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Boli A-Z 11p15.4 Microduplication Syndrome 11q22.2q22.3 Microdeletion Syndrome 12q14 Microdeletion Syndrome 13q12.3 Microdeletion Syndrome 14q24.1q24.3 Microdeletion Syndrome 16p12.1p12.3 Triplication Syndrome 1p21.3 Microdeletion Syndrome 20p13 Microdeletion Syndrome 20q11.2 Microdeletion Syndrome 20q11.2 Microduplication Syndrome 2,4-Dienoyl-Coa Reductase Deficiency 2-Hydroxyglutaric Aciduria 2-Methylbutyryl-Coa Dehydrogenase Deficiency 2q23.1 Microduplication Syndrome 2q37 Deletion Syndrome 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type Iv 3-Methylglutaconic Aciduria, Type Ix 3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3p25.3 Microdeletion Syndrome 3q27.3 Microdeletion Syndrome 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 48,xxxy Syndrome 48,xxyy Syndrome 48,xyyy 49,xxxxy Syndrome 5q14.3 Microdeletion Syndrome 5q31.3 Microdeletion Syndrome 6q16 Deletion Syndrome 7p22.1 Microduplication Syndrome 9p13 Microdeletion Syndrome 9q31.1q31.3 Microdeletion Syndrome 9q33.3q34.11 Microdeletion Syndrome Aarskog-Scott Syndrome Aase-Smith Syndrome I Abcd Syndrome Abducens Nerve Disease Abducens Nerve Neoplasm Abetalipoproteinemia Abidi X-Linked Mental Retardation Syndrome Abnormal Retinal Correspondence Absent Eyebrows and Eyelashes with Mental Retardation Accessory Nerve Disease Accommodative Esotropia Aceruloplasminemia Achalasia-Addisonianism-Alacrima Syndrome Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans Acoustic Neuroma Acquired Aneurysmal Subarachnoid Hemorrhage Acquired Central Diabetes Insipidus Acquired Cutis Laxa Acquired Generalized Lipodystrophy Acquired Porencephaly Acquired Pseudoxanthoma Elasticum Acquired Schizencephaly Acrocallosal Syndrome Acrocephalopolydactylous Dysplasia Acrofacial Dysostosis, Catania Type Acrofacial Dysostosis Syndrome of Rodriguez Acute Disseminated Encephalomyelitis Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion Acute Hemorrhagic Encephalitis Acute Hemorrhagic Leukoencephalitis Acute Macular Neuroretinopathy Acute Motor and Sensory Axonal Neuropathy Acute Motor Axonal Neuropathy Acute Necrotizing Encephalitis Acute Necrotizing Encephalopathy Acute Necrotizing Encephalopathy Type 1 Acute Pandysautonomia Acute Pure Sensory Neuropathy Acute Retrobulbar Neuritis Acute Sensory Ataxic Neuropathy Acute Transverse Myelitis Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of Adenosine Monophosphate Deaminase 1 Deficiency Adenylosuccinase Deficiency Adiposis Dolorosa Adnp Syndrome Adolescence-Adult Electroclinical Syndrome Adrenal Neuroblastoma Adrenoleukodystrophy Adult Brain Ependymoma Adult Brainstem Astrocytoma Adult Brain Stem Glioma Adult Brainstem Gliosarcoma Adult Brainstem Mixed Glioma Adult Central Nervous System Choriocarcinoma Adult Central Nervous System Embryonal Carcinoma Adult Central Nervous System Germinoma Adult Central Nervous System Immature Teratoma Adult Central Nervous System Mature Teratoma Adult Central Nervous System Mixed Germ Cell Tumor Adult Central Nervous System Primitive Neuroectodermal Neoplasm Adult Central Nervous System Teratoma Adult Cerebellar Neoplasm Adult Choroid Plexus Cancer Adult Dermatomyositis Adult Ependymoblastoma Adult Intestinal Botulism Adult Krabbe Disease Adult Leptomeningeal Melanoma Adult Lymphoma Adult Malignant Schwannoma Adult Medulloblastoma Adult Neuronal Ceroid Lipofuscinosis Adult Oligodendroglioma Adult-Onset Distal Myopathy Due to Vcp Mutation Adult-Onset Myasthenia Gravis Adult-Onset Nemaline Myopathy Adult Papillary Meningioma Adult Pineoblastoma Adult Polyglucosan Body Disease Adult Spinal Cord Ependymoma Adult Spinal Cord Glioblastoma Multiforme Advanced Sleep Phase Syndrome Advanced Sleep Phase Syndrome 2 Advanced Sleep Phase Syndrome, Familial, 1 Advanced Sleep Phase Syndrome, Familial, 2 Advanced Sleep Phase Syndrome, Familial, 3 Agammaglobulinemia, Microcephaly, and Severe Dermatitis Agenesis of the Corpus Callosum with Peripheral Neuropathy Agnathia-Otocephaly Complex Ah Amyloidosis Aicardi-Goutieres Syndrome Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 2 Aicardi-Goutieres Syndrome 3 Aicardi-Goutieres Syndrome 4 Aicardi-Goutieres Syndrome 5 Aicardi-Goutieres Syndrome 6 Aicardi-Goutieres Syndrome 7 Aicardi Syndrome Aicar Transformylase/imp Cyclohydrolase Deficiency Aids - Neurological Complications Akesson Syndrome Akinetic Mutism Alacrima, Achalasia, and Mental Retardation Syndrome Al Amyloidosis Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Alazami Syndrome Alcoholic Neuropathy Alcohol-Induced Mental Disorder Alcohol-Related Neurodevelopmental Disorder Aldred Syndrome Alexander Disease Al Gazali Aziz Salem Syndrome Algoneurodystrophy Alk-Related Neuroblastic Tumor Susceptibility Alobar Holoprosencephaly Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome Alopecia-Contractures-Dwarfism Mental Retardation Syndrome Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia-Intellectual Disability Syndrome Alopecia Intellectual Disability Syndrome 2 Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality Alpha-Ketoglutarate Dehydrogenase Deficiency Alpha-Mannosidosis, Adult Form Alpha-Mannosidosis, Infantile Form Alpha Thalassemia-Intellectual Disability Syndrome Type 1 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome, X-Linked Alpha Thalassemia-X-Linked Intellectual Disability Syndrome Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Alternating Esotropia Alternating Exotropia Alternating Hemiplegia of Childhood Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2 Alzheimer Disease Alzheimer Disease 10 Alzheimer Disease 11 Alzheimer Disease 12 Alzheimer Disease 13 Alzheimer Disease 14 Alzheimer Disease 15 Alzheimer Disease 16 Alzheimer Disease 17 Alzheimer Disease 18 Alzheimer Disease 19 Alzheimer Disease 2 Alzheimer Disease 3 Alzheimer Disease 4 Alzheimer Disease 5 Alzheimer Disease 6 Alzheimer Disease 7 Alzheimer Disease 8 Alzheimer Disease 9 Alzheimer Disease Neuronal Thread Protein Alzheimer Disease Type 1 Alzheimer Disease Without Neurofibrillary Tangles Amaurosis Fugax Aminoacylase 1 Deficiency Aminopterin Syndrome Sine Aminopterin Amme Complex Ampulla of Vater Small Cell Carcinoma Amyloid Neuropathy Amyloidosis Amyloidosis Aa Amyloidosis, Familial Visceral Amyloidosis, Finnish Type Amyloidosis, Hereditary, Transthyretin-Related Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18 Amyotrophic Lateral Sclerosis 19 Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis, Juvenile, with Dementia Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22 Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Neuralgia Amyotrophy, Hereditary Neuralgic Amyotrophy, Monomelic Anaerobic Meningitis Anal Neuroendocrine Tumor Anaplastic Ependymoma Anaplastic Ganglioglioma Anaplastic/large Cell Medulloblastoma Anaplastic Oligoastrocytoma Anaplastic Oligodendroglioma Andersen Cardiodysrhythmic Periodic Paralysis Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome Anemia, Sideroblastic, and Spinocerebellar Ataxia Anencephaly Angelman Syndrome Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 Angelman Syndrome Due to Maternal 15q11q13 Deletion Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angiocentric Glioma Angioma, Hereditary Neurocutaneous Angiomatous Meningioma Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps Aniridia-Intellectual Disability Syndrome Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation Aniridia - Ptosis - Intellectual Disability - Familial Obesity Anismus Anorexia Nervosa 1 Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita Anterior Cranial Fossa Meningioma Anterior Cutaneous Nerve Entrapment Syndrome Anterior Foramen Magnum Meningioma Anterior Horn Cell Disease Anterior Optic Tract Meningioma Antisynthetase Syndrome Anxiety Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy Apnea, Obstructive Sleep Aprosencephaly and Cerebellar Dysgenesis Aprosencephaly Syndrome Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome Arachnoid Cysts Arachnoiditis Armfield X-Linked Mental Retardation Syndrome Arnold Stickler Bourne Syndrome Aromatic L-Amino Acid Decarboxylase Deficiency Arteriovenous Malformations of the Brain Arteritic Anterior Ischemic Optic Neuropathy Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay Arthrogryposis Epileptic Seizures Migrational Brain Disorder Arthrogryposis, Mental Retardation, and Seizures Arthrogryposis Multiplex Congenita, Neurogenic Type Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Arthrogryposis Multiplex Congenita Whistling Face Arts Syndrome Aseptic Meningitis Asparagine Synthetase Deficiency Aspartylglucosaminuria Astroblastoma Astrocytoma Asymmetric Motor Neuropathy Asymptomatic Neurosyphilis Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Deafness-Retardation Syndrome Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia Ataxia Neuropathy Spectrum Ataxia-Oculomotor Apraxia 3 Ataxia-Oculomotor Apraxia 4 Ataxia-Pancytopenia Syndrome Ataxia-Photosensitivity-Short Stature Syndrome Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation Ataxia-Telangiectasia Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2 Atelosteogenesis Atelosteogenesis, Type I Atelosteogenesis, Type Ii Atelosteogenesis, Type Iii Athabaskan Brainstem Dysgenesis Syndrome Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease Atkin-Flaitz Syndrome Atp1a3-Related Neurologic Disorders Atp6v0a2-Related Cutis Laxa Atrophic Muscular Disease Attenuated Chédiak-Higashi Syndrome Atypical Autism Atypical Choroid Plexus Papilloma Atypical Juvenile Parkinsonism Atypical Neurofibroma Atypical Pantothenate Kinase-Associated Neurodegeneration Atypical Teratoid Rhabdoid Tumor Audiogenic Seizures Auditory Neuropathy and Optic Atrophy Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy Spectrum Disorder Auditory System Cancer Au-Kline Syndrome Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Auricular Cancer Autism-Facial Port-Wine Stain Syndrome Autism X-Linked 1 Autism X-Linked 2 Autism X-Linked 3 Autism X-Linked 4 Autism X-Linked 5 Autism X-Linked 6 Autoimmune Autonomic Ganglionopathy Autoimmune Disease, Multisystem, with Facial Dysmorphism Autoimmune Disease of Central Nervous System Autoimmune Encephalitis Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome Autoimmune Neuropathy Autoimmune-Related Retinopathy and Optic Neuropathy Autonomic Dysfunction Autonomic Nervous System Disease Autonomic Nervous System Neoplasm Autonomic Neuropathy Autonomic Peripheral Neuropathy Autosomal Dominant Café Au Lait Spots Autosomal Dominant Cerebellar Ataxia Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Autosomal Dominant Complex Spastic Paraplegia Type 9b Autosomal Dominant Deafness-Onychodystrophy Syndrome Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome Autosomal Dominant Epilepsy with Auditory Features Autosomal Dominant Intellectual Disability 30 Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 Autosomal Dominant Nonsyndromic Deafness Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna Autosomal Dominant Optic Atrophy and Peripheral Neuropathy Autosomal Dominant Optic Atrophy Plus Syndrome Autosomal Dominant Progressive External Ophthalmoplegia Autosomal Recessive Ataxia Due to Pex10 Deficiency Autosomal Recessive Cerebellar Ataxia Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity Autosomal Recessive Cerebral Atrophy Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Early-Onset Parksinson Disease 23 Autosomal Recessive Intellectual Disability 58 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Malignant Osteopetrosis Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb Autosomal Recessive Primary Microcephaly Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71 Axonal Neuropathy Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy Ayme-Gripp Syndrome Bacterial Meningitis Bacterial Myositis Bainbridge-Ropers Syndrome Balint Syndrome Balo Concentric Sclerosis Band Heterotopia Bannayan-Riley-Ruvalcaba Syndrome Baraitser-Winter Syndrome Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2 Baroreflex Failure Barth Syndrome Basal Cell Nevus Syndrome Basal Encephalocele Basal Ganglia Calcification Basal Ganglia Calcification, Idiopathic, 1 Basal Ganglia Calcification, Idiopathic, 2 Basal Ganglia Calcification, Idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 5 Basal Ganglia Calcification, Idiopathic, 6 Basal Ganglia Cerebrovascular Disease Basal Ganglia Disease Basel-Vanagaite-Smirin-Yosef Syndrome Basilar Impression, Primary Battaglia-Neri Syndrome Beaulieu-Boycott-Innes Syndrome Behavioral Variant of Frontotemporal Dementia Behcet Syndrome Behr Syndrome Bell's Palsy Benign Adult Familial Myoclonic Epilepsy Benign Angiitis of the Central Nervous System Benign Childhood Occipital Epilepsy, Gastaut Type Benign Childhood Occipital Epilepsy, Panayiotopoulos Type Benign Ependymoma Benign Epilepsy with Centrotemporal Spikes Benign Familial Infantile Epilepsy Benign Familial Mesial Temporal Lobe Epilepsy Benign Familial Neonatal Epilepsy Benign Focal Seizures of Adolescence Benign Idiopathic Neonatal Seizures Benign Infantile Focal Epilepsy with Midline Spikes and Wave During Sleep Benign Infantile Seizures Associated with Mild Gastroenteritis Benign Meningioma Benign Neonatal Seizures Benign Nocturnal Alternating Hemiplegia of Childhood Benign Paroxysmal Torticollis of Infancy Benign Partial Epilepsy of Infancy with Complex Partial Seizures Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy Benign Samaritan Congenital Myopathy Benign Shuddering Attacks Beta-Ureidopropionase Deficiency Bethlem Myopathy 1 Bethlem Myopathy 2 Bickerstaff Brainstem Encephalitis Biemond Syndrome Biemond Syndrome Ii Biemond Syndrome Type 1 Bilateral Frontal Polymicrogyria Bilateral Generalized Polymicrogyria Bilateral Meningioma of Optic Nerve Bilateral Polymicrogyria Bilateral Retinoblastoma Bile Acid Synthesis Defect, Congenital, 4 Bilirubin Induced Brain Injury in the Newborn Binocular Vision Disease Biotinidase Deficiency Birk-Barel Mental Retardation Dysmorphism Syndrome Bjornstad Syndrome Blake Pouch Cyst Blau Syndrome Blepharonasofacial Malformation Syndrome Blepharophimosis Intellectual Disability Syndromes Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Blepharospasm Blepharospasm, Benign Essential Bohring-Opitz Syndrome Bone Ewing's Sarcoma Bone Peripheral Neuroepithelioma Borjeson-Forssman-Lehmann Syndrome Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Boucher-Neuhauser Syndrome Boudhina Yedes Khiari Syndrome Bowen-Conradi Syndrome Boylan Dew Greco Syndrome Brachial Plexus Lesion Brachial Plexus Neuritis Brachial Plexus Neuropathy Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation Brain and Spinal Tumors Brain Angioma Brain Cancer Brain Compression Brain Dopamine-Serotonin Vesicular Transport Disease Brain Edema Brain Ependymoma Brain Germinoma Brain Glioblastoma Multiforme Brain Glioma Brain Injury Brain Ischemia Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome Brain Malformation-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome Brain Malformations with or Without Urinary Tract Defects Brain Meningioma Brain Oligodendroglioma Brain Sarcoma Brain Small Vessel Disease with or Without Ocular Anomalies Brain Stem Angioblastoma Brain Stem Astrocytic Neoplasm Brainstem Auditory Evoked Responses Brain Stem Cancer Brain Stem Ependymoma Brain Stem Glioma Brain Stem Infarction Brainstem Intraparenchymal Clear Cell Meningioma Brain Stem Medulloblastoma Brain Tumor, Childhood Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency Branchial Arch Syndrome, X-Linked Breast Large Cell Neuroendocrine Carcinoma Breast Neuroendocrine Neoplasm Brody Myopathy Brooks-Wisniewski-Brown Syndrome Brown's Tendon Sheath Syndrome Brown-Sequard Syndrome Bscl2-Related Neurologic Disorders/seipinopathy Bulimia Nervosa 1 Bulimia Nervosa 2 Bullous Dystrophy, Hereditary Macular Type Burning Mouth Syndrome Burning Mouth Syndrome Type 3 Cafe-Au-Lait Spots, Multiple Cahmr Syndrome Camera-Marugo-Cohen Syndrome Camptocormism Camptodactyly Syndrome, Guadalajara, Type I Camptodactyly Syndrome, Guadalajara, Type Ii Camptodactyly Syndrome, Guadalajara, Type Iii Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases Canavan Disease Cancer-Associated Retinopathy Canomad Syndrome Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Cantu Sanchez-Corona Hernandez Syndrome Cap Myopathy Carbon Monoxide-Induced Parkinsonism Cardiocranial Syndrome Cardiofaciocutaneous Syndrome 1 Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3 Cardiofaciocutaneous Syndrome 4 Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1dd Cardiomyopathy, Dilated, 1e Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 1g Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1jj Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m Cardiomyopathy, Dilated, 1nn Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 3b Cardiomyopathy Due to Anthracyclines Carnitine Deficiency, Systemic Primary Carnitine Palmitoyltransferase Ii Deficiency, Infantile Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced Carotid Artery Disease Carpal Tunnel