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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4100&ordering=-synonyms",
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"results": [
{
"identifier": "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome.",
"acronym": "FAMMMPC.",
"accession": "DI-01558",
"synonyms": "Melanoma-pancreatic cancer syndrome.; ",
"cross_references": "MeSH; D009386.",
"definition": "An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer. ",
"keywords": null
},
{
"identifier": "Megalocornea 1, X-linked.",
"acronym": "MGC1.",
"accession": "DI-03435",
"synonyms": "Megalocornea.; MGCN.; ",
"cross_references": "MeSH; D003316.",
"definition": "An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. ",
"keywords": null
},
{
"identifier": "Thiamine-responsive megaloblastic anemia syndrome.",
"acronym": "TRMA.",
"accession": "DI-02365",
"synonyms": "Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness.; Rogers syndrome.; Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type).; Thiamine-responsive anemia syndrome.; Thiamine-responsive myelodysplasia.; THMD1.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Imerslund-Grasbeck syndrome 2.",
"acronym": "IGS2.",
"accession": "DI-05840",
"synonyms": "Megaloblastic anemia, Norwegian type.; ",
"cross_references": "MeSH; D000749.",
"definition": "A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ",
"keywords": null
},
{
"identifier": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.",
"acronym": "MPPH1.",
"accession": "DI-03625",
"synonyms": "Megalencephaly mega corpus callosum and complete lack of motor development.; Megalencephaly-polymicrogyria-mega corpus callosum syndrome.; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.; MEG-PMG-MEGACC syndrome.; MPPH.; ",
"cross_references": "MeSH; D058627.",
"definition": "A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Lubs type.",
"acronym": "MRXSL.",
"accession": "DI-02752",
"synonyms": "MECP2 duplication syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 3.",
"acronym": "PFIC3.",
"accession": "DI-00951",
"synonyms": "MDR3 deficiency.; Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase.; ",
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC3 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5.",
"acronym": "MDDGB5.",
"accession": "DI-01409",
"synonyms": "MDC1C.; Muscular dystrophy congenital type 1C.; Muscular dystrophy FKRP-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities.",
"acronym": "NEDMISBA.",
"accession": "DI-04491",
"synonyms": "MCPH15.; Microcephaly 15, primary, autosomal recessive.; ",
"cross_references": "MeSH; D008831.",
"definition": "An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Linear skin defects with multiple congenital anomalies 1.",
"acronym": "LSDMCA1.",
"accession": "DI-00765",
"synonyms": "MCOPS7.; Microphthalmia, dermal aplasia and sclerocornea.; Microphthalmia, syndromic, 7.; Microphthalmia with linear skin defects.; MIDAS syndrome.; MLS.; ",
"cross_references": "MeSH; D012868.",
"definition": "A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. 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": "Microphthalmia/coloboma and skeletal dysplasia syndrome.",
"acronym": "MCSKS.",
"accession": "DI-04146",
"synonyms": "MCOPS14.; Microphthalmia, syndromic, 14.; Microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic 16.",
"acronym": "MCOPS16.",
"accession": "DI-00756",
"synonyms": "MCOP3.; Microphthalmia, isolated, 3.; ",
"cross_references": "MeSH; D008850.",
"definition": "An autosomal recessive disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Some patients exhibit developmental delay and intellectual disability or autism. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "McLeod syndrome.",
"acronym": "MCLDS.",
"accession": "DI-01954",
"synonyms": "McLeod phenotype.; McLeod syndrome with chronic granulomatous disease.; Neuroacanthocytosis McLeod type.; ",
"cross_references": "MeSH; D054546.",
"definition": "A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Combined deficiency of vitamin K-dependent clotting factors 1.",
"acronym": "VKCFD1.",
"accession": "DI-01361",
"synonyms": "MCFD3.; Multiple coagulation factor deficiency III.; ",
"cross_references": "MedGen; C1848534.",
"definition": "VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. ",
"keywords": null
},
{
"identifier": "Factor V and factor VIII combined deficiency 2.",
"acronym": "F5F8D2.",
"accession": "DI-02942",
"synonyms": "MCFD2.; Multiple coagulation factor deficiency 2.; ",
"cross_references": "MeSH; D025861.",
"definition": "A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. ",
"keywords": null
},
{
"identifier": "Leber-like hereditary optic neuropathy, autosomal recessive 1.",
"acronym": "LHONAR1.",
"accession": "DI-06147",
"synonyms": "MC1DN38.; Mitochondrial complex I deficiency, nuclear type 38.; ",
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. ",
"keywords": "KW-0429:Leber hereditary optic neuropathy.; "
},
{
"identifier": "Noonan syndrome-like disorder with loose anagen hair 1.",
"acronym": "NSLH1.",
"accession": "DI-02076",
"synonyms": "Mazzanti syndrome.; NSLH.; Tosti syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. ",
"keywords": null
},
{
"identifier": "Rokitansky-Kuster-Hauser syndrome.",
"acronym": "RKH syndrome.",
"accession": "DI-02273",
"synonyms": "Mayer-Rokitansky-Kuster-Hauser syndrome.; MRKH anomaly.; MRKH syndrome.; ",
"cross_references": "MedGen; C1698581.",
"definition": "Characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls. ",
"keywords": null
},
{
"identifier": "Maturity-onset diabetes of the young 14.",
"acronym": "MODY14.",
"accession": "DI-04501",
"synonyms": "Maturity-onset diabetes of the young, type 14.; ",
"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 13.",
"acronym": "MODY13.",
"accession": "DI-04404",
"synonyms": "Maturity-onset diabetes of the young, type 13.; MODY type 13.; ",
"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.; "
}
]
}