| 疾病名称 |
别名 |
|
| Epidermolysis Bullosa Simplex 5a, Ogna Type |
|
Epidermolysis Bullosa Simplex, Ogna Type
|
EBS5A
|
|
Ebsog
|
Epidermolysis Bullosa Simplex Ogna Type
|
|
Ebs-Og
|
Ebs-O
|
|
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement
|
Plec-Related Intermediate Ebs Without Extracutaneous Involvement
|
|
Ebs1
|
Ebso
|
|
Epidermolysis Bullosa Simplex 1
|
O-Ebs
|
|
Simplex Epidermolysis Bullosa_ogna Type
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular Dystrophy, Limb-Girdle, Type 2q
|
Lgmd2q
|
|
LGMDR17
|
Plectin-Related Limb-Girdle Muscular Dystrophy R17
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
|
Lgmd Type 2q
|
|
Limb-Girdle Muscular Dystrophy Type 2q
|
Plectin-Related Lgmd R17
|
|
Limb-Girdle Muscular Dystrophy 2q
|
Limb-Girdle Muscular Dystrophy, Type 2q
|
|
|
| Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy |
|
Epidermolysis Bullosa Simplex With Muscular Dystrophy
|
Md-Ebs
|
|
Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy
|
EBS5B
|
|
Ebsmd
|
Mdebs
|
|
Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex
|
Ebs-Md
|
|
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy
|
Epidermolysa Bullosa Simplex With Muscular Dystrophy
|
|
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy
|
Ebs With Muscular Dystrophy
|
|
Muscular Dystrophy With Epidermolysis Bullosa Simplex
|
Epidermolysa Bullosa Simplex, With Muscular Dystrophy
|
|
|
| Epidermolysis Bullosa Simplex 5c, With Pyloric Atresia |
|
Epidermolysis Bullosa Simplex With Pyloric Atresia
|
EBS5C
|
|
Ebspa
|
Ebs With Pyloric Atresia
|
|
Ebs-Pa
|
Epidermolysis Bullosa Simplex, With Pyloric Atresia
|
|
|
| Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive |
|
Epidermolysis Bullosa Simplex With Nail Dystrophy
|
EBS5D
|
|
Ebsnd
|
Epidermolysis Bullosa Simplex 5d, With Nail Dystrophy
|
|
Epidermolysis Bullosa Simplex, With Nail Dystrophy
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency
|
Lgmd2q
|
|
Muscular Dystrophy, Limb-Girdle, Type 2q
|
|
|
| Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia |
|
Junctional Epidermolysis Bullosa With Pyloric Atresia
|
Carmi Syndrome
|
|
Epidermolysis Bullosa, Junctional, With Pyloric Atresia
|
Jeb-Pa
|
|
JEB5B
|
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
|
|
Aplasia Cutis Congenita With Gastrointestinal Atresia
|
Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
|
|
Eb-Pa-Acc
|
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome
|
|
Jeb With Pyloric Atresia
|
Epidermolysis Bullosa Letalis, With Pyloric Atresia
|
|
Pa-Jeb
|
Epidermolysis Bullosa With Pyloric Atresia
|
|
|
| Epidermolysis Bullosa Simplex |
|
Ebs
|
Epidermolysis Bullosa Intraepidermic
|
|
Epidermolytic Epidermolysis Bullosa
|
|
|
| Epidermolysis Bullosa Simplex 1a, Generalized Severe |
|
Epidermolysis Bullosa Simplex, Dowling-Meara Type
|
Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type
|
|
EBS1A
|
Ebsdm
|
|
Epidermolysis Bullosa Simplex Dowling-Meara Type
|
Epidermolysis Bullosa Simplex, Herpetiformis
|
|
Ebs-Dm
|
Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type
|
|
Ebs-Gen Sev
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara Type
|
|
Generalized Severe Epidermolysis Bullosa Simplex
|
Dowling-Meara Type Epidermolysis Bullosa Simplex
|
|
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
|
Autosomal Dominant Generalized Ebs, Severe Form
|
|
Epidermolysis Bullosa Simplex Herpetiformis
|
Dm-Ebs
|
|
