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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3700",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3660",
"results": [
{
"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, 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, 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, 2.",
"acronym": "HLD2.",
"accession": "DI-00649",
"synonyms": "Pelizaeus-Merzbacher-like disease autosomal recessive type 1.; Pelizaeus-Merzbacher-like disease type 1.; PMLD1.; PMLDAR1.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 20.",
"acronym": "HLD20.",
"accession": "DI-05951",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1026:Leukodystrophy.; "
},
{
"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": "Leukodystrophy, hypomyelinating, 22.",
"acronym": "HLD22.",
"accession": "DI-06111",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"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": "Leukodystrophy, hypomyelinating, 24.",
"acronym": "HLD24.",
"accession": "DI-06405",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and loss of developmental milestones and ambulation. Brain imaging shows non- progressive severe cerebral atrophy, ventriculomegaly, hypomyelinating leukodystrophy, and thinning of the corpus callosum. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 25.",
"acronym": "HLD25.",
"accession": "DI-06609",
"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. HLD25 is an autosomal dominant form with onset in early infancy and characterized by nystagmus, hypotonia, and delayed global development. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although some affected individuals may have persistent neurologic deficits. Brain imaging shows hypomyelination that may also improve with time. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 26, with chondrodysplasia.",
"acronym": "HLD26.",
"accession": "DI-06624",
"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. HLD26 is an autosomal recessive form characterized by severe psychomotor delay, limited or absent speech, abnormal development of brain white matter, corpus callosum hypoplasia, and cerebral atrophy. Other features include pre- and postnatal growth retardation, chondrodysplasia, and early-onset scoliosis. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"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": "Leukodystrophy, hypomyelinating, 3.",
"acronym": "HLD3.",
"accession": "DI-03001",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "A severe autosomal recessive hypomyelinating leukodystrophy characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 4.",
"acronym": "HLD4.",
"accession": "DI-00650",
"synonyms": "MitCHAP60 disease.; MitCHAP-60 disease.; Mitochondrial HSP60 chaperonopathy.; ",
"cross_references": "MeSH; D020279.",
"definition": "A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 5.",
"acronym": "HLD5.",
"accession": "DI-00651",
"synonyms": "HCC.; Hypomyelination with congenital cataract.; ",
"cross_references": "MeSH; D020279.",
"definition": "A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. ",
"keywords": "KW-0898:Cataract.; KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 6.",
"acronym": "HLD6.",
"accession": "DI-03778",
"synonyms": "HABC.; Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum.; ",
"cross_references": "MeSH; D020279.",
"definition": "A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism.",
"acronym": "HLD7.",
"accession": "DI-03248",
"synonyms": "4H leukodystrophy 1.; 4H syndrome.; ADDH.; Ataxia delayed dentition and hypomyelination.; Leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism 4H syndrome.; Leukodystrophy with oligodontia.; Leukoencephalopathy hypomyelinating with ataxia and delayed dentition.; TACH.; Tremor-ataxia with central hypomyelination.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.",
"acronym": "HLD8.",
"accession": "DI-03308",
"synonyms": "4H leukodystrophy 2.; Cerebellar hypoplasia with endosteal sclerosis.; ",
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 9.",
"acronym": "HLD9.",
"accession": "DI-04288",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy, progressive, early childhood-onset.",
"acronym": "PLDECO.",
"accession": "DI-05125",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "A form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive. ",
"keywords": "KW-1026:Leukodystrophy.; "
}
]
}