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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4560&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4520&ordering=-synonyms",
"results": [
{
"identifier": "Spherocytosis 3.",
"acronym": "SPH3.",
"accession": "DI-02323",
"synonyms": "Hereditary spherocytosis type 3.; HS3.; ",
"cross_references": "MedGen; C2678338.",
"definition": "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Spherocytosis 2.",
"acronym": "SPH2.",
"accession": "DI-02322",
"synonyms": "Hereditary spherocytosis type 2.; HS2.; Spherocytosis, hereditary, 2.; Spherocytosis, type 2, autosomal dominant.; ",
"cross_references": "MeSH; D013103.",
"definition": "An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. ",
"keywords": null
},
{
"identifier": "Spherocytosis 1.",
"acronym": "SPH1.",
"accession": "DI-02321",
"synonyms": "Hereditary spherocytosis type 1.; HS1.; ",
"cross_references": "MeSH; D013103.",
"definition": "A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"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, 2C.",
"acronym": "HSN2C.",
"accession": "DI-03263",
"synonyms": "Hereditary sensory neuropathy type IIC.; HSN IICE.; ",
"cross_references": "MeSH; D009477.",
"definition": "A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory, 1F.",
"acronym": "HSN1F.",
"accession": "DI-04037",
"synonyms": "Hereditary sensory neuropathy type IF.; HSN IF.; ",
"cross_references": "MeSH; D009477.",
"definition": "An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory, 1E.",
"acronym": "HSN1E.",
"accession": "DI-03189",
"synonyms": "Hereditary sensory neuropathy type IE.; HSN IE.; Neuropathy hereditary sensory with hearing loss and dementia.; ",
"cross_references": "MeSH; D009477.",
"definition": "A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory, 1D.",
"acronym": "HSN1D.",
"accession": "DI-03056",
"synonyms": "Hereditary sensory neuropathy type ID.; ",
"cross_references": "MeSH; D009477.",
"definition": "A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 1C.",
"acronym": "HSAN1C.",
"accession": "DI-02943",
"synonyms": "Hereditary sensory neuropathy type IC.; HSAN IC.; HSN1C.; HSN IC.; ",
"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 prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 1A.",
"acronym": "HSAN1A.",
"accession": "DI-00547",
"synonyms": "Hereditary sensory neuropathy type IA.; Hereditary sensory radicular neuropathy autosomal dominant type 1A.; HSAN1.; HSAN IA.; HSN1.; HSN IA.; ",
"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 prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. ",
"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, 2B.",
"acronym": "HSAN2B.",
"accession": "DI-02529",
"synonyms": "Hereditary sensory and autonomic neuropathy type IIB.; ",
"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. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.",
"acronym": "POIKTMP.",
"accession": "DI-04046",
"synonyms": "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.; ",
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. ",
"keywords": null
},
{
"identifier": "Overhydrated hereditary stomatocytosis.",
"acronym": "OHST.",
"accession": "DI-04608",
"synonyms": "Hereditary, overhydrated, cation-leak stomatocytosis.; OHS.; Overhydrated cation leak stomatocytosis.; Potassium sodium disorder of erythrocyte.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Lynch syndrome 8.",
"acronym": "LYNCH8.",
"accession": "DI-02724",
"synonyms": "Hereditary non-polyposis colorectal cancer 8.; HNPCC8.; ",
"cross_references": "MeSH; D003123.",
"definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Lynch syndrome 5.",
"acronym": "LYNCH5.",
"accession": "DI-00554",
"synonyms": "Hereditary non-polyposis colorectal cancer 5.; HNPCC5.; ",
"cross_references": "MeSH; D003123.",
"definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Lynch syndrome 4.",
"acronym": "LYNCH4.",
"accession": "DI-00553",
"synonyms": "Hereditary non-polyposis colorectal cancer 4.; HNPCC4.; ",
"cross_references": "MeSH; D003123.",
"definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Lynch syndrome 2.",
"acronym": "LYNCH2.",
"accession": "DI-00551",
"synonyms": "Hereditary non-polyposis colorectal cancer 2.; HNPCC2.; ",
"cross_references": "MeSH; D003123.",
"definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Lynch syndrome 1.",
"acronym": "LYNCH1.",
"accession": "DI-00550",
"synonyms": "Hereditary non-polyposis colorectal cancer 1.; HNPCC1.; Lynch cancer family syndrome.; Lynch syndrome.; Lynch syndrome type I.; Lynch syndrome type II.; ",
"cross_references": "MeSH; D003123.",
"definition": "A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Myopathy with exercise intolerance Swedish type.",
"acronym": "MEIS.",
"accession": "DI-02019",
"synonyms": "Hereditary myopathy with lactic acidosis.; HML.; Myoglobinuria due to abnormal glycolysis.; Myopathy with deficiency of succinate dehydrogenase and aconitase.; ",
"cross_references": "MedGen; C1850718.",
"definition": "Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. ",
"keywords": null
}
]
}