Syndrome Cartwright Nelson Fryns Syndrome Cataract Cataract 10, Multiple Types Cataract 11, Multiple Types Cataract 12, Multiple Types Cataract 14, Multiple Types Cataract 15, Multiple Types Cataract 16, Multiple Types Cataract 17, Multiple Types Cataract 18 Cataract 19, Multiple Types Cataract 1, Multiple Types Cataract 20, Multiple Types Cataract 21, Multiple Types Cataract 22, Multiple Types Cataract 23, Multiple Types Cataract 24 Cataract 25 Cataract 26, Multiple Types Cataract 27 Cataract 28 Cataract 29 Cataract 2, Multiple Types Cataract 30 Cataract 30, Multiple Types Cataract 31, Multiple Types Cataract 32, Multiple Types Cataract 33 Cataract 33, Multiple Types Cataract 34, Multiple Types Cataract 35 Cataract 36 Cataract 37 Cataract 38 Cataract 39, Multiple Types Cataract 3, Multiple Types Cataract 40 Cataract 41 Cataract 42 Cataract 43 Cataract 44 Cataract 45 Cataract 46, Juvenile-Onset Cataract 47 Cataract 4, Multiple Types Cataract 5, Multiple Types Cataract 6, Multiple Types Cataract 7 Cataract 8, Multiple Types Cataract 9, Multiple Types Cataract-Ataxia-Deafness-Retardation Syndrome Cataract, Ataxia, Short Stature, and Mental Retardation Cataract Congenital Autosomal Dominant Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy Cataract-Deafness-Hypogonadism Syndrome Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Cataract, Total Congenital Catel-Manzke Syndrome Cat Eye Syndrome Cauda Equina Intradural Extramedullary Astrocytoma Cauda Equina Neoplasm Cauda Equina Syndrome Caudal Appendage Deafness Caudal Duplication Anomaly Causalgia Cavernous Sinus Meningioma Cellular Neurofibroma Central Bilateral Macrogyria Central Core Disease of Muscle Central Hypoventilation Syndrome, Congenital Central Nervous System Adult Germ Cell Tumor Central Nervous System Angiosarcoma Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome Central Nervous System Childhood Germ Cell Tumor Central Nervous System Chondroma Central Nervous System Disease Central Nervous System Embryonal Carcinoma Central Nervous System Endodermal Sinus Tumor Central Nervous System Fibrosarcoma Central Nervous System Germ Cell Tumor Central Nervous System Germinoma Central Nervous System Hemangioma Central Nervous System Hematologic Cancer Central Nervous System Immature Teratoma Central Nervous System Leiomyoma Central Nervous System Leiomyosarcoma Central Nervous System Leukemia Central Nervous System Lymphoma Central Nervous System Mature Teratoma Central Nervous System Melanocytic Neoplasm Central Nervous System Mesenchymal Non-Meningothelial Tumor Central Nervous System Organ Benign Neoplasm Central Nervous System Origin Vertigo Central Nervous System Osteosarcoma Central Nervous System Primitive Neuroectodermal Neoplasm Central Nervous System Rhabdomyosarcoma Central Nervous System Sarcoma Central Nervous System Teratoma Central Nervous System Tuberculosis Central Nervous System Vasculitis Central Neurocytoma Central Pontine Myelinolysis Centronuclear Myopathy Cerebellar Angioblastoma Cerebellar Astrocytoma Cerebellar Ataxia and Neurosensory Deafness Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Cerebellar Ataxia, Cayman Type Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome Cerebellar Ataxia, Nonprogressive, with Mental Retardation Cerebellar Atrophy, Developmental Delay, and Seizures Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Degeneration Cerebellar Disease Cerebellar Hypoplasia Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar Liponeurocytoma Cerebellar Medulloblastoma Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Cerebellar Vermis Medulloblastoma Cerebellofaciodental Syndrome Cerebellopontine Angle Meningioma Cerebellopontine Angle Primitive Neuroectodermal Cerebellopontine Angle Tumor Cerebellum Cancer Cerebral Amyloid Angiopathy, App-Related Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy Cerebral Atrophy Cerebral Cavernous Malformation, Familial Cerebral Cavernous Malformations Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked Cerebral Convexity Meningioma Cerebral Creatine Deficiency Syndrome 1 Cerebral Creatine Deficiency Syndrome 2 Cerebral Creatine Deficiency Syndrome 3 Cerebral Degeneration Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome Cerebral Falx Meningioma Cerebral Folate Deficiency Cerebral Gigantism Jaw Cysts Cerebral Hemisphere Lipoma Cerebral Hypoxia Cerebral Lipidosis Cerebral Lymphoma Cerebral Meningioma Cerebral Neuroblastoma Cerebral Palsy Cerebral Palsy, Ataxic, Autosomal Recessive Cerebral Primitive Neuroectodermal Tumor Cerebral Sinovenous Thrombosis Cerebral Ventricle Cancer Cerebral Visual Impairment Cerebritis Cerebrofacial Arteriovenous Metameric Syndrome Type 1 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 Cerebrooculonasal Syndrome Cerebroretinal Microangiopathy with Calcifications and Cysts 1 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 Cerebrospinal Fluid Leak Cerebrotendinous Xanthomatosis Cerebrum Cancer Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 10 Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 13 Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 3 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 5 Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Storage Disease Cervical Dystonia Cervical Hypertrichosis Peripheral Neuropathy Cervical Large Cell Neuroendocrine Carcinoma Cervical Neuroblastoma Cervical Spina Bifida Aperta Cervical Spina Bifida Cystica Cervical Spinal Canal and Spinal Cord Meningioma Cervicomedullary Junction Neoplasm Cervicothoracic Spina Bifida Aperta Cervicothoracic Spina Bifida Cystica Chagas Disease Chanarin-Dorfman Syndrome Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease and Deafness Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b Charcot-Marie-Tooth Disease, Axonal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2e Charcot-Marie-Tooth Disease, Axonal, Type 2f Charcot-Marie-Tooth Disease, Axonal, Type 2h Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2t Charcot-Marie-Tooth Disease, Axonal, Type 2u Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1c Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate D Charcot-Marie-Tooth Disease, Dominant Intermediate E Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5 Chd2 Myoclonic Encephalopathy Chd2-Related Neurodevelopmental Disorders Chediak-Higashi Syndrome Chiari Malformation Chiari Malformation Type 3 Chiari Malformation Type 4 Chiari Malformation Type I Chiari Malformation Type Ii Chiasmal Syndrome Chilblain Lupus 1 Chilblain Lupus 2 Childhood Absence Epilepsy Childhood Apraxia of Speech Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter Childhood Brain Germinoma Childhood Brain Meningioma Childhood Brainstem Astrocytoma Childhood Brain Stem Glioma Childhood Central Nervous System Germinoma Childhood Central Nervous System Immature Teratoma Childhood Central Nervous System Mature Teratoma Childhood Central Nervous System Mixed Germ Cell Tumor Childhood Central Nervous System Primitive Neuroectodermal Neoplasm Childhood Cerebellar Astrocytic Neoplasm Childhood Cerebellar Neoplasm Childhood Cerebral Astrocytoma Childhood Choroid Plexus Cancer Childhood Disintegrative Disease Childhood Electroclinical Syndrome Childhood Germ Cell Brain Tumor Childhood Infratentorial Neoplasm Childhood Malignant Schwannoma Childhood Mediastinal Neurogenic Tumor Childhood Medulloblastoma Childhood-Onset Nemaline Myopathy Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome Childhood Optic Nerve Glioma Childhood Optic Tract Astrocytoma Childhood Spinal Cord Tumor Childhood Type Dermatomyositis Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia Chops Syndrome Chordoid Glioma Chordoid Meningioma Chorea, Benign Familial Chorea, Benign Hereditary Chorea Gravidarum Choreatic Disease Choreoacanthocytosis Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction Choriocarcinoma of the Central Nervous System Chorioretinopathy Dominant Form Microcephaly Choroid Epithelioid Cell Melanoma Choroideremia, Deafness, and Mental Retardation Choroid Mixed Cell Melanoma Choroid Necrotic Melanoma Choroid Plexus Calcification and Mental Retardation Choroid Plexus Cancer Choroid Plexus Meningioma Choroid Spindle Cell Melanoma Christianson Syndrome Chromosome 15q13.3 Deletion Syndrome Chromosome 16p11.2 Duplication Syndrome Chromosome 16p13.3 Deletion Syndrome, Proximal Chromosome 17p13.1 Deletion Syndrome Chromosome 17p13.3, Centromeric, Duplication Syndrome Chromosome 17q11.2 Deletion Syndrome Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Chromosome 17q21.31 Duplication Syndrome Chromosome 19p13.13 Deletion Syndrome Chromosome 19q13.11 Deletion Syndrome, Distal Chromosome 1p36 Deletion Syndrome Chromosome 2q37 Deletion Syndrome Chromosome 3pter-P25 Deletion Syndrome Chromosome 5q12 Deletion Syndrome Chromosome 6pter-P24 Deletion Syndrome Chromosome 8q21.11 Deletion Syndrome Chromosome Xp11.22 Duplication Syndrome Chromosome Xp11.23-P11.22 Duplication Syndrome Chromosome Xp11.3 Deletion Syndrome Chronic Demyelinizing Neuropathy with Igm Monoclonal Chronic Fatigue Syndrome Chronic Hiccups Chronic Inflammatory Demyelinating Polyneuritis Chronic Inflammatory Demyelinating Polyneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids Chronic Meningitis Chronic Metabolic Polyneuropathy Chronic Orthostatic Intolerance Chronic Polyneuropathy Chronic Progressive External Ophthalmoplegia Chronic Relapsing Inflammatory Optic Neuropathy Chronic Toxic Polyneuropathy Chronic Wasting Disease Chudley-Mccullough Syndrome Chudley Rozdilsky Syndrome Ciliary Body Cancer Ciliary Body Epithelioid Cell Melanoma Ciliary Body Mixed Cell Melanoma Ciliary Body Spindle Cell Melanoma Cinca Syndrome Ck Syndrome Clark-Baraitser Syndrome Classic Neuroendocrine Tumor of Appendix Classic Paraneoplastic Limbic Encephalitis Classic Phenylketonuria Classic Progressive Supranuclear Palsy Syndrome Clcn4-Related X-Linked Intellectual Disability Syndrome Clear Cell Meningioma Cleft Lip/palate-Ectodermal Dysplasia Syndrome Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly Cleft Palate, Cardiac Defects, and Mental Retardation Cleft Palate, Isolated Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features Cleft Palate Short Stature Vertebral Anomalies Clivus Meningioma Cln4 Disease Closed Iniencephaly Clpb Deficiency Cluster Headache Cluster Headache, Familial Coach Syndrome Coasy Protein-Associated Neurodegeneration Coats Disease Cobb Syndrome Cockayne Syndrome Cockayne Syndrome a Cockayne Syndrome B Cockayne Syndrome Type I Cockayne Syndrome Type Ii Cockayne Syndrome Type Iii Coenzyme Q10 Deficiency, Primary, 2 Coenzyme Q10 Deficiency, Primary, 4 Coenzyme Q10 Deficiency, Primary, 5 Coenzyme Q10 Deficiency, Primary, 6 Coenzyme Q10 Deficiency, Primary, 7 Coffin-Lowry Syndrome Coffin-Siris Syndrome 1 Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3 Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6 Cognitive Impairment with or Without Cerebellar Ataxia Cohen Syndrome Col4a1-Related Brain Small-Vessel Disease Cold-Induced Sweating Syndrome Cold-Induced Sweating Syndrome 1 Cold-Induced Sweating Syndrome 2 Cold-Induced Sweating Syndrome 3 Colloid Cysts of Third Ventricle Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation Coloboma of Optic Nerve Colobomatous Microphthalmia Colon Neuroendocrine Neoplasm Colon Small Cell Carcinoma Colorado Tick Fever Combat Disorder Combined D-2- and L-2-Hydroxyglutaric Aciduria Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves Combined Oxidative Phosphorylation Deficiency 11 Combined Oxidative Phosphorylation Deficiency 12 Combined Oxidative Phosphorylation Deficiency 18 Combined Oxidative Phosphorylation Deficiency 20 Combined Oxidative Phosphorylation Deficiency 21 Combined Oxidative Phosphorylation Deficiency 23 Combined Oxidative Phosphorylation Deficiency 25 Combined Oxidative Phosphorylation Deficiency 27 Combined Oxidative Phosphorylation Deficiency 30 Combined Oxidative Phosphorylation Deficiency 31 Combined Oxidative Phosphorylation Deficiency 6 Combined Oxidative Phosphorylation Deficiency 7 Combined Saposin Deficiency Common Peroneal Nerve Lesion Communicating Hydrocephalus Complex Cortical Dysplasia with Other Brain Malformations Complex Partial Epilepsy Complex Regional Pain Syndrome Cone-Rod Dystrophy 2 Congenital Abducens Nerve Palsy Congenital Achiasma Congenital Benign Spinal Muscular Atrophy Dominant Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital Cataracts, Hearing Loss, and Neurodegeneration Congenital Cervical Spinal Stenosis Congenital Communicating Hydrocephalus Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Ib Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iy Congenital Fiber-Type Disproportion Congenital Generalized Hypercontractile Muscle Stiffness Syndrome Congenital Generalized Lipodystrophy Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome Congenital Hypomyelination Neuropathy Congenital Insensitivity to Pain with Hyperhidrosis Congenital Insensitivity to Pain with Severe Intellectual Disability Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome Congenital Laryngeal Palsy Congenital Lymphedema Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a Congenital Muscular Dystrophy with Cerebellar Involvement Congenital Muscular Dystrophy with Hyperlaxity Congenital Muscular Dystrophy with Intellectual Disability Congenital Muscular Dystrophy Without Intellectual Disability Congenital Myasthenic Syndrome Congenital Myasthenic Syndromes with Glycosylation Defect Congenital Myopathy, Paradas Type Congenital Myopathy with Myasthenic-Like Onset Congenital Nervous System Abnormality Congenital Non-Communicating Hydrocephalus Congenital Nystagmus Congenital Oculomotor Nerve Palsy Congenital Retinal Arteriovenous Communication Congenital Rubella Congenital Sialidosis Type 2 Congenital Syphilis Congenital Toxoplasmosis Congenital Trochlear Nerve Palsy Conjugate Gaze Palsy Conjunctival Cancer Conjunctival Squamous Cell Carcinoma Cono-Spondylar Dysplasia Contractures, Congenital, Torticollis, and Malignant Hyperthermia Conus Medullaris Neoplasm Conversion Disorder Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis Coproporphyria, Hereditary Cornea Cancer Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation Corneal Dystrophy, Lattice Type I Corneal Dystrophy, Lattice Type Iiia Corneal Hypesthesia, Familial Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Cornea Squamous Cell Carcinoma Cornelia De Lange Syndrome Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2 Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 4 Cornelia De Lange Syndrome 5 Corpus Callosum Agenesis Double Urinary Collecting Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome Corpus Callosum, Agenesis of, with Abnormal Genitalia Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Corpus Callosum Lipoma Corpus Callosum Oligodendroglioma Corpus Callosum, Partial Agenesis of, X-Linked Cortical Blindness, Retardation, and Postaxial Polydactyly Cortical Dysplasia, Complex, with Other Brain Malformations 1 Cortical Dysplasia, Complex, with Other Brain Malformations 2 Cortical Dysplasia, Complex, with Other Brain Malformations 3 Cortical Dysplasia, Complex, with Other Brain Malformations 4 Cortical Dysplasia, Complex, with Other Brain Malformations 5 Cortical Dysplasia, Complex, with Other Brain Malformations 6 Cortical Dysplasia, Complex, with Other Brain Malformations 7 Cortical Dysplasia, Complex, with Other Brain Malformations 8 Cortical Malformations, Occipital Corticobasal Degeneration Costello Syndrome Cowchock Syndrome Cowden Disease Cowden Syndrome 1 Cowden Syndrome 2 Cowden Syndrome 3 Cowden Syndrome 4 Cowden Syndrome 5 Cowden Syndrome 6 Cowden Syndrome 7 C-P Angle Neurinoma Crane-Heise Syndrome Cranial Meningocele Cranial Nerve Disease Cranial Nerve Iii Tumor Cranial Nerve Malignant Neoplasm Cranial Nerve Palsy Cranial Nerves, Congenital Paresis of Cranial Nerves, Recurrent Paresis of Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Cranio-Facial Dystonia Craniofacioskeletal Syndrome Craniofrontonasal Syndrome Craniopharyngioma Craniorachischisis Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis Craniosynostosis Alopecia Brain Defect Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome Craniosynostosis-Mental Retardation-Clefting Syndrome Craniosynostosis Mental Retardation Heart Defects Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Craniotelencephalic Dysplasia Creatine Kinase, Brain Type, Ectopic Expression of Cree Mental Retardation Syndrome Creutzfeldt-Jakob Disease Critical Illness Polyneuropathy Crome Syndrome Cryoglobulinemia, Familial Mixed Cryptococcal Meningitis Cryptogenic Late-Onset Epileptic Spasms Cubitus Valgus with Mental Retardation and Unusual Facies Curry-Jones Syndrome Cutaneous Polyarteritis Nodosa Cutis Laxa Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Dominant 3 Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive, Type Ia Cutis Laxa, Autosomal Recessive, Type Ib Cutis Laxa, Autosomal Recessive, Type Ic Cutis Laxa, Autosomal Recessive, Type Iia Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Verticis