Epidermolysis Bullosa Simplex, Generalized Severe
|
Epidermolysis Bullosa Herpetiformis, Dowling-Meara
|
|
Epidermolysis Bullosa Herpetiformis Dowling-Meara
|
|
|
| Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation |
|
Epidermolysis Bullosa Simplex With Mottled Pigmentation
|
Ebsmp
|
|
Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering
|
Ebs-Mp
|
|
EBS2F
|
Ebs With Mottled Pigmentation
|
|
Epidermolysis Bullosa Simplex-Mp
|
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering
|
|
Epidermolysis Bullosa Simplex, With Mottled Pigmentation
|
|
|
| Epidermolysis Bullosa With Pyloric Atresia |
|
Eb-Pa
|
Carmi Syndrome
|
|
Junctional Epidermolysis Bullosa With Pyloric Atresia
|
Pa-Jeb
|
|
|
| Epidermolysis Bullosa Simplex Localized Type |
|
Epidermolysis Bullosa Simplex, Weber-Cockayne Type
|
Weber-Cockayne Syndrome
|
|
Ebs-Loc
|
Epidermolysis Bullosa Simplex Of Palms And Soles
|
|
Epidermolysis Bullosa Simplex Weber-Cockayne Type
|
Epidermolysis Bullosa Simplex, Localized
|
|
Epidermolysis Bullosa Of Hands And Feet
|
Weber-Cockayne Type Epidermolysis Bullosa Simplex
|
|
Localized Epidermolysis Bullosa Simplex
|
Localized Ebs
|
|
|
| Aplasia Cutis Congenita |
|
Aplasia Cutis Congenita Of Limbs Recessive
|
Congenital Absence Of Skin On The Upper Or Lower Limbs
|
|
Recessive Aplasia Cutis Congenita Of The Limbs
|
Aplasia Cutis Congenita Nonsyndromic
|
|
Congenital Defect Of Skull And Scalp
|
Scalp Defect Congenital
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Epidermolysis Bullosa |
|
|
| Pyloric Atresia |
|
|
| 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
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Alexander Disease |
|
Alexander'S Disease
|
ALXDRD
|
|
Alexanders Leukodystrophy
|
Axd
|
|
Demyelinogenic Leukodystrophy
|
Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia
|
|
Alx
|
Dysmyelinogenic Leukodystrophy
|
|
Fibrinoid Degeneration Of Astrocytes
|
Leukodystrophy With Rosenthal Fibers
|
|
Alexander Disease Type Ii
|
Axd Type Ii
|
|
Alexander Disease Type I
|
Axd Type I
|
|
Alexanders Disease
|
Alexander'S Leukodystrophy
|
|
|
| Pemphigoid |
|
|
| Bullous Pemphigoid |
|
Benign Pemphigus
|
Senile Dermatitis Herpetiformis
|
|
Old Age Pemphigus
|
Parapemphigus
|
|
Pemphigoid
|
Pemphigoid Bullous
|
|
Pemphigoid, Bullous
|
|
|
| Progressive Muscular Dystrophy |
|
|
| Epithelial Basement Membrane Dystrophy |
|
Ebmd
|
Corneal Dystrophy, Epithelial Basement Membrane
|
|
Cogan Corneal Dystrophy
|
Microcystic Corneal Dystrophy
|
|
Anterior Basement Membrane Dystrophy
|
Cogan Microcystic Epithelial Dystrophy
|
|
Map-Dot-Fingerprint Dystrophy
|
Microscopic Cystic Corneal Dystrophy
|
|
|
| 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
|
|
|
| Bullous Skin Disease |
|
Skin Diseases Bullous
|
Skin Diseases, Bullous
|
|
|
| Junctional Epidermolysis Bullosa Non-Herlitz Type |
|
Junctional Epidermolysis Bullosa, Non-Herlitz Type
|
Gabeb
|
|
Generalized Atrophic Benign Epidermolysis Bullosa
|
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
|
|
Jeb-Nh Gen
|
Jen-Nh
|
|
Junctional Epidermolysis Bullosa Generalisata Mitis
|
Junctional Epidermolysis Bullosa, Disentis Type
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
|
|
|
| Paraneoplastic Pemphigus |
|
|
| Epidermolytic Hyperkeratosis |
|
Bullous Congenital Ichthyosiform Erythroderma
|
Bullous Ichthyosiform Erythroderma
|
|
EHK
|
Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
