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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3360&ordering=synonyms",
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"results": [
{
"identifier": "Cranioectodermal dysplasia 3.",
"acronym": "CED3.",
"accession": "DI-03183",
"synonyms": "Sensenbrenner syndrome 3.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Cranioectodermal dysplasia 4.",
"acronym": "CED4.",
"accession": "DI-03327",
"synonyms": "Sensenbrenner syndrome 4.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs.",
"acronym": "SERKAL.",
"accession": "DI-01613",
"synonyms": "SERKAL syndrome.; ",
"cross_references": "MeSH; D058531.",
"definition": "A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs. ",
"keywords": null
},
{
"identifier": "Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative.",
"acronym": "T(-)B(+)NK(-) SCID.",
"accession": "DI-01017",
"synonyms": "Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-negative.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell negative.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Autoinflammation with episodic fever and immune dysregulation.",
"acronym": "AIFID.",
"accession": "DI-06889",
"synonyms": "Sharpenia.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive disorder characterized by recurrent fever and autoinflammation with onset in infancy or early childhood. Variable clinical manifestations include lymphadenopathy, hepatosplenomegaly, gastrointestinal inflammation, polyarthritis and joint inflammation, parotitis, and immune dysregulation. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, sponastrime type.",
"acronym": "SEMDSP.",
"accession": "DI-05624",
"synonyms": "Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation.; Sponastrime dysplasia.; Spondylar and nasal alterations with striated metaphyses.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Short-rib thoracic dysplasia 8 with or without polydactyly.",
"acronym": "SRTD8.",
"accession": "DI-03926",
"synonyms": "Short rib-polydactyly syndrome type VI.; SRPS6.; SRPS type VI.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Short-rib thoracic dysplasia 7 with or without polydactyly.",
"acronym": "SRTD7.",
"accession": "DI-03182",
"synonyms": "Short rib-polydactyly syndrome type V.; SRPS5.; SRPS type V.; ",
"cross_references": "MeSH; D012779.",
"definition": "A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Short stature, brachydactyly, impaired intellectual developmental, and seizures.",
"acronym": "SBIDDS.",
"accession": "DI-04865",
"synonyms": "Short stature, brachydactyly, intellectual developmental disability, and seizures.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by developmental delay, learning disabilities, mild intellectual disability, delayed speech, and skeletal abnormalities. Skeletal features include short stature, brachydactyly, and short metacarpals and metatarsals. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Short stature-micrognathia syndrome.",
"acronym": "SSMG.",
"accession": "DI-04856",
"synonyms": "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.; SRMMD.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal dominant disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Rothmund-Thomson syndrome 3.",
"acronym": "RTS3.",
"accession": "DI-04112",
"synonyms": "Short stature with microcephaly and distinctive facies.; SSMCF.; ",
"cross_references": "MeSH; D019066.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Sialuria.",
"acronym": "SIALURIA.",
"accession": "DI-02305",
"synonyms": "Sialuria French type.; ",
"cross_references": "MedGen; C2931471.",
"definition": "In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Sickle cell disease.",
"acronym": "SKCA.",
"accession": "DI-02306",
"synonyms": "Sickle cell anemia.; ",
"cross_references": "MedGen; C0002895.",
"definition": "Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. ",
"keywords": null
},
{
"identifier": "Long QT syndrome 4.",
"acronym": "LQT4.",
"accession": "DI-00682",
"synonyms": "Sick sinus syndrome with bradycardia.; ",
"cross_references": "MeSH; D008133.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Siderius type.",
"acronym": "MRXSSD.",
"accession": "DI-01966",
"synonyms": "Siderius-Hamel syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by mild to borderline intellectual disability with or without cleft lip/cleft palate. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Spastic paraplegia 17, autosomal dominant.",
"acronym": "SPG17.",
"accession": "DI-01050",
"synonyms": "Silver spastic paraplegia syndrome.; Silver syndrome.; Spastic paraplegia with amyotrophy of hands and feet.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies.",
"acronym": "SIMHA.",
"accession": "DI-06249",
"synonyms": "SIMHA syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Heterotaxy, visceral, 5, autosomal.",
"acronym": "HTX5.",
"accession": "DI-01030",
"synonyms": "Situs inversus viscerum.; SIV.; ",
"cross_references": "MeSH; D059446.",
"definition": "An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Kosaki overgrowth syndrome.",
"acronym": "KOGS.",
"accession": "DI-04560",
"synonyms": "Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration.; ",
"cross_references": "MeSH; D006130.",
"definition": "A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging. ",
"keywords": null
},
{
"identifier": "Vitiligo-associated multiple autoimmune disease 1.",
"acronym": "VAMAS1.",
"accession": "DI-02736",
"synonyms": "SLEV1.; Systemic lupus erythematosus vitiligo-related.; ",
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. ",
"keywords": null
}
]
}