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"count": 6723,
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"results": [
{
"identifier": "Neutropenia, severe congenital 9, autosomal dominant.",
"acronym": "SCN9.",
"accession": "DI-06386",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is characterized by onset of neutropenia in the first years of life. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts. Patients with SCN9 do not have 3- methylglutaconic aciduria. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 8, autosomal dominant.",
"acronym": "SCN8.",
"accession": "DI-05750",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 7, autosomal recessive.",
"acronym": "SCN7.",
"accession": "DI-04754",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 6, autosomal recessive.",
"acronym": "SCN6.",
"accession": "DI-04232",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 5, autosomal recessive.",
"acronym": "SCN5.",
"accession": "DI-03813",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 4, autosomal recessive.",
"acronym": "SCN4.",
"accession": "DI-01258",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"identifier": "Neutropenia, severe congenital 2, autosomal dominant.",
"acronym": "SCN2.",
"accession": "DI-01226",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"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": "Neutropenia, severe congenital 1, autosomal dominant.",
"acronym": "SCN1.",
"accession": "DI-01225",
"synonyms": null,
"cross_references": "MeSH; D009503.",
"definition": "A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. ",
"keywords": null
},
{
"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": "Night blindness, congenital stationary, 1G.",
"acronym": "CSNB1G.",
"accession": "DI-04432",
"synonyms": null,
"cross_references": "MeSH; D009755.",
"definition": "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.",
"acronym": "HSNSP.",
"accession": "DI-01256",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"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": "Neuropathy, congenital hypomyelinating, 3.",
"acronym": "CHN3.",
"accession": "DI-05377",
"synonyms": null,
"cross_references": "MeSH; D015417.",
"definition": "A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neurooculorenal syndrome.",
"acronym": "NORS.",
"accession": "DI-06637",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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
}
]
}