|
|
Bcie
|
Bie
|
|
Epidermolytic Ichthyosis
|
Ichthyosis Bullosa Of Siemens
|
|
Superficial Epidermolytic Ichthyosis
|
Hyperkeratosis, Epidermolytic
|
|
Congenital Bullous Ichthyosiform Erythroderma
|
Bullous Type Ichthyosis
|
|
Epidermolytic Palmoplantar Hyperkeratosis
|
Bullous Ichthyosiform Erythroderma Congenita
|
|
Bullous Erythroderma Ichthyosiforme
|
Sei
|
|
Epidermolytic Hyperkeratosis Late-Onset
|
Epidermolytic Hyperkeratosis, Late-Onset
|
|
|
| Epidermolysis Bullosa Simplex Generalized Type |
|
Epidermolysis Bullosa Simplex, Koebner Type
|
Epidermolysis Bullosa Simplex Koebner Type
|
|
Epidermolysis Bullosa Simplex, Generalized
|
Ebs, Generalized
|
|
Ebs-K
|
Epidermolysis Bullosa Simplex, Generalized Non-Dowling-Meara
|
|
Generalized Ebs
|
Epidermolysis Bullosa Simplex Kobner
|
|
|
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
LSDMCA2
|
Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies
|
|
Aplcc
|
Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
|
|
|
| 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
|
|
|
| Epithelial And Subepithelial Dystrophy |
|
|
| Junctional Epidermolysis Bullosa |
|
Epidermolysis Bullosa, Junctional
|
Jeb
|
|
Epidermolysis Bullosa Atrophicans
|
Congenital Junctional Epidermolysis Bullosa
|
|
Epidermolysis Bullosa Junctional
|
Junctional Eb - [Epidermolysis Bullosa]
|
|
Jeb - [Junctional Epidermolysis Bullosa]
|
Lucidolytic Epidermolysis Bullosa
|
|
|
| Epidermolysis Bullosa Dystrophica |
|
Dystrophic Epidermolysis Bullosa
|
Deb
|
|
Dermolytic Epidermolysis Bullosa
|
Epidermolysis Bullosa, Dermolytic
|
|
Epidermolysis Bullosa, Dystrophic
|
Epidermolysis Bullosa Dystrophic
|
|
Dystrophic Eb - [Epidermolysis Bullosa]
|
|
|
| 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
|
|
|
| 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
|
|
|
| Scapuloperoneal Myopathy |
|
|
| Urethral Stricture |
|
Ankylurethria
|
Urethral Stenosis
|
|
Urethral Contracture
|
Urethral Obstruction
|
|
Meatal Stenosis Nos
|
Constriction Of Urethra
|
|
Contraction Of Urethra
|
Stricture Of Urinary Meatus
|
|
Urethral Obliteration
|
Urethral Narrowing
|
|
Pinpoint Meatus
|
Pinhole Meatus Nos
|
|
Urethral Occlusion
|
|
|
| Kindler Syndrome |
|
Poikiloderma Of Kindler
|
Bullous Acrokeratotic Poikiloderma Of Kindler And Weary
|
|
Congenital Bullous Poikiloderma
|
KNDLRS
|
|
Poikiloderma, Hereditary Acrokeratotic
|
Poikiloderma, Congenital, With Bullae, Weary Type
|
|
Kindler'S Syndrome
|
Poikiloderma Congenital With Bullae Weary Type
|
|
Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary
|
Hereditary Acrokeratotic Poikiloderma
|
|
Weary Syndrome
|
Poikiloderma Hereditary Acrokeratotic
|
|
Potassium Deficiency
|
|
|
| Axonal Neuropathy |
|
|
| 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
|
|
|
| Recessive Dystrophic Epidermolysis Bullosa |
|
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis
|
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
|
|
Rdeb, Hallopeau-Siemens Type
|
Severe Generalized Rdeb
|
|
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa
|
Rdeb Generalisata Gravis
|
|
Rdeb, Severe Generalized
|
Rdeb-Sev Gen
|
|
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized
|
Hallopeau-Siemens Disease
|
|
|
| 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]
|
|
|
| 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
|
|
|
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Megaconial Type Congenital Muscular Dystrophy
