Human Disease List
GET /api/human_diseases/?format=api&offset=6660&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6680&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6640&ordering=-identifier", "results": [ { "identifier": "Achromatopsia 3.", "acronym": "ACHM3.", "accession": "DI-00023", "synonyms": "Achromatopsia with myopia.; Pingelapese blindness.; Total colorblindness with myopia.; ", "cross_references": "MeSH; D003117.", "definition": "An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. ", "keywords": null }, { "identifier": "Achromatopsia 2.", "acronym": "ACHM2.", "accession": "DI-00022", "synonyms": "Complete achromatopsia.; RMCH2.; Rod monochromacy 2.; Rod monochromatism 2.; Total colorblindness.; ", "cross_references": "MeSH; D003117.", "definition": "An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ", "keywords": null }, { "identifier": "Achondroplasia, severe, with developmental delay and acanthosis nigricans.", "acronym": "SADDAN.", "accession": "DI-04490", "synonyms": "SADDAN dysplasia.; ", "cross_references": "MeSH; D000130.", "definition": "A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Achondroplasia.", "acronym": "ACH.", "accession": "DI-00021", "synonyms": null, "cross_references": "MeSH; D000130.", "definition": "A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Achondrogenesis 2.", "acronym": "ACG2.", "accession": "DI-00020", "synonyms": "ACG-II.; Achondrogenesis-hypochondrogenesis type II.; Achondrogenesis Langer-Saldino type.; Achondrogenesis type II.; ", "cross_references": "MeSH; D010009.", "definition": "An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Achondrogenesis 1B.", "acronym": "ACG1B.", "accession": "DI-00019", "synonyms": "ACG-IB.; Achondrogenesis Fraccaro type.; Achondrogenesis type IB.; Fraccaro achondrogenesis.; ", "cross_references": "MeSH; D010009.", "definition": "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Achondrogenesis 1A.", "acronym": "ACG1A.", "accession": "DI-02719", "synonyms": "ACG-IA.; Achondrogenesis Houston-Harris type.; Achondrogenesis type IA.; ", "cross_references": "MeSH; D010009.", "definition": "A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Acheiropody.", "acronym": "ACHP.", "accession": "DI-01165", "synonyms": "Acheiropodia.; Acheiropody Brazilian type.; ", "cross_references": "MeSH; D006228.", "definition": "Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. ", "keywords": null }, { "identifier": "Achalasia-addisonianism-alacrima syndrome.", "acronym": "AAAS.", "accession": "DI-00018", "synonyms": "ACTH-resistant adrenal insufficiency with achalasia and alacrima.; Addisonian-achalasia syndrome.; Alacrima-achalasia-addisonianism.; Alacrima-achalasia-adrenal insufficiency neurologic disorder.; Allgrove's syndrome.; Allgrove syndrome.; Glucocorticoid deficiency and achalasia.; Hypoadrenalism with achalasia.; Triple-A syndrome.; ", "cross_references": "MeSH; D000309.", "definition": "An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. ", "keywords": null }, { "identifier": "Acetyl-CoA carboxylase-alpha deficiency.", "acronym": "ACACAD.", "accession": "DI-01164", "synonyms": "ACACA deficiency.; ACAC deficiency.; ACC1 deficiency.; ACC deficiency.; Acetyl-CoA carboxylase deficiency.; ", "cross_references": "MeSH; D008052.", "definition": "An autosomal recessive inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. ", "keywords": null }, { "identifier": "Aceruloplasminemia.", "acronym": "ACEP.", "accession": "DI-00017", "synonyms": "Ceruloplasmin deficiency.; NBIA10.; Neurodegeneration with brain iron accumulation 10.; ", "cross_references": "MeSH; D019189.", "definition": "An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. ", "keywords": null }, { "identifier": "ACCES syndrome.", "acronym": "ACCES.", "accession": "DI-06471", "synonyms": "Aplasia cutis congenita with ectrodactyly skeletal syndrome.; ", "cross_references": "MeSH; D004476.", "definition": "An autosomal dominant syndrome characterized by a highly variable phenotypic spectrum. Clinical features include aplasia cutis congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly, and skeletal and neurodevelopmental abnormalities. Craniofacial, cardiac, renal and genital anomalies have also been reported. Affected individuals have early growth deficiencies that improve with age. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Acatalasemia.", "acronym": "ACATLAS.", "accession": "DI-00016", "synonyms": "Acatalasia.; Catalase deficiency.; Takahara's disease.; Takahara disease.; ", "cross_references": "MeSH; D020642.", "definition": "A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait. ", "keywords": null }, { "identifier": "Abruzzo-Erickson syndrome.", "acronym": "ABERS.", "accession": "DI-03763", "synonyms": "X-linked Charge-like syndrome.; ", "cross_references": "MeSH; D019767.", "definition": "A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. ", "keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; " }, { "identifier": "Abnormal hair, joint laxity, and developmental delay.", "acronym": "HJDD.", "accession": "DI-05602", "synonyms": "Pili torti and developmental delay.; ", "cross_references": "MeSH; D006201.", "definition": "An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa. ", "keywords": null }, { "identifier": "Ablepharon-macrostomia syndrome.", "acronym": "AMS.", "accession": "DI-04542", "synonyms": null, "cross_references": "MeSH; D008265.", "definition": "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Abetalipoproteinemia.", "acronym": "ABL.", "accession": "DI-00014", "synonyms": "Acanthocytosis.; Bassen-Kornzweig syndrome.; Microsomal triglyceride transfer protein deficiency.; MTP deficiency.; ", "cross_references": "MeSH; D000012.", "definition": "An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B- containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. ", "keywords": null }, { "identifier": "Abdominal obesity-metabolic syndrome 4.", "acronym": "AOMS4.", "accession": "DI-05676", "synonyms": null, "cross_references": "MeSH; D024821.", "definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ", "keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; " }, { "identifier": "Abdominal obesity-metabolic syndrome 3.", "acronym": "AOMS3.", "accession": "DI-04090", "synonyms": "Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease.; ", "cross_references": "MeSH; D024821.", "definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes. ", "keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; " }, { "identifier": "ABCD syndrome.", "acronym": "ABCDS.", "accession": "DI-00013", "synonyms": "Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness.; ", "cross_references": "MeSH; D014849.", "definition": "An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. ", "keywords": "KW-0015:Albinism.; KW-0209:Deafness.; KW-0367:Hirschsprung disease.; " } ] }