| 疾病名称 |
别名 |
|
| Muscular Dystrophy, Duchenne Type |
|
Duchenne Muscular Dystrophy
|
DMD
|
|
Muscular Dystrophy, Duchenne
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
|
|
Severe Dystrophinopathy, Duchenne Type
|
Muscular Dystrophy Duchenne
|
|
Dystrophy, Muscular, Duchenne Type
|
Benign Duchenne Muscular Dystrophy
|
|
Duchenne Motor Neuron Disease
|
Duchenne Type Dystrophy
|
|
Duchenne-Griesinger Disease
|
|
|
| Muscular Dystrophy, Becker Type |
|
Becker Muscular Dystrophy
|
BMD
|
|
Benign Pseudohypertrophic Muscular Dystrophy
|
Benign Congenital Myopathy
|
|
Becker Dystrophinopathy
|
Becker'S Muscular Dystrophy
|
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
|
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
|
|
Muscular Dystrophy Becker
|
Dystrophy, Muscular, Becker Type
|
|
Dystrophinopathy
|
Becker Dystrophy
|
|
Becker Type Dystrophy
|
Bmd - [Becker Muscular Dystrophy]
|
|
|
| Cardiomyopathy, Dilated, 3b |
|
Dilated Cardiomyopathy 3b
|
CMD3B
|
|
X-Linked Dilated Cardiomyopathy
|
Xlcm
|
|
Dmd-Associated Dilated Cardiomyopathy
|
Cardiomyopathy, Dilated, X-Linked
|
|
Dmd-Related Dilated Cardiomyopathy
|
Xldc
|
|
Cardiomyopathy, Dilated, X-Linked 3b
|
Cardiomyopathy, Dilated, Type 3b
|
|
|
| Qualitative Or Quantitative Defects Of Dystrophin |
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
|
| Interatrial Communication |
|
Asd
|
Atrial Septal Defect
|
|
Interauricular Communication
|
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Creatine Phosphokinase, Elevated Serum |
|
Hyperckemia, Idiopathic
|
Cpk, Elevated Serum
|
|
Hyperckmia
|
HYPCK
|
|
|
| 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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
Familial Or Idiopathic Dilated Cardiomyopathy
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| Exophthalmos |
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Glycerol Kinase Deficiency |
|
Hyperglycerolemia
|
GKD
|
|
Gk Deficiency
|
Gk1 Deficiency
|
|
Deficiency Of Glycerol Kinase
|
Isolated Glycerol Kinase Deficiency
|
|
Glycerol Kinase Deficiency, Adult Form
|
Glycerol Kinase Deficiency, Juvenile Form
|
|
Deficiency, Glycerol Kinase
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Myocarditis |
|
Myocardial Inflammation
|
Inflammatory Cardiomyopathy
|
|
|
| Pectus Excavatum |
|
Funnel Chest
|
Congenital Pectus Excavatum
|
|
|
| Dystrophinopathies |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
|
| Muscle Tissue Disease |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
|
Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
|
Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
|
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
|
Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
|
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
|
Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
|
Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
|
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
|
Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Aland Island Eye Disease |
|
AIED
|
Forsius-Eriksson Type Ocular Albinism
|
|
Forsius-Eriksson Syndrome
|
Autoimmune Inner Ear Disease
|
|
Forsius Eriksson Type Ocular Albinism
|
Aland Islands Eye Disease
|
|
Aaland Island Eye Disease
|
Ocular Albinism, Type Ii
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
|
Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
|
Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Adrenal Hypoplasia, Congenital |
|
X-Linked Adrenal Hypoplasia Congenita
|
Congenital Adrenal Hypoplasia
|
|
AHC
|
Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism
|
|
Adrenal Hypoplasia Congenita
|
X-Linked Ahc
|
|
Ahch
|
Ahx
|
|
Ahc With Hhg
|
Cytomegalic Adrenocortical Hypoplasia
|
|
Ahc With Isolated Gonadotropin Deficiency
|
X-Linked Congenital Adrenal Hypoplasia
|
|
Congenital Adrenal Hypoplasia, X-Linked
|
Addison Disease, X-Linked
|
|
Primary Adrenal Hypoplasia
|
Adrenal Hypoplasia Congenital, X-Linked
|
|
X-Linked Addison Disease
|
X-Linked Adrenal Hypoplasia Congenital
|
|
Congenital Hypoplasia Of Adrenal Gland
|
Congenital Adrenal Gland Hypoplasia
|
|
Congenital Small Adrenal Gland
|
Adrenal Hypoplasia
|
|
Cah - [Congenital Adrenal Hypoplasia]
|
|
|
| Myofibrillar Myopathy |
|
Desmin Related Myopathy
|
Myotilinopathy
|
|
Myopathy, Myofibrillar
|
Alpha Beta Crystallinopathy
|
|
Desmin Storage Myopathy
|
Desminopathy
|
|
Filaminopathy
|
Protein Surplus Myopathy
|
|
Zaspopathy
|
Myofibrillar Myopathies
|
|
Myopathy, Myofibrillar, Desmin-Related
|
Myopathy, Desmin Storage
|
|
Mfm - [Myofibrillar Myopathy]
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
|
Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
|
Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
|
Familial Idiopathic Inflammatory Myopathy
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
KFSDX
|
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi
|
|
X-Linked Keratosis Follicularis Spinulosa Decalvans
|
Keratosis Follicularis Spinulosa Decalvans X-Linked
|
|
Siemens-1 Syndrome
|
|
|
| Muscular Disease |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
|
Emery-Dreifuss Syndrome
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
| Glycogen Storage Disease Ii |
|
Pompe Disease
|
Glycogen Storage Disease Type Ii
|
|
Acid Maltase Deficiency
|
Gsd Ii
|
|
Gaa Deficiency
|
Alpha-1,4-Glucosidase Deficiency
|
|
Glycogenosis Type Ii
|
GSD2
|
|
Acid Alpha-Glucosidase Deficiency
|
Amd
|
|
Glycogen Storage Disease, Type Ii
|
Pompe'S Disease
|
|
Glycogen Storage Disease Type 2
|
Cardiomegalia Glycogenica Diffusa
|
|
Acid Maltase Deficiency Disease
|
Deficiency Of Alpha-Glucosidase
|
|
Glycogenosis, Generalized, Cardiac Form
|
Deficiency Of Glucoamylase
|
|
Deficiency Of Maltase
|
Generalized Glycogenosis
|
|
Glycogenosis, Type 2
|
Lysosomal Alpha-1,4-Glucosidase Deficiency
|
|
Glucosidase Acid-1,4-Alpha Deficiency
|
Aglucosidase Alfa
|
|
Deficiency Of Lysosomal Alpha-Glucosidase
|
Glycogen Storage Disease Due To Acid Maltase Deficiency
|
|
Alpha-1,4-Glucosidase Acid Deficiency
|
Gsd Due To Acid Maltase Deficiency
|
|
Gsd Type 2
|
Gsd Type Ii
|
|
Glycogenosis Due To Acid Maltase Deficiency
|
Glycogenosis Type 2
|
|
Glycogen Storage Disease 2
|
Cardiomegalia Glycogenica
|
|
Glycogenosis Generalized Cardiac Form
|
Glycogenosis Ii
|
|
Gsd-Ii
|
Storage Disease, Glycogen, Type Ii
|
|
Generalized Glycogen Storage Disease Of Infants
|
Cardiac Form Of Generalized Glycogenosis
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Facioscapulohumeral Muscular Dystrophy
|
Fshd
|
|
Landouzy-Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Facioscapulohumeral
|
|
FSHD1
|
Fshd1a
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1a
|
Facioscapulohumeral Muscular Dystrophy Type 1a
|
|
Fsh Muscular Dystrophy
|
Facioscapulohumeral Muscular Dystrophy 1a
|
|
Facioscapulohumeral Atrophy
|
Facioscapulohumeral Myopathy
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1
|
Facioscapulohumeral Muscular Dystrophy Type 1
|
|
Landouzy Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Landouzy-Dejerine
|
|
Fshmd1a
|
Facio-Scapulo-Humeral Dystrophy
|
|
Facioscapulohumeral Type Progressive Muscular Dystrophy
