{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1140&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1100&ordering=-synonyms","results":[{"identifier":"Birk-Barel syndrome.","acronym":"BIBARS.","accession":"DI-02513","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Delpire-McNeill syndrome.","acronym":"DELMNES.","accession":"DI-05959","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Combined oxidative phosphorylation deficiency 54.","acronym":"COXPD54.","accession":"DI-06332","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Ciliary dyskinesia, primary, 34.","acronym":"CILD34.","accession":"DI-04822","synonyms":null,"cross_references":"MeSH; D007619.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Diamond-Blackfan anemia-like.","acronym":"DBAL.","accession":"DI-05222","synonyms":null,"cross_references":"MeSH; D029503.","definition":"An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 107.","acronym":"DEE107.","accession":"DI-06502","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Cone-rod dystrophy 13.","acronym":"CORD13.","accession":"DI-00323","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Congenital disorder of glycosylation with defective fucosylation 1.","acronym":"CDGF1.","accession":"DI-05266","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Deafness, autosomal recessive, 25.","acronym":"DFNB25.","accession":"DI-02537","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Developmental delay with variable intellectual disability and dysmorphic facies.","acronym":"DIDDF.","accession":"DI-06542","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ciliary dyskinesia, primary, 41.","acronym":"CILD41.","accession":"DI-05575","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Basal cell carcinoma 7.","acronym":"BCC7.","accession":"DI-03503","synonyms":null,"cross_references":"MeSH; D002280.","definition":"A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 30.","acronym":"DFNB30.","accession":"DI-00870","synonyms":null,"cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Epilepsy, nocturnal frontal lobe, 5.","acronym":"ENFL5.","accession":"DI-03663","synonyms":null,"cross_references":"MeSH; D017034.","definition":"An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Cone-rod dystrophy 14.","acronym":"CORD14.","accession":"DI-05820","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Ciliary dyskinesia, primary, 46.","acronym":"CILD46.","accession":"DI-06168","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 47, and lissencephaly.","acronym":"CILD47.","accession":"DI-06185","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed. ","keywords":"KW-0451:Lissencephaly.; KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 48, without situs inversus.","acronym":"CILD48.","accession":"DI-06504","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Ciliary dyskinesia, primary, 49, without situs inversus.","acronym":"CILD49.","accession":"DI-06590","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "},{"identifier":"Hemolytic anemia, congenital, X-linked.","acronym":"HACXL.","accession":"DI-05302","synonyms":null,"cross_references":"MeSH; D000745.","definition":"An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "}]}