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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4220&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4180&ordering=-synonyms",
"results": [
{
"identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development.",
"acronym": "MLC2B.",
"accession": "DI-03114",
"synonyms": "Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B.; ",
"cross_references": "MeSH; D056784.",
"definition": "A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome.",
"acronym": "LEUDEN.",
"accession": "DI-05835",
"synonyms": "LEUDEN syndrome.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination. ",
"keywords": null
},
{
"identifier": "Leucine-induced hypoglycemia.",
"acronym": "LIH.",
"accession": "DI-01896",
"synonyms": "Leucine-sensitive hypoglycemia of infancy.; ",
"cross_references": "MedGen; C0271714.",
"definition": "Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. ",
"keywords": null
},
{
"identifier": "Thanatophoric dysplasia 1.",
"acronym": "TD1.",
"accession": "DI-02363",
"synonyms": "Lethal short-limbed platyspondylic dwarfism San Diego type.; Platyspondylic lethal skeletal dysplasia San Diego type.; Thanatophoric dwarfism.; Thanatophoric dysplasia type I.; ",
"cross_references": "MeSH; D013796.",
"definition": "A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Raine syndrome.",
"acronym": "RNS.",
"accession": "DI-02244",
"synonyms": "Lethal osteosclerotic bone dysplasia.; Osteomalacia, sclerosing, with cerebral calcification.; ",
"cross_references": "MeSH; D010026.",
"definition": "An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 2.",
"acronym": "SEMDJL2.",
"accession": "DI-03363",
"synonyms": "Lepto-SEMDJL.; Spondyloepimetaphyseal dysplasia with joint laxity Hall type.; Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type.; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Leptin deficiency.",
"acronym": "LEPD.",
"accession": "DI-03637",
"synonyms": "Leptin deficiency or dysfunction.; Morbid obesity.; Morbid obesity due to leptin deficiency.; Obesity due to congenital leptin deficiency.; ",
"cross_references": "MeSH; D009767.",
"definition": "A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Lenz-Majewski hyperostotic dwarfism.",
"acronym": "LMHD.",
"accession": "DI-04022",
"synonyms": "Lenz-Majewski syndrome.; LMS.; ",
"cross_references": "MeSH; D015576.",
"definition": "A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Striatonigral degeneration, childhood-onset.",
"acronym": "SNDC.",
"accession": "DI-04778",
"synonyms": "Lenk-Ploski syndrome.; ",
"cross_references": "MeSH; D020955.",
"definition": "An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Hereditary leiomyomatosis and renal cell cancer.",
"acronym": "HLRCC.",
"accession": "DI-02003",
"synonyms": "Leiomyoma multiple cutaneous.; Leiomyomatosis and renal cell cancer hereditary.; LRCC.; MCL.; MCUL1.; Multiple cutaneous and uterine leiomyomata.; Multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma.; ",
"cross_references": "MeSH; D018231.",
"definition": "A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. ",
"keywords": null
},
{
"identifier": "Leigh syndrome.",
"acronym": "LS.",
"accession": "DI-01886",
"synonyms": "Leigh Disease.; Leigh syndrome due to mitochondrial complex I deficiency.; Leigh syndrome due to mitochondrial complex II deficiency.; Leigh syndrome due to mitochondrial complex III deficiency.; Leigh syndrome due to mitochondrial complex IV deficiency.; Leigh syndrome due to mitochondrial complex V deficiency.; Necrotizing encephalopathy infantile subacute of Leigh.; SNE.; ",
"cross_references": "MeSH; D007888.",
"definition": "An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. ",
"keywords": "KW-0431:Leigh syndrome.; "
},
{
"identifier": "Lateral meningocele syndrome.",
"acronym": "LMNS.",
"accession": "DI-04541",
"synonyms": "Lehman syndrome.; LMS.; ",
"cross_references": "MeSH; D008588.",
"definition": "A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. ",
"keywords": null
},
{
"identifier": "Legg-Calve-Perthes disease.",
"acronym": "LCPD.",
"accession": "DI-01885",
"synonyms": "Legg-Perthes disease.; Perthes disease.; ",
"cross_references": "MedGen; C0023234.",
"definition": "Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. ",
"keywords": null
},
{
"identifier": "Left ventricular non-compaction 1.",
"acronym": "LVNC1.",
"accession": "DI-00823",
"synonyms": "Left ventricular non-compaction with or without congenital heart defects.; Non-compaction of left ventricular myocardium isolated autosomal dominant type 1.; Non-compaction of left ventricular myocardium with congenital heart defects.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Left ventricular non-compaction 9.",
"acronym": "LVNC9.",
"accession": "DI-03886",
"synonyms": "Left ventricular noncompaction 9.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Left ventricular non-compaction 8.",
"acronym": "LVNC8.",
"accession": "DI-03859",
"synonyms": "Left ventricular noncompaction 8.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Left ventricular non-compaction 7.",
"acronym": "LVNC7.",
"accession": "DI-03659",
"synonyms": "Left ventricular noncompaction 7.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Left ventricular non-compaction 3.",
"acronym": "LVNC3.",
"accession": "DI-01489",
"synonyms": "Left ventricular noncompaction 3.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Left ventricular non-compaction 10.",
"acronym": "LVNC10.",
"accession": "DI-03871",
"synonyms": "Left ventricular noncompaction 10.; ",
"cross_references": "MeSH; D056830.",
"definition": "A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC10 is an autosomal dominant condition. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Heterotaxy, visceral, 4, autosomal.",
"acronym": "HTX4.",
"accession": "DI-01884",
"synonyms": "Left-right axis malformations.; ",
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro- transposed great arteries, pulmonary stenosis, polysplenia and midline liver. ",
"keywords": "KW-1056:Heterotaxy.; "
}
]
}