{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4160&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4120&ordering=-synonyms","results":[{"identifier":"Pentosuria.","acronym":"PNTSU.","accession":"DI-04062","synonyms":"L-xylulose reductase deficiency.; L-xylulosuria.; Xylitol dehydrogenase deficiency.; ","cross_references":"MedGen; C0268162.","definition":"An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose. ","keywords":null},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type.","acronym":"MRXSLF.","accession":"DI-01917","synonyms":"Lujan-Fryns syndrome.; ","cross_references":"MeSH; D038901.","definition":"A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate intellectual disability, behavioral aberrations and dysgenesis of the corpus callosum. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Transient familial neonatal hyperbilirubinemia.","acronym":"HBLRTFN.","accession":"DI-02379","synonyms":"Lucey-Driscoll syndrome.; ","cross_references":"MedGen; C1855967.","definition":"A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. ","keywords":null},{"identifier":"Lowe oculocerebrorenal syndrome.","acronym":"OCRL.","accession":"DI-01916","synonyms":"Lowe syndrome.; ","cross_references":"MedGen; C2713392.","definition":"X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, intellectual disability, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Timothy syndrome.","acronym":"TS.","accession":"DI-02370","synonyms":"Long QT syndrome with syndactyly.; ","cross_references":"MeSH; D013576.","definition":"Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. ","keywords":"KW-0454:Long QT syndrome.; KW-1269:Autism.; "},{"identifier":"Long QT syndrome 6.","acronym":"LQT6.","accession":"DI-00684","synonyms":"Long QT syndrome 3/6.; LQT3/6.; Susceptibility to acquired Long QT syndrome 6.; ","cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "},{"identifier":"Long QT syndrome 5.","acronym":"LQT5.","accession":"DI-00683","synonyms":"Long QT syndrome 2/5.; LQT2/5.; Susceptibility to acquired Long QT syndrome 5.; ","cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ","keywords":"KW-0454:Long QT syndrome.; "},{"identifier":"Long QT syndrome 2.","acronym":"LQT2.","accession":"DI-00680","synonyms":"Long QT syndrome 1/2.; LONG QT syndrome 2/3.; LONG QT syndrome 2/5.; LONG QT syndrome 2/9.; LQT1/2.; LQT2/3.; LQT2/5.; LQT2/9.; Susceptibility to acquired Long QT syndrome 2.; ","cross_references":"MeSH; D008133.","definition":"A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. ","keywords":"KW-0454:Long QT syndrome.; "},{"identifier":"Long-Olsen-Distelmaier syndrome.","acronym":"LNGODS.","accession":"DI-06796","synonyms":"Long-Olsen syndrome.; ","cross_references":"MeSH; D002311.","definition":"An autosomal dominant syndrome characterized by lethal dilated cardiomyopathy, bilateral cataracts, mild facial dysmorphisms, and liver dysfunction. Some patients have brain abnormalities, including pachygyria, polymicrogyria, and septo-optic dysplasia. Death occurs in infancy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Roberts-SC phocomelia syndrome.","acronym":"RBS.","accession":"DI-02272","synonyms":"Long bone deficiencies associated with cleft lip-palate.; Roberts syndrome.; SC phocomelia syndrome.; SC pseudothalidomide syndrome.; ","cross_references":"MeSH; D019465.","definition":"An autosomal recessive disorder characterized by pre- and postnatal growth retardation, intellectual disability, microcephaly, bilateral cleft lip and cleft palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. Patient chromosomes have a lack of cohesion involving heterochromatic C-banding regions around centromeres and the heterochromatin regions on the 1, 9, 16, and Y chromosomes. These findings are referred to as premature centromere separation (PCS) and heterochromatin repulsion (HR), and they are important for the diagnosis of the syndrome. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Lymphatic malformation 3.","acronym":"LMPHM3.","accession":"DI-02795","synonyms":"LMPH1C.; Lymphedema, hereditary, 1C.; Lymphedema hereditary type IC.; ","cross_references":"MeSH; D008209.","definition":"A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands. ","keywords":null},{"identifier":"Lymphatic malformation 1.","acronym":"LMPHM1.","accession":"DI-00692","synonyms":"LMPH1A.; Lymphedema, hereditary, 1A.; Lymphedema early-onset.; Lymphedema hereditary type IA.; Milroy disease.; Nonne-Milroy lymphedema.; PCL.; Primary congenital lymphedema.; ","cross_references":"MeSH; D008209.","definition":"A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis. ","keywords":null},{"identifier":"Vohwinkel syndrome with ichthyosis.","acronym":"VSI.","accession":"DI-01130","synonyms":"LK.; Loricrin keratoderma.; Mutilating keratoderma with ichthyosis.; Vohwinkel syndrome variant form.; ","cross_references":"MeSH; D017880.","definition":"A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. ","keywords":"KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Sneddon syndrome.","acronym":"SNDNS.","accession":"DI-04206","synonyms":"Livedo reticularis and cerebrovascular accidents.; ","cross_references":"MeSH; D018860.","definition":"An autosomal recessive, systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. ","keywords":null},{"identifier":"Lissencephaly, X-linked 2.","acronym":"LISX2.","accession":"DI-00674","synonyms":"Lissencephaly X-linked with ambiguous genitalia.; XLAG.; XLISG.; ","cross_references":"MeSH; D054082.","definition":"A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Lissencephaly 4.","acronym":"LIS4.","accession":"DI-03160","synonyms":"Lissencephaly 4 with microcephaly.; Microlissencephaly.; ","cross_references":"MeSH; D054082.","definition":"A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"Spastic paraplegia 23, autosomal recessive.","acronym":"SPG23.","accession":"DI-04976","synonyms":"Lison syndrome.; Spastic paraparesis, vitiligo, premature graying, characteristic facies.; Spastic paraplegia with pigmentary abnormalities.; ","cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.","acronym":"NELABA.","accession":"DI-05082","synonyms":"Lipoyltransferase 2 deficiency.; LIPT2D.; ","cross_references":"MeSH; D020739.","definition":"An autosomal recessive disorder characterized by severe encephalopathy with neonatal onset, metabolic features including lactic acidosis, little or no psychomotor development, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. ","keywords":null},{"identifier":"Mandibuloacral dysplasia with type B lipodystrophy.","acronym":"MADB.","accession":"DI-01933","synonyms":"Lipodystrophy type B associated with mandibuloacral dysplasia.; ","cross_references":"MeSH; D030981.","definition":"A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. ","keywords":null},{"identifier":"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.","acronym":"LSMFLAD.","accession":"DI-04783","synonyms":"Lipid storage myopathy due to FLAD1 deficiency.; ","cross_references":"MeSH; D009136.","definition":"An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients. ","keywords":null}]}