| 疾病名称 |
别名 |
|
| Lethal Congenital Contracture Syndrome 1 |
|
LCCS1
|
Multiple Contracture Syndrome, Finnish Type
|
|
Lccs
|
Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures
|
|
Lethal Congenital Contracture Syndrome Type 1
|
Herva Disease
|
|
Multiple Contracture Syndrome Finnish Type
|
Contracture Syndrome, Lethal, Congenital, Type 1
|
|
|
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
CAAHD
|
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
|
Lethal Arthrogryposis-Anterior Horn Cell Disease Syndrome
|
Lethal Arthrogryposis With Anterior Horn Cell Disease, Formerly
|
|
Laahd, Formerly
|
Arthrogryposis-Anterior Horn Cell Disease Syndrome
|
|
Aahd
|
Vuopala Disease
|
|
Laahd
|
Arthrogryposis, Lethal, With Anterior Horn Cell Disease
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Lethal Congenital Contracture Syndrome |
|
Lccs
|
Lethal Congenital Contracture Syndrome 1
|
|
|
| Anterior Horn Cell Disease |
|
|
| Lethal Congenital Contracture Syndrome 2 |
|
LCCS2
|
Lethal Congenital Contractural Syndrome 2
|
|
Multiple Contracture Syndrome, Israeli-Bedouin Type
|
Multiple Contracture Syndrome, Israeli Bedouin Type A
|
|
Multiple Contracture Syndrome, Israeli Bedouin Type
|
Lethal Congenital Contracture Syndrome Type 2
|
|
Israeli Bedouin Multiple Contracture Syndrome Type A
|
Contracture Syndrome, Lethal, Congenital, Type 2
|
|
|
| Cranioectodermal Dysplasia 4 |
|
CED4
|
Sensenbrenner Syndrome 4
|
|
Dysplasia, Cranioectodermal, Type 4
|
|
|
| Arthrogryposis, Distal, Type 4 |
|
Distal Arthrogryposis Type 4
|
DA4
|
|
Daiid
|
Arthrogryposis-Severe Scoliosis Syndrome
|
|
Distal Arthrogryposis Type Iid
|
Arthrogryposis With Severe Scoliosis
|
|
Arthrogryposis, Distal, Type Iid
|
|
|
| Arthrogryposis, Distal, Type 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| Arthrogryposis, Distal, Type 5 |
|
Oculomelic Amyoplasia
|
Distal Arthrogryposis Type 5
|
|
Distal Arthrogryposis Type Iib
|
DA5
|
|
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Daiib
|
|
Distal Arthrogryposis Type 2b
|
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Distal Arthrogryposis With Ophthalmoplegia
|
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Arthrogryposis, Distal, Type Iib
|
Da2b
|
|
Freeman-Sheldon Syndrome Variant
|
Sheldon-Hall Syndrome
|
|
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Arthrogryposis Ophthalmoplegia Retinopathy
|
|
Arthrogryposis, Distal, 5
|
Arthrogryposis, Distal, Type 2b
|
|
|
| Myasthenic Syndrome, Congenital, 4b, Fast-Channel |
|
Congenital Myasthenic Syndrome 4b
|
CMS4B
|
|
Congenital Myasthenic Syndrome 4b Fast-Channel
|
Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Allgrove Syndrome
|
Triple-A Syndrome
|
|
Achalasia-Addisonianism-Alacrimia Syndrome
|
Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
|
|
Triple A Syndrome
|
Aaa Syndrome
|
|
AAAS
|
Glucocorticoid Deficiency With Achalasia
|
|
Glucocorticoid Deficiency And Achalasia
|
Addisonian-Achalasia Syndrome
|
|
Hypoadrenalism With Achalasia
|
Alacrima-Achalasia-Addisonianism
|
|
Aaa
|
Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
|
|
Achalasia Addisonianism Alacrimia Syndrome
|
Achalasia Alacrima Syndrome
|
|
Addisonian Achalasia Syndrome
|
Achalasia-Addisonian Syndrome
|
|
Achalasia-Alacrima Syndrome
|
2a Syndrome
|
|
3a Syndrome
|
4a Syndrome
|
|
Adrenal Insufficiency-Achalasia-Alacrima Syndrome
|
Double A Syndrome
|
|
Quaternary A Syndrome
|
Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
|
|
Allgrove'S Syndrome
|
Adrenal Gland Hypofunction
|
|
Adrenal Cortical Hypofunction
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 4c
|
CMS4C
|
|
Cms Id
|
Cms1d
|
|
Congenital Myasthenic Syndrome Type Id
|
Fim1
|
|
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type Id
|
|
Cms1d, Formerly
|
Cms Id, Formerly
|
|
Myasthenia, Familial Infantile, 1, Formerly
|
Fim1, Formerly
|
|
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
|
Familial Infantile Myasthenia 1
|
|
Cms1e
|
Cms-Achrd
|
|
Cms Ie
|
Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
|
|
Congenital Myasthenic Syndrome Type 1d
|
Congenital Myasthenic Syndrome Type 1e
|
|
Congenital Myasthenic Syndrome Type Ie
|
Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenia, Familial Infantile, 1
|
Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenic Syndrome, Congenital, Ie
|
|
|
| Arthrogryposis, Distal, Type 7 |
|
Hecht Syndrome
|
Trismus-Pseudocamptodactyly Syndrome
|
|
Distal Arthrogryposis Type 7
|
Dutch-Kentucky Syndrome
|
|
DA7
|
Hecht-Beals Syndrome
|
|
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
|
Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
|
|
Arthrogryposis Distal Type 7
|
Trismus Pseudocamptodactyly Syndrome
|
|
Arthrogryposis, Distal, 7
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
|
Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| 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]
|
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
FTDALS1
|
Frontotemporal Dementia And/Or Motor Neuron Disease
|
|
Ftdmnd
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
|
|
Alsftd
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Ftdals
|
Ftd-Als
|
|
Ftd-Mnd
|
Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1
|
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
|
|
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
|
|
Frontotemporal Lobar Degeneration
|
Grn-Related Frontotemporal Dementia
|
|
|
