| Diseases |
Alias |
|
| Multiple Pterygium Syndrome, Lethal Type |
|
LMPS
|
Lethal Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Lethal Type
|
Multiple Pterygium Syndrome Lethal Type
|
|
Pterygium Syndrome Multiple Lethal Type
|
Autosomal Recessive Lethal Multiple Pterygium Syndrome
|
|
|
| Myasthenic Syndrome, Congenital, 3c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 3c
|
CMS3C
|
|
Congenital Myasthenic Syndrome 3c Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type 3c, Associated With Acetylcholine Receptor Deficiency
|
|
|
| Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
|
Congenital Myasthenic Syndrome 3a
|
CMS3A
|
|
Congenital Myasthenic Syndrome 3a, Slow-Channel
|
Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel
|
|
|
| Myasthenic Syndrome, Congenital, 3b, Fast-Channel |
|
CMS3B
|
Congenital Myasthenic Syndrome 3b
|
|
Congenital Myasthenic Syndrome 3b, Fast-Channel
|
Myasthenic Syndrome, Congenital, Type 3b, Fast-Channel
|
|
|
| Myasthenic Syndrome, Congenital, 1b, Fast-Channel |
|
CMS1B
|
Congenital Myasthenic Syndrome 1b
|
|
Myasthenic Syndrome, Congenital, Fast-Channel
|
Congenital Myasthenic Syndrome 1b, Fast-Channel
|
|
Fccms
|
Myasthenic Syndrome, Fast-Channel Congenital
|
|
Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel
|
Congenital Myasthenic Syndrome Ib
|
|
|
| Myasthenic Syndrome, Congenital, 2a, Slow-Channel |
|
CMS2A
|
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
|
|
Myasthenic Syndrome, Congenital, Type Iia
|
Sccms
|
|
Myasthenic Syndrome, Slow-Channel Congenital
|
Slow-Channel Congenital Myasthenic Syndrome
|
|
Cms Iia
|
Myasthenic Syndrome, Congenital, Slow-Channel
|
|
Slow Channel Congenital Myasthenic Syndrome
|
Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel
|
|
Myasthenic Syndromes, Congenital, Slow Channel
|
|
|
| Postsynaptic Congenital Myasthenic Syndromes |
|
Congenital Myasthenic Syndromes, Postsynaptic
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| Brain Angioma |
|
|
| Neuromuscular Junction Disease |
|
Neuromuscular Junction Diseases
|
|
|
| Myasthenic Syndrome, Congenital, 13 |
|
Congenital Myasthenic Syndrome 13
|
CMS13
|
|
Cmsta2
|
Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
|
|
Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates
|
Congenital Myasthenic Syndrome 13 With Tubular Aggregates
|
|
Congenital Myasthenic Syndrome With Tubular Aggregates 2
|
Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2
|
|
Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
|
|
|
| Cystic Lymphangioma |
|
Cystic Hygroma
|
Cavernous Lymphangioma
|
|
Macrocystic Lymphatic Malformation
|
Cavernous Lymphatic Malformation
|
|
Macrocystic Lymphangioma
|
Lymphangioma, Cystic
|
|
|
| Myasthenic Syndrome, Congenital, 5 |
|
Endplate Acetylcholinesterase Deficiency
|
Congenital Myasthenic Syndrome 5
|
|
CMS5
|
Ead
|
|
Engel Congenital Myasthenic Syndrome
|
Myasthenic Syndrome, Congenital, Engel Type
|
|
Cms Ic
|
Congenital Myasthenic Syndrome Type Ic
|
|
Congenital Myasthenic Syndrome Type Ic, Formerly
|
Cms1c, Formerly
|
|
Cms Ic, Formerly
|
Congenital Myasthenic Syndrome Engel Type
|
|
End Plate Acetylcholinesterase Deficiency
|
Synaptic Congenital Myasthenic Syndromes
|
|
Cms1c
|
Cmse
|
|
Congenital Myasthenic Syndrome Type 1c
|
End-Plate Acetylcholinesterase Deficiency
|
|
Myasthenic Syndrome, Congenital, Type 5
|
|
|
| Oligohydramnios |
|
Oligohydramnios - Delivered
|
Antepartum Oligohydramnios
|
|
Delivered Oligohydramnios
|
Oligohydramnios, Antepartum Condition Or Complication
|
|
Deficient Liquor
|
Oligohydramnios, Unspecified Trimester
|
|
Reduced Liquor Volume
|
|
|
| Myasthenic Syndrome, Congenital, 14 |
|
Congenital Myasthenic Syndrome 14
|
CMS14
|
|
Cmsta3
|
Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
|
|
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates
|
Congenital Myasthenic Syndrome 14, With Tubular Aggregates
|
|
Congenital Myasthenic Syndrome With Tubular Aggregates 3
|
Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
|
|
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
|
|
|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Familial Infantile Myasthenia
|
CMS6
|
|
Cmsea
|
Congenital Myasthenic Syndrome 6
|
