{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3060&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3020&ordering=-identifier","results":[{"identifier":"Leukodystrophy, hypomyelinating, 19, transient infantile.","acronym":"HLD19.","accession":"DI-05713","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, hypomyelinating, 18.","acronym":"HLD18.","accession":"DI-05549","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive. ","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, hypomyelinating, 16.","acronym":"HLD16.","accession":"DI-05245","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, hypomyelinating, 15.","acronym":"HLD15.","accession":"DI-05239","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with thinning of the corpus callosum. Clinical features include motor and cognitive impairment appearing in the first or second decade of life, dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. ","keywords":"KW-0523:Neurodegeneration.; KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, hypomyelinating, 14.","acronym":"HLD14.","accession":"DI-05211","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive, severe disorder characterized by atrophy of the basal ganglia and cerebellum, hypomyelination, severe developmental delay, typically without intentional movements and language development, and microcephaly. Almost all patients exhibit spasticity, extrapyramidal movement abnormalities, and severe drug- resistant epilepsy. Disease onset is early in infancy, and most patients die in the first years of life. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, hypomyelinating, 13.","acronym":"HLD13.","accession":"DI-04695","synonyms":null,"cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. ","keywords":"KW-1026:Leukodystrophy.; "},{"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":"Leukodystrophy, hypomyelinating, 11.","acronym":"HLD11.","accession":"DI-04497","synonyms":"4H leukodystrophy 3.; ","cross_references":"MeSH; D020279.","definition":"An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. ","keywords":"KW-1026:Leukodystrophy.; "},{"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":"Leukodystrophy, hypomyelinating, 1.","acronym":"HLD1.","accession":"DI-00648","synonyms":"Brain sclerosis diffuse familial.; Pelizaeus-Merzbacher brain sclerosis.; Pelizaeus-Merzbacher disease.; PMD.; Sudanophilic leukodystrophy Paelizeus-Merzbacher type.; ","cross_references":"MeSH; D020371.","definition":"An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Leukodystrophy, demyelinating, autosomal dominant, adult-onset.","acronym":"ADLD.","accession":"DI-00646","synonyms":"Multiple sclerosis-like disorder.; Pelizaeus-Merzbacher disease autosomal dominant.; Pelizaeus-Merzbacher disease late-onset type.; ","cross_references":"MeSH; D020279.","definition":"A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. ","keywords":"KW-1026:Leukodystrophy.; "},{"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 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 3.","acronym":"LAD3.","accession":"DI-01898","synonyms":"IADD.; Integrin activation deficiency disease.; LAD1V.; Leukocyte adhesion deficiency 1 variant.; ","cross_references":"MedGen; C2748536.","definition":"A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. ","keywords":null},{"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":"Leukemia, juvenile myelomonocytic.","acronym":"JMML.","accession":"DI-01851","synonyms":"Juvenile chronic myelogenous leukemia.; ","cross_references":"MeSH; D054429.","definition":"An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. ","keywords":null},{"identifier":"Leukemia, chronic myeloid, atypical.","acronym":"ACML.","accession":"DI-03829","synonyms":"Atypical chronic myeloid leukemia BCR-ABL1 negative.; ","cross_references":"MeSH; D015464.","definition":"A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss. ","keywords":null},{"identifier":"Leukemia, chronic myeloid.","acronym":"CML.","accession":"DI-03735","synonyms":"Chronic myelogenous leukemia.; ","cross_references":"MeSH; D015464.","definition":"A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. ","keywords":null},{"identifier":"Leukemia, chronic lymphocytic.","acronym":"CLL.","accession":"DI-01350","synonyms":"B-cell chronic lymphocytic Leukemia.; Chronic lymphatic leukemia.; Chronic lymphoid leukemia.; ","cross_references":"MeSH; D015451.","definition":"A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival. ","keywords":null}]}