|
Facioscapuloperoneal Muscular Dystrophy
|
|
Facioscapulohumeral Dystrophy
|
Fsh Dystrophy
|
|
Landouzy-Dejerine Dystrophy
|
Landouzy-Dejerine Myopathy
|
|
Fmd
|
Facioscapulohumeral Muscular Dystrophy-1a
|
|
Muscular Dystrophy Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral
|
|
Dystrophy, Muscular, Facioscapulohumeral, Type 1
|
Landouzy-Dejerine Disease
|
|
Landouzy-Déjerine Atrophy
|
Facioscapulohumeral Muscle Dystrophy
|
|
Fmd - [Facioscapulohumeral Muscular Dystrophy]
|
Fsh - [Facioscapulohumeral Muscular Dystrophy]
|
|
Fshd - [Facioscapulohumeral Muscular Dystrophy]
|
Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
|
|
Landouzy-Déjérine Muscular Dystrophy
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1
|
Deficiency Of Sarcoglycan Gamma
|
|
Dmda1
|
Gamma-Sarcoglycanopathy
|
|
Lgmd2c
|
Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
|
|
Maghrebian Myopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2c
|
|
Scarmd
|
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Lgmd2f
|
Muscular Dystrophy, Limb-Girdle, Type 2f
|
|
Limb-Girdle Muscular Dystrophy Type 2f
|
LGMDR6
|
|
Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency
|
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
|
Delta-Sarcoglycan-Related Lgmd R6
|
|
Delta-Sarcoglycanopathy
|
Lgmd Due To Delta-Sarcoglycan Deficiency
|
|
Lgmd Type 2f
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2f
|
Limb-Girdle Muscular Dystrophy, Type 2f
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2f
|
|
|
| Chromosome Xp21 Deletion Syndrome |
|
Complex Glycerol Kinase Deficiency
|
Xp21 Microdeletion Syndrome
|
|
Monosomy Xp21
|
Xp21 Deletion Syndrome
|
|
Complex Gkd
|
Del
|
|
Xp21 Contiguous Gene Deletion Syndrome
|
Glycerol Kinase Deficiency - Contiguous Gene Syndrome
|
|
|
| Myoglobinuria, Recurrent |
|
Myoglobinuria Recurrent
|
Recurrent Myoglobinuria Mitochondrial
|
|
RM-MT
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
Lgmd2g
|
|
LGMDR7
|
Limb-Girdle Muscular Dystrophy, Type 2g
|
|
Telethonin-Related Limb-Girdle Muscular Dystrophy R7
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
|
|
Lgmd Due To Telethonin Deficiency
|
Lgmd Type 2g
|
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2g
|
|
Telethonin-Related Lgmd R7
|
Limb-Girdle Muscular Dystrophy 2g
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2g
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Myotonia |
|
|
| Respiratory Failure |
|
Acute Respiratory Failure
|
Chronic Respiratory Failure
|
|
Respiratory Insufficiency
|
Acute-On-Chronic Respiratory Failure
|
|
Respiratory Disease
|
Acute And Chronic Respiratory Failure
|
|
Respiratory Insufficiency/Failure
|
Chronic Respiratory Disease
|
|
Pulmonary Valve Insufficiency
|
Chronic Disease Of Respiratory System
|
|
Respiration Disorders
|
Respiratory Tract Diseases
|
|
Lung Failure Nos
|
Pulmonary Failure
|
|
Arf - [Acute Respiratory Failure]
|
Acute Respiratory Insufficiency
|
|
Acute Pulmonary Insufficiency
|
Acute Respiration Failure
|
|
Chronic Respiration Failure
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| Cylindrical Spirals Myopathy |
|
Myotonic Myopathy With Cylindrical Spirals
|
|
|
| Atrial Standstill 1 |
|
ATRST1
|
Atrial Cardiomyopathy With Heart Block
|
|
Cardiomyopathy, Familial, With Conduction Disturbance
|
Atrial Standstill, Digenic
|
|
Familial Cardiomyopathy With Conduction Disturbance
|
Standstill, Atrial, Type 1
|
|
Heart Block
|
Cardiomyopathies
|
|
Idiopathic Cardiomyopathy
|
Idiopathic Cardiopathy
|
|
Primary Myocardial Disease
|
Primary Cardiomyopathy
|
|