Gyrata and Mental Retardation Cutis Verticis Gyrata Mental Deficiency Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation Cyanide-Induced Parkinsonism Cyclotropia Cylindrical Spirals Myopathy Cyprus Facial Neuromusculoskeletal Syndrome Cysticercosis Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation D-2-Hydroxyglutaric Aciduria 1 D-2-Hydroxyglutaric Aciduria 2 Dandy-Walker Complex Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy Dandy-Walker Malformation with Postaxial Polydactyly Dandy-Walker Syndrome Danon Disease Davis Lafer Syndrome Deafness, Aminoglycoside-Induced Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 13 Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 16 Deafness, Autosomal Dominant 17 Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 21 Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 23 Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 27 Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 2a Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 33 Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 40 Deafness, Autosomal Dominant 41 Deafness, Autosomal Dominant 43 Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 47 Deafness, Autosomal Dominant 48 Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 5 Deafness, Autosomal Dominant 50 Deafness, Autosomal Dominant 51 Deafness, Autosomal Dominant 52 Deafness, Autosomal Dominant 53 Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 58 Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 6 Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 69 Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72 Deafness, Autosomal Dominant 73 Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 Deafness, Autosomal Recessive Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103 Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 105 Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108 Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 13 Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 16 Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 2 Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 26 Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement Deafness, Autosomal Recessive 37 Deafness, Autosomal Recessive 38 Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct Deafness, Autosomal Recessive 5 Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 7 Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 71 Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 76 Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 8 Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 91 Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 97 Deafness, Autosomal Recessive 98 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Deafness, Dystonia, and Cerebral Hypomyelination Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome Deafness Hyperuricemia Neurologic Ataxia Deafness Mesenteric Diverticula of Small Bowel Neuropathy Deafness Nephritis Anorectal Malformation Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy Deafness, Neurosensory Nonsyndromic Recessive, Dfn Deafness Peripheral Neuropathy Arterial Disease Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease Deafness, X-Linked 1 Deafness, X-Linked 2 Deafness, X-Linked 3 Deafness, X-Linked 4 Deafness, X-Linked 5 Deafness, X-Linked 6 Deafness, Y-Linked 1 De Barsy Syndrome Dementia, Lewy Body Dementia Pugilistica Demyelinating Disease Demyelinating Polyneuropathy Dentatorubral-Pallidoluysian Atrophy Depersonalization Disorder Dermatitis, Atopic Dermatitis, Atopic, 2 Dermatitis, Atopic, 3 Dermatitis, Atopic, 4 Dermatitis, Atopic, 5 Dermatitis, Atopic, 6 Dermatitis, Atopic, 7 Dermatitis, Atopic, 8 Dermatitis, Atopic, 9 Dermatoleukodystrophy Dermatomyositis Desanto-Shinawi Syndrome Desmoplastic Infantile Astrocytoma/ganglioglioma Developmental Delay-Deafness Syndrome, Hildebrand Type Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair Devriendt Syndrome Dextrocardia with Unusual Facies and Microphthalmia Diabetes Insipidus Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Diabetes Insipidus, Neurohypophyseal Diabetes Mellitus, Permanent Neonatal Diabetic Autonomic Neuropathy Diabetic Encephalopathy Diabetic Neuropathy Diabetic Polyneuropathy Diastematomyelia Diencephalic Astrocytomas Diencephalic-Mesencephalic Junction Dysplasia Diencephalic Neoplasm Differentiating Neuroblastoma Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia Diffuse Intrinsic Pontine Glioma Diffuse Large B-Cell Lymphoma of the Central Nervous System Diffuse Leptomeningeal Melanocytosis Diffuse Meningeal Melanocytosis Digital Anomalies-Intellectual Disability-Short Stature Syndrome Dihydrolipoamide Dehydrogenase Deficiency Dilated Cardiomyopathy Dilated Cardiomyopathy 1t Diplegia of Upper Limb Disease of Mental Health Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation Dissociated Nystagmus Distal Hereditary Motor Neuropathies Distal Hereditary Motor Neuropathy Type 7 Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy, Type V Distal Trisomy 15q Distal Xq28 Microduplication Syndrome Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy Dopamine Beta-Hydroxylase Deficiency, Congenital Down Syndrome Drachtman Weinblatt Sitarz Syndrome Drug-Induced Mental Disorder Duane Retraction Syndrome Duane Retraction Syndrome 1 Duane Retraction Syndrome 2 Dubowitz Syndrome Duker Weiss Siber Syndrome Duodenal Gastrinoma Duodenal Somatostatinoma Duplication of the Pituitary Gland Dural Sinus Malformation Dwarfism, Mental Retardation, and Eye Abnormality Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion Dysembryoplastic Neuroepithelial Tumor Dyskeratosis Congenita Dyskeratosis Congenita Autosomal Dominant Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3 Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Recessive Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3 Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6 Dyskinesia, Familial, with Facial Myokymia Dyskinesia, Limb and Orofacial, Infantile-Onset Dyskinesia, Seizures, and Intellectual Developmental Disorder Dyskinetic Cerebral Palsy Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome Dysphasia, Familial Developmental Dystonia Dystonia 11, Myoclonic Dystonia 12 Dystonia 13, Torsion, Autosomal Dominant Dystonia 15, Myoclonic Dystonia 16 Dystonia 17, Torsion, Autosomal Recessive Dystonia 1, Torsion, Autosomal Dominant Dystonia 21 Dystonia 23 Dystonia 24 Dystonia 25 Dystonia 26, Myoclonic Dystonia 27 Dystonia 2, Torsion, Autosomal Recessive Dystonia 3, Torsion, X-Linked Dystonia 4, Torsion, Autosomal Dominant Dystonia 6, Torsion Dystonia 7, Torsion Dystonia 9 Dystonia-Aphonia Syndrome Dystonia, Dopa-Responsive Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency Dystonia, Juvenile-Onset Early Congenital Syphilis Early Myoclonic Encephalopathy Early Onset Absence Epilepsy Early-Onset, Autosomal Dominant Alzheimer Disease Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation Early-Onset Familial Alzheimer Disease Early-Onset Generalized Limb-Onset Dystonia Early-Onset Parkinson Disease Early-Onset Parkinsonism-Intellectual Disability Syndrome Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome Early-Onset Schizophrenia Eastern Equine Encephalitis Eating Reflex Epilepsy Ectodermal Dysplasia and Neurosensory Deafness Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum Ectodermal Dysplasia with Mental Retardation and Syndactyly Ectomesenchymoma Efavirenz, Poor Metabolism of Ehlers-Danlos Syndrome, Beasley-Cohen Type Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 Embryonal Tumor with Multilayered Rosettes Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy 1, X-Linked Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type Emery-Dreifuss Muscular Dystrophy, X-Linked Emilin-1-Related Connective Tissue Disease Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation Encephalitis Encephalocele Encephalomalacia Encephalopathy Encephalopathy, Acute, Infection-Induced 4 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy Encephalopathy, Progressive, with or Without Lipodystrophy Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Eosinophilic Fasciitis Eosinophilic Granulomatosis with Polyangiitis Eosinophilic Meningitis Ependymoblastoma Ependymoma Epidermoid Brain Cyst Epidermolysis Bullosa Dystrophica Neurotrophica Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation Epidermolysis Bullosa Simplex with Muscular Dystrophy Epidural Abscess Epidural Neoplasm Epidural Spinal Canal Angiolipoma Epidural Spinal Canal Meningioma Epilepsy Epilepsy-Aphasia Spectrum Epilepsy, Benign Occipital Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 2 Epilepsy, Childhood Absence 5 Epilepsy, Childhood Absence 6 Epilepsy, Familial Adult Myoclonic, 1 Epilepsy, Familial Adult Myoclonic, 2 Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Familial Adult Myoclonic, 4 Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Familial Focal, with Variable Foci 1 Epilepsy, Familial Focal, with Variable Foci 2 Epilepsy, Familial Focal, with Variable Foci 3 Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Familial Temporal Lobe, 2 Epilepsy, Familial Temporal Lobe, 3 Epilepsy, Familial Temporal Lobe, 4 Epilepsy, Familial Temporal Lobe, 5 Epilepsy, Familial Temporal Lobe, 6 Epilepsy, Familial Temporal Lobe, 7 Epilepsy, Familial Temporal Lobe, 8 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Epilepsy, Hearing Loss, and Mental Retardation Syndrome Epilepsy, Idiopathic Generalized Epilepsy, Idiopathic Generalized 10 Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 14 Epilepsy, Idiopathic Generalized 2 Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4 Epilepsy, Idiopathic Generalized 5 Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 9 Epilepsy, Juvenile Absence 1 Epilepsy, Juvenile Myoclonic 9 Epilepsy Mental Deterioration Finnish Type Epilepsy, Myoclonic Juvenile Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, 3 Epilepsy, Nocturnal Frontal Lobe, 5 Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation Epilepsy, Progressive Myoclonic, 10 Epilepsy, Progressive Myoclonic, 1b Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure Epilepsy, Progressive Myoclonic, 6 Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9 Epilepsy Progressive Myoclonic Type 3 Epilepsy, Pyridoxine-Dependent Epilepsy, Reading Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp Epilepsy-Telangiectasia Epilepsy with Bilateral Occipital Calcifications Epilepsy with Generalized Tonic-Clonic Seizures Epilepsy with Myoclonic Absences Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Epileptic Encephalopathy, Childhood-Onset Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 11 Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15 Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 36 Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Infantile or Early Childhood, 1 Epileptic Encephalopathy, Infantile or Early Childhood, 2 Epiphyseal Dysplasia Hearing Loss Dysmorphism Episodic Ataxia Episodic Ataxia, Type 1 Episodic Ataxia, Type 2 Episodic Ataxia, Type 3 Episodic Ataxia, Type 4 Episodic Ataxia, Type 5 Episodic Ataxia, Type 6 Episodic Ataxia, Type 7 Episodic Ataxia, Type 8 Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia 2 Episodic Pain Syndrome, Familial, 1 Episodic Pain Syndrome, Familial, 2 Episodic Pain Syndrome, Familial, 3 Epithelioid Malignant Peripheral Nerve Sheath Tumor Epithelioid Neurofibroma Erythermalgia, Primary Erythrocyte Lactate Transporter Defect Erythromelalgia Esophageal Neuroendocrine Tumor Esophagus Small Cell Carcinoma Esotropia Essential Tremor Ewing's Family of Tumors Ewing Sarcoma Exercise-Induced Malignant Hyperthermia Exophthalmic Ophthalmoplegia Exotropia Extensive Peripapillary Myelinated Nerve Fibers External Ear Basal Cell Carcinoma External Ear Carcinoma External Ear Squamous Cell Carcinoma Extracranial Neuroblastoma Extraneural Perineurioma Extraocular Retinoblastoma Extraosseous Ewing's Sarcoma Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Extrapyramidal and Movement Disease Extraskeletal Ewing Sarcoma Extratemporal Epilepsy Extraventricular Neurocytoma Exudative Vitreoretinopathy Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 4 Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7 Eyelid Degenerative Disease Eyelid Neoplasm Eye Lymphoma Fabry Disease Facial Abnormalities, Kyphoscoliosis, and Mental Retardation Facial Diplegia with Paresthesias Facial Hemiatrophy Facial Nerve Disease Facial Nerve Neoplasm Facial Neuralgia Facial Onset Sensory and Motor Neuronopathy Facial Palsy, Familial Recurrent Peripheral Facial Paralysis Facial Paresis, Hereditary Congenital, 1 Facial Paresis, Hereditary Congenital, 2 Facial Paresis, Hereditary Congenital, 3 Facioscapulohumeral Muscular Dystrophy 1 Facioscapulohumeral Muscular Dystrophy 2 Fallot Complex with Severe Mental and Growth Retardation Familial Acute Necrotizing Encephalopathy Familial Adenomatous Polyposis Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2 Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4 Familial Alzheimer-Like Prion Disease Familial Amyloidosis, Finnish Type Familial Band Heterotopia Familial Bilateral Striatal Necrosis Familial Cerebral Saccular Aneurysm Familial Cervical Artery Dissection Familial Chilblain Lupus Familial Deafness Familial Episodic Pain Syndrome Familial Gastric Type 1 Neuroendocrine Tumor Familial Hemiplegic Migraine Familial Idiopathic Basal Ganglia Calcification Familial Infantile Bilateral Striatal Necrosis Familial or Sporadic Hemiplegic Migraine Familial Paroxysmal Nonkinesigenic Dyskinesia Familial Porencephaly Familial Retinoblastoma Familial Syringomyelia Fanconi-Bickel Syndrome Farber Lipogranulomatosis Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Fatal Familial Insomnia Fatal Post-Viral Neurodegenerative Disorder Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome Febrile Infection-Related Epilepsy Syndrome Febrile Seizures Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11 Febrile Seizures, Familial, 2 Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 5 Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9 Feigenbaum Bergeron Richardson Syndrome Feingold Syndrome 1 Feingold Syndrome 2 Feingold Trainer Syndrome Femoral Neuropathy Ferro-Cerebro-Cutaneous Syndrome Fetal Akinesia Syndrome, X-Linked Fetal Alcohol Spectrum Disorder Fetal Alcohol Syndrome Fetal Brain Disruption Sequence Fetal Cytomegalovirus Syndrome Fg Syndrome 4 Fibrillary Astrocytoma Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation Fibrous Meningioma Filippi Syndrome Fingerprint Body Myopathy Fitzsimmons Syndrome Floating-Harbor Syndrome Flynn-Aird Syndrome Focal Cortical Dysplasia, Type Ii Focal Dermal Hypoplasia Focal Dystonia Focal Epilepsy Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation Focal Hand Dystonia Focal Myositis Focal or Multifocal Malformations in Neuronal Migration Foix-Alajouanine Syndrome Folinic Acid-Responsive Seizures Foodborne Botulism Foramen Magnum Meningioma Foster-Kennedy Syndrome Fountain Syndrome Fourth Cranial Nerve Palsy Fourth Cranial Nerve Palsy, Familial Congenital Foveal Hypoplasia 1 Foveal Hypoplasia 2 Fragile X-Associated Tremor/ataxia Syndrome Fragile X Syndrome Fragile X Syndrome Type 1 Fragile X Syndrome Type 2 Fragile X Syndrome Type 3 Fragile X Tremor/ataxia Syndrome Free Sialic Acid Storage Disorders Friedreich Ataxia 1 Friedreich Ataxia 2 Froelich Syndrome Frontal Convexity Meningioma Frontal Encephalocele Frontal Lobe Neoplasm Frontometaphyseal Dysplasia Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2 Frontotemporal Dementia Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related Fryns Macrocephaly Fryns Syndrome Fukuyama Type Muscular Dystrophy Fumarase Deficiency Fungal Meningitis Fungal Myositis Gaba-Transaminase Deficiency Galactosialidosis Gallbladder Neuroendocrine Tumor Gallbladder Small Cell Carcinoma Galloway-Mowat Syndrome Galloway-Mowat Syndrome 1 Galloway-Mowat Syndrome 3 Galloway-Mowat Syndrome 4 Galloway-Mowat Syndrome 5 Gangliocytoma Ganglioglioma Ganglioneuroblastoma Ganglioneuroma Gangliosidosis Gm1 Gangliosidosis Gm2 Gapo Syndrome Gars-Associated Axonal Neuropathy Gasserian Ganglion Meningioma Gastric Gastrinoma Gastric Neuroendocrine Neoplasm Gastric Neuroendocrine Tumor Gastro-Enteropancreatic Neuroendocrine Tumor Gastrointestinal Neuroendocrine Benign Tumor Gastrointestinal Neuroendocrine Tumor Gatad2b-Associated Neurodevelopmental Disorder Gaucher's Disease Gaucher Disease, Type I Gaucher Disease, Type Ii Gaucher Disease, Type Iii Gaucher Disease, Type Iiic Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 Gdap1-Related Hereditary Motor and Sensory Neuropathy Gemignani Syndrome Gemistocytic Astrocytoma Generalized Epilepsy with Febrile Seizures Plus Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2 Generalized Epilepsy with Febrile Seizures Plus, Type 3 Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6 Generalized Epilepsy with Febrile Seizures Plus, Type 7 Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 