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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6500&ordering=synonyms",
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"results": [
{
"identifier": "Trichohepatoneurodevelopmental syndrome.",
"acronym": "THNS.",
"accession": "DI-05454",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay. ",
"keywords": null
},
{
"identifier": "Perrault syndrome 4.",
"acronym": "PRLTS4.",
"accession": "DI-03819",
"synonyms": null,
"cross_references": "MeSH; D023961.",
"definition": "An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Perrault syndrome 3.",
"acronym": "PRLTS3.",
"accession": "DI-03818",
"synonyms": null,
"cross_references": "MeSH; D023961.",
"definition": "A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Trichothiodystrophy 2, photosensitive.",
"acronym": "TTD2.",
"accession": "DI-04433",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. ",
"keywords": null
},
{
"identifier": "Perrault syndrome 2.",
"acronym": "PRLTS2.",
"accession": "DI-03615",
"synonyms": null,
"cross_references": "MeSH; D023961.",
"definition": "A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group K.",
"acronym": "PBD-CGK.",
"accession": "DI-02154",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Trichothiodystrophy 5, non-photosensitive.",
"acronym": "TTD5.",
"accession": "DI-04442",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "An X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 6, non-photosensitive.",
"acronym": "TTD6.",
"accession": "DI-04720",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 7, non-photosensitive.",
"acronym": "TTD7.",
"accession": "DI-05638",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Persistent polyclonal B-cell lymphocytosis.",
"acronym": "PPBL.",
"accession": "DI-03717",
"synonyms": null,
"cross_references": "MeSH; D008218.",
"definition": "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 9, non-photosensitive.",
"acronym": "TTD9.",
"accession": "DI-06300",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD9 is an autosomal recessive, non- photosensitive form characterized by brittle hair and nails, scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. ",
"keywords": null
},
{
"identifier": "Trichotillomania.",
"acronym": "TTM.",
"accession": "DI-02830",
"synonyms": null,
"cross_references": "MeSH; D014256.",
"definition": "A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder. ",
"keywords": null
},
{
"identifier": "Peroxisome biogenesis disorder 8B.",
"acronym": "PBD8B.",
"accession": "DI-03590",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long- chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Polycystic liver disease 2 with or without kidney cysts.",
"acronym": "PCLD2.",
"accession": "DI-04751",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. ",
"keywords": null
},
{
"identifier": "Peroxisome biogenesis disorder 14B.",
"acronym": "PBD14B.",
"accession": "DI-03597",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Triokinase and FMN cyclase deficiency syndrome.",
"acronym": "TKFCD.",
"accession": "DI-05786",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Peroxisome biogenesis disorder 10B.",
"acronym": "PBD10B.",
"accession": "DI-04964",
"synonyms": null,
"cross_references": "MeSH; D052919.",
"definition": "A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisomal fatty acyl-CoA reductase 1 disorder.",
"acronym": "PFCRD.",
"accession": "DI-04305",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Periventricular nodular heterotopia 9.",
"acronym": "PVNH9.",
"accession": "DI-05862",
"synonyms": null,
"cross_references": "MeSH; D054091.",
"definition": "A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH9 is an autosomal dominant disorder with incomplete penetrance, characterized by impaired intellectual development, cognitive defects, learning disabilities, and behavior abnormalities. Some patients develop seizures. ",
"keywords": null
},
{
"identifier": "Tropical calcific pancreatitis.",
"acronym": "TCP.",
"accession": "DI-02394",
"synonyms": null,
"cross_references": "MedGen; C1842402.",
"definition": "Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer. ",
"keywords": null
}
]
}