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"results": [
{
"identifier": "Cone-rod dystrophy 10.",
"acronym": "CORD10.",
"accession": "DI-00324",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "GRACILE syndrome.",
"acronym": "GRACILE.",
"accession": "DI-01684",
"synonyms": null,
"cross_references": "MedGen; C1864002.",
"definition": "GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy 11.",
"acronym": "CORD11.",
"accession": "DI-00325",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Bone marrow failure syndrome 5.",
"acronym": "BMFS5.",
"accession": "DI-05371",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy 12.",
"acronym": "CORD12.",
"accession": "DI-00326",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Ichthyosis, spastic quadriplegia, and impaired intellectual development.",
"acronym": "ISQMR.",
"accession": "DI-03376",
"synonyms": null,
"cross_references": "MeSH; D010264.",
"definition": "A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. ",
"keywords": "KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cone-rod dystrophy 13.",
"acronym": "CORD13.",
"accession": "DI-00323",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Bone marrow failure syndrome 6.",
"acronym": "BMFS6.",
"accession": "DI-05796",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy 14.",
"acronym": "CORD14.",
"accession": "DI-05820",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Inflammatory demyelinating polyneuropathy.",
"acronym": "IDP.",
"accession": "DI-01824",
"synonyms": null,
"cross_references": "MedGen; C1841700.",
"definition": "Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy 15.",
"acronym": "CORD15.",
"accession": "DI-02944",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An autosomal recessive retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Greig cephalo-poly-syndactyly syndrome.",
"acronym": "GCPS.",
"accession": "DI-01685",
"synonyms": null,
"cross_references": "MedGen; C0265306.",
"definition": "Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. ",
"keywords": null
},
{
"identifier": "Boomerang dysplasia.",
"acronym": "BOOMD.",
"accession": "DI-01289",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Griscelli syndrome 2.",
"acronym": "GS2.",
"accession": "DI-01687",
"synonyms": null,
"cross_references": "MedGen; C1868679.",
"definition": "Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome. ",
"keywords": null
},
{
"identifier": "Griscelli syndrome 3.",
"acronym": "GS3.",
"accession": "DI-01688",
"synonyms": null,
"cross_references": "MedGen; C1836573.",
"definition": "Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. ",
"keywords": null
},
{
"identifier": "Growth hormone deficiency with pituitary anomalies.",
"acronym": "GHDPA.",
"accession": "DI-02581",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. ",
"keywords": null
},
{
"identifier": "Growth hormone deficiency, isolated partial.",
"acronym": "GHDP.",
"accession": "DI-04331",
"synonyms": null,
"cross_references": "MeSH; D004393.",
"definition": "A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Cone-rod dystrophy 19.",
"acronym": "CORD19.",
"accession": "DI-04129",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Bosley-Salih-Alorainy syndrome.",
"acronym": "BSAS.",
"accession": "DI-01290",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 11.",
"acronym": "RP11.",
"accession": "DI-00978",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
}
]
}