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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=560&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=520&ordering=synonyms",
"results": [
{
"identifier": "Dystonia, dopa-responsive.",
"acronym": "DRD.",
"accession": "DI-00415",
"synonyms": "Autosomal dominant dopa-responsive dystonia.; Autosomal dominant Segawa syndrome.; DRD.; Dystonia 5.; Dystonia-5.; Dystonia-parkinsonism with diurnal fluctuation.; DYT5.; Progressive dystonia with diurnal fluctuation.; ",
"cross_references": "MeSH; D020821.",
"definition": "A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant.",
"acronym": "EDMD2.",
"accession": "DI-01520",
"synonyms": "Autosomal dominant Emery-Dreifuss muscular dystrophy.; Cardiomyopathy, dilated, with quadriceps myopathy.; EMD2.; Hauptmann-Thannhauser muscular dystrophy.; LGMD1B.; Limb-girdle muscular dystrophy 1B.; Muscular dystrophy, limb-girdle, type 1B.; Muscular dystrophy, proximal, type 1B.; Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant.; Scapuloilioperoneal atrophy with cardiopathy.; ",
"cross_references": "MeSH; D020389.",
"definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0947:Limb-girdle muscular dystrophy.; KW-1067:Emery-Dreifuss muscular dystrophy.; "
},
{
"identifier": "Vitreoretinopathy, exudative 1.",
"acronym": "EVR1.",
"accession": "DI-01126",
"synonyms": "Autosomal dominant familial exudative vitreoretinopathy.; Criswick-Schepens syndrome.; FEVR.; ",
"cross_references": "MeSH; D012178.",
"definition": "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history. ",
"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.; "
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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.; "
}
]
}