{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5140&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5100&ordering=-synonyms","results":[{"identifier":"Leprechaunism.","acronym":"LEPRCH.","accession":"DI-01890","synonyms":"Donohue syndrome.; ","cross_references":"MedGen; C0271689.","definition":"Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. ","keywords":null},{"identifier":"Hypomagnesemia 2.","acronym":"HOMG2.","accession":"DI-00577","synonyms":"Dominant renal hypomagnesemia.; Hypomagnesemia with hypocalciuria.; Isolated renal magnesium loss.; Renal hypomagnesemia 2.; Renal magnesium wasting.; ","cross_references":"MeSH; D015499.","definition":"A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria. ","keywords":"KW-0982:Primary hypomagnesemia.; "},{"identifier":"Autoinflammatory disease, multisystem, with immune dysregulation, X-linked.","acronym":"ADMIDX.","accession":"DI-06712","synonyms":"DOCK11 deficiency.; ","cross_references":"MeSH; D001327.","definition":"An X-linked recessive disorder apparent in infancy or early childhood, and characterized by immune dysregulation, variable cytopenias, and systemic or organ-specific autoinflammatory manifestations. Clinical features include systemic lupus erythematosus, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Death in childhood has been reported. ","keywords":null},{"identifier":"Tatton-Brown-Rahman syndrome.","acronym":"TBRS.","accession":"DI-04151","synonyms":"DNMT3A overgrowth syndrome.; ","cross_references":"MeSH; D008607.","definition":"An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Epidermolysis bullosa simplex 1A, generalized severe.","acronym":"EBS1A.","accession":"DI-00462","synonyms":"DM-EBS.; EBS-DM.; Epidermolysis bullosa herpetiformis, Dowling-Meara type.; Epidermolysis bullosa simplex, Dowling-Meara type.; Epidermolysis bullosa simplex, generalized severe.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Dystrophia myotonica 1.","acronym":"DM1.","accession":"DI-02023","synonyms":"DM.; Dystrophia myotonica.; Myotonic dystrophy 1.; Steinert disease.; Steinert myotonic dystrophy.; ","cross_references":"MeSH; D009223.","definition":"A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. ","keywords":null},{"identifier":"Muscular dystrophy, limb-girdle, autosomal recessive 5.","acronym":"LGMDR5.","accession":"DI-00660","synonyms":"DMDA1.; Duchenne-like muscular dystrophy autosomal recessive type 1.; LGMD2C.; Limb-girdle muscular dystrophy 2C.; Muscular dystrophy, limb-girdle, type 2C.; Sarcoglycan gamma deficiency.; SCARMD.; Severe childhood autosomal recessive muscular dystrophy North African type.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Dihydrolipoamide dehydrogenase deficiency.","acronym":"DLDD.","accession":"DI-03698","synonyms":"DLD deficiency.; E3 deficiency.; Lactic acidosis due to lipoamide dehydrogenase deficiency.; Maple syrup urine disease, type III.; MSUD3.; MSUD type III.; ","cross_references":"MeSH; D008375.","definition":"An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. ","keywords":null},{"identifier":"Dystonia-deafness syndrome 1.","acronym":"DDS1.","accession":"DI-00412","synonyms":"DJO.; Dystonia, juvenile-onset.; ","cross_references":"MeSH; D004421.","definition":"An autosomal dominant form of dystonia with juvenile onset, associated with congenital or childhood-onset sensorineural deafness. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Some DDS1 patients have dysmorphic features, skeletal anomalies, and/or mild developmental delay with impaired intellectual development. ","keywords":"KW-0209:Deafness.; KW-1023:Dystonia.; "},{"identifier":"Neuronopathy, distal hereditary motor, X-linked.","acronym":"HMNX.","accession":"DI-02799","synonyms":"Distal spinal muscular atrophy, X-linked, 3.; DSMAX.; Neuropathy, distal hereditary motor, X-linked.; SMAX3.; Spinal muscular atrophy distal X-linked recessive.; ","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":"Neuronopathy, distal hereditary motor, autosomal recessive 6.","acronym":"HMNR6.","accession":"DI-06488","synonyms":"Distal spinal muscular atrophy, autosomal recessive, 6.; DSMA6.; Neuropathy, distal hereditary motor, autosomal recessive 6.; ","cross_references":"MeSH; D009134.","definition":"A form of distal spinal muscular atrophy, 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 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. HMNR6 is characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Patients often show respiratory distress or diaphragmatic palsy. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal recessive 5.","acronym":"HMNR5.","accession":"DI-03602","synonyms":"Distal spinal muscular atrophy, autosomal recessive, 5.; DSMA5.; Neuropathy, distal hereditary motor, autosomal recessive 5.; ","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. HMNR5 is characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal recessive 4.","acronym":"HMNR4.","accession":"DI-00405","synonyms":"Distal spinal muscular atrophy, autosomal recessive, 4.; DSMA4.; Neuropathy, distal hereditary motor, autosomal recessive 4.; ","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. HMNR4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Neuronopathy, distal hereditary motor, autosomal recessive 2.","acronym":"HMNR2.","accession":"DI-04545","synonyms":"Distal spinal muscular atrophy, autosomal recessive, 2.; DSMA2.; Hereditary motor neuropathy, Jerash type.; HMNJ.; Motor neuropathy, distal, Jerash type.; Neuronopathy, distal hereditary motor, Jerash type.; Neuropathy, distal hereditary motor, Jerash type.; Spinal muscular atrophy, Jerash type.; ","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. HMNR2 is characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Amyotrophic lateral sclerosis 21.","acronym":"ALS21.","accession":"DI-02625","synonyms":"Distal myopathy 2.; Distal myopathy with vocal cord weakness.; MPD2.; MSP5.; Multisystem proteinopathy 5.; VCPDM.; Vocal cord and pharyngeal dysfunction with distal myopathy.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Myopathy, distal, 1.","acronym":"MPD1.","accession":"DI-01873","synonyms":"Distal myopathy 1.; Laing distal myopathy.; Laing early-onset distal myopathy.; Myopathy distal early-onset autosomal dominant.; Myopathy late distal hereditary.; ","cross_references":"MeSH; D049310.","definition":"A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. ","keywords":null},{"identifier":"Porokeratosis 3, multiple types.","acronym":"POROK3.","accession":"DI-01490","synonyms":"Disseminated superficial actinic porokeratosis 1.; DSAP1.; Porokeratosis, disseminated superficial actinic, 1.; Porokeratosis 3, disseminated superficial actinic type.; ","cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ","keywords":null},{"identifier":"Steel syndrome.","acronym":"STLS.","accession":"DI-04187","synonyms":"Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.; ","cross_references":"MeSH; D012600.","definition":"A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval- shaped face, hypertelorism and broad nasal bridge. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Congenital lactase deficiency.","acronym":"COLACD.","accession":"DI-01406","synonyms":"Disaccharide intolerance II.; Hereditary alactasia.; ","cross_references":"MedGen; C0268179.","definition":"Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down- regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT. ","keywords":null},{"identifier":"Congenital sucrase-isomaltase deficiency.","acronym":"CSID.","accession":"DI-01419","synonyms":"Disaccharide intolerance I.; ","cross_references":"MedGen; C1283620.","definition":"Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI. ","keywords":null}]}