{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6180&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6140&ordering=-synonyms","results":[{"identifier":"Cataract 36.","acronym":"CTRCT36.","accession":"DI-03070","synonyms":"Autosomal recessive congenital cataract 4.; CATC4.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Cataract 18.","acronym":"CTRCT18.","accession":"DI-03191","synonyms":"Autosomal recessive congenital cataract 2.; CATC2.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Charcot-Marie-Tooth disease, axonal, 2R.","acronym":"CMT2R.","accession":"DI-03924","synonyms":"Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R.; Charcot-Marie-Tooth disease axonal type 2R.; Charcot-Marie-Tooth neuropathy, type 2R.; Charcot-Marie-Tooth neuropathy axonal type 2R.; ","cross_references":"MeSH; D002607.","definition":"An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Erythrocytosis, familial, 2.","acronym":"ECYT2.","accession":"DI-00480","synonyms":"Autosomal recessive benign erythrocytosis.; Polycythemia Chuvash type.; VHL-dependent polycythemia.; ","cross_references":"MeSH; D011086.","definition":"An autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Osteopetrosis, autosomal recessive 1.","acronym":"OPTB1.","accession":"DI-00886","synonyms":"Autosomal recessive Albers-Schonberg disease.; Infantile malignant osteopetrosis.; ","cross_references":"MeSH; D010022.","definition":"A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. ","keywords":"KW-0987:Osteopetrosis.; "},{"identifier":"Peroxisome biogenesis disorder 1B.","acronym":"PBD1B.","accession":"DI-03577","synonyms":"Autosomal neonatal adrenoleukodystrophy.; Infantile phytanic acid storage disease.; Infantile Refsum disease.; Peroxisome biogenesis disorder (NALD/IRD).; Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease).; Peroxisome biogenesis disorder 1B (NALD/IRD).; ","cross_references":"MeSH; D052919.","definition":"A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Weill-Marchesani syndrome 2.","acronym":"WMS2.","accession":"DI-01142","synonyms":"Autosomal dominant Weill-Marchesani syndrome.; Congenital mesodermal dysmorphodystrophy.; GEMSS.; Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome.; Spherophakia-brachymorphia syndrome.; ","cross_references":"MeSH; D056846.","definition":"A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Dystonia 1, torsion, autosomal dominant.","acronym":"DYT1.","accession":"DI-00413","synonyms":"Autosomal dominant torsion dystonia 1.; Dystonia-1.; Dystonia musculorum deformans 1.; Early-onset torsion dystonia.; EOTD.; Oppenheim's dystonia.; Oppenheim-Ziehen disease.; ","cross_references":"MeSH; D004422.","definition":"A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal dominant 6.","acronym":"HMND6.","accession":"DI-03987","synonyms":"Autosomal dominant spinal muscular atrophy distal calf-predominant.; dHMN2D.; dHMN IID.; Distal hereditary motor neuropathy type IID.; HMN2D.; HMN IID.; Neuronopathy, distal hereditary motor, 2D.; ","cross_references":"MeSH; D009134.","definition":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Speech-language disorder 1.","acronym":"SPCH1.","accession":"DI-02320","synonyms":"Autosomal dominant speech and language disorder with orofacial dyspraxia.; CAS.; Childhood apraxia of speech.; Developmental verbal dyspraxia.; DVD.; ","cross_references":"MeSH; D013064.","definition":"A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes. ","keywords":null},{"identifier":"Renal tubular acidosis, distal, 1.","acronym":"DRTA1.","accession":"DI-01207","synonyms":"Autosomal dominant RTA distal type.; Renal tubular acidosis I.; RTA classic type.; RTA gradient type.; ","cross_references":"MeSH; D000141.","definition":"An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ","keywords":null},{"identifier":"Myopathy, centronuclear, 1.","acronym":"CNM1.","accession":"DI-00252","synonyms":"Autosomal dominant myotubular myopathy.; Centronuclear myopathy autosomal dominant.; ","cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"identifier":"Multicentric carpotarsal osteolysis syndrome.","acronym":"MCTO.","accession":"DI-03436","synonyms":"Autosomal dominant multicentric osteolysis.; Hereditary osteolysis of carpal bones with or without nephropathy.; ","cross_references":"MeSH; D010014.","definition":"A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 17.","acronym":"BDPLT17.","accession":"DI-04008","synonyms":"Autosomal dominant macrothrombocytopenia GFI1B-related.; Autosomal dominant platelet disorder GFI1B-related.; Hereditary thrombasthenia-thrombocytopenia.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 15.","acronym":"BDPLT15.","accession":"DI-03753","synonyms":"Autosomal dominant macrothrombocytopenia ACTN1-related.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. ","keywords":null},{"identifier":"Keratitis hereditary.","acronym":"KERH.","accession":"DI-01213","synonyms":"Autosomal dominant keratitis.; ","cross_references":"MeSH; D007634.","definition":"An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. ","keywords":null},{"identifier":"Hemochromatosis 5.","acronym":"HFE5.","accession":"DI-03942","synonyms":"Autosomal dominant iron overload.; Hemochromatosis type 5.; ","cross_references":"MeSH; D006432.","definition":"A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ","keywords":null},{"identifier":"Hypophosphatemic rickets, autosomal dominant.","acronym":"ADHR.","accession":"DI-01212","synonyms":"Autosomal dominant hypophosphatemia.; Autosomal dominant vitamin D-resistant rickets.; ","cross_references":"MeSH; D012279.","definition":"A disease characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. ","keywords":null},{"identifier":"Hypocalcemia, autosomal dominant 1.","acronym":"HYPOC1.","accession":"DI-03841","synonyms":"Autosomal dominant hypocalcemia with Bartter syndrome.; Familial hypocalcemia.; Hypercalciuric hypocalcemia.; ","cross_references":"MeSH; D006996.","definition":"A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. ","keywords":null},{"identifier":"Myopathy, myofibrillar, 5.","acronym":"MFM5.","accession":"DI-01208","synonyms":"Autosomal dominant filaminopathy.; MFM filamin C-related.; Myopathy myofibrillar filamin C-related.; ","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. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction. ","keywords":"KW-1060:Myofibrillar myopathy.; "}]}