infantile Epileptic Encephalopathy 11
|
Encephalopathy, Developmental And Epileptic, Type 11
|
|
|
| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| 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
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Congenital Amaurosis Of Retinal Origin
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Leber'S Congenital Amaurosis
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Leber Congenital Amaurosis 1
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Leber'S Congenital Tapetoretinal Degeneration
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Leber'S Congenital Tapetoretinal Dysplasia
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Lca1
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Leber Congenital Amaurosis Type 1
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Retinal Blindness, Congenital
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Amaurosis, Leber Congenital
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Dysgenesis Neuroepithelialis Retinae
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Hereditary Epithelial Dysplasia Of Retina
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Hereditary Retinal Aplasia
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Heredoretinopathia Congenitalis
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Leber Abiotrophy
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Leber Congenital Tapetoretinal Degeneration
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Lebers Congenital Amaurosis
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Optic Atrophy, Hereditary, Leber
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| Cone-Rod Dystrophy 2 |
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Cone-Rod Dystrophy
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CORD2
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Cone-Rod Retinal Dystrophy
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Rcrd2
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Cone-Rod Retinal Dystrophy 2
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Crd2
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Cord
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Crd
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Retinal Cone-Rod Dystrophy
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Cone-Rod Retinal Dystrophy-2
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Retinal Cone-Rod Dystrophy 2
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Tapetoretinal Degeneration
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Cone-Rod Degeneration
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Cone Rod Dystrophy
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Dystrophy, Cone-Rod
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Dystrophy, Cone-Rod, Type 2
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Retinitis Pigmentosa
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Retinitis Pigmentosa 2
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Progressive Cone-Rod Dystrophy
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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