Myocardiopathy
|
Myocardosis
|
|
Primary Idiopathic Myocardial Disease
|
|
|
| Pyloric Stenosis |
|
|
| Muscle Eye Brain Disease |
|
Muscle-Eye-Brain Disease
|
Muscle-Eye-Brain Syndrome
|
|
Meb
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
|
Meb Syndrome
|
Santavuori Congenital Muscular Dystrophy
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
Delta-Sarcoglycanopathy
|
Lgmd2f
|
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2f
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
Lgmd2b
|
Lgmd3
|
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 3
|
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
|
| Axonal Neuropathy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
Leyden-Moebius Muscular Dystrophy
|
Lgmd2a
|
|
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2a
|
|
Pelvofemoral Muscular Dystrophy
|
Primary Calpainopathy
|
|
|
| Scoliosis |
|
|
| Myopathy, Myofibrillar, 2 |
|
Alpha-B Crystallinopathy
|
Myofibrillar Myopathy 2
|
|
MFM2
|
Myopathy, Myofibrillar, Alpha-B Crystallin-Related
|
|
Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene
|
Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy
|
|
Alpha-B Crystallin-Related Late-Onset Myopathy
|
Alpha-B Crystallin-Related Late-Onset Distal Myopathy
|
|
Late-Onset Distal Crystallinopathy
|
Alpha-B Crystallinopathy With Cataract
|
|
Desmin-Related Myopathy With Cataract
|
Mfm Alpha-B Crystallin-Related
|
|
Myofibrillar Myopathy Alpha-B Crystallin-Related
|
Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy
|
|
Myopathy Cardioskeletal Desmin-Related With Cataract
|
Myopathy Desmin-Related Associated With Mutation In The Cryab Gene
|
|
Myopathy, Cardioskeletal, Desmin-Related, With Cataract
|
Myopathy, Myofibrillar, Type 2
|
|
|
| Gas Gangrene |
|
Myonecrosis
|
Gas Bacillus Infection
|
|
Gas Gangrene Due To Clostridia
|
Clostridial Myonecrosis
|
|
Clostridial Cellulitis
|
|
|
| Spinal Muscular Atrophy |
|
Sma
|
5q Sma
|
|
Proximal Sma
|
Sma-Associated Sma
|
|
Spinal Amyotrophies
|
Spinal Amyotrophy
|
|
Spinal Muscle Degeneration
|
Spinal Muscle Wasting
|
|
Muscular Atrophy Spinal
|
Atrophy, Muscular, Spinal
|
|
Hereditary Motor Neuronopathy
|
Progressive Muscular Atrophy
|
|
Sma - [Spinal Muscular Atrophy]
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Immunodeficiency 26 |
|
Severe Combined Immunodeficiency Due To Dna-Pkcs Deficiency
|
Scid Due To Dna-Pkcs Deficiency
|
|
Imd26
|
Immunodeficiency 26, With Or Without Neurologic Abnormalities
|
|
|
| Rhabdomyosarcoma |
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
|
Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Myopathy, Myofibrillar, 1 |
|
Desmin-Related Myofibrillar Myopathy
|
Desmin-Related Myopathy
|
|
MFM1
|
Myopathy, Myofibrillar, Desmin-Related
|
|
Drm
|
Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
|
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
Myofibrillar Myopathy 1
|
|
Desminopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2r
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
|
Desminopathy, Primary
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
|
Arvd7, Formerly
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
|
Arvc7, Formerly
|
|
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
|
Ibm1, Formerly
|
|
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly
|
Cmd1f And Lgmd1d, Formerly
|
|
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy
|
Cdcd3, Formerly
|
|
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
|
Lgmd2r, Formerly
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7
|
|
Arvc7
|
Arvd7
|
