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| Boli A-Z | | 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Aarskog-Scott Syndrome
Aceruloplasminemia
Achalasia-Addisonianism-Alacrima Syndrome
Adenosine Deaminase 2 Deficiency
Adrenoleukodystrophy
Adrenomyeloneuropathy
Adult T-Cell Leukemia
Aging
Alexander Disease
Allan-Herndon-Dudley Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
Alport Syndrome, X-Linked
Al-Raqad Syndrome
Alzheimer Disease 3
Amyloidosis
Amyotrophic Lateral Sclerosis 2, Juvenile
Anauxetic Dysplasia 1
Androgen Insensitivity Syndrome, Mild
Aneurysm
Angelman Syndrome
Angina Pectoris
Aniridia 1
Anismus
Anorexia Nervosa 1
Aortic Aneurysm
Aplasia Cutis Congenita
Arachnoid Cysts
Arachnoiditis
Argininemia
Arteriovenous Malformation
Arthritis
Arthrochalasia Ehlers-Danlos Syndrome
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect
Ataxia and Polyneuropathy, Adult-Onset
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus
Ataxia Neuropathy Spectrum
Ataxia-Oculomotor Apraxia 3
Athetosis
Aural Atresia, Congenital
Autism
Autism Spectrum Disorder
Autonomic Dysfunction
Autosomal Dominant Cerebellar Ataxia
Autosomal Recessive Cerebellar Ataxia
Axonal Neuropathy
Back Pain
B-Cell Expansion with Nfkb and T-Cell Anergy
Behr Syndrome
Beta-Thalassemia
Biotinidase Deficiency
Bleeding Disorder, Platelet-Type, 11
Blepharophimosis
Blepharospasm
Blood Group--Ahonen
Blood Group, Dombrock System
Blood Group, I System
Body Mass Index Quantitative Trait Locus 10
Body Mass Index Quantitative Trait Locus 11
Body Mass Index Quantitative Trait Locus 12
Body Mass Index Quantitative Trait Locus 14
Body Mass Index Quantitative Trait Locus 18
Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 9
Bone Mineral Density Quantitative Trait Locus 15
Bone Mineral Density Quantitative Trait Locus 8
Brachydactyly
Brain Injury
Brainstem Auditory Evoked Responses
Bronchopneumonia
Brucellosis
Burns
Carnosinemia
Cataract
Cataract 2, Multiple Types
Cerebellar Atrophy, Developmental Delay, and Seizures
Cerebellar Degeneration
Cerebellar Degeneration-Related Autoantigen 3
Cerebral Atrophy
Cerebral Palsy
Cerebral Visual Impairment
Cerebritis
Cerebrotendinous Xanthomatosis
Cervical Dystonia
Cervicitis
Charcot-Marie-Tooth Disease
Chorea, Childhood-Onset, with Psychomotor Retardation
Choreatic Disease
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction
Chromosome 18p Tetrasomy
Chronic Pain
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly
Cognitive Function 1, Social
Colorblindness, Partial, Deutan Series
Colorectal Cancer
Cone-Rod Dystrophy 2
Congenital Hepatic Fibrosis
Congenital Ichthyosiform Erythroderma
Conjunctivitis
Connective Tissue Disease
Constipation
Corneal Dystrophy
Corpus Callosum, Agenesis of
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia
Cortical Blindness
Corticobasal Degeneration
Creutzfeldt-Jakob Disease
Cutaneous Mastocytosis
Cutaneous T Cell Lymphoma
Cutis Laxa, Autosomal Recessive, Type Iiia
Cutis Verticis Gyrata
Cystathioninuria
Darier-White Disease
Dementia
Demyelinating Polyneuropathy
Dentatorubral-Pallidoluysian Atrophy
Dermatitis
Desmosterolosis
Developmental Coordination Disorder
Diabetes Insipidus
Diastrophic Dysplasia
Down Syndrome
Duodenal Ulcer
Duodenitis
Dysautonomia
Dyskinetic Cerebral Palsy
Dysphagia
Dysplasia Epiphysealis Hemimelica
Dystonia
Dystonia 9
Eales Disease
Early-Onset Familial Alzheimer Disease
Ectropion
Encephalopathy
Endotheliitis
Entropion
Epicanthus
Epilepsy
Epithelial Recurrent Erosion Dystrophy
