Human Disease List
GET /api/human_diseases/?format=api&offset=3060&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3080&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3040&ordering=-identifier", "results": [ { "identifier": "Leukemia, acute myelogenous.", "acronym": "AML.", "accession": "DI-01171", "synonyms": "Acute myeloblastic leukemia.; Acute myelocytic leukemia.; Acute myeloid leukemia.; Acute non-lymphoblastic leukemia.; Acute non-lymphocytic leukemia.; ", "cross_references": "MeSH; D015470.", "definition": "A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. ", "keywords": null }, { "identifier": "Leukemia, acute lymphoblastic, 3.", "acronym": "ALL3.", "accession": "DI-03959", "synonyms": null, "cross_references": "MeSH; D054198.", "definition": "A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ", "keywords": null }, { "identifier": "Leukemia, acute lymphoblastic.", "acronym": "ALL.", "accession": "DI-03076", "synonyms": "ALL1.; Childhood acute lymphoblastic leukemia.; Leukemia acute lymphoblastic 1.; Leukemia acute lymphoblastic B-hyperdiploid.; Leukemia acute lymphocytic.; Leukemia acute lymphocytic 1.; Leukemia B-cell acute lymphoblastic.; Leukemia T-cell acute lymphoblastic.; ", "cross_references": "MeSH; D054198.", "definition": "A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ", "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": "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": "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 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 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 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 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 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 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 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 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 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": "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": "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": "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": "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": "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.; " } ] }