{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5580&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5540&ordering=-synonyms","results":[{"identifier":"Ichthyosis, congenital, autosomal recessive 2.","acronym":"ARCI2.","accession":"DI-00822","synonyms":"CIE.; Ichthyosiform erythroderma, congenital.; Ichthyosiform erythroderma Brocq congenital non-bullous form.; IECN1.; NCIE1.; Non-bullous congenital ichthyosiform erythroderma type 1.; Self-healing collodion baby.; ","cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Palmoplantar carcinoma, multiple self-healing.","acronym":"MSPC.","accession":"DI-03762","synonyms":"CIDED.; Corneal intraepithelial dyskeratosis and ectodermal dysplasia.; ","cross_references":"MeSH; D004476.","definition":"An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Hyperlipoproteinemia 1.","acronym":"HLPP1.","accession":"DI-01911","synonyms":"Chylomicronemia, familial.; Hyperchylomicronemia, familial.; Hyperlipemia, essential familial.; Hyperlipemia, idiopathic, Burger-Grutz type.; Hyperlipoproteinemia, type IA.; Lipase D deficiency.; LIPD deficiency.; Lipoprotein lipase deficiency.; LPL deficiency.; ","cross_references":"MeSH; D006951.","definition":"An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis. ","keywords":null},{"identifier":"Cohen syndrome.","acronym":"COH1.","accession":"DI-00314","synonyms":"CHS1.; Hypotonia-obesity-prominent incisors.; Pepper syndrome.; ","cross_references":"MeSH; D009765.","definition":"A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. ","keywords":"KW-0550:Obesity.; "},{"identifier":"Glucocorticoid resistance, generalized.","acronym":"GCCR.","accession":"DI-04226","synonyms":"Chrousos syndrome.; Cortisol resistance from glucocorticoid receptor defect.; GCCR deficiency.; GCR deficiency.; Glucocorticoid receptor deficiency.; GRL deficiency.; ","cross_references":"MeSH; D008661.","definition":"An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety. ","keywords":null},{"identifier":"Majeed syndrome.","acronym":"MJDS.","accession":"DI-01926","synonyms":"Chronic recurrent multifocal osteomyelitis, with congenital dyserythropoietic anemia and neutrophilic dermatosis.; Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;.; CRMO1.; ","cross_references":"MeSH; D000742.","definition":"An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). ","keywords":"KW-1055:Congenital dyserythropoietic anemia.; "},{"identifier":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1.","acronym":"PEOB1.","accession":"DI-00947","synonyms":"Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal recessive.; ","cross_references":"MeSH; D017246.","definition":"A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.","acronym":"PEOA4.","accession":"DI-00946","synonyms":"Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 4.; ","cross_references":"MeSH; D017246.","definition":"A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3.","acronym":"PEOA3.","accession":"DI-00945","synonyms":"Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 3.; ","cross_references":"MeSH; D017246.","definition":"A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2.","acronym":"PEOA2.","accession":"DI-00944","synonyms":"Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant 2.; ","cross_references":"MeSH; D017246.","definition":"A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1.","acronym":"PEOA1.","accession":"DI-00943","synonyms":"Chronic progressive external ophthalmoplegia.; CPEO.; Graefe disease.; Mitochondrial ocular myopathy.; Ocular myopathy of von Graefe-Fuchs.; Progressive external ophthalmoplegia autosomal dominant.; ","cross_references":"MeSH; D017246.","definition":"A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Pancreatitis, hereditary.","acronym":"PCTT.","accession":"DI-01731","synonyms":"Chronic pancreatitis.; CP.; HP.; HPC.; ","cross_references":"MeSH; D010195.","definition":"A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. ","keywords":null},{"identifier":"Pulmonary disease, chronic obstructive.","acronym":"COPD.","accession":"DI-01352","synonyms":"Chronic obstructive lung disease.; Severe early-onset chronic obstructive pulmonary disease.; ","cross_references":"MeSH; D029424.","definition":"A common, complex disorder defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC). ","keywords":null},{"identifier":"Leukemia, chronic myeloid.","acronym":"CML.","accession":"DI-03735","synonyms":"Chronic myelogenous leukemia.; ","cross_references":"MeSH; D015464.","definition":"A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. ","keywords":null},{"identifier":"Granulomatous disease, chronic, X-linked.","acronym":"CGDX.","accession":"DI-00307","synonyms":"Chronic granulomatous disease cytochrome b-negative X-linked.; Chronic granulomatous disease cytochrome b-positive X-linked.; ","cross_references":"MeSH; D006105.","definition":"A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ","keywords":"KW-0161:Chronic granulomatous disease.; "},{"identifier":"Granulomatous disease, chronic, autosomal recessive, 2.","acronym":"CGD2.","accession":"DI-00306","synonyms":"Chronic granulomatous disease autosomal recessive cytochrome b-positive type II.; Deficiency of neutrophil cytosol factor 2.; NCF2 deficiency.; p67-PHOX deficiency.; ","cross_references":"MeSH; D006105.","definition":"A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ","keywords":"KW-0161:Chronic granulomatous disease.; "},{"identifier":"Granulomatous disease, chronic, autosomal recessive, 1.","acronym":"CGD1.","accession":"DI-00305","synonyms":"Chronic granulomatous disease autosomal recessive cytochrome b-positive type I.; Chronic granulomatous disease due to NCF1 deficiency.; Deficiency of neutrophil cytosol factor 1.; NCF1 deficiency.; p47-PHOX deficiency.; SOC2 deficiency.; Soluble oxidase component II deficiency.; ","cross_references":"MeSH; D006105.","definition":"A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ","keywords":"KW-0161:Chronic granulomatous disease.; "},{"identifier":"Paget disease of bone 5, juvenile-onset.","acronym":"PDB5.","accession":"DI-01852","synonyms":"Chronic congenital idiopathic hyperphosphatasia.; Hereditary hyperphosphatasia.; Hyperostosis corticalis deformans juvenilis.; JPD.; Juvenile Paget disease.; Osteoectasia, familial.; ","cross_references":"MeSH; D010001.","definition":"An autosomal recessive, juvenile-onset form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. ","keywords":null},{"identifier":"Autism, X-linked 4.","acronym":"AUTSX4.","accession":"DI-04536","synonyms":"Chromosome Xp22 deletion syndrome.; ","cross_references":"MeSH; D001321.","definition":"A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ","keywords":"KW-1269:Autism.; "},{"identifier":"Verheij syndrome.","acronym":"VRJS.","accession":"DI-03999","synonyms":"Chromosome 8q24.3 deletion syndrome.; ","cross_references":"MeSH; D000015.","definition":"A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. ","keywords":null}]}