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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3740",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3700",
"results": [
{
"identifier": "Liberfarb syndrome.",
"acronym": "LIBF.",
"accession": "DI-05845",
"synonyms": "SEMDLIBF.; Spondyloepimetaphyseal dysplasia, Liberfarb type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Li-Campeau syndrome.",
"acronym": "LICAS.",
"accession": "DI-06051",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lichtenstein-Knorr syndrome.",
"acronym": "LIKNS.",
"accession": "DI-04382",
"synonyms": "SCAR19.; Spinocerebellar ataxia, autosomal recessive, 19.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. ",
"keywords": "KW-0209:Deafness.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Liddle syndrome 1.",
"acronym": "LIDLS1.",
"accession": "DI-01905",
"synonyms": "Liddle syndrome.; LIDLS.; Pseudoaldosteronism.; Pseudohyperaldosteronism.; ",
"cross_references": "MeSH; D056929.",
"definition": "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. ",
"keywords": null
},
{
"identifier": "Liddle syndrome 2.",
"acronym": "LIDLS2.",
"accession": "DI-05331",
"synonyms": null,
"cross_references": "MeSH; D056929.",
"definition": "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. ",
"keywords": null
},
{
"identifier": "Liddle syndrome 3.",
"acronym": "LIDLS3.",
"accession": "DI-05332",
"synonyms": null,
"cross_references": "MeSH; D056929.",
"definition": "A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. ",
"keywords": null
},
{
"identifier": "Liebenberg syndrome.",
"acronym": "LBNBG.",
"accession": "DI-03623",
"synonyms": "Brachydactyly with joint dysplasia.; Carpal synostosis with dysplastic elbow joints and brachydactyly.; ",
"cross_references": "MeSH; D059327.",
"definition": "An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. ",
"keywords": null
},
{
"identifier": "Li-Fraumeni syndrome.",
"acronym": "LFS.",
"accession": "DI-01904",
"synonyms": "LFL.; Sarcoma family syndrome of Li and Fraumeni.; SBLA syndrome Li-Fraumeni-like syndrome.; ",
"cross_references": "MeSH; D016864.",
"definition": "An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers. ",
"keywords": null
},
{
"identifier": "LIG4 syndrome.",
"acronym": "LIG4S.",
"accession": "DI-01906",
"synonyms": null,
"cross_references": "MedGen; C1847827.",
"definition": "Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. ",
"keywords": null
},
{
"identifier": "Li-Ghorbani-Weisz-Hubshman syndrome.",
"acronym": "LIGOWS.",
"accession": "DI-05894",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Limb-mammary syndrome.",
"acronym": "LMS.",
"accession": "DI-01907",
"synonyms": null,
"cross_references": "MedGen; C1863753.",
"definition": "Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. ",
"keywords": null
},
{
"identifier": "Limb pelvis hypoplasia aplasia syndrome.",
"acronym": "LPHAS.",
"accession": "DI-01908",
"synonyms": "AARRS.; Absence of ulna and fibula with severe limb deficiency.; Al-Awadi/Raas-Rothschild syndrome.; Limb/pelvis/uterus-hypoplasia/aplasia syndrome.; Limb/pelvis-hypoplasia/aplasia syndrome.; Schinzel phocomelia syndrome.; ",
"cross_references": "MeSH; D004480.",
"definition": "A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present. ",
"keywords": null
},
{
"identifier": "Linear skin defects with multiple congenital anomalies 1.",
"acronym": "LSDMCA1.",
"accession": "DI-00765",
"synonyms": "MCOPS7.; Microphthalmia, dermal aplasia and sclerocornea.; Microphthalmia, syndromic, 7.; Microphthalmia with linear skin defects.; MIDAS syndrome.; MLS.; ",
"cross_references": "MeSH; D012868.",
"definition": "A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Linear skin defects with multiple congenital anomalies 2.",
"acronym": "LSDMCA2.",
"accession": "DI-03628",
"synonyms": "Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies.; APLCC.; ",
"cross_references": "MeSH; D000015.",
"definition": "A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. ",
"keywords": null
},
{
"identifier": "Linear skin defects with multiple congenital anomalies 3.",
"acronym": "LSDMCA3.",
"accession": "DI-04409",
"synonyms": "Linear skin defects with cardiomyopathy and other congenital anomalies.; ",
"cross_references": "MeSH; D012868.",
"definition": "A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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
},
{
"identifier": "Lipodystrophy, congenital generalized, 1.",
"acronym": "CGL1.",
"accession": "DI-00354",
"synonyms": "Berardinelli-Seip congenital lipodystrophy type 1.; Berardinelli-Seip syndrome.; Brunzell syndrome AGPAT2-related.; BSCL1.; Lipoatrophic diabetes.; Lipodystrophy Berardinelli type.; Total lipodystrophy and acromegaloid gigantism.; ",
"cross_references": "MeSH; D052497.",
"definition": "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "
},
{
"identifier": "Lipodystrophy, congenital generalized, 2.",
"acronym": "CGL2.",
"accession": "DI-00355",
"synonyms": "Berardinelli-Seip congenital lipodystrophy type 2.; Berardinelli-Seip syndrome.; Brunzell syndrome BSCL2-related.; Lipoatrophic diabetes.; Lipodystrophy Berardinelli type.; Total lipodystrophy and acromegaloid gigantism.; ",
"cross_references": "MeSH; D052497.",
"definition": "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "
},
{
"identifier": "Lipodystrophy, congenital generalized, 3.",
"acronym": "CGL3.",
"accession": "DI-00356",
"synonyms": "Berardinelli-Seip congenital lipodystrophy type 3.; BSCL3.; ",
"cross_references": "MeSH; D052497.",
"definition": "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "
},
{
"identifier": "Lipodystrophy, congenital generalized, 4.",
"acronym": "CGL4.",
"accession": "DI-02767",
"synonyms": "Berardinelli-Seip congenital lipodystrophy type 4.; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy.; ",
"cross_references": "MeSH; D052497.",
"definition": "A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL4 is characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Inheritance is autosomal recessive. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-1022:Congenital generalized lipodystrophy.; "
}
]
}