Familial Alzheimer-Like Prion Disease |
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Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Spastic Paraplegia 25, Autosomal Recessive |
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Spinal cord compression |
OMIM:608220 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Alzheimer Disease 2 |
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Long-tract signs, Neurofibrillary tangles |
OMIM:104310 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Apathy, Anxiety, Inappropriate behavior, Falls, Memory impairment, Abnormal neuron morphology, Mo... |
ORPHA:412066 |
Craniofacial Conodysplasia |
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Spinal cord compression |
ORPHA:85168 |
Alzheimer Disease, Familial, 1 |
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Long-tract signs, Neurofibrillary tangles |
OMIM:104300 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Creutzfeldt-Jakob Disease |
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Apathy, Depression, Anxiety, Memory impairment, Gait ataxia, Irritability, Dementia |
OMIM:123400 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment |
ORPHA:401901 |
Huntington Disease-Like 1 |
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Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Progressive Supranuclear Palsy |
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Impulsivity, Cognitive impairment, Depression, Falls, Memory impairment, Unsteady gait, Abnormal ... |
ORPHA:683 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Myelopathy, Spinal cord compression |
OMIM:602475 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis, Neurofibrillary tangles |
OMIM:619132 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Neurofibrillary tangles |
DECIPHER:48 |
Necrobiosis Lipoidica |
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Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... |
ORPHA:811 |
Early-Onset Schizophrenia |
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Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Pandas |
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Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Macrophage Activation Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Indolent Systemic Mastocytosis |
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Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98848 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
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Neurofibrillary tangles |
OMIM:605055 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... |
OMIM:618935 |
Chediak-Higashi Syndrome |
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Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Acute Lung Injury |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Leukocyte Adhesion Deficiency |
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Abnormality of neutrophil physiology, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis,... |
ORPHA:2968 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Alzheimer Disease 9, Susceptibility To |
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Neurofibrillary tangles |
OMIM:608907 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Abnormality of the spinal cord |
ORPHA:139578 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
OMIM:233710 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst |
OMIM:233690 |
Keratoderma Hereditarium Mutilans |
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Abnormality of the spinal cord |
ORPHA:494 |
Granulomatous Disease, Chronic, X-Linked |
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Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Granuloma, Liver abscess |
OMIM:306400 |
Spinal Arteriovenous Metameric Syndrome |
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Abnormality of the spinal cord, Spinal arteriovenous malformation |
ORPHA:53721 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Abnormality of the spinal cord |
ORPHA:99947 |
Solitary Bone Cyst |
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Abnormality of the spinal cord |
ORPHA:83468 |
Alzheimer Disease 3 |
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Neurofibrillary tangles |
OMIM:607822 |
Mastocytosis |
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Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Alzheimer Disease 4 |
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Neurofibrillary tangles |
OMIM:606889 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Neurofibrillary tangles |
OMIM:616840 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles |
OMIM:117300 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neurofibrillary tangles |
OMIM:607485 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Neurofibrillary tangles |
ORPHA:1020 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis |
ORPHA:79318 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Gerstmann-Straussler Disease |
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Neurofibrillary tangles |
OMIM:137440 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormality of the spinal cord |
ORPHA:88628 |
Niemann-Pick Disease, Type C1 |
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Neurofibrillary tangles |
OMIM:257220 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormality of the spinal cord |
ORPHA:139399 |
Acute Disseminated Encephalomyelitis |
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Myelitis, Abnormality of the spinal cord |
ORPHA:83597 |
Niemann-Pick Disease, Type C2 |
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Neurofibrillary tangles |
OMIM:607625 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Neurofibrillary tangles |
OMIM:610217 |
X-Linked Cerebral Adrenoleukodystrophy |
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Myelopathy, Abnormality of the spinal cord |
ORPHA:139396 |
Adult-Onset Dystonia-Parkinsonism |
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Neurofibrillary tangles |
ORPHA:199351 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormality of the spinal cord |
ORPHA:247245 |
Supranuclear Palsy, Progressive, 2 |
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Neurofibrillary tangles |
OMIM:609454 |
Supranuclear Palsy, Progressive, 1 |
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Neurofibrillary tangles |
OMIM:601104 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormality of the spinal cord |
ORPHA:68 |
Limb Body Wall Complex |
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Myelomeningocele, Spina bifida, Abnormality of the spinal cord, Spina bifida occulta |
ORPHA:2369 |
Mosaic Trisomy 20 |
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Abnormality of the spinal cord |
ORPHA:1724 |
Primary Sjögren Syndrome |
|
Abnormality of the spinal cord |
ORPHA:289390 |
Tetrasomy 9P |
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Abnormality of the spinal cord |
ORPHA:3310 |