9 Genetic Recurrent Myoglobinuria Geniculate Ganglionitis Geniculate Herpes Zoster Geniospasm 1 Genitopatellar Syndrome Gerstmann-Straussler Disease Gerstmann Syndrome Giant Axonal Neuropathy Giant Axonal Neuropathy 1, Autosomal Recessive Giant Axonal Neuropathy 2 Giant Axonal Neuropathy 2, Autosomal Dominant Giant Cell Glioblastoma Gillespie Syndrome Glaucomatous Atrophy of Optic Disc Glioblastoma Glioependymal/ependymal Cyst Glioma Glioma Susceptibility 1 Glioma Susceptibility 2 Glioma Susceptibility 3 Glioma Susceptibility 4 Glioma Susceptibility 5 Glioma Susceptibility 6 Glioma Susceptibility 7 Glioma Susceptibility 8 Glioma Susceptibility 9 Gliomatosis Cerebri Gliosarcoma Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome Glomuvenous Malformations Glossopharyngeal Motor Neuropathy Glossopharyngeal Nerve Disease Glossopharyngeal Nerve Neoplasm Glossopharyngeal Nerve Paralysis Glossopharyngeal Neuralgia Glucose Transporter Type 1 Deficiency Syndrome Glut1 Deficiency Syndrome 1 Glut1 Deficiency Syndrome 2 Glutamic Acid Decarboxylase, Brain, Membrane Form Glutamine Deficiency, Congenital Glutaric Acidemia I Glutaric Acidemia Type Iii Glutaric Aciduria Iii Glycerol Kinase Deficiency Glycine Encephalopathy Glycine Encephalopathy with Normal Serum Glycine Glycogen Storage Disease Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency Glycogen Storage Disease Ia Glycogen Storage Disease Ib Glycogen Storage Disease Ic Glycogen Storage Disease Ii Glycogen Storage Disease Iii Glycogen Storage Disease Iv Glycogen Storage Disease Ix Glycogen Storage Disease Ixa Glycogen Storage Disease Ixb Glycogen Storage Disease Ixc Glycogen Storage Disease Type 0 Glycogen Storage Disease, Type Ixd Glycogen Storage Disease V Glycogen Storage Disease Vi Glycogen Storage Disease Vii Glycogen Storage Disease Viii Glycogen Storage Disease X Glycogen Storage Disease Xii Glycogen Storage Disease Xiii Glycogen Storage Disease Xv Glycosylphosphatidylinositol Biosynthesis Defect 15 Glycosylphosphatidylinositol Biosynthesis Defect 16 Glycosylphosphatidylinositol Deficiency Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii Gm1-Gangliosidosis, Type Iii Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, Ab Variant Gm2-Gangliosidosis, B, B1, Ab Variant Gms Syndrome Goldberg-Shprintzen Syndrome Gomez-Lopez-Hernandez Syndrome Gordon Holmes Syndrome Grade Iii Astrocytoma Granulomatous Angiitis Grid2-Related Spinocerebellar Ataxia Griscelli Syndrome Griscelli Syndrome, Type 1 Griscelli Syndrome, Type 2 Griscelli Syndrome, Type 3 Grix Blankenship Peterson Syndrome Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Retardation, Small and Puffy Hands and Feet, and Eczema Guillain-Barre Syndrome Guillain-Barre Syndrome, Familial Gurrieri Syndrome Gyrate Atrophy of Choroid and Retina Haemophilus Meningitis Hair Defect-Photosensitivity-Intellectual Disability Syndrome Hair Defect with Photosensitivity and Mental Retardation Hallermann-Streiff-Like Syndrome Hallermann-Streiff Syndrome Hall-Riggs Mental Retardation Syndrome Hamamy Syndrome Handl Syndrome Harlequin Syndrome Harrod Syndrome Hartnup Disorder Hartsfield Syndrome Hashimoto's Encephalitis Headache Heart and Brain Malformation Syndrome Helsmoortel-Van Der Aa Syndrome Hemangioblastoma Hemangioma of Peripheral Nerve Hemicrania Continua Hemidystonia Hemidystonia-Hemiatrophy Syndrome Hemifacial Atrophy, Progressive Hemifacial Spasm Hemifacial Spasm, Familial Hemimegalencephaly Hemiparkinsonism-Hemiatrophy Syndrome Hemiplegia Hemiplegic Migraine Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 Hemophagocytic Lymphohistiocytosis, Familial, 4 Hemophagocytic Lymphohistiocytosis, Familial, 5 Hemorrhage, Intracerebral Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts Hendra Virus Infection Hennekam Syndrome Hepatic Coma Hepatic Encephalopathy Hereditary Amyloidosis Hereditary Ataxia Hereditary Central Diabetes Insipidus Hereditary Congenital Facial Paresis Hereditary Dystonia Hereditary Geniospasm Hereditary Hemorrhagic Telangiectasia Hereditary Inclusion Body Myopathy Type 4 Hereditary Late-Onset Parkinson Disease Hereditary Lymphedema Hereditary Motor and Sensory Neuropathy, Type Iic Hereditary Motor and Sensory Neuropathy V Hereditary Motor and Sensory Neuropathy with Acrodystrophy Hereditary Myopathy with Early Respiratory Failure Hereditary Neuroendocrine Tumor of Small Intestine Hereditary Neuropathies Hereditary Neuropathy with Liability to Pressure Palsy Hereditary Peripheral Nervous Disorder Hereditary Sensorimotor Neuropathy with Hyperelastic Skin Hereditary Sensory and Autonomic Neuropathy Type 1e Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay Hereditary Sensory Neuropathy Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72 Hereditary Type 1 Neuropathy Hereditary Type 2 Neuropathy Hernández-Aguirre Negrete Syndrome Herpes Simplex Encephalitis Herpes Simplex Encephalitis 1 Herpes Simplex Encephalitis 2 Herpes Simplex Encephalitis 3 Herpes Simplex Encephalitis 4 Herpes Simplex Encephalitis 7 Hersh Podruch Weisskopk Syndrome High-Grade Neuroendocrine Carcinoma of the Cervix Uteri High-Grade Neuroendocrine Carcinoma of the Corpus Uteri High Pressure Neurological Syndrome Hinman Syndrome Hirschsprung Disease Ganglioneuroblastoma Hirsutism, Skeletal Dysplasia, and Mental Retardation Histoplasmosis Meningitis Hivep2-Related Intellectual Disability Holoprosencephaly Holoprosencephaly 1 Holoprosencephaly 11 Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 4 Holoprosencephaly 5 Holoprosencephaly 6 Holoprosencephaly 7 Holoprosencephaly 8 Holoprosencephaly 9 Holoprosencephaly Caudal Dysgenesis Holoprosencephaly, Semilobar, with Craniosynostosis Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity Homocystinuria-Megaloblastic Anemia, Cble Complementation Type Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type Homocystinuria Without Methylmalonic Aciduria Hordnes Engebretsen Knudtson Syndrome Horner's Syndrome Horner Syndrome, Congenital Hot Water Reflex Epilepsy Hsd10 Mitochondrial Disease Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Hunter Carpenter Macdonald Syndrome Hunter-Mcalpine Syndrome Huntington Disease Huntington Disease-Like 1 Huntington Disease-Like 2 Huntington Disease-Like 3 Huntington Disease-Like Syndrome Huntington Disease-Like Syndrome Due to C9orf72 Expansions Hurler-Scheie Syndrome Hurler Syndrome Hyaline Fibromatosis Syndrome Hydranencephaly Hydrocephalus Hydrocephalus, Autosomal Dominant Hydrocephalus Autosomal Recessive Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hydrocephalus, Normal-Pressure Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia Hydrocephalus with Cerebellar Agenesis Hydrocephalus with Stenosis of the Aqueduct of Sylvius Hydrolethalus Syndrome 1 Hydrolethalus Syndrome 2 Hydromyelia Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hydroxykynureninuria Hyper-Beta-Alaninemia Hyperekplexia Hyperekplexia 1 Hyperekplexia 2 Hyperekplexia 3 Hyperekplexia, Hereditary 1 Hyperglycinemia, Lactic Acidosis, and Seizures Hyperhidrosis, Gustatory Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency Hypermanganesemia with Dystonia Hypermanganesemia with Dystonia 1 Hypermanganesemia with Dystonia 2 Hypermethioninemia Due to Adenosine Kinase Deficiency Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Hyperphenylalaninemia, Bh4-Deficient, a Hyperphenylalaninemia, Bh4-Deficient, B Hyperphenylalaninemia, Bh4-Deficient, C Hyperphenylalaninemia, Bh4-Deficient, D Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency Hyperphosphatasia-Intellectual Disability Syndrome Hyperphosphatasia with Mental Retardation Syndrome 1 Hyperphosphatasia with Mental Retardation Syndrome 2 Hyperphosphatasia with Mental Retardation Syndrome 3 Hyperphosphatasia with Mental Retardation Syndrome 4 Hyperphosphatasia with Mental Retardation Syndrome 5 Hyperphosphatasia with Mental Retardation Syndrome 6 Hyperprolinemia Hyperprolinemia, Type I Hyperprolinemia, Type Ii Hypersomnia Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes Hypertelorism, Microtia, Facial Clefting Syndrome Hypertensive Encephalopathy Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypertrichosis of Eyelid Hypertrophic Neuropathy and Cataract Hypertrophic Neuropathy of Dejerine-Sottas Hypertropia Hypnic Headache Hypocalcemia, Autosomal Dominant 1 Hypocalcemia, Autosomal Dominant 2 Hypochondriasis Hypoglossal Nerve Disease Hypoglossal Nerve Neoplasm Hypoglycemic Coma Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies Hypogonadism with Low-Grade Mental Deficiency and Microcephaly Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome Hypokalemic Periodic Paralysis, Type 1 Hypokalemic Periodic Paralysis, Type 2 Hypomagnesemia, Seizures, and Mental Retardation Hypomelanosis of Ito Hypomyelinating Leukodystrophy Hypomyelinating Leukoencephalopathy Hypomyelination Neuropathy-Arthrogryposis Syndrome Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Hypopigmentation of Eyelid Hypospadias-Mental Retardation Syndrome Hypothalamic Adipsic Hypernatraemia Syndrome Hypothalamic Disease Hypothalamic Hamartomas with Gelastic Seizures Hypothalamic Neoplasm Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses Hypotonia, Infantile, with Psychomotor Retardation Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome Hypotrichosis-Intellectual Disability, Lopes Type Hypotrichosis of Eyelid Hypotropia Iatrogenic Botulism Ichthyosis Alopecia Eclabion Ectropion Mental Retardation Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Ichthyosis, Spastic Quadriplegia, and Mental Retardation Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation Idiopathic Acute Transverse Myelitis Idiopathic Dropped Head Syndrome Idiopathic Eosinophilic Myositis Idiopathic Hemiconvulsion-Hemiplegia Syndrome Idiopathic Hypersomnia Idiopathic Hypersomnia with Long Sleep Time Idiopathic Hypersomnia Without Long Sleep Time Idiopathic Macular Telangiectasia Type 1 Idiopathic Macular Telangiectasia Type 3 Idiopathic Peripheral Autonomic Neuropathy Idiopathic Progressive Polyneuropathy Idiopathic Recurrent Stupor Idiopathic Spinal Cord Herniation Idiopathic Syringomyelia Ifap Syndrome with or Without Bresheck Syndrome Igg4-Related Pachymeningitis Ileal Neuroendocrine Tumor Immunodeficiency 23 Immunodeficiency 26 with or Without Neurologic Abnormalities Immunodeficiency 47 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities Inclusion Body Myositis Incontinentia Pigmenti Indifference to Pain, Congenital, Autosomal Recessive Indolylacroyl Glycinuria with Mental Retardation Infancy Electroclinical Syndrome Infant Botulism Infant Epilepsy with Migrant Focal Crisis Infantile Axonal Neuropathy Infantile Cerebellar-Retinal Degeneration Infantile Epileptic Encephalopathy Infantile Glycine Encephalopathy Infantile Krabbe Disease Infantile Myofibromatosis Infantile-Onset Ascending Hereditary Spastic Paralysis Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression Infantile Osteopetrosis with Neuroaxonal Dysplasia Infantile Sialic Acid Storage Disease Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome Infantile Spasms Broad Thumbs Inflammatory and Toxic Neuropathy Inflammatory Myopathy with Abundant Macrophages Infratentorial Cancer Infundibulo-Neurohypophysitis Inhalational Botulism Inherited Congenital Spastic Tetraplegia Iniencephaly Inner Ear Cancer Insensitivity to Pain, Congenital, with Anhidrosis Insulin-Like Growth Factor I Intellectual Deficit Buenos-Aires Type Intellectual Deficit - Short Stature - Hypertelorism Intellectual Developmental Disorder with Neuropsychiatric Features Intellectual Disability - Athetosis - Microphthalmia Intellectual Disability-Cataracts-Kyphosis Syndrome Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome Intellectual Disability-Short Stature-Hypertelorism Syndrome Intellectual Disability-Spasticity-Ectrodactyly Syndrome Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation Intermediate Cell Type Ciliary Body Melanoma Intermediate Congenital Nemaline Myopathy Intermediate Dend Syndrome Intermediate Severe Salla Disease Intermittent Squint Internal Auditory Canal Lipoma Internal Auditory Canal Meningioma Internal Carotid Agenesis Internuclear Ophthalmoplegia Intestinal Botulism Intestinal Neuroendocrine Benign Tumor Intestinal Obstruction Intestinal Pseudo-Obstruction Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked Intracerebral Cystic Meningioma Intracranial Abscess Intracranial Aneurysm Intracranial Aneurysms Multiple Congenital Anomaly Intracranial Hypertension Intracranial Hypertension, Idiopathic Intracranial Hypotension Intracranial Primitive Neuroectodermal Tumor Intraneural Perineurioma Intraocular Lymphoma Intraocular Retinoblastoma Intraventricular Meningioma Iris Mixed Cell Melanoma Iris Spindle Cell Melanoma Irvan Syndrome Ischemic Neuropathy Ischemic Optic Neuropathy Isodicentric Chromosome 15 Syndrome Isolated Amyelia Isolated Arhinencephaly Isolated Bilateral Hemispheric Cerebellar Hypoplasia Isolated Cerebellar Hypoplasia/agenesis Isolated Cerebellar Vermis Agenesis Isolated Cerebellar Vermis Hypoplasia Isolated Congenital Microcephaly Isolated Dandy-Walker Malformation with Hydrocephalus Isolated Dandy-Walker Malformation Without Hydrocephalus Isolated Encephalocele Isolated Facial Myokymia Isolated Focal Cortical Dysplasia Type I Isolated Focal Cortical Dysplasia Type Ia Isolated Focal Cortical Dysplasia Type Ib Isolated Focal Cortical Dysplasia Type Ic Isolated Lissencephaly Type 1 Without Known Genetic Defects Isolated Megalencephaly Isolated Partial Cerebellar Vermis Agenesis Isolated Total Cerebellar Vermis Agenesis Isolated Unilateral Hemispheric Cerebellar Hypoplasia Japanese Encephalitis Jawad Syndrome Jeavons Syndrome Jejunal Neuroendocrine Tumor Jejunal Somatostatinoma Johanson-Blizzard Syndrome Johnson Neuroectodermal Syndrome Joubert Syndrome 1 Joubert Syndrome 10 Joubert Syndrome 13 Joubert Syndrome 14 Joubert Syndrome 15 Joubert Syndrome 16 Joubert Syndrome 17 Joubert Syndrome 18 Joubert Syndrome 2 Joubert Syndrome 20 Joubert Syndrome 21 Joubert Syndrome 22 Joubert Syndrome 23 Joubert Syndrome 24 Joubert Syndrome 25 Joubert Syndrome 26 Joubert Syndrome 27 Joubert Syndrome 28 Joubert Syndrome 3 Joubert Syndrome 30 Joubert Syndrome 31 Joubert Syndrome 32 Joubert Syndrome 33 Joubert Syndrome 4 Joubert Syndrome 5 Joubert Syndrome 6 Joubert Syndrome 7 Joubert Syndrome 8 Joubert Syndrome 9 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy Joubert Syndrome with Ocular Anomalies Joubert Syndrome with Oculorenal Anomalies Joubert Syndrome with Renal Anomalies Jugular Foramen Meningioma Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Astrocytoma Juvenile Huntington Disease Juvenile Myasthenia Gravis Juvenile-Onset Parkinson Disease Juvenile Overlap Myositis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Kabuki Syndrome 1 Kabuki Syndrome 2 Kagami-Ogata Syndrome Kahrizi Syndrome Kanzaki Disease Kaposi Sarcoma Kapur-Toriello Syndrome Karak Syndrome Karandikar Maria Kamble Syndrome Katsantoni Papadakou Lagoyanni Syndrome Kaufman Oculocerebrofacial Syndrome Kbg Syndrome Kcnk9 Imprinting Syndrome Kearns-Sayre Syndrome Kelley-Seegmiller Syndrome Kennerknecht Syndrome Keratoderma Palmoplantar Spastic Paralysis Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy Keratosis Follicularis, Dwarfism, and Cerebral Atrophy Kernicterus Kernicterus Due to Isoimmunization Keutel Syndrome Kifafa Seizure Disorder Kleefstra Syndrome Kleefstra Syndrome 1 Kleefstra Syndrome 2 Kleefstra Syndrome Due to a Point Mutation Kleine-Levin Hibernation Syndrome Klhl9-Related Early-Onset Distal Myopathy Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism Kluver-Bucy Syndrome Koone Rizzo Elias Syndrome Kosaki Overgrowth Syndrome Kosztolanyi Syndrome Kozlowski-Krajewska Syndrome Kozlowski Ouvrier Syndrome Krabbe Disease Kufor-Rakeb Syndrome Kuru Kuzniecky Andermann Syndrome L-2-Hydroxyglutaric Aciduria Labyrinthitis Lacrimal Duct Cancer Lacrimal Gland Adenocarcinoma Lacrimal Gland Adenoid Cystic Carcinoma Lacrimal Gland Carcinoma Lacrimal Gland Mucoepidermoid Carcinoma Lacrimal Gland Squamous Cell Carcinoma Lacrimal System Cancer La Crosse Encephalitis Lambert-Eaton Myasthenic Syndrome Lamb-Shaffer Syndrome Landau-Kleffner Syndrome Large Cell Medulloblastoma Large Cell Neuroendocrine Carcinoma Laryngeal Abductor Paralysis-Intellectual Disability Syndrome Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy Laryngeal Neuroendocrine Tumor Late Congenital Syphilis Late-Infantile/juvenile Krabbe Disease Lateral Meningocele Syndrome Lateral Sclerosis Lateral Ventricle Meningioma Lattice Corneal Dystrophy Lattice Corneal Dystrophy Type Ii Laurence-Moon Syndrome Leber Congenital Amaurosis Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14 Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 2 Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 9 Leber Hereditary Optic Neuropathy Leber Optic Atrophy Leber Optic Atrophy and Dystonia Legius Syndrome Leigh Syndrome Leigh Syndrome, French Canadian Type Leigh Syndrome with Leukodystrophy Leigh Syndrome with Nephrotic Syndrome Lennox-Gastaut Syndrome