Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Pandas |
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Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... |
ORPHA:66624 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ... |
ORPHA:99947 |
Trigeminal Neuralgia |
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Depression, Paresthesia, Somatic sensory dysfunction, Allodynia |
ORPHA:221091 |
Spinocerebellar Ataxia Type 2 |
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Spinal cord posterior columns myelin loss, Abnormality of the spinocerebellar tracts, Chorea, Pos... |
ORPHA:98756 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Specific Granule Deficiency 1 |
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Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Complex Regional Pain Syndrome |
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Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia |
ORPHA:83452 |
Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Exaggerated startle response, Dys... |
ORPHA:309246 |
Spinal Cord Injury |
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Somatic sensory dysfunction, Syringomyelia, Spinal cord lesion, Dysesthesia, Allodynia |
ORPHA:90058 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Hyperesthesia, Somatic sensory dysfunction, Impaired tactile sensation, Anorexia, Allodynia |
ORPHA:51890 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera... |
ORPHA:3077 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Aggressive Systemic Mastocytosis |
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Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
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, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
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 |
Pudendal Neuralgia |
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Paresthesia, Allodynia |
ORPHA:60039 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Truncal titubation, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ... |
ORPHA:88628 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Impaired pain sensation, Abnormal spinal cord morphology |
ORPHA:139578 |
Immunodeficiency 108 With Autoinflammation |
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Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Keratoderma Hereditarium Mutilans |
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Self-injurious behavior, Abnormal spinal cord morphology |
ORPHA:494 |
Neurotrophic Keratopathy |
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Hyperesthesia, Allodynia |
ORPHA:137596 |
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 |
Chédiak-Higashi Syndrome |
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Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
Acute Disseminated Encephalomyelitis |
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Myelitis, Somatic sensory dysfunction, Irritability, Aggressive behavior, Abnormal spinal cord mo... |
ORPHA:83597 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Hypoesthesia, Dysphagia, Distal sensory impairment, Allodynia |
OMIM:603041 |
Spinal Arteriovenous Metameric Syndrome |
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Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
X-Linked Cerebral Adrenoleukodystrophy |
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Myelopathy, Dysmetria, Abnormal spinal cord morphology, Hyperactivity, Ataxia, Dysphagia |
ORPHA:139396 |
Superficial Siderosis |
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Impaired pain sensation, Impaired temperature sensation, Paresthesia, Limb ataxia, Dysmetria, Pro... |
ORPHA:247245 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology |
ORPHA:83468 |
Adrenomyeloneuropathy |
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Distal sensory impairment, Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spina... |
ORPHA:139399 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cervical cord compre... |
ORPHA:353281 |
Amoebiasis Due To Free-Living Amoebae |
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Restlessness, Irritability, Abnormal spinal cord morphology, Ataxia |
ORPHA:68 |
Primary Sjögren Syndrome |
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Chorea, Depression, Abnormal spinal cord morphology, Somatic sensory dysfunction |
ORPHA:289390 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cervical cord compre... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cervical cord compre... |
ORPHA:353277 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology |
ORPHA:1724 |
Tetrasomy 9P |
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Inappropriate behavior, Abnormal spinal cord morphology, Hyperactivity |
ORPHA:3310 |
Limb Body Wall Complex |
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Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida |
ORPHA:2369 |