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"count": 6723,
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{
"identifier": "Xeroderma pigmentosum complementation group F.",
"acronym": "XP-F.",
"accession": "DI-01160",
"synonyms": "Xeroderma pigmentosum VI.; XP6.; XP group F.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group G.",
"acronym": "XP-G.",
"accession": "DI-01161",
"synonyms": "Xeroderma pigmentosum VII.; XP7.; XP-G/CS.; XP group G.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum type F/Cockayne syndrome.",
"acronym": "XPF/CS.",
"accession": "DI-03805",
"synonyms": null,
"cross_references": "MeSH; D014983.",
"definition": "A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum variant type.",
"acronym": "XPV.",
"accession": "DI-01162",
"synonyms": "Xeroderma pigmentosum with normal DNA repair rates.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xerosis and growth failure with immune and pulmonary dysfunction syndrome.",
"acronym": "XGIP.",
"accession": "DI-06762",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "An autosomal recessive disorder characterized by premature birth, severe intrauterine growth deficiency, congenital ichthyosis-like features such as collodion membrane, severe skin peeling and xerosis, and death before the first year of life. Patients also exhibit bronchopulmonary disease, thrombocytopenia, and neutropenia. Additional variable features include cardiac anomalies, seizures, encephalopathy, cholestasis, and cataract. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "XFE progeroid syndrome.",
"acronym": "XFEPS.",
"accession": "DI-02464",
"synonyms": "XPF-ERCC1 progeroid syndrome.; ",
"cross_references": "MeSH; D049914.",
"definition": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Xia-Gibbs syndrome.",
"acronym": "XIGIS.",
"accession": "DI-04125",
"synonyms": "MRD25.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "X-linked agammaglobulinemia.",
"acronym": "XLA.",
"accession": "DI-02427",
"synonyms": "AGMX1.; IMD1.; Immunodeficiency type 1.; X-linked agammaglobulinemia type 1.; ",
"cross_references": "MedGen; C0241932.",
"definition": "Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin. ",
"keywords": null
},
{
"identifier": "X-linked combined immunodeficiency.",
"acronym": "XCID.",
"accession": "DI-02437",
"synonyms": null,
"cross_references": "MedGen; C1706416.",
"definition": "Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. ",
"keywords": null
},
{
"identifier": "X-linked dyserythropoietic anemia and thrombocytopenia.",
"acronym": "XDAT.",
"accession": "DI-02443",
"synonyms": null,
"cross_references": "MedGen; C3550789.",
"definition": "Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. ",
"keywords": null
},
{
"identifier": "Yao syndrome.",
"acronym": "YAOS.",
"accession": "DI-04941",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance. ",
"keywords": null
},
{
"identifier": "Yemenite deaf-blind hypopigmentation syndrome.",
"acronym": "YDBHS.",
"accession": "DI-02466",
"synonyms": null,
"cross_references": "MeSH; D017496.",
"definition": "A disorder characterized by cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Yoon-Bellen neurodevelopmental syndrome.",
"acronym": "YOBELN.",
"accession": "DI-06316",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual development. Additional variable features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and non-specific anomalies on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "You-Hoover-Fong syndrome.",
"acronym": "YHFS.",
"accession": "DI-04744",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Yuksel-Vogel-Bauer syndrome.",
"acronym": "YUVOB.",
"accession": "DI-06841",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by multisystemic manifestations including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. ",
"keywords": null
},
{
"identifier": "Yunis-Varon syndrome.",
"acronym": "YVS.",
"accession": "DI-03789",
"synonyms": "Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia.; ",
"cross_references": "MeSH; D017880.",
"definition": "A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. ",
"keywords": null
},
{
"identifier": "Zaki syndrome.",
"acronym": "ZKS.",
"accession": "DI-06290",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies. ",
"keywords": null
},
{
"identifier": "Ziegler-Huang syndrome.",
"acronym": "ZHS.",
"accession": "DI-06757",
"synonyms": "BMFS8.; Bone marrow failure syndrome 8.; ",
"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. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood. ",
"keywords": null
},
{
"identifier": "Zimmermann-Laband syndrome 1.",
"acronym": "ZLS1.",
"accession": "DI-04477",
"synonyms": "Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly.; Gingival fibromatosis, abnormal fingers, fingernails, nose and ears and splenomegaly.; Laband syndrome.; Zimmermann Laband syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Zimmermann-Laband syndrome 2.",
"acronym": "ZLS2.",
"accession": "DI-04478",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. ",
"keywords": null
}
]
}