{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4880&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4840&ordering=identifier","results":[{"identifier":"Neuropathy, hereditary sensory and autonomic, 3.","acronym":"HSAN3.","accession":"DI-01566","synonyms":"Familial dysautonomia.; FD.; Hereditary sensory and autonomic neuropathy type III.; HSAN III.; HSN III.; Riley-Day syndrome.; ","cross_references":"MeSH; D004402.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 5.","acronym":"HSAN5.","accession":"DI-00549","synonyms":"Congenital insensitivity to pain.; Hereditary sensory neuropathy type V.; HSAN V.; HSN V.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 6.","acronym":"HSAN6.","accession":"DI-03461","synonyms":"Hereditary sensory neuropathy type VI.; HSAN VI.; HSN VI.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 7.","acronym":"HSAN7.","accession":"DI-03988","synonyms":"Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis.; Hereditary sensory and autonomic neuropathy type VII.; HSAN VII.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 8.","acronym":"HSAN8.","accession":"DI-04493","synonyms":"Hereditary sensory and autonomic neuropathy type VIII.; HSAN VIII.; ","cross_references":"MeSH; D009477.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory and autonomic, 9, with developmental delay.","acronym":"HSAN9.","accession":"DI-03681","synonyms":"Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay.; Spastic paraplegia 49, autosomal recessive.; SPG49.; ","cross_references":"MeSH; D015419.","definition":"A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN9 is characterized by global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.","acronym":"HSNSP.","accession":"DI-01256","synonyms":null,"cross_references":"MeSH; D015419.","definition":"A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Neutral lipid storage disease with myopathy.","acronym":"NLSDM.","accession":"DI-02050","synonyms":"Neutral lipid storage disease without ichthyosis.; ","cross_references":"MedGen; C1853136.","definition":"Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride- containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. ","keywords":null},{"identifier":"Neutropenia, severe congenital, 10, autosomal recessive.","acronym":"SCN10.","accession":"DI-06772","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN10 is characterized by infantile onset of neutropenia. Anemia and thrombocytopenia may be transiently present. ","keywords":null},{"identifier":"Neutropenia, severe congenital, 11, autosomal dominant.","acronym":"SCN11.","accession":"DI-06823","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN11 is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. ","keywords":null},{"identifier":"Neutropenia, severe congenital 1, autosomal dominant.","acronym":"SCN1.","accession":"DI-01225","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 2, autosomal dominant.","acronym":"SCN2.","accession":"DI-01226","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 3, autosomal recessive.","acronym":"SCN3.","accession":"DI-01257","synonyms":"Agranulocytosis infantile.; Kostmann disease.; ","cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. ","keywords":null},{"identifier":"Neutropenia, severe congenital 4, autosomal recessive.","acronym":"SCN4.","accession":"DI-01258","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 5, autosomal recessive.","acronym":"SCN5.","accession":"DI-03813","synonyms":null,"cross_references":"MeSH; D009503.","definition":"An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. ","keywords":null},{"identifier":"Neutropenia, severe congenital 6, autosomal recessive.","acronym":"SCN6.","accession":"DI-04232","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 7, autosomal recessive.","acronym":"SCN7.","accession":"DI-04754","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 8, autosomal dominant.","acronym":"SCN8.","accession":"DI-05750","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null},{"identifier":"Neutropenia, severe congenital 9, autosomal dominant.","acronym":"SCN9.","accession":"DI-06386","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is characterized by onset of neutropenia in the first years of life. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts. Patients with SCN9 do not have 3- methylglutaconic aciduria. ","keywords":null},{"identifier":"Neutropenia, severe congenital, X-linked.","acronym":"XLN.","accession":"DI-02457","synonyms":null,"cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ","keywords":null}]}