{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3700&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3660&ordering=synonyms","results":[{"identifier":"Leukodystrophy, hypomyelinating, 12.","acronym":"HLD12.","accession":"DI-04619","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4.","acronym":"CAMRQ4.","accession":"DI-03773","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Leukodystrophy, hypomyelinating, 10.","acronym":"HLD10.","accession":"DI-04450","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.","acronym":"CAMRQ3.","accession":"DI-02743","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Auditory neuropathy, autosomal dominant 3.","acronym":"AUNA3.","accession":"DI-06395","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late- onset, progressive form. ","keywords":"KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Auditory neuropathy, autosomal dominant 2.","acronym":"AUNA2.","accession":"DI-06691","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age. ","keywords":"KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Leukodystrophy, childhood-onset, remitting.","acronym":"CORLK.","accession":"DI-06414","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, hypomyelinating, 17.","acronym":"HLD17.","accession":"DI-05268","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy and acquired microcephaly with or without dystonia.","acronym":"LDAMD.","accession":"DI-04639","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurologic disorder characterized by profound intellectual disability, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy. ","keywords":"KW-0991:Intellectual disability.; KW-1026:Leukodystrophy.; "},{"identifier":"Leukocyte adhesion deficiency 1.","acronym":"LAD1.","accession":"DI-01897","synonyms":null,"cross_references":"MedGen; C1861766.","definition":"LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions. ","keywords":null},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.","acronym":"CAMRQ2.","accession":"DI-03450","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Leukodystrophy, hypomyelinating, 21.","acronym":"HLD21.","accession":"DI-06097","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurodegenerative disorder characterized by global developmental delay, loss of motor, speech and cognitive milestones in the first decades of life, and diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum observed on brain imaging. Clinical features include nystagmus, ataxia, dystonia, and spasticity. Other more variable features are feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures.The disorder is progressive and may lead to premature death. ","keywords":"KW-0523:Neurodegeneration.; KW-1026:Leukodystrophy.; "},{"identifier":"Leukemia, acute lymphoblastic, 3.","acronym":"ALL3.","accession":"DI-03959","synonyms":null,"cross_references":"MeSH; D054198.","definition":"A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ","keywords":null},{"identifier":"Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy.","acronym":"HLD23.","accession":"DI-06305","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss, hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities, and thin corpus callosum. ","keywords":"KW-0122:Cardiomyopathy.; KW-0209:Deafness.; KW-1026:Leukodystrophy.; "},{"identifier":"Lethal congenital contracture syndrome 9.","acronym":"LCCS9.","accession":"DI-04504","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ","keywords":null},{"identifier":"Lethal congenital contracture syndrome 8.","acronym":"LCCS8.","accession":"DI-04380","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. ","keywords":null},{"identifier":"Lethal congenital contracture syndrome 7.","acronym":"LCCS7.","accession":"DI-04378","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. ","keywords":null},{"identifier":"Leukodystrophy, hypomyelinating, 27.","acronym":"HLD27.","accession":"DI-06824","synonyms":null,"cross_references":"MeSH; D020279.","definition":"A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD27 is an autosomal recessive form characterized by global developmental delay apparent from infancy, poor or absent speech, ataxic gait or inability to sit or walk, spasticity, and abnormal eye movements. Some patients have seizures. Brain imaging shows hypomyelinating leukodystrophy, cerebellar atrophy, and thin corpus callosum. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Lethal congenital contracture syndrome 6.","acronym":"LCCS6.","accession":"DI-04327","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 31B.","acronym":"DEE31B.","accession":"DI-06666","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of severe 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. DEE31B is an autosomal recessive form with onset in the first months of life. ","keywords":"KW-0887:Epilepsy.; "}]}