Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Specific Granule Deficiency 1 |
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Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Spastic Paraplegia 25, Autosomal Recessive |
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Spinal cord compression |
OMIM:608220 |
Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency 108 With Autoinflammation |
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Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Craniofacial Conodysplasia |
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Spinal cord compression |
ORPHA:85168 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... |
OMIM:618986 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Progressive Supranuclear Palsy |
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Memory impairment, Depression, Falls, Emotional lability, Irritability, Cognitive impairment, Dem... |
ORPHA:683 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Myelopathy, Spinal cord compression |
OMIM:602475 |
Immunodeficiency 32B |
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Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Neurofibrillary tangles |
DECIPHER:48 |
Alzheimer Disease 2 |
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Neurofibrillary tangles |
OMIM:104310 |
Necrobiosis Lipoidica |
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Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Spinal cord compression |
OMIM:251250 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum... |
ORPHA:811 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... |
ORPHA:158061 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Alzheimer Disease, Familial, 1 |
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Neurofibrillary tangles |
OMIM:104300 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
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Neurofibrillary tangles |
OMIM:605055 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Say-Barber-Miller Syndrome |
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Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... |
ORPHA:540 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
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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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... |
OMIM:618935 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... |
ORPHA:178320 |
Chediak-Higashi Syndrome |
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Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... |
ORPHA:3243 |
Aggressive Systemic Mastocytosis |
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Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
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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Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Leukocyte Adhesion Deficiency |
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Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
Alzheimer Disease 9, Susceptibility To |
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Neurofibrillary tangles |
OMIM:608907 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Abnormal spinal cord morphology |
ORPHA:139578 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233690 |
Keratoderma Hereditarium Mutilans |
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Abnormal spinal cord morphology |
ORPHA:494 |
Spongiform Encephalopathy With Neuropsychiatric Features |
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Neurofibrillary tangles |
OMIM:606688 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Abnormal spinal cord morphology |
ORPHA:99947 |
Granulomatous Disease, Chronic, X-Linked |
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Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:306400 |
Spinal Arteriovenous Metameric Syndrome |
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Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology |
ORPHA:83468 |
Alzheimer Disease 4 |
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Neurofibrillary tangles |
OMIM:606889 |
Alzheimer Disease 3 |
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Neurofibrillary tangles |
OMIM:607822 |
Interstitial Cystitis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:37202 |
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 |
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 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neurofibrillary tangles |
OMIM:607485 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Gerstmann-Straussler Disease |
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Neurofibrillary tangles |
OMIM:137440 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
Niemann-Pick Disease, Type C1 |
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Neurofibrillary tangles |
OMIM:257220 |
Acute Disseminated Encephalomyelitis |
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Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
X-Linked Cerebral Adrenoleukodystrophy |
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Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
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 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Adult-Onset Dystonia-Parkinsonism |
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Neurofibrillary tangles |
ORPHA:199351 |
Supranuclear Palsy, Progressive, 2 |
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Neurofibrillary tangles |
OMIM:609454 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal spinal cord morphology |
ORPHA:68 |
Supranuclear Palsy, Progressive, 1 |
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Neurofibrillary tangles |
OMIM:601104 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology |
ORPHA:1724 |
Limb Body Wall Complex |
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Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida |
ORPHA:2369 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology |
ORPHA:289390 |
Tetrasomy 9P |
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Abnormal spinal cord morphology |
ORPHA:3310 |