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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1200&ordering=-synonyms",
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"results": [
{
"identifier": "Coffin-Lowry syndrome.",
"acronym": "CLS.",
"accession": "DI-00313",
"synonyms": null,
"cross_references": "MeSH; D038921.",
"definition": "An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Benign essential blepharospasm.",
"acronym": "BEB.",
"accession": "DI-00180",
"synonyms": null,
"cross_references": "MeSH; D001764.",
"definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Coffin-Siris syndrome 11.",
"acronym": "CSS11.",
"accession": "DI-05763",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 13.",
"acronym": "COXPD13.",
"accession": "DI-03613",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coffin-Siris syndrome 12.",
"acronym": "CSS12.",
"accession": "DI-06109",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bent bone dysplasia syndrome 2.",
"acronym": "BBDS2.",
"accession": "DI-06527",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 5.",
"acronym": "SIDBA5.",
"accession": "DI-06225",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Coronary heart disease 6.",
"acronym": "CHDS6.",
"accession": "DI-03346",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Coffin-Siris syndrome 5.",
"acronym": "CSS5.",
"accession": "DI-04718",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 6.",
"acronym": "CSS6.",
"accession": "DI-05158",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 7.",
"acronym": "CSS7.",
"accession": "DI-05275",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 8.",
"acronym": "CSS8.",
"accession": "DI-05497",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cognitive impairment with or without cerebellar ataxia.",
"acronym": "CIAT.",
"accession": "DI-03296",
"synonyms": null,
"cross_references": "MeSH; D019954.",
"definition": "A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cornelia de Lange syndrome 5.",
"acronym": "CDLS5.",
"accession": "DI-03541",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cohen-Gibson syndrome.",
"acronym": "COGIS.",
"accession": "DI-05034",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability. ",
"keywords": null
},
{
"identifier": "Cole disease.",
"acronym": "COLED.",
"accession": "DI-03946",
"synonyms": null,
"cross_references": "MeSH; D017496.",
"definition": "A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. ",
"keywords": null
},
{
"identifier": "Beta-ureidopropionase deficiency.",
"acronym": "UPB1D.",
"accession": "DI-01276",
"synonyms": null,
"cross_references": "MeSH; D011686.",
"definition": "An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. ",
"keywords": null
},
{
"identifier": "Cole-Carpenter syndrome 2.",
"acronym": "CLCRP2.",
"accession": "DI-04384",
"synonyms": null,
"cross_references": "MeSH; D010013.",
"definition": "A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive. ",
"keywords": "KW-0989:Craniosynostosis.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Coloboma of optic nerve.",
"acronym": "COLON.",
"accession": "DI-01358",
"synonyms": null,
"cross_references": "MeSH; D009901.",
"definition": "An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. ",
"keywords": null
},
{
"identifier": "Hyperchlorhidrosis, isolated.",
"acronym": "HYCHL.",
"accession": "DI-03013",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. ",
"keywords": null
}
]
}