| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001824 | Weight loss | |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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| HP:0002014 | Diarrhea | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002277 | Horner syndrome | |
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| HP:0002653 | Bone pain | |
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| HP:0003005 | Ganglioneuroma | |
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| HP:0003006 | Neuroblastoma | "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators] |
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| HP:0003745 | Sporadic | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0006747 | Ganglioneuroblastoma | |
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| HP:0010543 | Opsoclonus | "Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude." [HPO:curators] |
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| HP:0011977 | Elevated urinary homovanillic acid | "An `increased concentration` (PATO:0001162) of `homovanillic acid` (CHEBI:545959) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0011978 | Elevated urinary vanillylmandelic acid | "An `increased concentration` (PATO:0001162) of `vanillylmandelic acid` (CHEBI:20106) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0011979 | Elevated urinary dopamine | "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0200036 | skin nodules | "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:SKOEHLER] |
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