Human Disease List
GET /api/human_diseases/?format=api&offset=4580&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4600&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4560&ordering=-identifier", "results": [ { "identifier": "Epidermodysplasia verruciformis 2.", "acronym": "EV2.", "accession": "DI-05436", "synonyms": null, "cross_references": "MeSH; D004819.", "definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Epidermodysplasia verruciformis 1.", "acronym": "EV1.", "accession": "DI-01531", "synonyms": null, "cross_references": "MeSH; D004819.", "definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Eosinophil peroxidase deficiency.", "acronym": "EPXD.", "accession": "DI-01529", "synonyms": "Partial eosinophil peroxidase deficiency.; Peroxidase and phospholipid deficiency in eosinophils.; Presentey anomaly.; ", "cross_references": "MeSH; D007960.", "definition": "A rare abnormality without clinical symptoms characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils. ", "keywords": null }, { "identifier": "Enterokinase deficiency.", "acronym": "ENTKD.", "accession": "DI-01528", "synonyms": "Enteropeptidase deficiency.; ", "cross_references": "MedGen; C0268416.", "definition": "Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive. ", "keywords": null }, { "identifier": "Enhanced S cone syndrome.", "acronym": "ESCS.", "accession": "DI-01527", "synonyms": null, "cross_references": "MedGen; C1849394.", "definition": "Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. ", "keywords": null }, { "identifier": "ENDOVE syndrome, limb-only type.", "acronym": "ENDOVESL.", "accession": "DI-06036", "synonyms": "Mesomelia of lower extremities with hand and foot anomalies.; MLEHF.; ", "cross_references": "MeSH; D013576.", "definition": "An autosomal recessive disorder characterized by severe shortening and deformation of the legs and feet, 3/4 syndactyly of the hands, and toenails partially displaced to plantar surface. Radiographs show normal femora but severely shortened tibiae, triangular fibulae and malformed or absent bones in the feet. In addition, genitourinary anomalies have been observed. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "ENDOVE syndrome, limb-brain type.", "acronym": "ENDOVESLB.", "accession": "DI-06037", "synonyms": "Mesomelia of lower extremities with hand, foot, and brain anomalies.; MLEHFB.; ", "cross_references": "MeSH; D001927.", "definition": "An autosomal recessive disorder characterized by marked mesomelic shortening of the lower limbs, severe hypoplasia of the tibia and fibula, absent talus, and rudimentary and short foot bones. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. Affected individuals manifest neurologic symptoms including seizures and generalized hypotonia. Brain imaging reveals absence of the cerebellum and hypoplasia of the brain stem. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Endosteal hyperostosis, Worth type.", "acronym": "WENHY.", "accession": "DI-00450", "synonyms": "Endosteal hyperostosis autosomal dominant.; Hyperostosis corticalis generalisata benign form of Worth with torus palatinus.; Osteosclerosis autosomal dominant.; Worth syndrome.; ", "cross_references": "MeSH; D010009.", "definition": "An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity. ", "keywords": null }, { "identifier": "Endometrial cancer.", "acronym": "ENDMC.", "accession": "DI-01526", "synonyms": null, "cross_references": "MeSH; D016889.", "definition": "A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. ", "keywords": null }, { "identifier": "Endocrine-cerebroosteodysplasia.", "acronym": "ECO.", "accession": "DI-01525", "synonyms": null, "cross_references": "MedGen; C2675227.", "definition": "Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. ", "keywords": null }, { "identifier": "Enchondromatosis multiple.", "acronym": "ENCHOM.", "accession": "DI-01524", "synonyms": "Maffucci disease.; Ollier disease.; Osteochondromatosis.; ", "cross_references": "MeSH; D018210.", "definition": "A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. ", "keywords": null }, { "identifier": "Encephalopathy, progressive, with or without lipodystrophy.", "acronym": "PELD.", "accession": "DI-04174", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy, progressive, with amyotrophy and optic atrophy.", "acronym": "PEAMO.", "accession": "DI-04873", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.", "acronym": "PEERB.", "accession": "DI-05486", "synonyms": null, "cross_references": "MeSH; D012206.", "definition": "An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.", "acronym": "PEBEL2.", "accession": "DI-05478", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.", "acronym": "PEBEL1.", "accession": "DI-04879", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum.", "acronym": "PEBAT.", "accession": "DI-04876", "synonyms": null, "cross_references": "MeSH; D020271.", "definition": "An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.", "acronym": "PEBAS.", "accession": "DI-05100", "synonyms": null, "cross_references": "MeSH; D001927.", "definition": "An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Encephalopathy, porphyria-related.", "acronym": "ENCEP.", "accession": "DI-06842", "synonyms": null, "cross_references": "MeSH; D001927.", "definition": "An autosomal recessive disorder characterized by rapidly progressive neurologic abnormalities apparent in early infancy. Clinical features include global developmental delay, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of porphyrin precursors. Death in childhood may occur. ", "keywords": null }, { "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 } ] }