Lentiginosis, Centrofacial Neurodysraphic Lenz-Majewski Hyperostotic Dwarfism Leprosy 1 Leprosy 2 Leprosy 3 Leprosy 4 Leprosy 5 Leprosy 6 Leptomeninges Sarcoma Leptomyelolipoma Lesch-Nyhan Syndrome Lesion of Sciatic Nerve Lethal Congenital Contracture Syndrome Lethal Congenital Contracture Syndrome 1 Lethal Congenital Contracture Syndrome 10 Lethal Congenital Contracture Syndrome 11 Lethal Congenital Contracture Syndrome 2 Lethal Congenital Contracture Syndrome 3 Lethal Congenital Contracture Syndrome 4 Lethal Congenital Contracture Syndrome 5 Lethal Congenital Contracture Syndrome 6 Lethal Congenital Contracture Syndrome 7 Lethal Congenital Contracture Syndrome 8 Lethal Congenital Contracture Syndrome 9 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome Leukodystrophy Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant Leukodystrophy, Hypomyelinating, 10 Leukodystrophy, Hypomyelinating, 11 Leukodystrophy, Hypomyelinating, 12 Leukodystrophy, Hypomyelinating, 13 Leukodystrophy, Hypomyelinating, 2 Leukodystrophy, Hypomyelinating, 3 Leukodystrophy, Hypomyelinating, 4 Leukodystrophy, Hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 6 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism Leukodystrophy, Hypomyelinating, 9 Leukoencephalopathy, Brain Calcifications, and Cysts Leukoencephalopathy, Cystic, Without Megalencephaly Leukoencephalopathy, Hereditary Diffuse, with Spheroids Leukoencephalopathy with Ataxia Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with Dystonia and Motor Neuropathy Leukoencephalopathy with Metaphyseal Chondrodysplasia Leukoencephalopathy with Vanishing White Matter Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis Leukomelanoderma Mental Redardation Hypotrichosis Lewis-Sumner Syndrome Lichtenstein-Knorr Syndrome Li-Fraumeni Syndrome Li-Fraumeni Syndrome 2 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy, Type 1g Limbic Encephalitis with Caspr2 Antibodies Limbic Encephalitis with Dpp6 Antibodies Limbic Encephalitis with Lgi1 Antibodies Limbic Encephalitis with Ncmags Antibodies Limbic Encephalitis with Nmda Receptor Antibodies Linear Skin Defects with Multiple Congenital Anomalies 1 Linear Skin Defects with Multiple Congenital Anomalies 2 Linear Skin Defects with Multiple Congenital Anomalies 3 Lingual-Facial-Buccal Dyskinesia Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency Lipodystrophy, Congenital Generalized, Type 1 Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4 Lipomyelomeningocele Lissencephaly Lissencephaly 1 Lissencephaly 2 Lissencephaly 3 Lissencephaly 4 Lissencephaly 5 Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly 8 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome Lissencephaly Type Iii and Bone Dysplasia Lissencephaly with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type B Lissencephaly with Cerebellar Hypoplasia Type C Lissencephaly with Cerebellar Hypoplasia Type D Lissencephaly with Cerebellar Hypoplasia Type E Lissencephaly with Cerebellar Hypoplasia Type F Lissencephaly, X-Linked, 1 Lissencephaly, X-Linked, 2 Listeria Meningitis Lobar Holoprosencephaly Localized Hypertrophic Neuropathy Localized Scleroderma Locked-in Syndrome Logopenic Progressive Aphasia Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Lowe Oculocerebrorenal Syndrome Lower Clivus Meningioma Low Grade Ependymoma Low-Grade Neuroendocrine Tumor of the Corpus Uteri Lowry-Maclean Syndrome Lubani-Al Saleh-Teebi Syndrome Lubs X-Linked Mental Retardation Syndrome Lujan-Fryns Syndrome Lujan Syndrome Lumbar Spinal Canal and Spinal Cord Meningioma Lumbosacral Plexus Lesion Lumbosacral Spina Bifida Aperta Lumbosacral Spina Bifida Cystica Lung Clear Cell Carcinoma Lung Combined Large Cell Neuroendocrine Carcinoma Lung Large Cell Carcinoma Lung Meningioma Lupus - Neurological Sequelae Lyme Disease Lyme Disease - Neurological Complications Lymphedema Lymphedema, Congenital Recessive Lymphedema, Hereditary, Ia Lymphedema, Hereditary, Ib Lymphedema, Hereditary, Ic Lymphedema, Hereditary, Id Lymphedema, Hereditary, Ii Lymphedema, Hereditary, Iii Lymphoma Lymphoplasmacyte-Rich Meningioma Macdermot-Winter Syndrome Machado-Joseph Disease Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 2 Machado-Joseph Disease Type 3 Macrocephaly/autism Syndrome Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Macrocephaly-Short Stature-Paraplegia Syndrome Macroglobulinemia, Waldenstrom 1 Macroglobulinemia, Waldenstrom 2 Macrophagic Myofasciitis Madras Motor Neuron Disease Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type Malignant Adult Ependymoma Malignant Cardiac Peripheral Nerve Sheath Neoplasm Malignant Choroid Melanoma Malignant Ciliary Body Melanoma Malignant Conjunctival Melanoma Malignant Cornea Melanoma Malignant Ectomesenchymoma Malignant Ependymoma Malignant Glandular Tumor of Peripheral Nerve Sheath Malignant Glioma Malignant Hyperthermia Malignant Hyperthermia 1 Malignant Hyperthermia 2 Malignant Hyperthermia 3 Malignant Hyperthermia 4 Malignant Hyperthermia 5 Malignant Hyperthermia 6 Malignant Hyperthermia of Anesthesia Malignant Iris Melanoma Malignant Leptomeningeal Tumor Malignant Mediastinal Neurogenic Neoplasm Malignant Melanocytic Neoplasm of the Peripheral Nerve Sheath Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum Malignant Migrating Partial Seizures of Infancy Malignant Neoplasm of Acoustic Nerve Malignant Oculomotor Nerve Tumor Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation Malignant Triton Tumor Man1b1-Cdg Mandibulofacial Dysostosis, Guion-Almeida Type Mandibulofacial Dysostosis with Mental Retardation Manganese Poisoning Mannosidosis Mannosidosis, Alpha B, Lysosomal Mannosidosis, Beta a, Lysosomal Marburg Acute Multiple Sclerosis Marchiafava Bignami Disease Marcus Gunn Phenomenon Marden Walker Like Syndrome Marden-Walker Syndrome Marek Disease Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Mental Retardation Syndrome, Autosomal Marinesco-Sjogren-Like Syndrome Marinesco-Sjogren Syndrome Martsolf Syndrome Masa Syndrome Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia Mast Syndrome Maternally-Inherited Progressive External Ophthalmoplegia Maternally-Inherited Spastic Paraplegia Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 10 Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13 Maturity-Onset Diabetes of the Young, Type 14 Maturity-Onset Diabetes of the Young, Type 2 Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4 Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 9 Mbd5 Haploinsufficiency Mcdonough Syndrome Mcleod Syndrome Mechanical Strabismus Meckel Syndrome 12 Meckel Syndrome 13 Meckel Syndrome, Type 1 Meckel Syndrome, Type 10 Meckel Syndrome, Type 11 Meckel Syndrome, Type 2 Meckel Syndrome, Type 3 Meckel Syndrome, Type 4 Meckel Syndrome, Type 5 Meckel Syndrome, Type 6 Meckel Syndrome, Type 7 Meckel Syndrome, Type 8 Meckel Syndrome, Type 9 Med23 Median Neuropathy Median-Ulnar Nerve Communications Mediastinum Neuroblastoma Mediastinum Neurofibroma Medulloblastoma Medulloepithelioma Medullomyoblastoma Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation Megalencephaly Megalencephaly, Autosomal Dominant Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency Megalocornea-Intellectual Disability Syndrome Megalocornea-Mental Retardation Syndrome Mehmo Syndrome Meier-Gorlin Syndrome 1 Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3 Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5 Meier-Gorlin Syndrome 6 Meier-Gorlin Syndrome 7 Meier-Gorlin Syndrome 8 Melanocytic Psammomatous Mpnst Melanoma-Astrocytoma Syndrome Melanoma, Uveal Melanoma, Uveal 1 Melanoma, Uveal 2 Melanosis, Neurocutaneous Melanotic Medulloblastoma Melanotic Neuroectodermal Tumor Melkersson-Rosenthal Syndrome Melnick-Needles Syndrome Mend Syndrome Meningeal Melanocytoma Meningeal Melanoma Meningeal Melanomatosis Meninges Hemangiopericytoma Meninges Sarcoma Meningioma, Familial Meningioma, Radiation-Induced Meningitis Meningocele Meningococcal Meningitis Meningoencephalitis Meningothelial Meningioma Meningovascular Neurosyphilis Menkes Disease Mental and Growth Retardation with Amblyopia Mental Depression Mental Health Wellness 1 Mental Health Wellness 2 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Mental Retardation and Psoriasis Mental Retardation, Anterior Maxillary Protrusion, and Strabismus Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Dominant 20 Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 55, with Seizures Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 6, with or Without Seizures Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 15 Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Recessive 61 Mental Retardation, Buenos Aires Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Mental Retardation, Fra12a Type Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Mental Retardation Macrocephaly Coarse Facies Hypotonia Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation Short Stature Microcephaly Eye Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation Smith Fineman Myers Type Mental Retardation Syndrome, Belgian Type Mental Retardation Syndrome, Mietens-Weber Type Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome Mental Retardation with Language Impairment and with or Without Autistic Features Mental Retardation with Optic Atrophy, Deafness, and Seizures Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis Mental Retardation, X-Linked 100 Mental Retardation, X-Linked 101 Mental Retardation, X-Linked 102 Mental Retardation, X-Linked 103 Mental Retardation, X-Linked 104 Mental Retardation, X-Linked 105 Mental Retardation, X-Linked 106 Mental Retardation, X-Linked 12 Mental Retardation, X-Linked 21 Mental Retardation, X-Linked 23 Mental Retardation, X-Linked 42 Mental Retardation, X-Linked 49 Mental Retardation, X-Linked 50 Mental Retardation, X-Linked 53 Mental Retardation, X-Linked 61 Mental Retardation, X-Linked 73 Mental Retardation, X-Linked 92 Mental Retardation, X-Linked 96 Mental Retardation, X-Linked 97 Mental Retardation, X-Linked 98 Mental Retardation, X-Linked 99 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Mental Retardation, X-Linked, Associated with Fragile Site Fraxe Mental Retardation, X-Linked, Syndromic 13 Mental Retardation, X-Linked, Syndromic 17 Mental Retardation, X-Linked, Syndromic 32 Mental Retardation, X-Linked, Syndromic 33 Mental Retardation, X-Linked, Syndromic 34 Mental Retardation, X-Linked, Syndromic, 35 Mental Retardation, X-Linked, Syndromic 9 Mental Retardation, X-Linked, Syndromic, Bain Type Mental Retardation, X-Linked, Syndromic, Cabezas Type Mental Retardation, X-Linked, Syndromic, Christianson Type Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mental Retardation, X-Linked, Syndromic, Hedera Type Mental Retardation, X-Linked, Syndromic, Houge Type Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Mental Retardation, X-Linked, Syndromic, Nascimento Type Mental Retardation, X-Linked, Syndromic, Raymond Type Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type Mental Retardation, X-Linked, Syndromic, Turner Type Mental Retardation, X-Linked, Syndromic, Wu Type Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental Retardation, X-Linked, with Craniofacial Dysmorphism Mental Retardation, X-Linked, with or Without Seizures, Arx-Related Mental Retardation, X-Linked, with Panhypopituitarism Meralgia Paraesthetica, Familial Meralgia Paresthetica Merkel Cell Carcinoma Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration Metachromatic Leukodystrophy Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Juvenile Form Metachromatic Leukodystrophy, Late Infantile Form Metaphyseal Acroscyphodysplasia Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness Methionine Adenosyltransferase I/iii Deficiency Methylmalonic Acidemia and Homocysteinemia, Cblx Type Methylmalonic Aciduria and Homocystinuria, Cblc Type Methylmalonic Aciduria and Homocystinuria, Cbld Type Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type Microcephalic Osteodysplastic Primordial Dwarfism, Type I Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii Microcephalic Primordial Dwarfism, Montreal Type Microcephalic Primordial Dwarfism, Toriello Type Microcephaly Microcephaly 10, Primary, Autosomal Recessive Microcephaly 11, Primary, Autosomal Recessive Microcephaly 12, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive Microcephaly 1, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive Microcephaly 4, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive Microcephaly 6, Primary, Autosomal Recessive Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive Microcephaly 9, Primary, Autosomal Recessive Microcephaly, Amish Type Microcephaly and Chorioretinopathy 1 Microcephaly and Chorioretinopathy 2 Microcephaly and Chorioretinopathy 3 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 Microcephaly, Autosomal Dominant Microcephaly Brain Defect Spasticity Hypernatremia Microcephaly-Capillary Malformation Syndrome Microcephaly-Cardiomyopathy Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome Microcephaly Chorioretinopathy Recessive Form Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome Microcephaly-Deafness Syndrome Microcephaly-Digital Anomalies-Intellectual Disability Syndrome Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome Microcephaly, Macrotia, and Mental Retardation Microcephaly Microcornea Syndrome Seemanova Type Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome Microcephaly, Seizures, Spasticity, and Brain Calcifications Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures Microcephaly with Cervical Spine Fusion Anomalies Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia Microcephaly with Chorioretinopathy, Autosomal Dominant Form Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation Microcystic Meningioma Microdontia Hypodontia Short Stature Microform Holoprosencephaly Microhydranencephaly Microlissencephaly Microlissencephaly-Micromelia Syndrome Microphthalmia, Syndromic 1 Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11 Microphthalmia, Syndromic 12 Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 5 Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 8 Microphthalmia, Syndromic 9 Microscopic Polyangiitis Microvascular Complications of Diabetes 1 Microvascular Complications of Diabetes 2 Microvascular Complications of Diabetes 3 Microvascular Complications of Diabetes 4 Microvascular Complications of Diabetes 5 Microvascular Complications of Diabetes 6 Microvascular Complications of Diabetes 7 Micturation-Induced Seizures Middle Cranial Fossa Meningioma Middle Ear Adenocarcinoma Middle Ear Carcinoma Middle Ear Neuroendocrine Tumor Middle Ear Squamous Cell Carcinoma Midline Interhemispheric Variant of Holoprosencephaly Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2 Migraine, Familial Hemiplegic, 3 Migraine with Aura Migraine with Aura 7 Migraine with Aura 9 Migraine with Brainstem Aura Migraine with or Without Aura 1 Migraine Without Aura Mild Canavan Disease Mild Hyperphenylalaninemia Mild Phenylketonuria Miles-Carpenter Syndrome Miller-Dieker Lissencephaly Syndrome Miller Fisher Syndrome Minicore Myopathy with External Ophthalmoplegia Mirror Movements 1 Mirror Movements 2 Mirror Movements 3 Mismatch Repair Cancer Syndrome Mitochondrial Complex Ii Deficiency Mitochondrial Dna Depletion Syndrome 1 Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 4b Mitochondrial Dna Depletion Syndrome 5 Mitochondrial Dna Depletion Syndrome 6 Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 9 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Membrane Protein-Associated Neurodegeneration Mitochondrial Myopathy Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Mitochondrial Myopathy, Infantile, Transient Mitochondrial Myopathy with Diabetes Mitochondrial Myopathy with Lactic Acidosis Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial Non-Syndromic Sensorineural Deafness Mitochondrial Pyruvate Carrier Deficiency Mitochondrial Trifunctional Protein Deficiency Mixed Cell Uveal Melanoma Mixed Cerebral Palsy Mixed Connective Tissue Disease Mixed Cryoglobulinemia Type Iii Mixed Germ Cell Tumor of Central Nervous System Mixed Glioma Mixed Lacrimal Gland Cancer Miyoshi Muscular Dystrophy 1 Miyoshi Muscular Dystrophy 2 Miyoshi Muscular Dystrophy 3 Moderate and Severe Traumatic Brain Injury Moderately-Differentiated Thymic Neuroendocrine Carcinoma Modifier, X-Linked, for Neurofunctional Defects Moebius Axonal Neuropathy Hypogonadism Moebius Syndrome Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome Mohr Syndrome Molybdenum Cofactor Deficiency, Complementation Group a Molybdenum Cofactor Deficiency, Complementation Group B Molybdenum Cofactor Deficiency, Complementation Group C Momo Syndrome Monocular Esotropia Monocular Exotropia Monofixation Syndrome Mononeuritis Multiplex Mononeuritis of Lower Limb Mononeuritis of Upper Limb Mononeuritis of Upper Limb and Mononeuritis Multiplex Mononeuropathy Mononeuropathy of the Median Nerve, Mild Mosaic Monosomy X Motor Neuron Disease Motor Neuron Disease with Dementia and Ophthalmoplegia Motor