Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Myofibromatosis, Infantile, 1 |
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Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 4 |
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Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Deafness, Autosomal Recessive 104 |
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Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Multiple Fibroadenomas Of The Breast |
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Fibroadenoma of the breast |
OMIM:615554 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
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Chondrosarcoma |
OMIM:215300 |
Enchondromatosis, Multiple, Ollier Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Multiple Enchondromatosis, Maffucci Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Immunodeficiency 35 |
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Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, Common Variable, 4 |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Acquired Ichthyosis |
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Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Colorectal Cancer, Susceptibility To, 12 |
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Carcinoma |
OMIM:615083 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma |
ORPHA:2023 |
Dermatofibrosarcoma Protuberans |
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Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Immunodeficiency, Common Variable, 3 |
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Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Ollier Disease |
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Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Paraneoplastic Pemphigus |
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B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Progressive Osseous Heteroplasia |
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Sarcoma |
ORPHA:2762 |
Large Congenital Melanocytic Nevus |
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Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Infantile Myofibromatosis |
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Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mast Cell Sarcoma |
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Sarcoma |
ORPHA:66661 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... |
ORPHA:494444 |
Liposarcoma |
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Sarcoma |
ORPHA:69078 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Skin rash, Abnormal auditory evoked potentials |
OMIM:617523 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Rhabdoid Tumor |
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Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Thrombocyt... |
ORPHA:540 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... |
ORPHA:158061 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... |
OMIM:618394 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis, Hypochromic microcy... |
ORPHA:3240 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Werner Syndrome |
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Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Neurofibromatosis, Type I |
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Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Basal Cell Nevus Syndrome 2 |
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Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Yellow Nail Syndrome |
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Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma |
ORPHA:662 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Chronic Bilirubin Encephalopathy |
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Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Retinoblastoma |
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Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Acromesomelic Dysplasia, Grebe Type |
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Sarcoma |
ORPHA:2098 |
Desmoid Tumor |
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Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
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Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
Ovarian Fibrothecoma |
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Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma |
ORPHA:314478 |
Tuberous Sclerosis 2 |
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Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Decreased c... |
ORPHA:79330 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Retinoblastoma |
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Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Attenuated Familial Adenomatous Polyposis |
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Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Uveitis, Anemia, Conjunctivitis, Macrotia, Ab... |
ORPHA:90321 |
Terminal Osseous Dysplasia |
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Fibroma |
OMIM:300244 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Benign Schwannoma |
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Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Neurofibrosarcoma |
ORPHA:252164 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Milroy Disease |
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Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
17Q11 Microdeletion Syndrome |
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Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Neurofibromatosis Type 1 |
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Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Monosomy 22 |
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Gonadal neoplasm, Schwannoma, Meningioma, Sarcoma |
ORPHA:96123 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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Fibroma |
OMIM:619750 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... |
ORPHA:201 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... |
ORPHA:276152 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... |
ORPHA:99880 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr... |
ORPHA:143 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Fanconi Anemia, Complementation Group E |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Noonan Syndrome 1 |
|
Neurofibrosarcoma, Juvenile myelomonocytic leukemia |
OMIM:163950 |
Fanconi Anemia, Complementation Group A |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Aicardi Syndrome |
|
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma |
OMIM:304050 |
Fanconi Anemia, Complementation Group C |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
|
Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |