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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5580&ordering=synonyms",
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"results": [
{
"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": "Avascular necrosis of the femoral head, primary 2.",
"acronym": "ANFH2.",
"accession": "DI-04965",
"synonyms": null,
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ",
"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": "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": "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": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.",
"acronym": "IHPRF3.",
"accession": "DI-04694",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. ",
"keywords": null
},
{
"identifier": "Hypotonia-cystinuria syndrome.",
"acronym": "HCS.",
"accession": "DI-01801",
"synonyms": null,
"cross_references": "MedGen; C1848030.",
"definition": "Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. ",
"keywords": null
},
{
"identifier": "Hypotrichosis 11.",
"acronym": "HYPT11.",
"accession": "DI-03644",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 12.",
"acronym": "HYPT12.",
"accession": "DI-04148",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 14.",
"acronym": "HYPT14.",
"accession": "DI-05448",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 15.",
"acronym": "HYPT15.",
"accession": "DI-06567",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT15 is an autosomal recessive form characterized by sparse to absent scalp and body hair. Eyebrows and eyelashes may be sparse or absent as well. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Autoinflammatory-pancytopenia syndrome.",
"acronym": "AIPCS.",
"accession": "DI-06407",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ",
"keywords": null
}
]
}