|
Congenital Megaconial Myopathy
|
|
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect
|
Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
|
|
Megaconial Congenital Muscular Dystrophy
|
MDCMC
|
|
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities
|
Megaconial Congénital Muscular Dystrophy
|
|
Dystrophy, Muscular, Congenital, Megaconial Type
|
|
|
| Palmoplantar Keratoderma, Epidermolytic |
|
Epidermolytic Palmoplantar Keratoderma
|
EPPK
|
|
Keratosis Palmaris Et Plantaris Familiaris
|
Tylosis
|
|
Keratosis Of Greither
|
Diffuse Nonepidermolytic Palmoplantar Keratoderma
|
|
Keratoderma, Palmoplantar, Epidermolytic
|
Unna-Thost Palmoplantar Keratoderma
|
|
Epidermolytic Palmoplantar Keratoderma Of Voerner
|
Ppke
|
|
Keratoderma, Epidermolytic Palmoplantar
|
Palmoplantar Keratoderma, Vorner Type
|
|
Hyperkeratosis, Localized Epidermolytic
|
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
|
|
Epidermolytic Palmoplantar Keratoderma Of Vörner
|
Hyperkeratosis Palmoplantar Localized Epidermolytic
|
|
Diffuse Neppk
|
Ppk Diffusa Circumscripta
|
|
Thost-Unna Disease
|
Thost-Unna Palmoplantar Keratoderma
|
|
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type
|
Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
|
|
Epidermolytic Palmoplantar Keratoderma Of Vorner
|
Ehppk
|
|
Epidermolytic Unna-Thost Disease
|
Localized Epidermolytic Hyperkeratosis
|
|
Palmoplantar Keratoderma Vorner Type
|
Unilateral Palmoplantar Verrucous Nevus
|
|
UPVN
|
Keratoderma, Palmoplantar, Diffuse
|
|
Hyperkeratosis
|
Palmoplantar Keratoderma, Nonepidermolytic
|
|
Epidermolytic Palmoplantar Keratoderma Vorner Type
|
Type B Tylosis
|
|
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas
|
Type A Tylosis
|
|
|
| Cardiomyopathy, Dilated, 1g |
|
Dilated Cardiomyopathy 1g
|
CMD1G
|
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
| Transient Bullous Dermolysis Of The Newborn |
|
TBDN
|
Transient Bullous Of The Newborn
|
|
Epidermolysis Bullosa Dystrophica, Neonatal Form
|
Dystrophic Epidermolysis Bullosa, Neonatal
|
|
Deb, Bullous Dermolysis Of The Newborn
|
Deb-Bdn
|
|
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form
|
Self-Improving Dystrophic Epidermolysis Bullosa
|
|
Self-Improving Deb
|
Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
|
|
|
| Pachyonychia Congenita 1 |
|
Pachyonychia Congenita
|
Jadassohn-Lewandowsky Syndrome
|
|
Pachyonychia Congenita Syndrome
|
PC1
|
|
Pachyonychia Congenita, Jadassohn-Lewandowsky Type
|
Congenital Pachyonychia
|
|
Pachyonychia Congenita, Type 1
|
Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
|
|
Jadassohn-Lewandowsky Syndrome, Formerly
|
Jackson-Lawler Type Pachyonychia Congenita
|
|
Pachyonychia Congenita Type 1
|
Jackson-Lawler Syndrome
|
|
Jadassohn-Lewandowski Syndrome
|
Pc
|
|
Pachyonychia Congenita Jackson-Lawler Type
|
Pachyonychia Congenita Jadassohn-Lewandowsky Type
|
|
Pachyonychia Congenita Jackson Lawler Type
|
Pc-1
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Pachyonychia Congenita, Type 2
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Familial Woolly Hair Syndrome |
|
Wooly Hair
|
Familial Wooly Hair Syndrome
|
|
Hereditary Woolly Hair Syndrome
|
Hereditary Wooly Hair Syndrome
|
|
Woolly Hair
|
Syndrome With Woolly Hair
|
|
Wooly Hair Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| 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
|
|
|
