| Diseases |
Alias |
|
| Schwartz-Jampel Syndrome, Type 1 |
|
Schwartz-Jampel Syndrome
|
SJS1
|
|
Schwartz-Jampel-Aberfeld Syndrome
|
Sjs
|
|
Chondrodystrophic Myotonia
|
Schwartz-Jampel Syndrome Type 1
|
|
Sja Syndrome
|
Aberfeld Syndrome
|
|
Burton Skeletal Dysplasia
|
Burton Syndrome
|
|
Catel-Hempel Syndrome
|
Myotonic Chondrodystrophy
|
|
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies
|
Osteochondromuscular Dystrophy
|
|
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
|
Schwartz-Jampel Syndrome 1
|
|
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type
|
Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria
|
|
Schwartz Jampel Syndrome
|
Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities
|
|
Schwartz Jampel Aberfeld Syndrome
|
Congenital Blepharophimosis, Myopia, Myopathy Syndrome
|
|
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
|
|
|
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
DDSH
|
Silverman-Handmaker Type Dyssegmental Dysplasia
|
|
Dyssegmental Dysplasia Silverman-Handmaker Type
|
Dyssegmental Dwarfism Silverman-Handmaker Type
|
|
Dyssegmental Dwarfism, Silverman-Handmaker Type
|
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
|
|
Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type
|
Dysplasia, Dyssegmental, Silverman-Handmaker Type
|
|
|
| Gas Gangrene |
|
Myonecrosis
|
Gas Bacillus Infection
|
|
Gas Gangrene Due To Clostridia
|
Clostridial Myonecrosis
|
|
Clostridial Cellulitis
|
|
|
| Tardive Dyskinesia |
|
Drug-Induced Tardive Dyskinesia
|
Lingual-Facial-Buccal Dyskinesia
|
|
Neuroleptic-Induced Tardive Dyskinesia
|
|
|
| Myotonia |
|
|
| Childhood-Onset Schizophrenia |
|
Childhood Schizophrenia
|
Schizophrenia, Childhood
|
|
|
| Chromosome 1p36 Deletion Syndrome |
|
1p36 Deletion Syndrome
|
Deletion 1p36
|
|
Monosomy 1p36
|
Subtelomeric 1p36 Deletion
|
|
Monosomy 1p36 Syndrome
|
Distal Monosomy 1p36
|
|
Del(1)(P36)
|
Deletion 1pter
|
|
Monosomy 1pter
|
|
|
| Sjogren Syndrome |
|
Sicca Syndrome
|
Sjogren'S Syndrome
|
|
Sjögren Syndrome
|
Sjogren-Gougerot Syndrome
|
|
Keratoconjunctivitis Sicca
|
Sjögren'S Syndrome
|
|
Xerodermosteosis
|
Dacryosialoadenopathia Atrophicans
|
|
Gougerot-Houwer-Sjogren Syndrome
|
Gougerot-Sjogren Syndrome
|
|
Keratoconjunctivitis Sicca-Xerostomia
|
Secreto-Inhibitor-Xerodermostenosis
|
|
Primary Sjogren Syndrome
|
Primary Sjogren-Gougerot Syndrome
|
|
Sjogrens Syndrome Primary
|
Sjogrens Syndrome
|
|
Dry Eye Syndromes
|
|
|
| Annular Erythema |
|
|
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Lipoid Proteinosis
|
Urbach-Wiethe Disease
|
|
Hyalinosis Cutis Et Mucosae
|
Lipid Proteinosis
|
|
Lipoproteinosis
|
Urbach Wiethe Disease
|
|
Lipoglycoproteinosis
|
Lipoidosis Cutis Et Mucosae
|
|
Lipoidproteinosis
|
Urbach-Wiethe Lipoid Proteinosis
|
|
Urbach-Wiethe Syndrome
|
LIP
|
|
Proteinosis Lipoid
|
|
|
| Aplasia Of Lacrimal And Salivary Glands |
|
ALSG
|
Congenital Absence Of Lacrimal Puncta And Salivary Glands
|
|
Xerostomia
|
Absence Of Salivary Glands
|
|
Parotid Aplasia Or Hypoplasia
|
Congenital Absence Of Lacrimal Puncta Or Salivary Glands
|
|
Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
|
|
|
| Severe Cutaneous Adverse Reaction |