Neuro-Ophthalmic Disorders Motor Neuropathy, Peripheral, with Dysautonomia Motor Peripheral Neuropathy Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita Movement Disease Mowat-Wilson Syndrome Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation Mowat-Wilson Syndrome Due to Monosomy 2q22 Moyamoya Disease 1 Moyamoya Disease 2 Moyamoya Disease 3 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism Moyamoya Disease 5 Moyamoya Disease 6 with Achalasia Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta Mucolipidosis Iii Gamma Mucolipidosis Iv Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Type 2, Attenuated Form Mucopolysaccharidosis Type 2, Severe Form Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb Mucopolysaccharidosis, Type Ix Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii Mulibrey Nanism Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism Multifocal Dystonia Multifocal Motor Neuropathy Multiminicore Disease Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly Multiple Acyl-Coa Dehydrogenase Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Multiple Cranial Nerve Palsy Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 and Type 2 Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iib Multiple Endocrine Neoplasia, Type Iv Multiple Mitochondrial Dysfunctions Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 2 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia Multiple Mitochondrial Dysfunctions Syndrome 3 Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5 Multiple Mucosal Neuroma Multiple Sclerosis Multiple Sclerosis 2 Multiple Sclerosis 3 Multiple Sclerosis 4 Multiple Sclerosis 5 Multiple Spinal Canal and Spinal Cord Meningioma Multiple Sulfatase Deficiency Multiple System Atrophy 1 Multiple System Atrophy, Cerebellar Type Multiple System Atrophy, Parkinsonian Type Multisystemic Smooth Muscle Dysfunction Syndrome Mungan Syndrome Muscle Disorders Muscle Eye Brain Disease Muscular Atrophy Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus Muscular Atrophy, Malignant Neurogenic Muscular Dystrophy Muscular Dystrophy, Becker Type Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Davignon-Chauveau Type Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Lmna-Related Muscular Dystrophy, Congenital, Megaconial Type Muscular Dystrophy, Congenital Merosin-Deficient, 1a Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers Muscular Dystrophy, Duchenne Type Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1h Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r Muscular Dystrophy, Limb-Girdle, Type 2w Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2z Muscular Dystrophy White Matter Spongiosis Musculocontractural Ehlers-Danlos Syndrome Myasthenia Gravis Myasthenia Gravis Congenital Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 15 Myasthenic Syndrome, Congenital, 16 Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19 Myasthenic Syndrome, Congenital, 1a, Slow-Channel Myasthenic Syndrome, Congenital, 1b, Fast-Channel Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 2a, Slow-Channel Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, 3a, Slow-Channel Myasthenic Syndrome, Congenital, 3b, Fast-Channel Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, 4a, Slow-Channel Myasthenic Syndrome, Congenital, 4b, Fast-Channel Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, 5 Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic Myasthenic Syndrome, Congenital, 8 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency Mycoplasma Encephalitis Myelinated Optic Nerve Fibers Myelitis Myelocystocele Myeloma, Multiple Myelomeningocele Myelopathy, Htlv-1-Associated Myhre Syndrome Myoclonic-Astastic Epilepsy Myoclonic Cerebellar Dyssynergia Myoclonic Epilepsy Associated with Ragged-Red Fibers Myoclonic Epilepsy, Familial Infantile Myoclonic Epilepsy in Non-Progressive Encephalopathies Myoclonic Epilepsy, Juvenile 3 Myoclonic Epilepsy, Juvenile 4 Myoclonic Epilepsy of Infancy Myoclonic Epilepsy of Lafora Myoclonus Myoclonus and Ataxia Myoclonus, Cerebellar Ataxia, and Deafness Myoclonus Epilepsy Myoclonus, Familial Cortical Myofibrillar Myopathy Myofibromatosis, Infantile, 1 Myofibromatosis, Infantile, 2 Myoglobinuria Myoglobinuria, Acute Recurrent, Autosomal Recessive Myoglobinuria, Autosomal Dominant Myoglobinuria Dominant Form Myoglobinuria, Recurrent Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2 Myopathy, Centronuclear, 3 Myopathy, Centronuclear, 4 Myopathy, Centronuclear, 5 Myopathy, Centronuclear, X-Linked Myopathy, Congenital, Compton-North Myopathy, Congenital, with Neuropathy and Deafness Myopathy, Distal, 1 Myopathy, Distal, 3 Myopathy, Distal, 4 Myopathy, Distal, 5 Myopathy, Distal, Infantile-Onset Myopathy, Distal, Tateyama Type Myopathy, Distal, with Anterior Tibial Onset Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome Myopathy, Isolated Mitochondrial, Autosomal Dominant Myopathy, Lactic Acidosis, and Sideroblastic Anemia Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2 Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related Myopathy, Myosin Storage, Autosomal Dominant Myopathy, Myosin Storage, Autosomal Recessive Myopathy, Proximal, and Ophthalmoplegia Myopathy, Scapulohumeroperoneal Myopathy, Spheroid Body Myopathy, Tubular Aggregate, 1 Myopathy, Tubular Aggregate, 2 Myopathy, Vacuolar, with Casq1 Aggregates Myopathy with Extrapyramidal Signs Myopathy with Hexagonally Cross-Linked Tubular Arrays Myopathy with Lactic Acidosis, Hereditary Myopathy, X-Linked, with Excessive Autophagy Myopathy, X-Linked, with Postural Muscle Atrophy Myosclerosis, Autosomal Recessive Myosin Storage Myopathy Myositis Myotonia Congenita Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive Myotonia, Potassium-Aggravated Myotonia with Skeletal Abnormalities and Mental Retardation Myotonic Disease Myotonic Dystrophy Myotonic Dystrophy 1 Myotonic Dystrophy 2 Myotubular Myopathy with Abnormal Genital Development Myxofibrosarcoma Myxopapillary Ependymoma Nance-Horan Syndrome Narcolepsy Narcolepsy 1 Narcolepsy 2 Narcolepsy 3 Narcolepsy 4 Narcolepsy 5 Narcolepsy 6 Narcolepsy 7 Nasal Cavity Olfactory Neuroblastoma Nasal Encephalocele Nasal Ganglioglioma Native American Myopathy Nebulin-Related Early-Onset Distal Myopathy Necrotic Uveal Melanoma Necrotizing Autoimmune Myopathy Nemaline Myopathy Nemaline Myopathy 1 Nemaline Myopathy 10 Nemaline Myopathy 11, Autosomal Recessive Nemaline Myopathy 2 Nemaline Myopathy 3 Nemaline Myopathy 4 Nemaline Myopathy 5 Nemaline Myopathy 6 Nemaline Myopathy 7 Nemaline Myopathy 8 Nemaline Myopathy 9 Neonatal Adrenoleukodystrophy Neonatal Brainstem Dysfunction Neonatal Glycine Encephalopathy Neonatal Hypoxic and Ischemic Brain Injury Neonatal Myasthenia Gravis Neonatal Period Electroclinical Syndrome Nerve Compression Syndrome Nerve Fibre Bundle Defect Nerve Growth Factor, Alpha Subunit Nerve Plexus Neoplasm Nerve Root Neoplasm Nervous System Cancer Nervous System Disease Nervous System Hibernoma Netherton Syndrome Neu-Laxova Syndrome 1 Neural Tube Defects Neuraminidase Deficiency Neurenteric Cyst Neurilemmoma Neurilemmoma of the Fifth Cranial Nerve Neurilemmomatosis Neuritis Neuroaspergillosis Neuroaxonal Dystrophy Neuroaxonal Dystrophy Renal Tubular Acidosis Neuroblastoma Neuroblastoma 2 Neuroblastoma 3 Neuroblastoma 4 Neuroblastoma 5 Neuroblastoma 6 Neuroblastoma 7 Neuroblastoma Breakpoint Family, Member 17, Pseudogene Neurodegeneration, Childhood-Onset, with Brain Atrophy Neurodegeneration Due to Cerebral Folate Transport Deficiency Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset Neurodegeneration with Brain Iron Accumulation Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 3 Neurodegeneration with Brain Iron Accumulation 4 Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 6 Neurodermatitis Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language Neurodevelopmental Disorder with Involuntary Movements Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language Neuroectodermal Endocrine Syndrome Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia Neuroendocrine Carcinoma of the Cervix Neuroendocrine Cell Hyperplasia of Infancy Neuroendocrine Tumor Neuroendocrine Tumor of the Anal Canal Neuroendocrine Tumor of the Appendix Neuroendocrine Tumor of the Colon Neurofaciodigitorenal Syndrome Neurofibroma Neurofibroma of Gallbladder Neurofibroma of Spinal Cord Neurofibroma of the Esophagus Neurofibroma of the Heart Neurofibromatosis, Familial Spinal Neurofibromatosis-Noonan Syndrome Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome Neurofibromatosis, Type I Neurofibromatosis, Type Ii Neurofibromatosis, Type Iii, Mixed Central and Peripheral Neurofibromatosis, Type Iv, of Riccardi Neurofibrosarcoma Neurogenic Arthropathy Neurogenic Bladder Neurogenic Bowel Neurogenic Hypertension Neurogenic Palpebral Tumor Neurogenic Thoracic Outlet Syndrome Neurohypophysis Granular Cell Tumor Neuroleptic Malignant Syndrome Neurological Consequences of Cytomegalovirus Infection Neurological Manifestations of Pompe Disease Neurologic Disease, Infantile Multisystem, with Osseous Fragility Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset Neuroma Neuroma Biliary Tract Neuromuscular Disease Neuromuscular Junction Disease Neuromyelitis Optica Neuromyelitis Optica Spectrum Disorder Neuromyotonia and Axonal Neuropathy, Autosomal Recessive Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid Lipofuscinosis Neuronal Interstitial Dysplasia Neuronal Intestinal Dysplasia Neuronal Intestinal Dysplasia, Type B Neuronal Intranuclear Inclusion Disease Neuronal Migration Disorders Neuronitis Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Iia Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, Type Iid Neuronopathy, Distal Hereditary Motor, Type Ix Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Viib Neuronopathy, Distal Hereditary Motor, Type Viii Neuropathy Neuropathy, Ataxia, and Retinitis Pigmentosa Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive Neuropathy, Congenital, with Arthrogryposis Multiplex Neuropathy, Hereditary Motor and Sensory, Okinawa Type Neuropathy, Hereditary Motor and Sensory, Russe Type Neuropathy, Hereditary Motor and Sensory, Type Via Neuropathy, Hereditary Motor and Sensory, Type Vib Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Ic Neuropathy, Hereditary Sensory and Autonomic, Type Iia Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux Neuropathy, Hereditary Sensory and Autonomic, Type V Neuropathy, Hereditary Sensory and Autonomic, Type Vi Neuropathy, Hereditary Sensory and Autonomic, Type Vii Neuropathy, Hereditary Sensory and Autonomic, Type Viii Neuropathy, Hereditary Sensory, Atypical Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie Neuropathy, Hereditary Sensory, Type if Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Neuropathy, Hereditary Sensory, X-Linked Neuropathy, Hereditary Thermosensitive Neuropathy, Hereditary, with Liability to Pressure Palsies Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration Neuropathy, Painful Neuropathy Sensory Spastic Paraplegia Neuropathy with Hearing Impairment Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine Neuroretinitis Neurosarcoidosis Neuroschistosomiasis Neurosyphilis Neurotic Disorder Neurotic Excoriation Neurotrophic Keratoconjunctivitis Neurotrophic Keratopathy Neurovisceral Storage Disease with Curvilinear Bodies Neutral Lipid Storage Disease with Myopathy Nicolaides-Baraitser Syndrome Niemann-Pick Disease Niemann-Pick Disease, Type a Niemann-Pick Disease, Type B Niemann-Pick Disease, Type C1 Niemann-Pick Disease, Type C2 Niemann-Pick Disease Type C, Adult Neurologic Onset Niemann-Pick Disease Type C, Juvenile Neurologic Onset Niemann-Pick Disease Type C, Late Infantile Neurologic Onset Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset Niemann-Pick Disease Type C, Severe Perinatal Form Nipah Virus Disease Nodular Medulloblastoma Nodular Neuronal Heterotopia Non 24 Hour Sleep Wake Disorder Nonaka Myopathy Nonarteritic Anterior Ischemic Optic Neuropathy Non-Central Nervous System-Localized Embryonal Carcinoma Non-Herpetic Acute Limbic Encephalitis Nonphotosensitive Trichothiodystrophy Nonprogressive Cerebellar Atxia with Mental Retardation Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy Non-Recovering Obstetric Brachial Plexus Lesion Nonsyndromic Deafness Nonsyndromic Holoprosencephaly Non-Syndromic X-Linked Intellectual Disability Noonan Syndrome 1 Noonan Syndrome 10 Noonan Syndrome 2 Noonan Syndrome 3 Noonan Syndrome 4 Noonan Syndrome 5 Noonan Syndrome 6 Noonan Syndrome 7 Noonan Syndrome 8 Noonan Syndrome 9 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia Norrie Disease Norse Nutritional Optic Neuropathy Nystagmus 2, Congenital, Autosomal Dominant Nystagmus 3, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant Nystagmus 7, Congenital, Autosomal Dominant Nystagmus, Congenital, Autosomal Recessive O'sullivan-Mcleod Syndrome Obsessive-Compulsive Disorder Obstructive Hydrocephalus Occipital Encephalocele Occipital Lobe Neoplasm Ocular Cancer Ocular Motility Disease Ocular Neuromyotonia Oculo-Cerebral Dysplasia Oculocerebrocutaneous Syndrome Oculogyric Crisis Oculomotor Nerve Paralysis Oculopalatocerebral Syndrome Oculopharyngeal Muscular Dystrophy Oculopharyngodistal Myopathy Oculorenocerebellar Syndrome Ohdo Syndrome Ohdo Syndrome, Maat-Kievit-Brunner Type Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant Ohdo Syndrome, Sbbys Variant Ohdo Syndrome, X-Linked Okur-Chung Neurodevelopmental Syndrome Olfactory Groove Meningioma Olfactory Nerve Disease Olfactory Nerve Neoplasm Olfactory Neural Tumor Olfactory Neuroblastoma Oligoastrocytoma Oligodendroglioma Oliver-Mcfarlane Syndrome Oliver Syndrome Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy Ii, Autosomal Recessive Olivopontocerebellar Atrophy V Omphalocele-Cleft Palate Syndrome, Lethal Open Iniencephaly Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria Opitz-Gbbb Syndrome Opitz Gbbb Syndrome, Type I Opitz Gbbb Syndrome, Type Ii Opitz-Kaveggia Syndrome Opsoclonus-Myoclonus Syndrome Optic Atrophy 1 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures Optic Atrophy 11 Optic Atrophy 2 Optic Atrophy 3, Autosomal Dominant Optic Atrophy 4 Optic Atrophy 5 Optic Atrophy 6 Optic Atrophy 7 with or Without Auditory Neuropathy Optic Atrophy 8 Optic Atrophy 9 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive Optic Atrophy-Peripheral Neuropathy-Developmental Delay Syndrome Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy Optic Disk Drusen Optic Nerve Astrocytoma Optic Nerve Disease Optic Nerve Glioma Optic Nerve Hypoplasia, Bilateral Optic Nerve Hypoplasia, Familial Bilateral Optic Nerve Neoplasm Optic Nerve Sheath Meningioma Optic Neuritis Optic Papillitis Optic Pathway Glioma Orgasm-Induced Seizures Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to Orofaciodigital Syndrome Orofaciodigital Syndrome 12 Orofaciodigital Syndrome 13 Orofaciodigital Syndrome I Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Ix Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Viii Orofaciodigital Syndrome X Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv Orofaciodigital Syndrome Xvi Oromandibular Dystonia Orthostatic Intolerance Ossification Anomalies-Psychomotor Developmental Delay Syndrome Osteolysis Syndrome, Recessive Osteopenia and Sparse Hair Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome Osteopetrosis Osteopetrosis and Infantile Neuroaxonal Dystrophy Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1 Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 5 Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8 Osteoporosis-Pseudoglioma Syndrome Osteosclerosis Abnormalities of Nervous System and Meninges Otopalatodigital Spectrum Disorders Otopalatodigital Syndrome Otopalatodigital Syndrome, Type I Otopalatodigital Syndrome, Type Ii Ovarian Large-Cell Neuroendocrine Carcinoma Ovary Neuroendocrine Neoplasm Overlap Myositis Pachygyria, Frontotemporal Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts Pacinian Tumor Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome Palant Cleft Palate Syndrome Pallister-Killian Syndrome Pallister W Syndrome Pancreatic Acth Hormone Producing Tumor Pancreatic and Cerebellar Agenesis Pancreatic Endocrine Carcinoma Pancreatic Neuroendocrine Tumor Pandas Panencephalitis, Subacute Sclerosing Papillary Glioneuronal Tumors Papillary Meningioma of the Cerebellum Papillary Tumor of the Pineal Region Papilledema Papilloma of Choroid Plexus Papillorenal Syndrome Paralytic Squint Paramyotonia Congenita of Von Eulenburg Paraneoplastic Neurologic Disorders Paraneoplastic Polyneuropathy Paraparetic Variant of Guillain-Barré Syndrome Parapharyngeal Meningioma Paraplegia Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome Parasagittal Meningioma Parenchymatous Neurosyphilis Parietal Encephalocele Parietal Lobe Ependymoma Parietal Lobe Neoplasm Parkinson-Dementia Syndrome Parkinson Disease 10 Parkinson Disease 11, Autosomal Dominant Parkinson Disease 12 Parkinson Disease 13, Autosomal Dominant Parkinson Disease 14, Autosomal