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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1180",
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"results": [
{
"identifier": "Coenzyme Q10 deficiency, primary, 3.",
"acronym": "COQ10D3.",
"accession": "DI-03447",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 4.",
"acronym": "COQ10D4.",
"accession": "DI-01063",
"synonyms": "ARCA2.; Autosomal recessive cerebellar ataxia type 2.; SCAR9.; Spinocerebellar ataxia autosomal recessive 9.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. ",
"keywords": "KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 5.",
"acronym": "COQ10D5.",
"accession": "DI-03448",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 6.",
"acronym": "COQ10D6.",
"accession": "DI-03445",
"synonyms": "SRNS with sensorineural deafness.; Steroid-resistant nephrotic syndrome with sensorineural deafness.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. ",
"keywords": "KW-0209:Deafness.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 7.",
"acronym": "COQ10D7.",
"accession": "DI-04354",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 8.",
"acronym": "COQ10D8.",
"accession": "DI-04625",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 9.",
"acronym": "COQ10D9.",
"accession": "DI-05918",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"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": "Coffin-Siris syndrome 1.",
"acronym": "CSS1.",
"accession": "DI-04692",
"synonyms": "Coffin-Siris syndrome.; CSS.; Fifth digit syndrome.; HHID.; MRD12.; ",
"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 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": "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": "Coffin-Siris syndrome 2.",
"acronym": "CSS2.",
"accession": "DI-03453",
"synonyms": "MRD14.; ",
"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 3.",
"acronym": "CSS3.",
"accession": "DI-03454",
"synonyms": "MRD15.; ",
"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 4.",
"acronym": "CSS4.",
"accession": "DI-03455",
"synonyms": "MRD16.; ",
"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 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": "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
}
]
}