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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3920&ordering=identifier",
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"results": [
{
"identifier": "Marbach-Rustad progeroid syndrome.",
"acronym": "MARUPS.",
"accession": "DI-06107",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal dominant syndrome characterized by progeria-like appearance with little subcutaneous fat and triangular facies, growth retardation, short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. ",
"keywords": null
},
{
"identifier": "Marbach-Schaaf neurodevelopmental syndrome.",
"acronym": "MASNS.",
"accession": "DI-06296",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, speech delay, behavioral abnormalities, hypotonia, and movement disorders including dyspraxia, apraxia, and clumsiness. More variable features include high pain tolerance, sleep disturbances, and variable non-specific dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Marden-Walker syndrome.",
"acronym": "MWKS.",
"accession": "DI-04140",
"synonyms": "MWS.; ",
"cross_references": "MeSH; D054119.",
"definition": "A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. ",
"keywords": null
},
{
"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": "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": "Marinesco-Sjoegren syndrome.",
"acronym": "MSS.",
"accession": "DI-01938",
"synonyms": null,
"cross_references": "MedGen; C0024814.",
"definition": "Autosomal recessive multisystem disorder which is characterized by cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule cell loss and myopathy featuring marked muscle replacement with fat and connective tissue. Other cardinal features include bilateral cataracts, hypergonadotrophic hypogonadism and mild to severe intellectual disability. Skeletal abnormalities, short stature, dysarthria, strabismus and nystagmus are also frequent findings. Mutational inactivation of this protein may result in ER stress- induced cell death signaling or malfunctioning chaperone machineries that mishandle client proteins which are critical for the organs targeted in MSS. ",
"keywords": null
},
{
"identifier": "Marshall-Smith syndrome.",
"acronym": "MRSHSS.",
"accession": "DI-03505",
"synonyms": "MSS.; ",
"cross_references": "MeSH; D019465.",
"definition": "A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, intellectual disability, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Marshall syndrome.",
"acronym": "MRSHS.",
"accession": "DI-01939",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0209:Deafness.; KW-0898:Cataract.; "
},
{
"identifier": "Marsili syndrome.",
"acronym": "MARSIS.",
"accession": "DI-05171",
"synonyms": "Congenital analgesia, autosomal dominant.; Insensitivity to pain, congenital, autosomal dominant.; ",
"cross_references": "MeSH; D000699.",
"definition": "An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness. ",
"keywords": null
},
{
"identifier": "Martin-Probst syndrome.",
"acronym": "MRXSMP.",
"accession": "DI-03524",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A rare neurodevelopmental disorder characterized by intellectual disability, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"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": "Martsolf syndrome 2.",
"acronym": "MARTS2.",
"accession": "DI-06162",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "MASA syndrome.",
"acronym": "MASA.",
"accession": "DI-00707",
"synonyms": "Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus.; CRASH.; ",
"cross_references": "MeSH; D010264.",
"definition": "An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; KW-0991:Intellectual disability.; "
},
{
"identifier": "MASP2 deficiency.",
"acronym": "MASPD.",
"accession": "DI-03105",
"synonyms": "Defect in lectin complement activation pathway, 2.; LCAPD2.; ",
"cross_references": "MeSH; D007154.",
"definition": "A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease. ",
"keywords": null
},
{
"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": "Maternal acute fatty liver of pregnancy.",
"acronym": "AFLP.",
"accession": "DI-01942",
"synonyms": null,
"cross_references": "MIM; 609016; phenotype.",
"definition": "Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). ",
"keywords": null
},
{
"identifier": "Maturity-onset diabetes of the young 1.",
"acronym": "MODY1.",
"accession": "DI-01943",
"synonyms": "Mild juvenile diabetes mellitus.; MODY-1.; MODY type 1.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 10.",
"acronym": "MODY10.",
"accession": "DI-02786",
"synonyms": "MODY-10.; MODY type 10.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Maturity-onset diabetes of the young 11.",
"acronym": "MODY11.",
"accession": "DI-02787",
"synonyms": "MODY-11.; MODY type 11.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
}
]
}