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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3820&ordering=identifier",
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"results": [
{
"identifier": "Lung disease, immunodeficiency, and chromosome breakage syndrome.",
"acronym": "LICS.",
"accession": "DI-04908",
"synonyms": null,
"cross_references": "MeSH; D008171.",
"definition": "An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. ",
"keywords": null
},
{
"identifier": "Luo-Schoch-Yamamoto syndrome.",
"acronym": "LUSYAM.",
"accession": "DI-06178",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "An autosomal dominant disorder characterized by intrauterine growth retardation, severe intellectual disability, behavioral problems, early-onset seizures, feeding difficulties, and dysmorphic features. White matter abnormalities and delayed myelination are observed on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Luscan-Lumish syndrome.",
"acronym": "LLS.",
"accession": "DI-04661",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Luteinizing hormone resistance.",
"acronym": "LHR.",
"accession": "DI-01902",
"synonyms": "Female luteinizing hormone resistance.; Hypergonadotropic hypogonadism male due to LHCGR defect.; Leydig cell agenesis.; Leydig cell hypoplasia.; Leydig cell hypoplasia complete.; Leydig cell hypoplasia partial.; Leydig cell hypoplasia type I.; Leydig cell hypoplasia type II.; Leydig cell hypoplasia with male pseudohermaphroditism.; Ovarian luteinizing hormone resistance.; Testicular luteinizing hormone resistance.; ",
"cross_references": "MeSH; D007006.",
"definition": "An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. ",
"keywords": null
},
{
"identifier": "Lymphangioleiomyomatosis.",
"acronym": "LAM.",
"accession": "DI-01919",
"synonyms": null,
"cross_references": "MedGen; C0751674.",
"definition": "Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. ",
"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": "Lymphatic malformation 10.",
"acronym": "LMPHM10.",
"accession": "DI-06134",
"synonyms": null,
"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. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 11.",
"acronym": "LMPHM11.",
"accession": "DI-06136",
"synonyms": null,
"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. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 12.",
"acronym": "LMPHM12.",
"accession": "DI-06490",
"synonyms": "CCLA.; Central conducting lymphatic anomaly.; ",
"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. LMPHM12 is an autosomal recessive, severe form often resulting in fetal or perinatal demise. It is characterized by dysfunction of core collecting lymphatic vessels, including the thoracic duct and cisterna chyli, non-immune hydrops fetalis, chylothorax, pleural effusions, and chylous ascites. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 13.",
"acronym": "LMPHM13.",
"accession": "DI-06611",
"synonyms": "Hydrops fetalis, nonimmune, with cardiac defects and hemangiomas.; ",
"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. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 14.",
"acronym": "LMPHM14.",
"accession": "DI-06793",
"synonyms": null,
"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. LMPHM14 is an autosomal dominant form. ",
"keywords": null
},
{
"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 4.",
"acronym": "LMPHM4.",
"accession": "DI-04160",
"synonyms": "Hereditary lymphedema ID.; LMPH1D.; Lymphedema, hereditary, 1D.; ",
"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. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 6.",
"acronym": "LMPHM6.",
"accession": "DI-04669",
"synonyms": "Generalized lymphatic dysplasia of Fotiou.; LMPH3.; Lymphedema, hereditary, 3.; Lymphedema, hereditary, III.; ",
"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. LMPHM6 is an autosomal recessive, severe form manifesting as generalized lymphatic dysplasia. It is characterized by uniform, widespread swelling of all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non- immune hydrops fetalis. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 7.",
"acronym": "LMPHM7.",
"accession": "DI-04930",
"synonyms": "Central conduction lymphatic anomaly.; HFASD.; Hydrops fetalis, non-immune, and/or atrial septal defect.; ",
"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. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 8.",
"acronym": "LMPHM8.",
"accession": "DI-05757",
"synonyms": null,
"cross_references": "MeSH; D015160.",
"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. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis. ",
"keywords": null
},
{
"identifier": "Lymphatic malformation 9.",
"acronym": "LMPHM9.",
"accession": "DI-06104",
"synonyms": null,
"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. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life. ",
"keywords": null
},
{
"identifier": "Lymphedema-distichiasis syndrome.",
"acronym": "LPHDST.",
"accession": "DI-00690",
"synonyms": "Lymphedema with distichiasis.; ",
"cross_references": "MeSH; D008209.",
"definition": "An autosomal dominant disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. ",
"keywords": null
},
{
"identifier": "Lymphedema, hereditary, 2.",
"acronym": "LMPH2.",
"accession": "DI-00693",
"synonyms": "Late-onset lymphedema.; Lymphedema, hereditary, II.; Lymphedema, late-onset.; Lymphedema praecox.; Meige disease.; Meige lymphedema.; ",
"cross_references": "MeSH; D008209.",
"definition": "A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. ",
"keywords": null
},
{
"identifier": "Lymphedema, primary, with myelodysplasia.",
"acronym": "LMPM.",
"accession": "DI-03299",
"synonyms": "Emberger syndrome.; ",
"cross_references": "MeSH; D008209.",
"definition": "A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. ",
"keywords": null
}
]
}