Exostosis
Factor Vii Deficiency
Factor Xii Deficiency
Familial Spastic Paralysis
Fanconi Anemia, Complementation Group E
Fasciitis
Fetal Methylmercury Syndrome
Fibromuscular Dysplasia
Fibrous Histiocytoma
Fitzsimmons-Guilbert Syndrome
Fitzsimmons Syndrome
Focal Dystonia
Folliculitis
Foot Drop
Fragile X Syndrome
Gastric Cancer
Gastritis
Gastroesophageal Reflux
Glioma
Growth Hormone Deficiency
Headache
Headache Associated with Sexual Activity
Head Injury
Hemangioma
Hemifacial Spasm
Hemiplegia
Hemiplegic Migraine
Hemoglobinuria
Hepatic Adenomas, Familial
Hepatitis
Hepatitis B
Hepatitis C
Hepatitis C Virus
Hereditary Ataxia
Hereditary Multiple Exostoses
Hereditary Sensory Neuropathy
Hereditary Spastic Paraplegia
Hip Subluxation
Histiocytic Sarcoma
Histiocytoma
Histiocytosis
Holoprosencephaly
Homocarnosinosis
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity
Hsd10 Mitochondrial Disease
Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis
Human Immunodeficiency Virus Type 1
Human T-Cell Leukemia Virus Type 1
Human T-Cell Leukemia Virus Type 2
Huntington Disease
Hydrocephalus
Hyperekplexia
Hyperlysinemia, Type I
Hyperparathyroidism
Hyperreflexia
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertonia
Hypertrophic Cardiomyopathy
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hypomelanotic Disorder
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
Hypotonia
Hypoxia
Iatrogenic Botulism
Ichthyosis
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infective Dermatitis Associated with Htlv-1
Inherited Congenital Spastic Tetraplegia
Interstitial Keratitis
Ischemia
Jumping Frenchmen of Maine
Krabbe Disease
Langerhans Cell Histiocytosis
Lateral Sclerosis
Learning Disability
Leber Hereditary Optic Neuropathy
Leigh Syndrome
Leukemia
Leukodystrophy
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukomalacia
Lissencephaly 1
Lobar Holoprosencephaly
Locked-in Syndrome
Lubs X-Linked Mental Retardation Syndrome
Lupus Erythematosus
Lyme Disease
Lymphedema, Hereditary, Ii
Lymphoma
Machado-Joseph Disease
Macrocephaly/megalencephaly Syndrome, Autosomal Recessive
Major Affective Disorder 8
Major Affective Disorder 9
Maple Syrup Urine Disease
Masa Syndrome
Mast Syndrome
Mediastinitis
Megalencephaly
Megalencephaly with Dysmyelination
Metachromatic Leukodystrophy
Microcephaly
Microcephaly Microcornea Syndrome Seemanova Type
Microcytic Anemia
Microphthalmia
Midline Interhemispheric Variant of Holoprosencephaly
Mitochondrial Complex V Deficiency, Nuclear Type 1
Mitochondrial Disorders
Moderate and Severe Traumatic Brain Injury
Mohr-Tranebjaerg Syndrome
Monoclonal Mast Cell Activation Syndrome
Mood Disorder
Motor Neuron Disease
Mousa Al Din Al Nassar Syndrome
Muir-Torre Syndrome
Multiple Sclerosis
Multiple System Atrophy 1
Muscular Atrophy
Muscular Dystrophy
Myelitis
Myelocystocele
Myelofibrosis
Myelomeningocele
Myoclonus
Myopathy
Myopathy, Proximal, and Ophthalmoplegia
Myopia
Myositis
Natural Killer Cell Leukemia
Neonatal Lupus Erythematosus
Neuroaxonal Dystrophy
Neuroblastoma
Neurodegeneration with Brain Iron Accumulation 2a
Neuroendocrine Tumor
Neurofibromatosis, Type Iv, of Riccardi
Neurogenic Bladder
Neuromuscular Disease
Neuromyelitis Optica
Neuronal Ceroid Lipofuscinosis
Neuronitis
Neuropathy
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
Ocular Neuromyotonia
Oculodentodigital Dysplasia
Optic Nerve Hypoplasia, Bilateral
Osteoblastoma
Osteochondroma
Ovalocytosis, Southeast Asian
Paine Syndrome
