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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2980&ordering=-synonyms",
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"results": [
{
"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": "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": "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": "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": "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": "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": "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": "Immunodeficiency 114, folate-responsive.",
"acronym": "IMD114.",
"accession": "DI-06794",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay. ",
"keywords": null
},
{
"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": "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": "Neurodevelopmental disorder with microcephaly, short stature, and speech delay.",
"acronym": "NEDMISS.",
"accession": "DI-06499",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior. ",
"keywords": "KW-0242:Dwarfism.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"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, 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": "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": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.",
"acronym": "HADDTS.",
"accession": "DI-05219",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.",
"acronym": "HIDEA.",
"accession": "DI-05609",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotonia, infantile, with psychomotor retardation.",
"acronym": "IHPMR.",
"accession": "DI-04614",
"synonyms": null,
"cross_references": "MeSH; D011596.",
"definition": "An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 85.",
"acronym": "IMD85.",
"accession": "DI-06218",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by early- onset autoimmunity and features of combined immunodeficiency such as hypogammaglobulinemia and abnormal T-cell function. Clinical manifestations include atopic eczema and recurrent respiratory infections in the first decade of life, autoimmune enteropathy, growth failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. ",
"keywords": null
},
{
"identifier": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.",
"acronym": "IHPRF2.",
"accession": "DI-04645",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinocerebellar ataxia 35.",
"acronym": "SCA35.",
"accession": "DI-03054",
"synonyms": null,
"cross_references": "MeSH; D020754.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
}
]
}