|
Stevens-Johnson Syndrome
|
Toxic Epidermal Necrolysis
|
|
Drug-Induced Stevens Johnson Syndrome
|
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
|
|
Susceptibility To Severe Cutaneous Adverse Reaction
|
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis
|
|
Lyell'S Syndrome
|
Lyell Syndrome
|
|
Severe Cutaneous Adverse Reaction, Susceptibility To
|
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To
|
|
Hypersensitivity Syndrome, Carbamazepine-Induced
|
Stevens-Johnson Syndrome, Susceptibility To
|
|
Toxic Epidermal Necrolysis, Susceptibility To
|
Sjs/Ten
|
|
Susceptibility To Severe Cutaneous Adverse Reaction Ity To
|
Mycoplasma-Induced Stevens Johnson Syndrome
|
|
Dermatostomatitis, Stevens Johnson Type
|
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
|
|
Sjs-Ten
|
Toxic Epidermolysis
|
|
SJS
|
Dermatostomatitis Stevens Johnson Type
|
|
Ten
|
Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]
|
|
Ten - [Toxic Epidermal Necrolysis]
|
|
|
| Cholera |
|
Vibrio Cholerae Infection
|
Cholera - Vibrio Cholerae
|
|
Cholera Due To Vibrio Cholerae
|
Vibrio Cholerae
|
|
Cholera Syndrome
|
Asiatic Cholera
|
|
Epidemic Cholera
|
|
|
| Central Corneal Ulcer |
|
|
| Pertussis |
|
Whooping Cough
|
Bordetella Infections
|
|
Bordetella Infection
|
Bordetella Pertussis Infection
|
|
Wc - Whooping Cough
|
Whooping Cough Due To Unspecified Organism
|
|
Bordetellosis
|
Tussis Convulsiva
|
|
Whooping Cough, Unspecified Organism
|
Wc - [Whooping Cough]
|
|
Whooping Cough Due To B. Parapertussis
|
Infection Due To Bordetella Parapertussis
|
|
|
| Oligodendroglioma |
|
Oligodendroglial Neoplasm
|
Oligodendroglial Tumor
|
|
Oligodendroglial Tumors
|
Well Differentiated Oligodendroglioma
|
|
|
| Hereditary Multiple Exostoses |
|
Multiple Congenital Exostosis
|
Hereditary Multiple Exostoses 1
|
|
Hereditary Multiple Exostoses 2
|
Hereditary Multiple Exostoses 3
|
|
Multiple Exostosis Syndromes
|
Multiple Ostechondromas
|
|
Osteochondromatosis Syndrome
|
Exostoses Multiple Hereditary
|
|
Exostoses, Multiple Hereditary
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Gingival Overgrowth |
|
Gingival Enlargement
|
Gingival Hyperplasia
|
|
Gingival Bulge
|
Gingival Enlargement Nos
|
|
Gingival Hypertrophy
|
Gum Hypertrophy
|
|
Hyperplasia Gum
|
Gingival Thickening
|
|
Hyperplasia Of Gingiva
|
Hypertrophy Of Gingiva
|
|
Hypertrophy Of Mucous Membrane Of Gums
|
|
|
| Porencephaly |
|
|
| Exostosis |
|
Osteophyte
|
Exostoses
|
|
Orbital Exostosis
|
Exostosis Of Orbit
|
|
Bone Spur
|
Bony Outgrowth
|
|
Swimmer'S Exostosis
|
Osteophytes
|
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
| 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
|
|
|
| Pierson Syndrome |
|
Microcoria-Congenital Nephrotic Syndrome
|
Microcoria-Congenital Nephrosis Syndrome
|
|
PIERS
|
Microcoria - Congenital Nephrosis
|
|
Microcoria - Congenital Nephrotic Syndrome
|
PIERSS
|
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Dry Eye Syndrome |
|
Dry Eye Syndromes
|
Dry Eye Disease
|
|
Tear Film Insufficiency
|
Xerophthalmia
|
|
|
| Membranous Nephropathy |
|
Membranous Glomerulonephritis
|
Glomerulonephritis, Membranous
|
|
Idiopathic Membranous Nephropathy