|
Autosomal Dominant Inclusion Body Myopathy 1
|
Cdcd3
|
|
Cmd1f And Lgmd1d
|
Desminopathy Primary
|
|
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d
|
Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
|
|
Familial Arrhythmogenic Right Ventricular Dysplasia 7
|
Lgmd2r
|
|
Limb-Girdle Muscular Dystrophy 2r
|
Mfm Desmin-Related
|
|
Myopathy Myofibrillar Desmin-Related
|
Dystrophy, Muscular, Limb-Girdle, Type 2r
|
|
|
| Tibial Muscular Dystrophy |
|
Tmd
|
Udd Myopathy
|
|
Distal Titinopathy
|
Finnish Tibial Muscular Dystrophy
|
|
Tardive Tibial Muscular Dystrophy
|
Udd Type Distal Myopathy
|
|
Udd Distal Myopathy
|
Udd-Markesbery Muscular Dystrophy
|
|
Distal Myopathy, Udd Type
|
Distal Myopathies
|
|
Tibial Muscular Dystrophy, Tardive
|
|
|
| Myopathy, Myofibrillar, 3 |
|
Myotilinopathy
|
Myofibrillar Myopathy 3
|
|
MFM3
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
|
|
Lgmd1a
|
Muscular Dystrophy, Limb-Girdle, Type 1a
|
|
Myopathy, Myofibrillar, Myotilin-Related
|
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly
|
|
Lgmd1, Formerly
|
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly
|
|
Lgmd1a, Formerly
|
Qualitative Or Quantitative Defects Of Myotilin
|
|
Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency
|
Distal Myotilinopathy
|
|
Lgmd1
|
Limb-Girdle Muscular Dystrophy 1a
|
|
Mfm Myotilin-Related
|
Muscular Dystrophy, Limb-Girdle, Type 1
|
|
Myopathy Myofibrillar Myotylin-Related
|
Myopathy, Myofibrillar, Type 3
|
|
|
| Tyrosinemia, Type I |
|
Tyrosinemia Type I
|
Hepatorenal Tyrosinemia
|
|
Fumarylacetoacetase Deficiency
|
Fah Deficiency
|
|
TYRSN1
|
Fumarylacetoacetate Hydrolase Deficiency
|
|
Tyrosinemia Type 1
|
Tyrosinemia 1
|
|
Fumarylacetoacetase
|
|
|
| Myopathy, Centronuclear, X-Linked |
|
X-Linked Myotubular Myopathy
|
Xlmtm
|
|
X-Linked Centronuclear Myopathy
|
Xlcnm
|
|
CNMX
|
Mtm1
|
|
Myotubular Myopathy, X-Linked
|
Mtmx
|
|
Myotubular Myopathy 1
|
Centronuclear Myopathy X-Linked
|
|
Myotubular Myopathy
|
Mtm
|
|
Cnm
|
Xmtm
|
|
Myotubular Myopathy Type 1
|
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| Childhood Spinal Muscular Atrophy |
|
Spinal Muscular Atrophies Of Childhood
|
Survival Motor Neuron Spinal Muscular Atrophy
|
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Retinitis Pigmentosa 84 |
|
RP84
|
Retinitis Pigmentosa, Type 84
|
|
|
| Glycogen Storage Disease |
|
Glycogenosis
|
Glycogenoses
|
|
Gsd
|
Storage Disease, Glycogen
|
|
Gsd - [Glycogen Storage Disease]
|
Glycogen Thesaurismosis
|
|
Diffuse Glycogenosis
|
Generalised Glycogen Storage Disease
|
|
Generalised Glycogenosis
|
Generalised Glycogen Storage Disease Of Infants
|
|
Glycogen Synthase Deficiency
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Rippling Muscle Disease 2 |
|
Rippling Muscle Disease
|
Rmd
|
|
Lgmd1c
|
RMD2
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
|
Muscular Dystrophy, Limb-Girdle, Type 1c
|
|
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
|
Lgmd1c, Formerly
|
|
Limb-Girdle Muscular Dystrophy Type 1c
|
Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type Ic
|
Rippling Muscle Syndrome
|
|
Limb-Girdle Muscular Dystrophy 1c
|
Dystrophy, Muscular, Limb-Girdle, Type 1c
|
|
Disease, Muscle, Rippling, Type 2
|
Rippling Muscle Disease 1
|
|
|
| Spinal Muscular Atrophy, Type I |
|
Werdnig-Hoffmann Disease
|
SMA1
|
|
Spinal Muscular Atrophy 1
|
Sma I
|
|
Sma, Infantile Acute Form
|
Muscular Atrophy, Infantile
|
|
Spinal Muscular Atrophy-1
|
Hmn Proximal Type I
|
|
Infantile Muscular Atrophy
|
Proximal Spinal Muscular Atrophy Type 1
|
|
Sma Type 1
|