Pancreatic Neuroendocrine Tumor
Pancreatitis
Pancreatitis, Hereditary
Paralytic Poliomyelitis
Paraplegia
Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome
Parkinsonism with Spasticity, X-Linked
Paroxysmal Choreoathetosis
Paroxysmal Nocturnal Hemoglobinuria
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher-Like Disease
Periventricular Leukomalacia
Peroneal Neuropathy
Phenylketonuria
Pigmented Villonodular Synovitis
Plantar Fasciitis
Pneumothorax, Primary Spontaneous
Poliomyelitis
Polymicrogyria
Polymyositis
Polyneuropathy
Pontocerebellar Hypoplasia, Type 2d
Postpartum Depression
Premature Menopause
Premature Ovarian Failure 7
Primary Cerebellar Degeneration
Primary Hyperparathyroidism
Prion Disease
Progressive Bulbar Palsy
Protein S Deficiency
Pseudopseudohypoparathyroidism
Psoriasis
Psoriasis 13
Ptosis
Purine Nucleoside Phosphorylase Deficiency
Quadriplegia
Quinquaud's Decalvans Folliculitis
Relapsing-Remitting Multiple Sclerosis
Renal Tubular Acidosis
Restless Legs Syndrome
Retinal Degeneration
Retinitis
Retinitis Pigmentosa
Rett Syndrome
Roussy-Levy Hereditary Areflexic Dystasia
Sandhoff Disease
Sarcoma
Schizencephaly
Scoliosis
Secondary Progressive Multiple Sclerosis
Seizures, Benign Familial Neonatal, 1
Senile Entropion
Sensorineural Hearing Loss
Serpin Peptidase Inhibitor, Clade a, Member 2, Pseudogene
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Sjogren-Larsson Syndrome
Sleep Apnea
Spasmodic Dysphonia
Spastic Ataxia
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic Cerebral Palsy
Spastic Diplegia
Spastic Diplegia and Mental Retardation
Spastic Diplegia Cerebral Palsy
Spastic Ectropion
Spastic Entropion
Spastic Hemiplegia
Spastic Monoplegia
Spastic Paraparesis
Spastic Paraparesis and Deafness
Spastic Paraplegia 11
Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 17
Spastic Paraplegia 17, Autosomal Dominant
Spastic Paraplegia 20, Autosomal Recessive
Spastic Paraplegia 23
Spastic Paraplegia 26
Spastic Paraplegia 26, Autosomal Recessive
Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 2, X-Linked
Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 34, X-Linked
Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 3a
Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraplegia 4
Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 8
Spastic Paraplegia 9
Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Spastic Pseudosclerosis
Spastic Quadriplegia
Spinal Arachnoiditis
Spinal Cord Disease
Spinal Cord Injury
Spinal Muscular Atrophy
Spinal Shock
Spinocerebellar Ataxia 31
Spinocerebellar Degeneration
Splenic Marginal Zone Lymphoma
Spondyloenchondrodysplasia
Spondylosis
Sporadic Hyperekplexia
Stiff-Person Syndrome
Stroke, Ischemic
Strongyloidiasis
Suprabulbar Paresis, Congenital
Synostoses, Tarsal, Carpal, and Digital
Synovitis
Syphilis
Syringohydromyelia
Syringomyelia
Systemic Lupus Erythematosus
Talipes Equinovarus
Tarsal-Carpal Coalition Syndrome
Tarsal Coalition
T-Cell Leukemia
Telangiectasis
Temporal Lobe Epilepsy
Tetanus
Tetrasomy 18p
Thalassemia
Thrombocytopenia 1
Thumb Deformity
Thyroiditis
Tooth Disease
Transverse Myelitis
Traumatic Brain Injury
Tremor
Trichothiodystrophy 4, Nonphotosensitive
Tropical Spastic Paraparesis
Vasculitis
Vein of Galen Aneurysm
Villonodular Synovitis
Vitamin B12 Deficiency
Wells-Jankovic Syndrome
West Syndrome
Xanthomatosis
X-Linked Complicated Spastic Paraplegia Type 1
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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