Human Disease List
GET /api/human_diseases/?format=api&offset=1840&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1860&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1820&ordering=-identifier", "results": [ { "identifier": "Nicolaides-Baraitser syndrome.", "acronym": "NCBRS.", "accession": "DI-03463", "synonyms": "NBS.; Sparse hair and intellectual development syndrome.; ", "cross_references": "MeSH; D019066.", "definition": "A rare disorder characterized by severe intellectual disability with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. ", "keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; " }, { "identifier": "Nevus spilus.", "acronym": "NEVUSPI.", "accession": "DI-04451", "synonyms": "Nevoid lentigo.; Speckled lentiginous nevus.; ", "cross_references": "MeSH; D009508.", "definition": "A congenital hyperpigmented patch, which progressively evolves, developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanoma. ", "keywords": null }, { "identifier": "Nevus comedonicus.", "acronym": "NC.", "accession": "DI-04767", "synonyms": null, "cross_references": "MeSH; D009506.", "definition": "A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. ", "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 }, { "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 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 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 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 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 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 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 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 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, 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, 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": "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": "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": "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 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, 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.; " } ] }