| 疾病名称 |
别名 |
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| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
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Congenital Myasthenic Syndrome 11
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CMS11
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Cms Ie
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Cms1e
|
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Myasthenic Syndrome, Congenital, Ie
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Myasthenic Syndrome, Congenital, Ie, Formerly
|
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Cms1e, Formerly
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Cms Ie, Formerly
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Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency
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Congenital Myasthenic Syndrome 1e
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Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency
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| Fetal Akinesia Deformation Sequence 2 |
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FADS2
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Fetal Akinesia Deformation Sequence Syndrome 2
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Akinesia, Fetal, Deformation Sequence, Type 2
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| Fetal Akinesia Deformation Sequence 1 |
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Fetal Akinesia Deformation Sequence
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Fads
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Fetal Akinesia Sequence
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FADS1
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Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
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Pena-Shokeir Syndrome Type 1
|
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Fetal Akinesia Deformation Sequence Syndrome
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Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
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Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
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Pena-Shokeir Syndrome, Type I
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Foetal Akinesia Deformation Sequence Syndrome
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Foetal Akinesia Sequence
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Fetal Akinesia Deformation Sequence Syndrome 1
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Pena-Shokeir Syndrome, Type 1
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Pena Shokeir Syndrome, Type 1
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Akinesia, Fetal, Deformation Sequence
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Akinesia, Fetal, Deformation Sequence, Type 1
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Pena-Shokeir Syndrome Type I
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| Postsynaptic Congenital Myasthenic Syndromes |
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Congenital Myasthenic Syndromes, Postsynaptic
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| Congenital Myasthenic Syndrome |
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Congenital Myasthenia
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Congenital Myasthenic Syndromes
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Cms
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Myasthenic Syndromes, Congenital
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Myasthenic Syndromes Congenital
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Myasthenic Syndrome, Congenital
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Congenital Myasthenic Syndrome Ib
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Congenital And Developmental Myasthenia
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Developmental Myasthenia
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| Distal Arthrogryposis |
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Arthrogryposis Multiplex Congenita
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Arthrogryposis
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Congenital Multiple Arthrogryposis
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Congenital Arthromyodysplasia
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Fibrous Ankylosis Of Multiple Joints
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Guerin-Stern Syndrome
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Guérin-Stern Syndrome
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Myodystrophia Fetalis Deformans
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Otto Syndrome
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Rocher-Sheldon Syndrome
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Rossi Syndrome
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Amc
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Multiple Congenital Arthrogryposis
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Arthrogryposis Syndrome
|
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Arthrogryposis, Distal
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Distal Arthrogryposis Syndrome
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Freeman-Sheldon Syndrome
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Arthrogryposis, Distal, Type 2b
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Congenital Multiplex Arthrogryposis
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Amyoplasia Congenita
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Congenital Amyoplasia
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Amc - [Arthrogryposis Multiplex Congenita]
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| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
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Congenital Myasthenic Syndrome 4c
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CMS4C
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Cms Id
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Cms1d
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Congenital Myasthenic Syndrome Type Id
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Fim1
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Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
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Myasthenic Syndrome, Congenital, Type Id
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Cms1d, Formerly
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Cms Id, Formerly
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Myasthenia, Familial Infantile, 1, Formerly
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Fim1, Formerly
|
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Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
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Familial Infantile Myasthenia 1
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Cms1e
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Cms-Achrd
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Cms Ie
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Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
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Congenital Myasthenic Syndrome Type 1d
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Congenital Myasthenic Syndrome Type 1e
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Congenital Myasthenic Syndrome Type Ie
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Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
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Myasthenia, Familial Infantile, 1
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Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
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Myasthenic Syndrome, Congenital, Ie
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| Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency |
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Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
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| Hydrops Fetalis, Nonimmune |
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Hydrops Fetalis
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Non-Immune Hydrops Fetalis
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NIHF
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Familial Non-Immune Hydrops Fetalis
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Hydrops Fetalis Nonimmune
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Idiopathic Hydrops Fetalis
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Hb Bart'S Hydrops Fetalis
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Alpha-Thalassemia Hydrops Fetalis
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Alpha-Thalassemia Major
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Hemoglobin Bart'S Hydrops Fetalis
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Homozygous Alpha0-Thalassemia
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Fetal Anasarca
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Fetal Hydrops
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Generalized Fetal Edema
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Hf
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Non-Immune Hf
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Non-Immune Fetal Edema
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Non-Immune Fetal Hydrops
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Hydrops Fetalis, Non-Immune
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Hemoglobin Bart'S Hydrops Syndrome
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| Myasthenia Gravis |
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MG
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Acquired Myasthenia
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Autoimmune Myasthenia Gravis
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Erb-Goldflam Disease
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Mg - [Myasthenia Gravis]
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Myasthenia Gravis Nos
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Myasthenia
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| Multiple Pterygium Syndrome, Lethal Type |
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LMPS
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Lethal Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Lethal Type
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Multiple Pterygium Syndrome Lethal Type
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Pterygium Syndrome Multiple Lethal Type
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Autosomal Recessive Lethal Multiple Pterygium Syndrome
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| Neuromuscular Junction Disease |
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Neuromuscular Junction Diseases
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Multiple Pterygium Syndrome, Escobar Variant |
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Multiple Pterygium Syndrome
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Pterygium
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Escobar Syndrome
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EVMPS
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Pterygium Syndrome
