{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6040&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6000&ordering=-synonyms","results":[{"identifier":"Bleeding disorder, platelet-type, 24.","acronym":"BDPLT24.","accession":"DI-06077","synonyms":"Bleeding disorder, platelet-type, 24, autosomal dominant.; Glanzmann thrombasthenia-like with macrothrombocytopenia  2.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 13.","acronym":"BDPLT13.","accession":"DI-03258","synonyms":"Bleeding disorder due to defective platelet thromboxane A2 receptor.; ","cross_references":"MeSH; D006470.","definition":"A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. ","keywords":null},{"identifier":"BDV syndrome.","acronym":"BDVS.","accession":"DI-06110","synonyms":"Blakemore-Durmaz-Vasileiou syndrome.; IDDHH.; Intellectual developmental disorder and hypogonadotropic hypogonadism.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by obesity, intellectual disability, and hypogonadotropic hypogonadism. Additional variable features include central hypothyroidism, hypotonia, and developmental delay. ","keywords":"KW-0550:Obesity.; KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Bjoernstad syndrome.","acronym":"BJS.","accession":"DI-01285","synonyms":"Bjornstad syndrome.; Pili torti and nerve deafness.; PTD.; ","cross_references":"MeSH; D006319.","definition":"An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Focal facial dermal dysplasia 3, Setleis type.","acronym":"FFDD3.","accession":"DI-03079","synonyms":"Bitemporal forceps marks syndrome.; Facial ectodermal dysplasia.; FFDD type II.; FFDD type III.; Focal facial dermal dysplasia type II.; Focal facial dermal dysplasia type III.; Setleis syndrome.; ","cross_references":"MeSH; D004476.","definition":"A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Erythrocytosis, familial, 8.","acronym":"ECYT8.","accession":"DI-03027","synonyms":"Bisphosphoglycerate mutase deficiency.; Bisphosphoglyceromutase deficiency.; BPGM deficiency.; Diphosphoglycerate mutase deficiency of erythrocyte.; DPGM deficiency.; Erythrocytosis due to bisphosphoglycerate mutase deficiency.; ","cross_references":"MeSH; D000743.","definition":"An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Hyperthyroxinemia, familial dysalbuminemic.","acronym":"FDAH.","accession":"DI-01565","synonyms":"Bisalbuminemia.; ","cross_references":"MeSH; D050010.","definition":"A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. ","keywords":null},{"identifier":"Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia.","acronym":"CCAFCA.","accession":"DI-04654","synonyms":"Birk-Flusser syndrome.; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.; ","cross_references":"MeSH; D061085.","definition":"An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Seckel syndrome 1.","acronym":"SCKL1.","accession":"DI-01008","synonyms":"Bird-headed dwarfism.; Microcephalic primordial dwarfism I.; Nanocephalic dwarfism.; Seckel-type dwarfism.; ","cross_references":"MeSH; D008831.","definition":"A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Seckel syndrome 2.","acronym":"SCKL2.","accession":"DI-03353","synonyms":"Bird-headed dwarfism 2.; Microcephalic primordial dwarfism 2.; Seckel-type dwarfism 2.; ","cross_references":"MeSH; D008831.","definition":"A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Major affective disorder 7.","acronym":"MAFD7.","accession":"DI-02890","synonyms":"Bipolar affective disorder.; Manic depressive illness.; Manic-depressive psychosis.; ","cross_references":"MeSH; D001714.","definition":"A major psychiatric disorder that is characterized by severe mood swings, with fluctuation between two abnormal mood states (manic or major depressive episode). Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy. ","keywords":null},{"identifier":"Holocarboxylase synthetase deficiency.","acronym":"HLCS deficiency.","accession":"DI-00565","synonyms":"Biotin-responsive MCD.; Biotin-responsive multiple carboxylase deficiency.; Early-onset MCD.; Early-onset multiple carboxylase deficiency.; MCD neonatal form.; ","cross_references":"MeSH; D028922.","definition":"A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. ","keywords":null},{"identifier":"Kowarski syndrome.","acronym":"KWKS.","accession":"DI-01869","synonyms":"Biodefective growth hormone.; Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin.; ","cross_references":"MeSH; D004393.","definition":"A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Mirror movements 1.","acronym":"MRMV1.","accession":"DI-02833","synonyms":"Bimanual synergia.; Congenital mirror movements.; Mirror movements 1 and/or agenesis of the corpus callosum.; ","cross_references":"MeSH; D020820.","definition":"A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum. ","keywords":null},{"identifier":"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations.","acronym":"BILU.","accession":"DI-06278","synonyms":"BILU syndrome.; Hoffman syndrome.; ","cross_references":"MeSH; D007153.","definition":"An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations. ","keywords":null},{"identifier":"Hypertension and brachydactyly syndrome.","acronym":"HTNB.","accession":"DI-04464","synonyms":"Bilginturan syndrome.; Brachydactyly, type E, with short stature and hypertension.; Brachydactyly type E with short stature and hypertension.; Brachydactyly with hypertension.; ","cross_references":"MeSH; D059327.","definition":"A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. ","keywords":null},{"identifier":"Hypercholanemia, familial, 1.","acronym":"FHCA1.","accession":"DI-00492","synonyms":"Bile acid, elevated serum.; ","cross_references":"MeSH; D008286.","definition":"A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. ","keywords":null},{"identifier":"Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type.","acronym":"THMD4.","accession":"DI-03011","synonyms":"Bilateral striatal degeneration and progressive polyneuropathy.; Striatal necrosis, bilateral and progressive polyneuropathy.; ","cross_references":"MeSH; D001480.","definition":"A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. ","keywords":"KW-0622:Neuropathy.; "},{"identifier":"Bilateral optic nerve hypoplasia.","acronym":"BONH.","accession":"DI-01282","synonyms":"Bilateral optic nerve aplasia.; ","cross_references":"MeSH; D000013.","definition":"A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. ","keywords":null},{"identifier":"Bifid nose, with or without anorectal and renal anomalies.","acronym":"BNAR.","accession":"DI-02627","synonyms":"Bifid nose renal agenesis and anorectal malformations syndrome.; ","cross_references":"MeSH; D009668.","definition":"A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. ","keywords":null}]}