|
Familial Infantile Myasthenia Gravis 2
|
Fimg2
|
|
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea
|
Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
|
|
Congenital Myasthenic Syndrome Type Ia2, Formerly
|
Cms1a2, Formerly
|
|
Cms Ia2, Formerly
|
Myasthenia, Familial Infantile, Formerly
|
|
Fim, Formerly
|
Myasthenia Gravis, Familial Infantile, 2, Formerly
|
|
Fimg2, Formerly
|
Cms Ia2
|
|
Cms1a2
|
Congenital Myasthenic Syndrome 6, Presynaptic
|
|
Congenital Myasthenic Syndrome Type Ia2
|
Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
|
|
Fim
|
Cms1a
|
|
Cms-Ea
|
Cms Ia
|
|
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea
|
Congenital Myasthenic Syndrome Type 1a
|
|
Congenital Myasthenic Syndrome Type Ia
|
Myasthenic Syndrome, Congenital, Type 6, Presynaptic
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic Cardiomyopathy 9
|
CMH9
|
|
Cardiomyopathy, Familial Hypertrophic 9
|
Cardiomyopathy, Hypertrophic, Familial, Type 9
|
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
Paramyotonia Congenita
|
PMC
|
|
Paralysis Periodica Paramyotonica
|
Eulenburg Disease
|
|
Myotonia Congenita Intermittens
|
Von Eulenburg Paramyotonia Congenita
|
|
Paralysis Periodica Paramyotonia
|
Von Eulenberg'S Disease
|
|
Paramyotonia Congenita Without Cold Paralysis
|
Eulenburg Syndrome
|
|
Paramyotonia
|
|
|
| Scapuloperoneal Spinal Muscular Atrophy |
|
SPSMA
|
Amyotrophy, Neurogenic Scapuloperoneal, New England Type
|
|
Neurogenic Scapuloperoneal Amyotrophy, New England Type
|
Scapuloperoneal Neuronopathy
|
|
Spinal Muscular Atrophy, Scapuloperoneal
|
Amyotrophy Neurogenic Scapuloperoneal New England Type
|
|
Muscular Atrophy, Spinal
|
Scapuloperoneal Form Of Spinal Muscular Atrophy
|
|
|
| Hyperkalemic Periodic Paralysis |
|
HYPP
|
Gamstorp Disease
|
|
Gamstorp Episodic Adynamy
|
Adynamia Episodica Hereditaria With Or Without Myotonia
|
|
Familial Hyperkalemic Periodic Paralysis
|
Hyperkpp
|
|
Hyperpp
|
Adynamia Episodica Hereditaria
|
|
Primary Hyperkalemic Periodic Paralysis
|
Hyperkalemic Periodic Paralysis, Type 2
|
|
Sodium Channel Muscle Disease
|
Familial Hyperpp
|
|
Hyperkalemic Pp
|
Primary Hyperpp
|
|
Periodic Paralysis Hyperkalemic
|
Periodic Paralysis Normokalemic
|
|
NKPP
|
Periodic Paralysis Eukalemic
|
|
Paralysis, Hyperkalemic Periodic
|
Paralysis, Periodic, Hyperkalemic
|
|
Potassium Aggravated Myotonia
|
|
|
| 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
|
|
|
| Cerebral Cavernous Malformations |
|
Cerebral Cavernous Malformation
|
Cavernous Malformations Of Cns And Retina
|
|
Cerebral Cavernous Malformation 1
|
Cavernous Angiomatous Malformations
|
|
Cerebral Capillary Malformations
|
CCM
|
|
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
|
Familial Cavernous Angioma
|
|
Cavernous Angioma
|
Familial Cerebral Cavernous Malformation
|
|
Cerebral Cavernous Malformations 1
|
Cavernous Angioma, Familial
|
|
Cam
|
Cerebral Cavernous Malformations-1
|
|
Cavernoma
|
Central Nervous System Cavernous Hemangioma
|
|
Cerebral Cavernous Hemangioma
|
Familial Cavernous Hemangioma
|
|
Familial Cavernous Malformation
|
Familial Cerebral Cavernous Angioma
|
|
Intracerebral Cavernous Hemangioma
|
CCM1
|
|
Cavernous Hemangioma Of The Brain
|
Cerebral Cavernoma
|
|
Cerebral Cavernous Malformations, Type 1
|
Hemangioma, Cavernous, Central Nervous System
|
|
Hemangioma, Cavernous
|
Angioma, Cavernous
|
|
|
| Tobacco Addiction |
|
Nicotine Dependence
|
Tobacco Addiction, Susceptibility To
|
|
Nicotine Addiction
|
Tobacco Use Disorder
|
|
Smoking Habit
|
Nicotine Dependence, Protection Against
|
|
Nicotine Addiction, Protection From
|
Cigarette Habituation
|
|
Cigarette Habituation, Susceptibility To
|
Smoking Habit, Susceptibility To
|
|
Nicotine Dependence, Susceptibility To
|
Nicotine Addiction, Susceptibility To
|
|
Addiction, Tobacco, Susceptibility To
|
Compulsive Tobacco User Syndrome
|
|
Tobacco Dependence
|
Tobacco Dependence Syndrome
|
|
Cigarette Addiction
|
Cigarette Dependence
|
|
Smoking Addiction
|
Smokers Syndrome
|
|
|
| Congenital Ptosis |
|
Congenital Blepharoptosis
|
Congenital Eyelid Ptosis
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| 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
|
|
|
