{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1240&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1200&ordering=-synonyms","results":[{"identifier":"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1.","acronym":"OIEDS1.","accession":"DI-05986","synonyms":null,"cross_references":"MeSH; D010013.","definition":"An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2.","acronym":"OIEDS2.","accession":"DI-05987","synonyms":null,"cross_references":"MeSH; D010013.","definition":"An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Spondyloepiphyseal dysplasia congenital type.","acronym":"SEDC.","accession":"DI-02333","synonyms":null,"cross_references":"MedGen; C2745959.","definition":"Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. ","keywords":null},{"identifier":"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.","acronym":"CHILD.","accession":"DI-00357","synonyms":null,"cross_references":"MeSH; D017880.","definition":"An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Dyssegmental dysplasia Silverman-Handmaker type.","acronym":"DDSH.","accession":"DI-01512","synonyms":null,"cross_references":"MedGen; C1857100.","definition":"The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. ","keywords":null},{"identifier":"Epidermolysis bullosa, junctional 6, with pyloric atresia.","acronym":"JEB6.","accession":"DI-06343","synonyms":null,"cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Combined oxidative phosphorylation deficiency 9.","acronym":"COXPD9.","accession":"DI-03428","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 15.","acronym":"COXPD15.","accession":"DI-03631","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 16.","acronym":"COXPD16.","accession":"DI-03874","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 17.","acronym":"COXPD17.","accession":"DI-03913","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 18.","acronym":"COXPD18.","accession":"DI-03996","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 19.","acronym":"COXPD19.","accession":"DI-04002","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Birt-Hogg-Dube syndrome 2.","acronym":"BHD2.","accession":"DI-06731","synonyms":null,"cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 20.","acronym":"COXPD20.","accession":"DI-04181","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 21.","acronym":"COXPD21.","accession":"DI-04173","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 22.","acronym":"COXPD22.","accession":"DI-04243","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 23.","acronym":"COXPD23.","accession":"DI-04332","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life. ","keywords":"KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 24.","acronym":"COXPD24.","accession":"DI-04330","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 25.","acronym":"COXPD25.","accession":"DI-04460","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. ","keywords":"KW-0209:Deafness.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Hypogonadotropic hypogonadism 20 with or without anosmia.","acronym":"HH20.","accession":"DI-03771","synonyms":null,"cross_references":"MeSH; D007006.","definition":"A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ","keywords":"KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "}]}