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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=80&ordering=synonyms",
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"results": [
{
"identifier": "Bartter syndrome 2, antenatal.",
"acronym": "BARTS2.",
"accession": "DI-00174",
"synonyms": "aBS2.; Antenatal Bartter syndrome 2.; Bartter syndrome 2.; BS2.; Hyperprostanglandin E syndrome 2.; Hypokalemic alkalosis with hypercalciuria antenatal 2.; ",
"cross_references": "MeSH; D001477.",
"definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. ",
"keywords": "KW-0910:Bartter syndrome.; "
},
{
"identifier": "Adams-Oliver syndrome 1.",
"acronym": "AOS1.",
"accession": "DI-03194",
"synonyms": "Absence defect of limbs scalp and skull.; Aplasia cutis congenita with terminal transverse limb defects.; Congenital scalp defects with distal limb reduction anomalies.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Birbeck granule deficiency.",
"acronym": "BIRGD.",
"accession": "DI-02857",
"synonyms": "Absence of Birbeck granules.; ",
"cross_references": "MedGen; C3150657.",
"definition": "A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity. ",
"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
},
{
"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": "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, 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": "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": "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": "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": "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": "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": "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": "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 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": "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": "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": "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": "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": "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
}
]
}