{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5120&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5080&ordering=-synonyms","results":[{"identifier":"Dyskeratosis congenita, autosomal dominant, 2.","acronym":"DKCA2.","accession":"DI-00407","synonyms":"Dyskeratosis congenita Scoggins type.; ","cross_references":"MeSH; D019871.","definition":"A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ","keywords":"KW-1011:Dyskeratosis congenita.; "},{"identifier":"Agnathia-otocephaly complex.","acronym":"AGOTC.","accession":"DI-03217","synonyms":"Dysgnathia complex agnathia-holoprosencephaly.; Holoprosencephaly-agnathia.; Otocephaly.; ","cross_references":"MeSH; D016142.","definition":"A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. ","keywords":null},{"identifier":"Meckel syndrome 1.","acronym":"MKS1.","accession":"DI-00700","synonyms":"Dysencephalia splanchnocystica.; Gruber syndrome.; Meckel-Gruber syndrome.; MES.; ","cross_references":"MeSH; D007690.","definition":"A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. ","keywords":"KW-0981:Meckel syndrome.; "},{"identifier":"Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures.","acronym":"NEDHELS.","accession":"DI-04854","synonyms":"DYSEIDD.; Dyskinesia, seizures, and intellectual developmental disorder.; ","cross_references":"MeSH; D020820.","definition":"An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Kenny-Caffey syndrome 2.","acronym":"KCS2.","accession":"DI-03711","synonyms":"Dwarfism with cortical thickening of tubular bones and transient hypocalcemia.; Kenny syndrome.; ","cross_references":"MeSH; D006958.","definition":"A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Growth hormone deficiency, isolated, 4.","acronym":"IGHD4.","accession":"DI-05358","synonyms":"Dwarfism of Sindh.; Growth hormone deficiency, isolated, type IV.; Isolated growth hormone deficiency, type IV.; ","cross_references":"MeSH; D004393.","definition":"An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Arthrogryposis, distal, 7.","acronym":"DA7.","accession":"DI-02392","synonyms":"Dutch-Kentucky syndrome.; Hecht syndrome.; Trismus-pseudocamptodactyly syndrome.; ","cross_references":"MeSH; D001176.","definition":"A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. ","keywords":null},{"identifier":"Laurin-Sandrow syndrome.","acronym":"LSS.","accession":"DI-04275","synonyms":"Duplication of fibula and ulna with absence of tibia and radius.; MIP.; Mirror hands and feet with nasal defects.; Mirror-image polydactyly.; Sandrow syndrome.; Segmental Laurin-Sandrow syndrome.; Tetramelic mirror-image polydactyly.; TMIP.; ","cross_references":"MeSH; D017880.","definition":"A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). ","keywords":null},{"identifier":"Acromesomelic dysplasia 2B.","acronym":"AMD2B.","accession":"DI-01505","synonyms":"DUPANS.; Du Pan syndrome.; Fibular hypoplasia and complex brachydactyly.; ","cross_references":"MeSH; D059327.","definition":"A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2B is an autosomal recessive form characterized by acromesomelic limb shortening with severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly. ","keywords":null},{"identifier":"Lymphoproliferative syndrome, X-linked, 1.","acronym":"XLP1.","accession":"DI-00694","synonyms":"Duncan disease.; IMD5.; Immunodeficiency 5.; Purtilo syndrome.; X-linked lymphoproliferative disease.; X-linked progressive combined variable immunodeficiency.; XLPD.; ","cross_references":"MeSH; D008232.","definition":"A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. ","keywords":null},{"identifier":"Congenital heart defects, multiple types, 6.","acronym":"CHTD6.","accession":"DI-03082","synonyms":"DTGA3.; Transposition of the great arteries, dextro-looped 3.; ","cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. ","keywords":null},{"identifier":"Transposition of the great arteries dextro-looped 1.","acronym":"DTGA1.","accession":"DI-02383","synonyms":"D-TGA.; ","cross_references":"MeSH; D014188.","definition":"A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. ","keywords":null},{"identifier":"Dyschromatosis universalis hereditaria 3.","acronym":"DUH3.","accession":"DI-03880","synonyms":"DSH.; Dyschromatosis symmetrica hereditaria.; Reticulate acropigmentation of Dohi.; Symmetric dyschromatosis of the extremities.; ","cross_references":"MeSH; D010859.","definition":"An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. ","keywords":null},{"identifier":"Dyschromatosis symmetrica hereditaria.","acronym":"DSH.","accession":"DI-01510","synonyms":"DSH1.; Dyschromatosis symmetrica hereditaria 1.; Reticulate acropigmentation of Dohi.; Symmetric dyschromatosis of the extremities.; ","cross_references":"MeSH; D010859.","definition":"An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. ","keywords":null},{"identifier":"Basal laminar drusen.","acronym":"BLD.","accession":"DI-02606","synonyms":"Drusen cuticular.; Drusen early adult-onset grouped.; Drusen of Bruch membrane.; ","cross_references":"MeSH; D015593.","definition":"Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. ","keywords":null},{"identifier":"Doyne honeycomb retinal dystrophy.","acronym":"DHRD.","accession":"DI-01504","synonyms":"Doyne honeycomb degeneration of retina.; Drusen, radial, autosomal dominant.; Malattia leventinese.; ML.; MLVT.; ","cross_references":"MeSH; D015593.","definition":"An autosomal dominant, progressive, ocular disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. With age, drusen increase in size and number, and eventually cause visual symptoms, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. ","keywords":null},{"identifier":"Calvarial doughnut lesions with bone fragility.","acronym":"CDL.","accession":"DI-05600","synonyms":"Doughnut lesions of skull, familial.; ","cross_references":"MeSH; D001847.","definition":"A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones. ","keywords":"KW-1285:Osteoporosis.; "},{"identifier":"Subcortical band heterotopia X-linked.","acronym":"SBHX.","accession":"DI-01095","synonyms":"Double cortex.; SCLH.; Subcortical laminar heterotopia.; ","cross_references":"MeSH; D054221.","definition":"SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Subcortical band heterotopia.","acronym":"SBH.","accession":"DI-01094","synonyms":"Double cortex.; SCLH.; Subcortical laminar heterotopia.; ","cross_references":"MeSH; D054221.","definition":"SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Parkinsonism-dystonia 1, infantile-onset.","acronym":"PKDYS1.","accession":"DI-02782","synonyms":"Dopamine transporter deficiency syndrome.; DTDS.; Dystonia-parkinsonism infantile.; Parkinsonism-dystonia infantile.; PKDYS.; ","cross_references":"MeSH; D020734.","definition":"An autosomal recessive neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. ","keywords":"KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "}]}