|
Idiopathic Membranous Glomerulonephritis
|
|
MBNP
|
Membranous Nephropathy, Susceptibility To
|
|
Extramembranous Glomerulonephritis
|
Mgn
|
|
Membranous Gn
|
Primary Membranous Glomerulonephritis
|
|
Primary Membranous Nephropathy
|
Nephropathy Membranous
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Keratoconjunctivitis Sicca |
|
Kcs
|
Dry Eye Syndromes
|
|
Keratitis Sicca
|
Xerophthalmia
|
|
|
| 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
|
|
|
| Scoliosis |
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| 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
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Cystic Fibrosis |
|
Mucoviscidosis
|
CF
|
|
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
|
Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
|
|
Cystic Fibrosis Lung Disease, Modifier Of
|
Cystic Fibrosis Of Pancreas
|
|
Fibrocystic Disease Of Pancreas
|
Cf - [Cystic Fibrosis]
|
|
Cystic Fibrosis Nos
|
Fibrocystic Disease
|
|
Fibrocystic Disease Of The Pancreas
|
Mucoviscidosis Of Pancreas
|
|
Nonproliferative Fibrocystic Disease
|
Pancreatic Cystic Fibrosis
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Trombiculiasis |
|
|
| Episodic Ataxia, Type 8 |
|
Episodic Ataxia Type 8
|
EA8
|
|
Episodic Ataxia With Slurred Speech
|
|
|
| Alport Syndrome |
|
Hereditary Nephritis
|
Alport Syndrome, X-Linked
|
|
Hemorrhagic Hereditary Nephritis
|
Congenital Hereditary Hematuria
|
|
Hemorrhagic Familial Nephritis
|
Familial Nephritis
|
|
Thin Basement Membrane Disease
|
Thin Basement Membrane Nephropathy
|
|
Hematuria-Nephropathy-Deafness Syndrome
|
Hematuric Hereditary Nephritis
|
|
Hereditary Familial Congenital Hemorrhagic Nephritis
|
Hereditary Hematuria Syndrome
|
|
Hereditary Interstitial Pyelonephritis
|
Alport Deafness-Nephropathy
|
|
Alport Hearing Loss-Nephropathy
|
Alports Syndrome
|
|
Nephritis, Hereditary
|
|
|
| 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
|
|
|
| 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]
|
|
|
| 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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
Thoracic Aortic Aneurysm
|
Annuloaortic Ectasia
|
|
Familial Thoracic Aortic Aneurysm And Aortic Dissection
|
Familial Aortic Dissection
|
|
Familial Taad
|
Familial Thoracic Aortic Aneurysm
|
|
Congenital Aneurysm Of Ascending Aorta
|
Familial Aortic Aneurysm
|
|
Familial Thoracic Aortic Aneurysm And Dissection
|
Aortic Aneurysm, Thoracic
|
|
AAT1
|
Faa1
|
|
Aortic Dissection, Familial
|
Aortic Aneurysm, Familial Thoracic
|
|
Aneurysm, Thoracic Aortic
|
Faa
|
|
Ftaad
|
Taa
|
|
Taad
|
Cystic Medial Necrosis Of Aorta
|
|
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection
|
Aortic Aneurysm Thoracic
|
|
Familial Aortic Aneurysms
|
Aneurysm, Aortic, Thoracic, Familial, Type 1
|
|
Aneurysm Of Thoracic Aorta
|
Intrathoracic Aneurysm
|
|
Thoracic Aorta Aneurysm
|
Thoracic Aortic Aneurysm Without Rupture
|
|
Thoracic Aneurysm
|
Thorax Arterial Aneurysm
|
|
Thoracic Artery Aneurysm
|
Thoracic Arterial Aneurysm
|
|
Thorax Aneurysm
|
Thorax Aortic Aneurysm
|
|
Dissection Of Thoracic Aorta
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