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Autosomal Recessive Multiple Pterygium Syndrome
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Pterygium Colli Syndrome
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Pterygium Universale
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Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
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Escobar Variant Multiple Pterygium Syndrome
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Multiple Pterygium Syndrome, Nonlethal Type
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Surfer'S Eye
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Multiple Pterygium Syndrome Escobar Type
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Multiple Pterygium Syndrome Nonlethal Type
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Familial Pterygium Syndrome
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Pterygium Colli
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Multiple Pterygium Syndrome, Non-Lethal Type
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Nonlethal Type Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Escobar Type
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Pterygium Of Eye
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Web Eye
|
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| Myasthenic Syndrome, Congenital, 5 |
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Endplate Acetylcholinesterase Deficiency
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Congenital Myasthenic Syndrome 5
|
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CMS5
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Ead
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Engel Congenital Myasthenic Syndrome
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Myasthenic Syndrome, Congenital, Engel Type
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Cms Ic
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Congenital Myasthenic Syndrome Type Ic
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Congenital Myasthenic Syndrome Type Ic, Formerly
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Cms1c, Formerly
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Cms Ic, Formerly
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Congenital Myasthenic Syndrome Engel Type
|
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End Plate Acetylcholinesterase Deficiency
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Synaptic Congenital Myasthenic Syndromes
|
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Cms1c
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Cmse
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Congenital Myasthenic Syndrome Type 1c
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End-Plate Acetylcholinesterase Deficiency
|
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Myasthenic Syndrome, Congenital, Type 5
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| Ptosis |
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Blepharoptosis
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Drooping Eyelid
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Droopy Eyelid
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Ptosis Of Eyelid
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Paralysis Of Levator Palpebrae Superioris
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| Myasthenic Syndrome, Congenital, 6, Presynaptic |
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Familial Infantile Myasthenia
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CMS6
|
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Cmsea
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Congenital Myasthenic Syndrome 6
|
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Familial Infantile Myasthenia Gravis 2
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Fimg2
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Myasthenic Syndrome, Congenital, Associated With Episodic Apnea
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Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
|
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Congenital Myasthenic Syndrome Type Ia2, Formerly
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Cms1a2, Formerly
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Cms Ia2, Formerly
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Myasthenia, Familial Infantile, Formerly
|
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Fim, Formerly
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Myasthenia Gravis, Familial Infantile, 2, Formerly
|
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Fimg2, Formerly
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Cms Ia2
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Cms1a2
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Congenital Myasthenic Syndrome 6, Presynaptic
|
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Congenital Myasthenic Syndrome Type Ia2
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Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
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Fim
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Cms1a
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Cms-Ea
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Cms Ia
|
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Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea
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Congenital Myasthenic Syndrome Type 1a
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Congenital Myasthenic Syndrome Type Ia
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Myasthenic Syndrome, Congenital, Type 6, Presynaptic
|
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| Cenani-Lenz Syndactyly Syndrome |
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Syndactyly Type 7
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Cenani Syndactylism
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Cenani-Lenz Syndactyly
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CLSS
|
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Syndactyly Cenani Lenz Type
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Cenani-Lenz Syndrome
|
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Syndactyly, Type Vii
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Cenani-Lenz Type Syndactyly
|
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Cenani Syndactyly
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Syndactyly Type Vii
|
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| Polyhydramnios |
|
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| Marcus Gunn Phenomenon |
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Jaw-Winking Syndrome
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Marcus-Gunn Syndrome
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Jaw-Winking
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Maxillopalpebral Synkinesis
|
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Abnormal Innervation Syndrome Of Eyelid
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Jaw-Blinking
|
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Pterygoid-Levator Synkinesis
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Familial Marcus Gunn Phenomenon
|
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Marcus Gunn Syndrome
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Mandibulo-Palpebral Synkinesis-Ptosis Syndrome
|
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Marcus-Gunn Phenomenon
|
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| Sclerosteosis 2 |
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SOST2
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Sclerosteosis, Type 2
|
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| Myasthenic Syndrome, Congenital, 12 |
|
Congenital Myasthenic Syndrome 12
|
CMS12
|
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Myasthenic Syndrome, Congenital, With Tubular Aggregates 1
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Cmsta1
|
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Myasthenia, Congenital, 12, With Tubular Aggregates
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Congenital Myasthenia 12 With Tubular Aggregates
|
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Limb-Girdle Myasthenia With Tubular Aggregates
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Myasthenia, Congenital, With Tubular Aggregates 1
|
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Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1
|
|
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| Neonatal Myasthenia Gravis |
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Myasthenia Gravis, Neonatal
|
|
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| Cystic Lymphangioma |
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Cystic Hygroma
|
Cavernous Lymphangioma
|
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Macrocystic Lymphatic Malformation
|
Cavernous Lymphatic Malformation
|
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Macrocystic Lymphangioma
|
Lymphangioma, Cystic
|
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| Myasthenic Syndrome, Congenital, 13 |
|
Congenital Myasthenic Syndrome 13
|
CMS13
|
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Cmsta2
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Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
|
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Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates
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Congenital Myasthenic Syndrome 13 With Tubular Aggregates
|
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Congenital Myasthenic Syndrome With Tubular Aggregates 2
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Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2
|
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Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
|
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| Congenital Ptosis |
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Congenital Blepharoptosis
|
Congenital Eyelid Ptosis
|
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| Lymphedema-Distichiasis Syndrome |
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Lymphedema With Distichiasis
|
Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus
|
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LPHDST
|
Distichiasis-Lymphedema Syndrome
|
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Lymphedema Distichiasis Syndrome
|
Hereditary Lymphedema-Distichiasis Syndrome
|
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Lymphedema Distichiasis
|
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| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
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Neuromuscular Disorder
|
|
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| Ocular Motility Disease |
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Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
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Disorder Of Eye Movements
|
Eye Movement Disorder
|
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Eye Movement Disorders
|
|
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| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
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Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
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