Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
Spinocerebellar Ataxia Type 2 |
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Kinetic tremor, Postural tremor, Chorea, Spinal cord posterior columns myelin loss, Gait ataxia, ... |
ORPHA:98756 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Trigeminal Neuralgia |
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Somatic sensory dysfunction, Paresthesia, Allodynia, Depression |
ORPHA:221091 |
Complex Regional Pain Syndrome |
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Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia |
ORPHA:83452 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Allodynia |
ORPHA:51890 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
O'Sullivan-Mcleod Syndrome |
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Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Somatic sensory d... |
ORPHA:99965 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... |
ORPHA:88628 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Abnormal spinal cord morphology, Impaired pain sensation |
ORPHA:139578 |
Immunodeficiency 108 With Autoinflammation |
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Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Keratoderma Hereditarium Mutilans |
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Self-injurious behavior, Abnormal spinal cord morphology |
ORPHA:494 |
Neurotrophic Keratopathy |
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Allodynia, Hyperesthesia |
ORPHA:137596 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Acute Disseminated Encephalomyelitis |
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Somatic sensory dysfunction, Ataxia, Aggressive behavior, Abnormal spinal cord morphology, Irrita... |
ORPHA:83597 |
Spinal Arteriovenous Metameric Syndrome |
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Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Hypoesthesia, Allodynia, Distal sensory impairment, Dysphagia |
OMIM:603041 |
X-Linked Cerebral Adrenoleukodystrophy |
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Hyperactivity, Ataxia, Myelopathy, Abnormal spinal cord morphology, Dysmetria, Dysphagia |
ORPHA:139396 |
Superficial Siderosis |
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Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of the spinal cord, Abno... |
ORPHA:247245 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology |
ORPHA:83468 |
Adrenomyeloneuropathy |
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Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Distal sensory impairme... |
ORPHA:139399 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Spinal cord tumo... |
ORPHA:353281 |
Amoebiasis Due To Free-Living Amoebae |
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Irritability, Abnormal spinal cord morphology, Ataxia, Restlessness |
ORPHA:68 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology, Chorea, Somatic sensory dysfunction, Depression |
ORPHA:289390 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology |
ORPHA:1724 |
Tetrasomy 9P |
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Hyperactivity, Abnormal spinal cord morphology, Inappropriate behavior |
ORPHA:3310 |
Limb Body Wall Complex |
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Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |