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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4120&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4080&ordering=-synonyms",
"results": [
{
"identifier": "Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type.",
"acronym": "SEMDBCD.",
"accession": "DI-02330",
"synonyms": "Matrilin-3 related SEMD.; SEMD, matrilin-3 type.; Spondyloepimetaphyseal dysplasia bowed-legs type.; Spondyloepimetaphyseal dysplasia matrilin-3 type.; Spondylo-epi-metaphyseal dysplasia matrilin 3 type.; Spondylometaepiphyseal dysplasia matrilin-3 type.; ",
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spastic paraplegia 21, autosomal recessive.",
"acronym": "SPG21.",
"accession": "DI-01048",
"synonyms": "MASTS.; Mast syndrome.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Mastocytosis, cutaneous.",
"acronym": "MASTC.",
"accession": "DI-05277",
"synonyms": "Mastocytosis, diffuse cutaneous.; Mastocytosis, maculopapular cutaneous.; Urticaria pigmentosa.; ",
"cross_references": "MeSH; D014582.",
"definition": "A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign. ",
"keywords": null
},
{
"identifier": "Mastocytosis, systemic.",
"acronym": "MASTSYS.",
"accession": "DI-05278",
"synonyms": "Mast cell disease.; Mast-cell disease.; Mast cell leukemia.; Mastocytosis, indolent.; Mastocytosis with associated hematologic disorder.; ",
"cross_references": "MeSH; D008415.",
"definition": "A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality. ",
"keywords": null
},
{
"identifier": "Overlap connective tissue disease.",
"acronym": "OCTD.",
"accession": "DI-01941",
"synonyms": "MASS syndrome.; ",
"cross_references": "MedGen; C1858556.",
"definition": "Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. ",
"keywords": null
},
{
"identifier": "Martsolf syndrome 1.",
"acronym": "MARTS1.",
"accession": "DI-01940",
"synonyms": "MARTS.; Martsolf syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disease characterized by congenital cataracts, intellectual disability, and hypogonadism. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Macular dystrophy, patterned, 3.",
"acronym": "MDPT3.",
"accession": "DI-04818",
"synonyms": "Martinique crinkled retinal pigment epitheliopathy.; ",
"cross_references": "MeSH; D058499.",
"definition": "A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Manitoba oculotrichoanal syndrome.",
"acronym": "MOTA.",
"accession": "DI-03215",
"synonyms": "Marles syndrome.; ",
"cross_references": "MeSH; D005124.",
"definition": "A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. ",
"keywords": null
},
{
"identifier": "Myopathy, myofibrillar, 4.",
"acronym": "MFM4.",
"accession": "DI-02467",
"synonyms": "Markesbery-Griggs distal myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Fragile X syndrome.",
"acronym": "FXS.",
"accession": "DI-01625",
"synonyms": "Marker X syndrome.; Martin-Bell syndrome.; ",
"cross_references": "MeSH; D005600.",
"definition": "An X-linked dominant disease characterized by moderate to severe intellectual disability, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotrichosis 5.",
"acronym": "HYPT5.",
"accession": "DI-05779",
"synonyms": "Marie Unna hereditary hypotrichosis 2.; MUHH2.; ",
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Marfan syndrome.",
"acronym": "MFS.",
"accession": "DI-00699",
"synonyms": "Marfan syndrome type 1.; MFS1.; ",
"cross_references": "MeSH; D008382.",
"definition": "A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Marfanoid-progeroid-lipodystrophy syndrome.",
"acronym": "MFLS.",
"accession": "DI-04689",
"synonyms": "Marfan lipodystrophy syndrome.; Marfanoid-progeroid syndrome.; Marfan-progeroid-lipodystrophy syndrome.; ",
"cross_references": "MeSH; D008382.",
"definition": "An autosomal dominant syndrome characterized by congenital lipodystrophy, a progeroid facial appearance due to lack of subcutaneous fat, and variable signs of Marfan syndrome. Clinical features include premature birth with an accelerated linear growth disproportionate to the weight gain, ectopia lentis, aortic dilatation, dural ectasia, and arachnodactyly. Mental and motor development are within normal limits. ",
"keywords": null
},
{
"identifier": "Microphthalmia, syndromic, 2.",
"acronym": "MCOPS2.",
"accession": "DI-00761",
"synonyms": "Marashi-Gorlin syndrome.; Microphthalmia, cataracts, radiculomegaly and septal heart defects.; Oculofaciocardiodental syndrome.; Oculo-facio-cardio-dental syndrome.; OFCD syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Maple syrup urine disease 2.",
"acronym": "MSUD2.",
"accession": "DI-01935",
"synonyms": "Maple syrup urine disease type II.; MSUD type II.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Maple syrup urine disease 1B.",
"acronym": "MSUD1B.",
"accession": "DI-01937",
"synonyms": "Maple syrup urine disease type IB.; MSUD type IB.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 2.",
"acronym": "TPDS2.",
"accession": "DI-06473",
"synonyms": "MANS.; MBD4-associated neoplasia syndrome.; ",
"cross_references": "MeSH; D009386.",
"definition": "An autosomal recessive condition characterized by predisposition to develop a variety of tumors or malignancies, including acute myeloid leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma. ",
"keywords": null
},
{
"identifier": "Fibrodysplasia ossificans progressiva.",
"acronym": "FOP.",
"accession": "DI-00499",
"synonyms": "Man of stone.; Myositis ossificans.; Myositis ossificans progressive.; ",
"cross_references": "MeSH; D009221.",
"definition": "A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 3.",
"acronym": "TCS3.",
"accession": "DI-02965",
"synonyms": "Mandibulofacial dysostosis Treacher Collins type autosomal recessive.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 1.",
"acronym": "TCS1.",
"accession": "DI-02384",
"synonyms": "Mandibulofacial dysostosis.; MFD1.; TCOF.; TCS.; Treacher Collins-Franceschetti syndrome.; Treacher Collins syndrome.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ",
"keywords": null
}
]
}