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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2400&ordering=-synonyms",
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{
"identifier": "Fetal akinesia deformation sequence 2.",
"acronym": "FADS2.",
"accession": "DI-05535",
"synonyms": null,
"cross_references": "MeSH; D005317.",
"definition": "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fetal akinesia deformation sequence 3.",
"acronym": "FADS3.",
"accession": "DI-05536",
"synonyms": null,
"cross_references": "MeSH; D005317.",
"definition": "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fetal akinesia deformation sequence 4.",
"acronym": "FADS4.",
"accession": "DI-05537",
"synonyms": null,
"cross_references": "MeSH; D005317.",
"definition": "A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies.",
"acronym": "FARIMPD.",
"accession": "DI-06263",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy. ",
"keywords": null
},
{
"identifier": "FG syndrome 2.",
"acronym": "FGS2.",
"accession": "DI-01616",
"synonyms": null,
"cross_references": "MedGen; C1845902.",
"definition": "FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ",
"keywords": null
},
{
"identifier": "FG syndrome 4.",
"acronym": "FGS4.",
"accession": "DI-01617",
"synonyms": null,
"cross_references": "MedGen; C3275356.",
"definition": "FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ",
"keywords": null
},
{
"identifier": "Fibrochondrogenesis 1.",
"acronym": "FBCG1.",
"accession": "DI-03132",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Fibrochondrogenesis 2.",
"acronym": "FBCG2.",
"accession": "DI-03400",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Inflammatory skin and bowel disease, neonatal, 2.",
"acronym": "NISBD2.",
"accession": "DI-04271",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ",
"keywords": null
},
{
"identifier": "Hutchinson-Gilford progeria syndrome.",
"acronym": "HGPS.",
"accession": "DI-01757",
"synonyms": null,
"cross_references": "MedGen; CN070028.",
"definition": "Rare genetic disorder characterized by features reminiscent of marked premature aging. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 57 with autoinflammation.",
"acronym": "IMD57.",
"accession": "DI-05328",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis. ",
"keywords": null
},
{
"identifier": "Fibromuscular dysplasia, multifocal.",
"acronym": "FMDMF.",
"accession": "DI-06112",
"synonyms": null,
"cross_references": "MeSH; D005352.",
"definition": "An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur. ",
"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": "Mitochondrial DNA depletion syndrome 18.",
"acronym": "MTDPS18.",
"accession": "DI-05790",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder characterized by early- onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"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": "Fibrosis of extraocular muscles, congenital, 3B.",
"acronym": "CFEOM3B.",
"accession": "DI-04509",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 5.",
"acronym": "CFEOM5.",
"accession": "DI-04337",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. ",
"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": "Palmoplantar keratoderma, non-epidermolytic, focal 2.",
"acronym": "FNEPPK2.",
"accession": "DI-04445",
"synonyms": null,
"cross_references": "MeSH; D007645.",
"definition": "A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
}
]
}