Sma Type I
|
|
Sma-I
|
Hereditary Motor Neuropathy Proximal Type I
|
|
Progressive Muscular Atrophy Of Infancy
|
Proximal Spinal Muscular Atrophy, Type 1
|
|
Werdnig Hoffmann Disease
|
Infantile Spinal Muscular Atrophy
|
|
Infantile-Onset Spinal Muscular Atrophy
|
Proximal Hereditary Motor Neuropathy Type I
|
|
Sma Infantile Acute Form
|
Spinal Muscular Atrophy Type I
|
|
Werdnig-Hoffman Disease
|
Atrophy, Muscular, Spinal, Type 1
|
|
|
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar Myopathy 5
|
MFM5
|
|
Myopathy, Myofibrillar, Filamin C-Related
|
Filaminopathy, Autosomal Dominant
|
|
Filaminopathy
|
Muscle Filaminopathy
|
|
Autosomal Dominant Filaminopathy
|
Mfm Filamin C-Related
|
|
Myopathy Myofibrillar Filamin C-Related
|
Myopathy, Myofibrillar, Type 5
|
|
|
| Intrinsic Cardiomyopathy |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Bone Structure Disease |
|
|
| Spinal Muscular Atrophy, Type Iii |
|
SMA3
|
Juvenile Spinal Muscular Atrophy
|
|
Kugelberg-Welander Disease
|
Sma Iii
|
|
Kugelberg-Welander Syndrome
|
Kws
|
|
Muscular Atrophy, Juvenile
|
Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
|
|
Spinal Muscular Atrophy-3
|
Spinal Muscular Atrophy Type 3
|
|
Spinal Muscular Atrophy, Type Iii, Modifier Of
|
Type Iii Spinal Muscular Atrophy
|
|
Sma 3
|
Proximal Spinal Muscular Atrophy Type 3
|
|
Sma Type 3
|
Sma Type Iii
|
|
Sma-Iii
|
Spinal Muscular Atrophy 3
|
|
Spinal Muscular Atrophy Mild Childhood And Adolescent Form
|
Spinal Muscular Atrophy Type Iii
|
|
Wohlfart-Kugelberg-Welander Disease
|
Atrophy, Muscular, Spinal, Type Iii
|
|
|
| Myopathy With Extrapyramidal Signs |
|
Proximal Myopathy With Extrapyramidal Signs
|
MPXPS
|
|
Myopathy, With Extrapyramidal Signs
|
|
|
| Oculopharyngeal Muscular Dystrophy |
|
OPMD
|
Muscular Dystrophy, Oculopharyngeal
|
|
Dystrophy, Oculopharyngeal Muscular
|
Oculopharyngeal Dystrophy
|
|
Progressive Muscular Dystrophy, Oculopharyngeal Type
|
Muscular Dystrophy Oculopharyngeal
|
|
Dystrophy, Muscular, Oculopharyngeal
|
|
|
| Cardiomyopathy, Dilated, 1g |
|
Dilated Cardiomyopathy 1g
|
CMD1G
|
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Chronic Granulomatous Disease |
|
Cgd
|
Granulomatous Disease, Chronic
|
|
Autosomal Recessive Chronic Granulomatous Disease
|
X-Linked Chronic Granulomatous Disease
|
|
Bridges-Good Syndrome
|
Congenital Dysphagocytosis
|
|
Quie Syndrome
|
Chronic Septic Granulomatosis
|
|
Chronic Granulomatous Disorder
|
Granulomatous Disease Chronic
|
|
Granulomatous Disease, Chronic, X-Linked
|
|
|
| Restrictive Cardiomyopathy |
|
Familial Restrictive Cardiomyopathy
|
Cardiomyopathy, Restrictive
|
|
Cardiomyopathy, Constrictive
|
Primary Restrictive Cardiomyopathy
|
|
Rcm
|
Cardiomyopathy Restrictive
|
|
|
| Left Ventricular Noncompaction |
|
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
|
Lvnc
|
Spongy Myocardium
|
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
|
Fetal Myocardium
|
Honeycomb Myocardium
|
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| 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]
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| Brugada Syndrome |
|
Sudden Unexpected Nocturnal Death Syndrome
|
Sudden Unexplained Nocturnal Death Syndrome
|
|
Bangungut
|
Brugada Type Idiopathic Ventricular Fibrillation
|
|
Pokkuri Death Syndrome
|
Sunds
|
|
Idiopathic Ventricular Fibrillation, Brugada Type
|
Sudden Unexplained Death
|
|
Dream Disease
|
Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
|
|
Sudden Unexplained Death Syndrome
|
Suds
|
|
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
