| Diseases |
Alias |
|
| Myopathy, Congenital, With Tremor |
|
|
| Arthrogryposis, Distal, Type 1b |
|
DA1B
|
Distal Arthrogryposis Type 1b
|
|
Arthrogryposis, Distal, 1b
|
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
LCCS4
|
Contracture Syndrome, Lethal, Congenital, Type 4
|
|
|
| Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
|
Mybpc1-Related Autosomal Recessive Non-Lethal Amc Syndrome
|
|
|
| Lethal Congenital Contracture Syndrome 3 |
|
LCCS3
|
Lethal Congenital Contractural Syndrome 3
|
|
Multiple Contracture Syndrome, Israeli Bedouin Type B
|
Israeli Bedouin Type B Multiple Contracture Syndrome
|
|
Lethal Congenital Contracture Syndrome Type 3
|
Multiple Contractural Syndrome Israeli Bedouin Type B
|
|
Contracture Syndrome, Lethal, Congenital, Type 3
|
|
|
| Arthrogryposis, Distal, Type 1a |
|
Distal Arthrogryposis Type 1
|
Digitotalar Dysmorphism
|
|
DA1A
|
Da1
|
|
Amcd1
|
Arthrogryposis, Distal, Type 2b4
|
|
Distal Arthrogryposis Type 1a
|
Arthrogryposis, Distal, Type 1
|
|
Arthrogryposis Multiplex Congenita Distal Type 1
|
Arthrogryposis Multiplex Congenita, Distal Type 1
|
|
Arthrogryposis Multiplex Congenita, Distal, Type I
|
Distal Arthrogryposis Type 1b
|
|
Arthrogryposis, Distal, 1a
|
Amc
|
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis, Distal, 2b4
|
|
DA2B4
|
Arthrogryposis Multiplex Congenita, Distal, Type 1
|
|
Arthrogryposis
|
|
|
| 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]
|
|
|
| Lethal Congenital Contracture Syndrome |
|
Lccs
|
Lethal Congenital Contracture Syndrome 1
|
|
|
| Arthrogryposis, Distal, Type 2a |
|
Freeman-Sheldon Syndrome
|
Craniocarpotarsal Dystrophy
|
|
Craniocarpotarsal Dysplasia
|
DA2A
|
|
Whistling Face-Windmill Vane Hand Syndrome
|
Fss
|
|
Distal Arthrogryposis Type 2a
|
Whistling Face Syndrome
|
|
Freeman-Burian Syndrome
|
Arthrogryposis Distal Type 2a
|
|
Distal Arthrogryposis, Type 2a
|
Fbs
|
|
Arthrogryposis, Distal, 2a
|
|
|
| Arthrogryposis, Distal, Type 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| 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
|
|
|
| Tremor |
|
Medicament-Induced Tremor
|
Medication-Induced Postural Tremor
|
|
|
| Arthrogryposis, Distal, Type 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| 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
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Myopathy, Myofibrillar, 8 |
|
Myofibrillar Myopathy 8
|
MFM8
|
|
Myopathy, Myofibrillar, Type 8
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic Cardiomyopathy 4
|
CMH4
|
|
Cardiomyopathy, Hypertrophic, 4
|
Cardiomyopathy, Familial Hypertrophic 4
|
|
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To
|
Cardiomyopathy, Hypertrophic, Familial, Type 4
|
|
|
| Myopathy, Myofibrillar, 7 |
|
Myofibrillar Myopathy 7
|
MFM7
|
|
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome
|
Myopathy, Myofibrillar, Type 7
|
|
|
| Myopathy, Centronuclear, 4 |
|
CNM4
|
Centronuclear Myopathy 4
|
|
Congenital Myopathy With Internal Nuclei And Atypical Cores
|
Centronuclear Myopathy Type 4
|
|
Myopathy, Centronuclear, Type 4
|
|
|
| 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
|
|
|
| Myopathy, Centronuclear, 5 |
|
CNM5
|
Centronuclear Myopathy 5
|
|
Myopathy, Centronuclear, Type 5
|
|
|
| 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
|
|
|
| Myasthenic Syndrome, Congenital, 4b, Fast-Channel |
|
Congenital Myasthenic Syndrome 4b
|
CMS4B
|
|
Congenital Myasthenic Syndrome 4b Fast-Channel
|
Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
|
|
|
| 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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Brody Disease |
|
Brody Myopathy
|
BROD
|
|
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency
|
Myopathy, Brody
|
|
|
| Primary Optic Atrophy |
|
|
| Atrophic Muscular Disease |
|
Muscular Disorders, Atrophic
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cerebral Creatine Deficiency Syndrome 1 |
|
Creatine Transporter Deficiency
|
Creatine Transporter Defect
|
|
Slc6a8 Deficiency
|
X-Linked Creatine Deficiency Syndrome
|
|
CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
|
X-Linked Creatine Deficiency
|
Creatine Deficiency, X-Linked
|
|
X-Linked Creatine Transporter Deficiency
|
Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
|
Mental Retardation, X-Linked, With Creatine Transport Deficiency
|
Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
|
Intellectual Disability, X-Linked, With Creatine Transport Deficiency
|
Slc6a8-Related Creatine Transporter Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 1
|
|
|
| Fissured Tongue |
|
Furrowed Tongue
|
Plicated Tongue
|
|
Tongue, Fissured
|
Congenital Fissure Of Tongue
|
|
Congenital Plicated Tongue
|
Fissure Of Tongue
|
|
Fissure Of Tongue, Congenital
|
Geographic Tongue And Fissured Tongue
|
|
Lingua Plicata
|
Scrotal Tongue
|
|
|
| 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
|
|
|
| Spondylocarpotarsal Synostosis Syndrome |
|
SCT
|
Spondylocarpotarsal Syndrome
|
|
Vertebral Fusion With Carpal Coalition
|
Congenital Scoliosis With Unilateral Unsegmented Bar
|
|
Congenital Synspondylism
|
Spondylocarpotarsal Synostosis
|
|
Synspondylism, Congenital
|
Scoliosis, Congenital, With Unilateral Unsegmented Bar
|
|
Scoliosis, Congenital With Unilateral Unsegmented Bar
|
Synspondylism Congenital
|
|
Sct Syndrome
|
Synspondylism
|
|
|
| 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
|
|
|
| Scoliosis |
|
|
| 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
|
|
|
