HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6660&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6620&ordering=-synonyms",
"results": [
{
"identifier": "Amyloidosis, primary localized cutaneous, 3.",
"acronym": "PLCA3.",
"accession": "DI-05216",
"synonyms": "ACD.; Amyloidosis cutis dyschromica.; ",
"cross_references": "MeSH; D028226.",
"definition": "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Alveolar capillary dysplasia with misalignment of pulmonary veins.",
"acronym": "ACDMPV.",
"accession": "DI-02714",
"synonyms": "ACD.; Alveolar capillary dysplasia.; Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies.; ",
"cross_references": "MeSH; D010547.",
"definition": "A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right- left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn. ",
"keywords": null
},
{
"identifier": "Agenesis of the corpus callosum, with abnormal genitalia.",
"acronym": "ACCAG.",
"accession": "DI-01175",
"synonyms": "ACC with abnormal genitalia.; Corpus callosum, agenesis of, with abnormal genitalia.; Micrencephaly-corpus callosum agenesis-abnormal genitalia.; Proud-Levine-Carpenter syndrome.; Proud syndrome.; ",
"cross_references": "MeSH; D009421.",
"definition": "An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. ",
"keywords": null
},
{
"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": "Choreoacanthocytosis.",
"acronym": "CHAC.",
"accession": "DI-01344",
"synonyms": "Acanthocytosis with neurologic disorder.; Chorea-acanthocytosis.; Levine-Critchley syndrome.; Neuroacanthocytosis.; ",
"cross_references": "MeSH; D054546.",
"definition": "An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self- mutilation. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Hypobetalipoproteinemia, familial, 1.",
"acronym": "FHBL1.",
"accession": "DI-01587",
"synonyms": "Acanthocytosis with hypobetalipoproteinemia.; Familial hypobetalipoproteinemia.; FHBL.; Normotriglyceridemic hypobetalipoproteinemia.; ",
"cross_references": "MeSH; D006995.",
"definition": "A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. ",
"keywords": null
},
{
"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": "Campomelic dysplasia.",
"acronym": "CMD1.",
"accession": "DI-01311",
"synonyms": "Acampomelic campomelic dysplasia.; Acampomelic campomelic dysplasia with autosomal sex reversal.; Campomelic dysplasia with autosomal sex reversal.; Camptomelic dysplasia.; CMPD.; CMPD1.; CMPD1/SRA1.; ",
"cross_references": "MeSH; D055036.",
"definition": "A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase short-chain deficiency.",
"acronym": "ACADSD.",
"accession": "DI-02301",
"synonyms": "ACADS deficiency.; Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency.; SCAD deficiency.; SCADH deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid- storage myopathy in adults. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase medium-chain deficiency.",
"acronym": "ACADMD.",
"accession": "DI-01956",
"synonyms": "ACADM deficiency.; Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency.; MCAD deficiency.; MCADH deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase very long-chain deficiency.",
"acronym": "ACADVLD.",
"accession": "DI-02411",
"synonyms": "ACADL deficiency.; Acyl-CoA dehydrogenase long-chain deficiency.; LCAD deficiency.; VLCAD deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. ",
"keywords": null
},
{
"identifier": "Usher syndrome 1C.",
"acronym": "USH1C.",
"accession": "DI-01113",
"synonyms": "Acadian Usher syndrome.; Usher's syndrome type 1C.; Usher syndrome type I Acadian variety.; Usher syndrome type IC.; ",
"cross_references": "MeSH; D052245.",
"definition": "USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. ",
"keywords": "KW-0682:Retinitis pigmentosa.; KW-0836:Usher syndrome.; "
},
{
"identifier": "Mitochondrial complex I deficiency, nuclear type 20.",
"acronym": "MC1DN20.",
"accession": "DI-01173",
"synonyms": "ACAD9 deficiency.; Acyl-CoA dehydrogenase family, member 9, deficiency.; Mitochondrial complex I deficiency due to ACAD9 deficiency.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Isobutyryl-CoA dehydrogenase deficiency.",
"acronym": "IBDD.",
"accession": "DI-01836",
"synonyms": "ACAD8 deficiency.; Deficiency of acyl-CoA dehydrogenase family member 8.; IBD deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. ",
"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": "Thrombocytopenia-absent radius syndrome.",
"acronym": "TAR.",
"accession": "DI-04993",
"synonyms": "Absent radii and thrombocytopenia.; Radial aplasia-thrombocytopenia syndrome.; TAR syndrome.; ",
"cross_references": "MeSH; D038062.",
"definition": "An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 1.",
"acronym": "STHAG1.",
"accession": "DI-01211",
"synonyms": "Absence of second premolars and third molars.; Familial tooth agenesis.; HYD1.; Hypodontia/oligodontia 1.; Hypodontia/oligodontia with orofacial cleft.; Selective tooth agenesis 1.; Selective tooth agenesis with orofacial cleft.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients. ",
"keywords": null
},
{
"identifier": "Aplasia of lacrimal and salivary glands.",
"acronym": "ALSG.",
"accession": "DI-01199",
"synonyms": "Absence of salivary glands.; Parotid aplasia or hypoplasia.; ",
"cross_references": "MeSH; D014987.",
"definition": "A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 4.",
"acronym": "STHAG4.",
"accession": "DI-03619",
"synonyms": "Absence of lateral incisors.; Agenesis of succedaneous teeth.; Pegged or missing lateral incisors.; Selective tooth agenesis 4.; Tooth agenesis, selective, 4, with or without ectodermal dysplasia.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg- shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Adermatoglyphia.",
"acronym": "ADERM.",
"accession": "DI-03267",
"synonyms": "Absence of fingerprints.; Immigration delay disease.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. ",
"keywords": null
}
]
}