Recessive Parkinson Disease 15, Autosomal Recessive Early-Onset Parkinson Disease 16 Parkinson Disease 17 Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset Parkinson Disease 1, Autosomal Dominant Parkinson Disease 20, Early-Onset Parkinson Disease 21 Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset Parkinson Disease 2, Autosomal Recessive Juvenile Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant Parkinson Disease 5, Autosomal Dominant Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 8, Autosomal Dominant Parkinson Disease, Late-Onset Parkinson Disease Type 9 Parkinsonism-Dystonia, Infantile Parkinsonism with Dementia of Guadeloupe Parkinsonism with Spasticity, X-Linked Paroxysmal Extreme Pain Disorder Paroxysmal Hemicrania Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome Partial Motor Epilepsy Partial Optic Atrophy Partial Sensory Epilepsy Partial Third-Nerve Palsy Partington X-Linked Mental Retardation Syndrome Passos-Bueno Syndrome Pathologic Nystagmus Pcdh19-Related Female-Limited Epilepsy Pediatric Acute-Onset Neuropsychiatric Syndrome Pediatric Arterial Ischemic Stroke Pediatric Cerebral Ependymoblastoma Pediatric Cns Choriocarcinoma Pediatric Cns Embryonal Cell Carcinoma Pediatric Extraocular Retinoblastoma Pediatric Infratentorial Ependymoblastoma Pediatric Infratentorial Ependymoma Pediatric Intraocular Retinoblastoma Pediatric Leptomeningeal Melanoma Pediatric Meningioma Pediatric Multiple Sclerosis Pediatric Supratentorial Ependymoma Pediatric Systemic Lupus Erythematosus Peho-Like Syndrome Peho Syndrome Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease, Classic Form Pelizaeus-Merzbacher Disease in Female Carriers Pelizaeus-Merzbacher Disease, Transitional Form Pelizaeus-Merzbacher-Like Disease Pellagra Pellagra-Like Syndrome Periocular Meningioma Periodic Paralysis with Later-Onset Distal Motor Neuropathy Periodic Paralysis with Transient Compartment-Like Syndrome Perioral Myoclonia with Absences Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral Nerve Schwannoma Peripheral Nervous System Disease Peripheral Nervous System Ganglioneuroblastoma Peripheral Nervous System Neoplasm Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Periventricular Leukomalacia Periventricular Nodular Heterotopia Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7 Peroneal Nerve, Accessory Deep Peroneal Nerve Paralysis Peroneal Neuropathy Peroxisomal Acyl-Coa Oxidase Deficiency Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder Peroxisome Biogenesis Disorder 10a Peroxisome Biogenesis Disorder 10b Peroxisome Biogenesis Disorder 11a Peroxisome Biogenesis Disorder 11b Peroxisome Biogenesis Disorder 12a Peroxisome Biogenesis Disorder 13a Peroxisome Biogenesis Disorder 14b Peroxisome Biogenesis Disorder 1a Peroxisome Biogenesis Disorder 1b Peroxisome Biogenesis Disorder 2a Peroxisome Biogenesis Disorder 2b Peroxisome Biogenesis Disorder 3a Peroxisome Biogenesis Disorder 3b Peroxisome Biogenesis Disorder 4a Peroxisome Biogenesis Disorder 4b Peroxisome Biogenesis Disorder 5a Peroxisome Biogenesis Disorder 5b Peroxisome Biogenesis Disorder 6a Peroxisome Biogenesis Disorder 6b Peroxisome Biogenesis Disorder 7a Peroxisome Biogenesis Disorder 7b Peroxisome Biogenesis Disorder 8a Peroxisome Biogenesis Disorder 8b Peroxisome Biogenesis Disorder 9b Perry Syndrome Persistent Idiopathic Facial Pain Peters-Plus Syndrome Petrous Apex Meningioma Pettigrew Syndrome Pfeiffer Kapferer Syndrome Pfeiffer Mayer Syndrome Pfeiffer-Palm-Teller Syndrome Phace Syndrome Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome Phelan-Mcdermid Syndrome Phenylketonuria Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate Kinase 1 Deficiency Phosphoribosylpyrophosphate Synthetase Superactivity Phosphoserine Aminotransferase Deficiency Phosphoserine Phosphatase Deficiency Photosensitive Epilepsy Pick Disease of Brain Piebald Trait with Neurologic Defects Pierpont Syndrome Pili Torti and Developmental Delay Pili Torti Developmental Delay Neurological Abnormalities Pilocytic Astrocytoma Pilocytic Astrocytoma of Cerebellum Pilomyxoid Astrocytoma Pilotto Syndrome Pinched Nerve Pineal Parenchymal Tumor of Intermediate Differenciation Pineoblastoma Pineocytoma Piriformis Syndrome Pitt-Hopkins-Like Syndrome Pitt-Hopkins-Like Syndrome 1 Pitt-Hopkins-Like Syndrome 2 Pitt-Hopkins Syndrome Pituicytoma Pituitary Stalk Interruption Syndrome Pituitary Stalk Meningioma Piussan Lenaerts Mathieu Syndrome Plantar Nerve Lesion Plasmacytoma Pleomorphic Xanthoastrocytoma Plexiform Neurofibroma Plexopathy Plexosarcoma Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pneumococcal Meningitis Poems Syndrome Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Pol Iii-Related Leukodystrophies Poliomyelitis Polyarteritis Nodosa Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polyendocrine-Polyneuropathy Syndrome Polyglucosan Body Myopathy 1 with or Without Immunodeficiency Polyglucosan Body Myopathy 2 Polyglucosan Body Neuropathy, Adult Form Polymicrogyria, Bilateral Frontoparietal Polymicrogyria, Bilateral Perisylvian, X-Linked Polymicrogyria, Bilateral Temporooccipital Polymyositis Polyneuropathy Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag Polyneuropathy Due to Drug Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Polyneuropathy in Collagen Vascular Disease Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome Polyradiculoneuropathy Polyradiculoneuropathy Associated with Igg/iga/igm Monoclonal Gammopathy Without Known Antibodies Polyradiculopathy Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy Pontine Tegmental Cap Dysplasia Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1 Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 11 Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 1b Pontocerebellar Hypoplasia, Type 1c Pontocerebellar Hypoplasia, Type 2a Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6 Pontocerebellar Hypoplasia, Type 7 Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 9 Poorly Differentiated Thymic Neuroendocrine Carcinoma Porencephaly Porencephaly 1 Porencephaly 2 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations Poretti-Boltshauser Syndrome Porphyria, Acute Hepatic Porphyria, Acute Intermittent Porphyria Variegata Postencephalitic Parkinson Disease Posterior Column Ataxia with Retinitis Pigmentosa Posterior Cortical Atrophy Posterior Foramen Magnum Meningioma Posterior Meningocele Posterior Uveal Melanoma Postpoliomyelitis Syndrome Post-Streptococcal Neurologic Disorders Postsynaptic Congenital Myasthenic Syndromes Posttransplant Acute Limbic Encephalitis Post-Traumatic Stress Disorder Post-Vaccinal Encephalitis Potocki-Lupski Syndrome Ppp2r5d-Related Intellectual Disability Prader-Willi Habitus, Osteopenia, and Camptodactyly Prader-Willi-Like Syndrome Due to a Point Mutation Prader-Willi Syndrome Prader-Willi Syndrome Due to Imprinting Mutation Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 Prader-Willi Syndrome Due to Translocation Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures Presynaptic Congenital Myasthenic Syndromes Prieto X-Linked Mental Retardation Syndrome Primary Aldosteronism, Seizures, and Neurologic Abnormalities Primary Angiitis of the Central Nervous System Primary Central Nervous System Lymphoma Primary Cerebellar Degeneration Primary Familial Brain Calcification Primary Hepatic Neuroendocrine Carcinoma Primary Lateral Sclerosis, Adult, 1 Primary Lateral Sclerosis, Juvenile Primary Localized Amyloidosis Primary Melanoma of the Central Nervous System Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome Primary Oculocerebral Lymphoma Primary Optic Atrophy Primary Orthostatic Hypotension Primary Orthostatic Tremor Primary Polyarteritis Nodosa Primary Progressive Apraxia of Speech Primary Progressive Freezing Gait Primary Progressive Multiple Sclerosis Primary Syphilis Primary Syringomyelia Primary Tethered Cord Syndrome Primitive Neuroectodermal Tumor of the Cervix Uteri Primitive Neuroectodermal Tumor of the Corpus Uteri Primrose Syndrome Prion Disease Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments Progeroid Syndrome, Neonatal Progressive Bulbar Palsy Progressive Cavitating Leukoencephalopathy Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 Progressive Multifocal Leukoencephalopathy Progressive Muscular Atrophy Progressive Myoclonic Epilepsy Type 5 Progressive Myoclonus Epilepsy Progressive Non-Fluent Aphasia Progressive Relapsing Multiple Sclerosis Progressive Supranuclear Palsy-Corticobasal Syndrome Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome Prolidase Deficiency Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome Prostate Cancer/brain Cancer Susceptibility Prostate Neuroendocrine Neoplasm Proteus-Like Syndrome Proteus Like Syndrome Mental Retardation Eye Defect Proteus Syndrome Protoplasmic Astrocytoma Proximal Spinal Muscular Atrophy Prp Systemic Amyloidosis Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness Psammomatous Meningioma Pseudobulbar Palsy Pseudocholinesterase Deficiency Pseudo-Gaucher Disease Pseudo-Torch Syndrome 1 Pseudo-Torch Syndrome 2 Pseudotrisomy 13 Syndrome Pseudo-Turner Syndrome Pseudouridinuria and Mental Defect Pseudoxanthoma Elasticum Psychogenic Movement Psychotic Disorder Pterygia, Mental Retardation, and Distinctive Craniofacial Features Pterygium Colli and Mental Retardation with Facial and Digital Anomalies Pterygium Colli Mental Retardation Digital Anomalies Ptosis-Syndactyly-Learning Difficulties Syndrome Pudendal Neuralgia Puerto Rican Infant Hypotonia Syndrome Pulmonary Large Cell Neuroendocrine Carcinoma Pulmonary Neuroendocrine Tumor Pura-Related Neurodevelopmental Disorders Pura Syndrome Pure Autonomic Failure Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Pyruvate Dehydrogenase E2 Deficiency Pyruvate Dehydrogenase E3-Binding Protein Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency Quadriplegia Rabies Radial Nerve Lesion Radial Neuropathy Radiation Myelitis Radiculopathy Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Rajab Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Rare Intellectual Disability Without Developmental Anomaly Rasmussen Encephalitis Rasmussen Subacute Encephalitis Ravine Syndrome Reardon Wilson Cavanagh Syndrome Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome Rectum Kaposi's Sarcoma Rectum Neuroendocrine Neoplasm Recurrent Hypersomnia Recurrent Idiopathic Neuroretinitis Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome Recurrent Peripheral Facial Palsy Reducing Body Myopathy Reflex Epilepsy Reflex Sympathetic Dystrophy Refsum Disease, Classic Relapsing-Remitting Multiple Sclerosis Renal Cell Carcinoma Associated with Neuroblastoma Renal Dysplasia-Limb Defects Syndrome Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation Renpenning Syndrome 1 Restless Legs Syndrome Reticular Perineurioma Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis Retinal Arteries, Tortuosity of Retinal Cancer Retinal Capillary Malformation Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome Retinal Hemangioblastoma Retinal Melanoma Retina Lymphoma Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Retinoblastoma Retinopathy Anemia Cns Anomalies Retinopathy Aplastic Anemia Neurological Abnormalities Retinopathy, Pigmentary, and Mental Retardation Retrocerebellar Cyst Retroperitoneal Neuroblastoma Rett Syndrome Rett Syndrome, Congenital Variant Reversible Cerebral Vasoconstriction Syndrome Revesz Syndrome Reye Syndrome Rhabdoid Cancer Rhabdoid Meningioma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Rhabdomyosarcoma Rhabdomyosarcoma 2 Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata, Type 1 Rhizomelic Chondrodysplasia Punctata, Type 2 Rhizomelic Chondrodysplasia Punctata, Type 3 Rhizomelic Chondrodysplasia Punctata, Type 5 Rhombencephalosynapsis Riboflavin Transporter Deficiency Riboflavin Transporter Deficiency Neuronopathy Ribose 5-Phosphate Isomerase Deficiency Richards-Rundle Syndrome Richieri-Costa/guion-Almeida Syndrome Riddle Syndrome Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal Rigid Spine Muscular Dystrophy 1 Ring Chromosome 1 Ring Chromosome 10 Ring Chromosome 11 Ring Chromosome 12 Ring Chromosome 13 Ring Chromosome 14 Syndrome Ring Chromosome 15 Ring Chromosome 16 Ring Chromosome 17 Ring Chromosome 18 Ring Chromosome 19 Ring Chromosome 2 Ring Chromosome 20 Ring Chromosome 21 Ring Chromosome 22 Ring Chromosome 3 Ring Chromosome 4 Ring Chromosome 5 Ring Chromosome 6 Ring Chromosome 7 Ring Chromosome 8 Ring Chromosome 9 Ring Chromosome Y Syndrome Rippling Muscle Disease 1 Rippling Muscle Disease 2 Rippling Muscle Disease with Myasthenia Gravis Ritscher-Schinzel Syndrome Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2 Rnase T2-Deficient Leukoencephalopathy Robin Sequence with Distinctive Facial Appearance and Brachydactyly Roifman Syndrome Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Rolandic Epilepsy-Speech Dyspraxia Syndrome Rosette-Forming Glioneuronal Tumor of Fourth Ventricule Roussy-Levy Hereditary Areflexic Dystasia Rubella Rubella Panencephalitis Rubinstein Taybi Like Syndrome Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2 Russell-Silver Syndrome, X-Linked Ruvalcaba Syndrome Sabinas Brittle Hair Syndrome Sacral Agenesis with Vertebral Anomalies Sacral Defect with Anterior Meningocele Sacral Meningocele Conotruncal Heart Defects Sacral Nerve Root Cysts Sacral Spinal Canal and Spinal Cord Meningioma Salih Myopathy Salla Disease Salt and Pepper Developmental Regression Syndrome Sammartino Decreccio Syndrome Sandhoff Disease Sandifer Syndrome Sarcoid Meningitis Sarcoidosis 1 Sarcoidosis 2 Sarcoidosis 3 Sarcomatosis of the Meninges Scalp Syndrome Scaphocephaly, Maxillary Retrusion, and Mental Retardation Scapuloperoneal Myopathy, Myh7-Related Scapuloperoneal Myopathy, X-Linked Dominant Scapuloperoneal Spinal Muscular Atrophy Scapuloperoneal Syndrome, Neurogenic, Kaeser Type Scarf Syndrome Schaaf-Yang Syndrome Scheie Syndrome Schimke X-Linked Mental Retardation Syndrome Schindler Disease Schindler Disease, Type I Schisis Association Schizencephaly Schizophrenia Schizophrenia 1 Schizophrenia 10 Schizophrenia 11 Schizophrenia 12 Schizophrenia 13 Schizophrenia 14 Schizophrenia 15 Schizophrenia 16 Schizophrenia 18 Schizophrenia 19 Schizophrenia 2 Schizophrenia 3 Schizophrenia 4 Schizophrenia 5 Schizophrenia 6 Schizophrenia 7 Schizophrenia 8 Schizophrenia 9 Scholte Syndrome Schuurs-Hoeijmakers Syndrome Schwannoma of Twelfth Cranial Nerve Schwartz-Jampel Syndrome, Type 1 Sciatic Neuropathy Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities Scleroderma, Familial Progressive Sclerosing Perineurioma Scott Bryant Graham Syndrome Scrapie Seaver Cassidy Syndrome Seckel Syndrome Seckel Syndrome 1 Seckel Syndrome 10 Seckel Syndrome 2 Seckel Syndrome 4 Seckel Syndrome 5 Seckel Syndrome 6 Seckel Syndrome 7 Seckel Syndrome 8 Seckel Syndrome 9 Secondary Acute Transverse Myelitis Secondary Polyarteritis Nodosa Secondary Progressive Multiple Sclerosis Secondary Syphilis Secondary Syringomyelia Secretory Meningioma Segawa Syndrome, Autosomal Recessive Segmental Dystonia Seizure Disorder Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2 Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4 Seizures, Benign Familial Infantile, 5 Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2 Seizures, Benign Familial Neonatal, 3 Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures Benign Familial Neonatal Recessive Form Seizures, Cortical Blindness, and Microcephaly Syndrome Seizures Mental Retardation Hair Dysplasia Seizures, Scoliosis, and Macrocephaly Syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Semilobar Holoprosencephaly Sener Syndrome Senile Degeneration of Brain Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Sensory Neuropathy Type 1 Sensory Peripheral Neuropathy Sensory System Cancer Septooptic Dysplasia Septopreoptic Holoprosencephaly Serotonin Syndrome Setbp1 Disorder Severe Canavan Disease Severe Congenital Nemaline Myopathy Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency Severe Infantile Axonal Neuropathy Severe Intellectual Disability and Progressive Spastic Paraplegia Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract Shaheen Syndrome Shapiro Syndrome Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome Short Stature, Developmental Delay, and Congenital Heart Defects Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly Shoulder Girdle Defect Mental Retardation Familial Shprintzen Omphalocele Syndrome Sickle Cell Anemia Sifrim-Hitz-Weiss Syndrome Silengo Lerone Pelizza Syndrome Simple Cryoglobulinemia Simple Partial Epilepsy Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel Syndrome, Type 1 Simpson-Golabi-Behmel Syndrome, Type 2 Singh Chhaparwal Dhanda Syndrome Single-Organ Polyarteritis Nodosa Sjogren-Larsson-Like Syndrome Sjogren-Larsson Syndrome Skeletal Defects, Genital Hypoplasia, and Mental Retardation Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal Skin Meningioma Sleep Disorder Slow-Channel Congenital Myasthenic Syndrome Slowed Nerve Conduction Velocity, Autosomal Dominant Small Cell