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"count": 6723,
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"results": [
{
"identifier": "LEOPARD syndrome 3.",
"acronym": "LPRD3.",
"accession": "DI-02991",
"synonyms": null,
"cross_references": "MeSH; D044542.",
"definition": "A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Leprechaunism.",
"acronym": "LEPRCH.",
"accession": "DI-01890",
"synonyms": "Donohue syndrome.; ",
"cross_references": "MedGen; C0271689.",
"definition": "Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"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": "Leptin receptor deficiency.",
"acronym": "LEPRD.",
"accession": "DI-03638",
"synonyms": "Morbid obesity.; Morbid obesity due to leptin receptor deficiency.; ",
"cross_references": "MeSH; D009767.",
"definition": "A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Leri-Weill dyschondrosteosis.",
"acronym": "LWD.",
"accession": "DI-01891",
"synonyms": null,
"cross_references": "MedGen; CN031459.",
"definition": "Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. ",
"keywords": null
},
{
"identifier": "Lesch-Nyhan syndrome.",
"acronym": "LNS.",
"accession": "DI-01892",
"synonyms": null,
"cross_references": "MedGen; C1845893.",
"definition": "Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, intellectual disability, and compulsive self-mutilation. ",
"keywords": null
},
{
"identifier": "Lessel-Kreienkamp syndrome.",
"acronym": "LESKRES.",
"accession": "DI-06006",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lessel-Kubisch syndrome.",
"acronym": "LSKB.",
"accession": "DI-05687",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma- like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 1.",
"acronym": "LCCS1.",
"accession": "DI-00644",
"synonyms": "Multiple contracture syndrome Finnish type.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 10.",
"acronym": "LCCS10.",
"accession": "DI-04766",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 11.",
"acronym": "LCCS11.",
"accession": "DI-04874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 2.",
"acronym": "LCCS2.",
"accession": "DI-00645",
"synonyms": "Israeli Bedouin multiple contracture syndrome type A.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 3.",
"acronym": "LCCS3.",
"accession": "DI-01893",
"synonyms": "Multiple contractural syndrome Israeli Bedouin type B.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 4.",
"acronym": "LCCS4.",
"accession": "DI-03609",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 5.",
"acronym": "LCCS5.",
"accession": "DI-03854",
"synonyms": "Autosomal recessive lethal centronuclear myopathy.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 6.",
"acronym": "LCCS6.",
"accession": "DI-04327",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 7.",
"acronym": "LCCS7.",
"accession": "DI-04378",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 8.",
"acronym": "LCCS8.",
"accession": "DI-04380",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 9.",
"acronym": "LCCS9.",
"accession": "DI-04504",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"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
}
]
}