{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1200&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1160&ordering=synonyms","results":[{"identifier":"Cholestasis, neonatal intrahepatic, caused by citrin deficiency.","acronym":"NICCD.","accession":"DI-00799","synonyms":"Citrin deficiency.; Citrullinemia, type II, neonatal-onset.; Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia.; Neonatal-onset citrullinemia type 2.; Neonatal-onset citrullinemia type II.; ","cross_references":"MeSH; D002780.","definition":"A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Cockayne syndrome A.","acronym":"CSA.","accession":"DI-00311","synonyms":"CKN1.; ","cross_references":"MeSH; D003057.","definition":"A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ","keywords":"KW-0172:Cockayne syndrome.; "},{"identifier":"Cockayne syndrome B.","acronym":"CSB.","accession":"DI-00312","synonyms":"CKN2.; ","cross_references":"MeSH; D003057.","definition":"A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ","keywords":"KW-0172:Cockayne syndrome.; "},{"identifier":"Niemann-Pick disease A.","acronym":"NPDA.","accession":"DI-02053","synonyms":"Classical Niemann-Pick disease.; Niemann-Pick disease acute neuronopathic form.; Niemann-Pick disease acute neurovisceral form.; Niemann-Pick disease classical infantile form.; Niemann-Pick disease intermediate protracted neurovisceral.; Niemann-Pick disease neuronopathic type.; Niemann-Pick disease type I.; NPA.; Sphingomyelinase deficiency.; Sphingomyelin lipidosis.; ","cross_references":"MeSH; D052536.","definition":"An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. ","keywords":"KW-1054:Niemann-Pick disease.; "},{"identifier":"Bartter syndrome 3.","acronym":"BARTS3.","accession":"DI-00175","synonyms":"Classic Bartter syndrome.; ","cross_references":"MeSH; D001477.","definition":"A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. ","keywords":"KW-0910:Bartter syndrome.; "},{"identifier":"Hemophilia A.","acronym":"HEMA.","accession":"DI-01705","synonyms":"Classic hemophilia.; Factor 8 deficiency.; Factor VIII deficiency.; ","cross_references":"MeSH; D006467.","definition":"A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. ","keywords":"KW-0355:Hemophilia.; "},{"identifier":"Lissencephaly 1.","acronym":"LIS1.","accession":"DI-00670","synonyms":"Classic lissencephaly.; Lissencephaly-1.; ","cross_references":"MeSH; D054082.","definition":"A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Nail disorder, non-syndromic congenital, 1.","acronym":"NDNC1.","accession":"DI-03199","synonyms":"Claw-shaped nails.; Nail disorder, non-syndromic congenital, 10.; NDNC10.; Onychauxis hyponychia and onycholysis.; ","cross_references":"MeSH; D054039.","definition":"An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. ","keywords":null},{"identifier":"Autoinflammation with episodic fever and lymphadenopathy.","acronym":"AIEFL.","accession":"DI-05817","synonyms":"Cleavage-resistant RIPK1-induced autoinflammatory syndrome.; CRIA syndrome.; ","cross_references":"MeSH; D056660.","definition":"An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum. ","keywords":null},{"identifier":"Leukoencephalopathy with vanishing white matter 5.","acronym":"VWM5.","accession":"DI-06651","synonyms":"CLE.; Cree leukoencephalopathy.; Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure.; ","cross_references":"MeSH; D056784.","definition":"An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Van der Woude syndrome 1.","acronym":"VWS1.","accession":"DI-01123","synonyms":"Cleft lip and/or palate with mucous cysts of lower lip.; Lip-pit syndrome.; LPS.; PIT.; VDWS.; ","cross_references":"MeSH; D002972.","definition":"An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ","keywords":null},{"identifier":"CATIFA syndrome.","acronym":"CATIFA.","accession":"DI-05742","synonyms":"Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ectodermal dysplasia, Margarita Island type.","acronym":"EDMI.","accession":"DI-00426","synonyms":"Cleft lip/palate-ectodermal dysplasia syndrome.; CLPED1.; Ectodermal dysplasia Margarita type.; Ectodermal dysplasia type 4.; ED4.; Margarita Island ectodermal dysplasia.; Syndactyly-ectodermal dysplasia-cleft lip/palate.; Zlotogora-Ogur syndrome.; ","cross_references":"MeSH; D004476.","definition":"An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Popliteal pterygium syndrome.","acronym":"PPS.","accession":"DI-02181","synonyms":"Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies.; Faciogenitopopliteal syndrome.; ","cross_references":"MeSH; D011625.","definition":"An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. ","keywords":null},{"identifier":"Juberg-Hayward syndrome.","acronym":"JHS.","accession":"DI-06066","synonyms":"Cleft Lip/Palate with abnormal thumbs and microcephaly.; Cleft lip/palate with radial head and digital anomalies.; Orocraniodigital syndrome.; ","cross_references":"MeSH; D009958.","definition":"An autosomal recessive syndrome characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Orofacial cleft 8.","acronym":"OFC8.","accession":"DI-00829","synonyms":"Cleft lip with or without cleft palate, nonsyndromic, 8.; Non-syndromic cleft lip/palate 8.; Non-syndromic cleft lip with or without cleft palate 8.; ","cross_references":"MeSH; D002971.","definition":"A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ","keywords":null},{"identifier":"Yunis-Varon syndrome.","acronym":"YVS.","accession":"DI-03789","synonyms":"Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia.; ","cross_references":"MeSH; D017880.","definition":"A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. ","keywords":null},{"identifier":"Parietal foramina with cleidocranial dysplasia.","acronym":"PFMCCD.","accession":"DI-02132","synonyms":"Cleidocranial dysplasia with parietal foramina.; ","cross_references":"MedGen; C1868597.","definition":"Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. ","keywords":null},{"identifier":"Poikiloderma with neutropenia.","acronym":"PN.","accession":"DI-02620","synonyms":"Clericuzio-type poikiloderma neutropenia syndrome.; Poikiloderma with neutropenia Clericuzio-type.; ","cross_references":"MeSH; D012868.","definition":"A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome. ","keywords":null},{"identifier":"Microphthalmia, syndromic, 6.","acronym":"MCOPS6.","accession":"DI-00764","synonyms":"Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia.; Microphthalmia and pituitary anomalies.; Microphthalmia with brain and digit developmental anomalies.; ","cross_references":"MeSH; D008850.","definition":"A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ","keywords":"KW-1013:Microphthalmia.; "}]}