Cancer of the Lung Small Cell Carcinoma of the Bladder Small Cell Lung Cancer, Adult Small Cell Neuroendocrine Carcinoma Small Intestinal Vasoactive Intestinal Peptide Producing Tumor Small Intestine Carcinoid Neuroendocrine Tumor Small Intestine Neuroendocrine Neoplasm Smith-Kingsmore Syndrome Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Sneddon Syndrome Sodium Channelopathy-Related Small Fiber Neuropathy Soft Tissue Peripheral Neuroepithelioma Solitary Median Maxillary Central Incisor Somatoform Disorder Sonoda Syndrome Spasmodic Dystonia Spastic Ataxia Spastic Ataxia 1 Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 2 Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3 Spastic Ataxia 3, Autosomal Recessive Spastic Ataxia 4 Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5 Spastic Ataxia 5, Autosomal Recessive Spastic Ataxia 7 Spastic Ataxia 7, Autosomal Dominant Spastic Ataxia, Charlevoix-Saguenay Type Spastic Cerebral Palsy Spastic Diplegia Spastic Diplegia and Mental Retardation Spastic Diplegia Cerebral Palsy Spastic Hemiplegia Spasticity, Childhood-Onset, with Hyperglycinemia Spastic Monoplegia Spastic Paralysis, Infantile-Onset Ascending Spastic Paraplegia 1 Spastic Paraplegia 10 Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11 Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 12 Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 14 Spastic Paraplegia 14, Autosomal Recessive Spastic Paraplegia 15 Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 16 Spastic Paraplegia 16, X-Linked Spastic Paraplegia 17 Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 18 Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 19 Spastic Paraplegia 19, Autosomal Dominant Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 23 Spastic Paraplegia 24 Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 25 Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 26 Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive Spastic Paraplegia 29 Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 2, X-Linked Spastic Paraplegia 3 Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 31 Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 32 Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 34, X-Linked Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 39 Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 3a Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4 Spastic Paraplegia 41, Autosomal Dominant Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 44, 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 4, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 51 Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive Spastic Paraplegia 5a Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 5b Spastic Paraplegia 6 Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 8 Spastic Paraplegia 8, Autosomal Dominant Spastic Paraplegia 9 Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation Spastic Paraplegia and Psychomotor Retardation with or Without Seizures Spastic Paraplegia, Ataxia, and Mental Retardation Spastic Paraplegia, Epilepsy, and Mental Retardation Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome Spastic Paraplegia Facial Cutaneous Lesions Spastic Paraplegia, Optic Atrophy, and Neuropathy Spastic Paraplegia-Paget Disease of Bone Syndrome Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paraplegia with Neuropathy and Poikiloderma Spastic Paraplegia with Precocious Puberty Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly Spatial Visualization, Aptitude for Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease Spina Bifida Aperta Spina Bifida Hypospadias Spinal Accessory Nerve Neoplasm Spinal and Bulbar Muscular Atrophy, X-Linked 1 Spinal Arachnoiditis Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome Spinal Bulbar Motor Neuropathy Spinal Canal and Spinal Cord Meningioma Spinal Canal Intradural Extramedullary Neoplasm Spinal Cancer Spinal Cord Astrocytoma Spinal Cord Dermoid Cyst Spinal Cord Disease Spinal Cord Ependymoma Spinal Cord Glioma Spinal Cord Infarction Spinal Cord Injury Spinal Cord Intramedullary Teratoma Spinal Cord Lipoma Spinal Cord Lymphoma Spinal Cord Melanoma Spinal Cord Neuroblastoma Spinal Cord Oligodendroglioma Spinal Cord Primitive Neuroectodermal Neoplasm Spinal Cord Sarcoma Spinal Meninges Cancer Spinal Meningioma Spinal Multifocal Clear Cell Meningioma Spinal Muscular Atrophy Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 Spinal Muscular Atrophy, Distal, X-Linked 3 Spinal Muscular Atrophy, Jokela Type Spinal Muscular Atrophy, Late-Onset, Finkel Type Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iii Spinal Muscular Atrophy, Type Iv Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Spinal Muscular Atrophy with Respiratory Distress Type 2 Spinal Muscular Atrophy, X-Linked 2 Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 42 Spinocerebellar Ataxia 43 Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 5 Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 8 Spinocerebellar Ataxia 9 Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia Autosomal Recessive 5 Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy Spinocerebellar Ataxia with Axonal Neuropathy Type 2 Spinocerebellar Ataxia with Dysmorphism Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy Spinocerebellar Ataxia, X-Linked 1 Spinocerebellar Ataxia, X-Linked 2 Spinocerebellar Ataxia, X-Linked 3 Spinocerebellar Ataxia, X-Linked 4 Spinocerebellar Ataxia, X-Linked 5 Spinocerebellar Degeneration and Corneal Dystrophy Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia Splenomegaly, Cytopenia, and Vision Loss Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects Split Spinal Cord Malformation Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration Spondyloepiphyseal Dysplasia Tarda with Mental Retardation Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation Spondylosis Spongiform Encephalopathy with Neuropsychiatric Features Spontaneous Intracranial Hypotension Spontaneous Ocular Nystagmus Sporadic Adult-Onset Ataxia of Unknown Etiology Sporadic Fetal Brain Disruption Sequence Sporadic Hemiplegic Migraine Sporadic Hyperekplexia Sporadic Infantile Bilateral Striatal Necrosis Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features Startle Epilepsy Status Epilepticus Steinfeld Syndrome Stiff-Person Syndrome St. Louis Encephalitis Stocco Dos Santos Syndrome Stocco Dos Santos X-Linked Mental Retardation Syndrome Stomatin-Deficient Cryohydrocytosis with Neurologic Defects Strabismus Streptococcal Meningitis Striatal Degeneration, Autosomal Dominant 1 Striatal Degeneration, Autosomal Dominant 2 Striatonigral Degeneration Striatonigral Degeneration, Childhood-Onset Striatonigral Degeneration, Infantile Stromme Syndrome Sturge-Weber Syndrome Subacute Cerebellar Degeneration Subacute Inflammatory Demyelinating Polyneuropathy Subcortical Band Heterotopia Sub-Cortical Nodular Heterotopia Subdural Empyema Subependymal Giant Cell Astrocytoma Subependymal Nodular Heterotopia Subependymoma Succinic Semialdehyde Dehydrogenase Deficiency Sucrosuria, Hiatus Hernia and Mental Retardation Sudanophilic Cerebral Sclerosis Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Sulfite Oxidase Deficiency, Isolated Sunct Headache Superficial Siderosis Superficial Siderosis of the Central Nervous System Suprabulbar Paresis, Congenital Supranuclear Palsy, Progressive, 1 Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3 Suprasellar Meningioma Supratentorial Cancer Supratentorial Primitive Neuroectodermal Tumor Supratentorial Primitive Neuroectodermal Tumors, Childhood Survival Motor Neuron Spinal Muscular Atrophy Susac Syndrome Sydenham Chorea Symmetrical Thalamic Calcifications Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers Syncope, Familial Vasovagal Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 14 Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability Abidi Type Syndromic X-Linked Intellectual Disability Cabezas Type Syndromic X-Linked Intellectual Disability Nascimento Type Syndromic X-Linked Intellectual Disability Raymond Type Syndromic X-Linked Intellectual Disability Shashi Type Syndromic X-Linked Intellectual Disability Siderius Type Syndromic X-Linked Intellectual Disability Snyder Type Syndromic X-Linked Intellectual Disability Turner Type Syndromic X-Linked Intellectual Disability Type 10 Syngap1-Related Intellectual Disability Syngap1-Related Non-Syndromic Intellectual Disability Synucleinopathy Syphilis Syphilitic Encephalitis Syphilitic Meningitis Syringomyelia Systemic Polyarteritis Nodosa Systemic Scleroderma Tabes Dorsalis Tactile Epilepsy Takenouchi-Kosaki Syndrome Tangier Disease Tapetoretinal Degeneration with Ataxia Tardive Dyskinesia Tarlov Cysts Tarsal Tunnel Syndrome Tatton-Brown-Rahman Syndrome Tay-Sachs Disease Tay-Sachs Disease, B1 Variant Tay-Sachs Disease, B Variant, Adult Form Tay-Sachs Disease, B Variant, Infantile Form Tay-Sachs Disease, B Variant, Juvenile Form Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2 Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4 Telangiectasia, Hereditary Hemorrhagic, Type 5 Telfer Sugar Jaeger Syndrome Temple-Baraitser Syndrome Temple Syndrome Temporal Arteritis Temporal Lobe Epilepsy Temporal Lobe Neoplasm Temtamy Preaxial Brachydactyly Syndrome Temtamy Syndrome Tertiary Neurosyphilis Tetanus Tethered Cord Syndrome Tethered Spinal Cord Syndrome Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria Tetrasomy 15q26 Thalamic Neoplasm Thiamine Metabolism Dysfunction Syndrome 2 Thiamine Metabolism Dysfunction Syndrome 4 Thiamine Metabolism Dysfunction Syndrome 5 Thinking Seizures Third Cranial Nerve Disease Third Ventricle Chordoid Glioma Thoracic Dysplasia-Hydrocephalus Syndrome Thoracic Spinal Canal and Spinal Cord Meningioma Thoracolumbosacral Spina Bifida Aperta Thoracolumbosacral Spina Bifida Cystica Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness Thumb Stiff Brachydactyly Mental Retardation Thymic Neuroendocrine Carcinoma Thymic Neuroendocrine Tumor Thymus Clear Cell Carcinoma Thymus Large Cell Carcinoma Thymus Small Cell Carcinoma Thyrotoxic Periodic Paralysis Thyrotoxic Periodic Paralysis 1 Thyrotoxic Periodic Paralysis 2 Thyrotoxic Periodic Paralysis 3 Tièche-Jadassohn Nevus Tibial Muscular Dystrophy, Tardive Tibial Nerve Palsy Tibial Neuropathy Tick-Borne Encephalitis Tietz Albinism-Deafness Syndrome Tolosa-Hunt Syndrome Tonoki Syndrome Torch Syndrome Torsion Dystonia 17 Torsion Dystonia 2 Torsion Dystonia 4 Torsion Dystonia with Onset in Infancy Total Internal Ophthalmoplegia Total Spina Bifida Aperta Total Spina Bifida Cystica Total Third-Nerve Palsy Toxic Encephalopathy Toxic Optic Neuropathy Toxin-Mediated Infectious Botulism Toxoplasmoză Tranebjaerg Svejgaard Syndrome Transient Global Amnesia Transient Hyperammonemia of the Newborn Transient Neonatal Myasthenia Gravis Transitional Meningioma Transverse Myelitis Traumatic Brain Injury Tremor Tremor, Hereditary Essential, 1 Tremor, Hereditary Essential, 2 Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4 Tremor, Hereditary Essential, 5 Tremor, Nystagmus, and Duodenal Ulcer Trichinosis Trichorhinophalangeal Syndrome Trichorhinophalangeal Syndrome Type 1 and 3 Trichorhinophalangeal Syndrome, Type I Trichorhinophalangeal Syndrome, Type Ii Trichorhinophalangeal Syndrome, Type Iii Trichothiodystrophy 1, Photosensitive Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive Trichothiodystrophy 4, Nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive Trichothiodystrophy 6, Nonphotosensitive Trigeminal Nerve Disease Trigeminal Nerve Neoplasm Trigeminal Neuralgia Trigonocephaly with Short Stature and Developmental Delay Triosephosphate Isomerase Deficiency Trochlear Nerve Disease Trochlear Nerve Neoplasm Tropical Spastic Paraparesis Tuberous Sclerosis Tuberous Sclerosis 1 Tuberous Sclerosis 2 Tubulinopathy-Associated Dysgyria Tucker Syndrome Tukel Syndrome Tumefactive Multiple Sclerosis Tumor of Cranial and Spinal Nerves Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies Type Ii Mixed Cryoglobulinemia Typical Congenital Nemaline Myopathy Tyrosinemia Tyrosinemia, Type I Tyrosinemia, Type Ii Tyrosinemia, Type Iii Ullrich Congenital Muscular Dystrophy 1 Ullrich Congenital Muscular Dystrophy 2 Ulna Hypoplasia-Intellectual Disability Syndrome Ulnar Hypoplasia with Mental Retardation Ulnar Nerve Lesion Ulnar Neuropathy Undetermined Early-Onset Epileptic Encephalopathy Unilateral Focal Polymicrogyria Unilateral Hemispheric Polymicrogyria Unilateral Polymicrogyria Unilateral Retinoblastoma Unverricht-Lundborg Syndrome Upper Clivus Meningioma Upper Thoracic Spina Bifida Aperta Upper Thoracic Spina Bifida Cystica Uremic Neuropathy Urinary Bladder Small Cell Neuroendocrine Carcinoma Urocanase Deficiency Urofacial Syndrome 1 Urofacial Syndrome 2 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveal Epithelioid Cell Melanoma Vacterl with Hydrocephalus Vacuolar Neuromyopathy Vagus Nerve Disease Vagus Nerve Neoplasm Van Benthem-Driessen-Hanveld Syndrome Van Den Bosch Syndrome Van Maldergem Syndrome 1 Variably Protease-Sensitive Prionopathy Vascular Disease Vascular Myelopathy Vasculitis Syndromes of the Central and Peripheral Nervous Systems Vasoproliferative Tumor of the Retina Vein of Galen Aneurysm Velocardiofacial Syndrome Ventriculomegaly with Cystic Kidney Disease Vertebrobasilar Insufficiency Vestibular Neuronitis Vestibulocochlear Nerve Disease Vici Syndrome Viljoen Kallis Voges Syndrome Viral Encephalitis Viral Labyrinthitis Viral Meningitis Viral Myositis Visceral Myopathy Visceral Myopathy, Familial, with External Ophthalmoplegia Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome Visceral Neuropathy Familial Visceral Neuropathy, Familial, Autosomal Dominant Visceral Neuropathy, Familial, Autosomal Recessive Visual Epilepsy Vitamin E, Familial Isolated Deficiency of Vitiligo, Progressive, with Mental Retardation and Urethral Duplication Vogt-Koyanagi-Harada Disease Von Economo's Disease Von Hippel-Lindau Syndrome Waardenburg's Syndrome Waardenburg Syndrome, Type 1 Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e Waardenburg Syndrome, Type 3 Waardenburg Syndrome Type 4 Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c Waisman Syndrome Waldenstrom Macroglobulinemia Walker Dyson Syndrome Walker-Warburg Syndrome Warburg Micro Syndrome Warburg Micro Syndrome 1 Warburg Micro Syndrome 2 Warburg Micro Syndrome 3 Warburg Micro Syndrome 4 Weaver Syndrome Wegener Granulomatosis Welander Distal Myopathy Well-Differentiated Thymic Neuroendocrine Carcinoma Wernicke Encephalopathy Western Equine Encephalitis West Nile Virus West Syndrome Whipple Disease White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome White-Sutton Syndrome Wieacker-Wolff Syndrome Wiedemann Oldigs Oppermann Syndrome Wiedemann-Steiner Syndrome Williams-Beuren Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Wilson Disease Wilson-Turner X-Linked Mental Retardation Syndrome Witteveen-Kolk Syndrome Wolff Mental Retardation Syndrome Woodhouse-Sakati Syndrome Woods Syndrome Wound Botulism Wrinkly Skin Syndrome Wyburn Mason's Syndrome Xia-Gibbs Syndrome Xk Aprosencephaly X-Linked Charcot-Marie-Tooth Disease X-Linked Complicated Spastic Paraplegia Type 1 X-Linked Dominant Intellectual Disability-Epilepsy Syndrome X-Linked Hereditary Ataxia X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness X-Linked Intellectual Disability, Abidi Type X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome X-Linked Intellectual Disability, Cilliers Type X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome X-Linked Intellectual Disability, Golabi-Ito-Hall Type X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome X-Linked Intellectual Disability, Najm Type X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability-Plagiocephaly Syndrome X-Linked Intellectual Disability, Porteous Type X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome X-Linked Intellectual Disability, Schimke Type X-Linked Intellectual Disability, Seemanova Type X-Linked Intellectual Disability, Shashi Type X-Linked Intellectual Disability - Short Stature - Obesity X-Linked Intellectual Disability, Siderius Type X-Linked Intellectual Disability, Stevenson Type X-Linked Intellectual Disability, Stoll Type X-Linked Intellectual Disability, Van Esch Type X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club X-Linked Neurodegenerative Syndrome, Bertini Type X-Linked Neurodegenerative Syndrome, Hamel Type X-Linked Non-Specific Intellectual Disability X-Linked Nonsyndromic Deafness X-Linked Non-Syndromic Sensorineural Deafness Type Dfn X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome Xp22.13p22.2 Duplication Syndrome Xylt1-Cdg Yolk Sac Tumor of Central Nervous System You-Hoover-Fong Syndrome Yuan-Harel-Lupski Syndrome Zazam Sheriff Phillips Syndrome Zebra Body Myopathy Zechi-Ceide Syndrome Zellweger-Like Syndrome Without Peroxisomal Anomalies Zerres Rietschel Majewski Syndrome Zimmermann-Laband Syndrome Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2 Zlotogora Syndrome Zttk Syndrome