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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4660&ordering=synonyms",
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"results": [
{
"identifier": "Arthrogryposis multiplex congenita 5.",
"acronym": "AMC5.",
"accession": "DI-05874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor. ",
"keywords": null
},
{
"identifier": "Hypotonia, ataxia, and delayed development syndrome.",
"acronym": "HADDS.",
"accession": "DI-04945",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 9.",
"acronym": "CHNG9.",
"accession": "DI-05651",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 8.",
"acronym": "CHNG8.",
"accession": "DI-05650",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 6.",
"acronym": "CHNG6.",
"accession": "DI-03343",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 5.",
"acronym": "CHNG5.",
"accession": "DI-01404",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Corneal dystrophy, punctiform and polychromatic pre-Descemet.",
"acronym": "PPPCD.",
"accession": "DI-06421",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hypothyroidism, central, and testicular enlargement.",
"acronym": "CHTE.",
"accession": "DI-03629",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Hypotaurinemic retinal degeneration and cardiomyopathy.",
"acronym": "HTRDC.",
"accession": "DI-06123",
"synonyms": null,
"cross_references": "MeSH; D012162.",
"definition": "An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Hypospadias 2, X-linked.",
"acronym": "HYSP2.",
"accession": "DI-02448",
"synonyms": null,
"cross_references": "MeSH; D007021.",
"definition": "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 4.",
"acronym": "PPCD4.",
"accession": "DI-05267",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hypospadias 1, X-linked.",
"acronym": "HYSP1.",
"accession": "DI-03834",
"synonyms": null,
"cross_references": "MeSH; D007021.",
"definition": "A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. ",
"keywords": null
},
{
"identifier": "Hypoplastic left heart syndrome 2.",
"acronym": "HLHS2.",
"accession": "DI-03342",
"synonyms": null,
"cross_references": "MeSH; D018636.",
"definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ",
"keywords": null
},
{
"identifier": "Hypoplastic left heart syndrome 1.",
"acronym": "HLHS1.",
"accession": "DI-01799",
"synonyms": null,
"cross_references": "MeSH; D018636.",
"definition": "A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ",
"keywords": null
},
{
"identifier": "Hypoplastic femurs and pelvis.",
"acronym": "HYPOFP.",
"accession": "DI-06232",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 3.",
"acronym": "PPCD3.",
"accession": "DI-02186",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Corneal dystrophy, posterior polymorphous, 2.",
"acronym": "PPCD2.",
"accession": "DI-02185",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hypopigmentation, organomegaly, and delayed myelination and development.",
"acronym": "HOD.",
"accession": "DI-05637",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. ",
"keywords": null
},
{
"identifier": "Hypophosphatemic rickets, X-linked recessive.",
"acronym": "XLHRR.",
"accession": "DI-00574",
"synonyms": null,
"cross_references": "MeSH; D053098.",
"definition": "A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLHRR patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, Meesmann 2.",
"acronym": "MECD2.",
"accession": "DI-05754",
"synonyms": null,
"cross_references": "MeSH; D053559.",
"definition": "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant. ",
"keywords": "KW-1212:Corneal dystrophy.; "
}
]
}