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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3180&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3140&ordering=synonyms",
"results": [
{
"identifier": "Sitosterolemia 1.",
"acronym": "STSL1.",
"accession": "DI-02308",
"synonyms": "Phytosterolemia.; Shellfish sterolemia.; ",
"cross_references": "MeSH; D008052.",
"definition": "A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. ",
"keywords": null
},
{
"identifier": "Piebald trait.",
"acronym": "PBT.",
"accession": "DI-02164",
"synonyms": "Piebaldism.; ",
"cross_references": "MedGen; C0080024.",
"definition": "Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. ",
"keywords": null
},
{
"identifier": "TARP syndrome.",
"acronym": "TARPS.",
"accession": "DI-02837",
"synonyms": "Pierre Robin syndrome with congenital heart malformation and clubfoot.; Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava.; ",
"cross_references": "MeSH; D003025.",
"definition": "A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. ",
"keywords": null
},
{
"identifier": "Keratinocytic non-epidermolytic nevus.",
"acronym": "KNEN.",
"accession": "DI-01860",
"synonyms": "Pigmented moles.; ",
"cross_references": "MedGen; C3665593.",
"definition": "Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. ",
"keywords": null
},
{
"identifier": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy.",
"acronym": "TIDAND.",
"accession": "DI-02357",
"synonyms": "Pignata Guarino syndrome.; Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy.; Winged helix deficiency.; ",
"cross_references": "MeSH; D009260.",
"definition": "A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Abnormal hair, joint laxity, and developmental delay.",
"acronym": "HJDD.",
"accession": "DI-05602",
"synonyms": "Pili torti and developmental delay.; ",
"cross_references": "MeSH; D006201.",
"definition": "An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa. ",
"keywords": null
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 4.",
"acronym": "CHNG4.",
"accession": "DI-06483",
"synonyms": "Pituitary cretinism.; Thyroid-stimulating hormone deficiency.; Thyrotropin deficiency, isolated.; TSH deficiency.; ",
"cross_references": "MeSH; D003409.",
"definition": "A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Pituitary hormone deficiency, combined, 4.",
"acronym": "CPHD4.",
"accession": "DI-02299",
"synonyms": "Pituitary hormone deficiency combined with or without cerebellar defects.; Short stature pituitary and cerebellar defects and small sella turcica.; ",
"cross_references": "MeSH; D007018.",
"definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Ichthyosis, X-linked.",
"acronym": "IXL.",
"accession": "DI-00592",
"synonyms": "Placental steroid sulfatase deficiency.; Steroid sulfatase deficiency.; ",
"cross_references": "MeSH; D016114.",
"definition": "A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Pierpont syndrome.",
"acronym": "PRPTS.",
"accession": "DI-04736",
"synonyms": "Plantar lipomatosis, unusual facies, and developmental delay.; ",
"cross_references": "MeSH; D019066.",
"definition": "An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia.",
"acronym": "IMD71.",
"accession": "DI-05117",
"synonyms": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.; PLTEID.; ",
"cross_references": "MeSH; D004802.",
"definition": "An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities.",
"acronym": "NEDSPLB.",
"accession": "DI-04528",
"synonyms": "PMGYCHA.; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.; ",
"cross_references": "MeSH; D054220.",
"definition": "A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 7.",
"acronym": "CDCBM7.",
"accession": "DI-02622",
"synonyms": "PMGYSA.; Polymicrogyria, symmetric or asymmetric.; ",
"cross_references": "MeSH; D054220.",
"definition": "A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. ",
"keywords": null
},
{
"identifier": "Microcephaly, short stature, and polymicrogyria with or without seizures.",
"acronym": "MSSP.",
"accession": "DI-03556",
"synonyms": "PMGYS.; Polymicrogyria with seizures.; ",
"cross_references": "MeSH; D054220.",
"definition": "A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe intellectual disability, poor speech, dysarthria and seizures. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures.",
"acronym": "NEDHCS.",
"accession": "DI-03405",
"synonyms": "PMRED.; Psychomotor retardation, epilepsy, and craniofacial dysmorphism.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Pyridoxine-5'-phosphate oxidase deficiency.",
"acronym": "PNPOD.",
"accession": "DI-02235",
"synonyms": "PNPO deficiency.; PNPO-related neonatal epileptic encephalopathy.; Seizures, pyridoxine-resistant, PLP-sensitive.; ",
"cross_references": "MeSH; D012640.",
"definition": "The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,. ",
"keywords": null
},
{
"identifier": "Rothmund-Thomson syndrome 1.",
"acronym": "RTS1.",
"accession": "DI-05679",
"synonyms": "Poikiloderma atrophicans and cataract.; Rothmund-Thomson syndrome, type 1.; ",
"cross_references": "MeSH; D011038.",
"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. RTS1 is an autosomal recessive form not associated with an increased risk of cancer. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Gillessen-Kaesbach-Nishimura syndrome.",
"acronym": "GIKANIS.",
"accession": "DI-04737",
"synonyms": "Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia.; ",
"cross_references": "MeSH; D017044.",
"definition": "A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Polydactyly, postaxial, A7.",
"acronym": "PAPA7.",
"accession": "DI-05052",
"synonyms": "Polydactyly, postaxial, type A7.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet. ",
"keywords": null
},
{
"identifier": "Polydactyly, postaxial, A8.",
"acronym": "PAPA8.",
"accession": "DI-05336",
"synonyms": "Polydactyly, postaxial, type A8.; ",
"cross_references": "MeSH; D017689.",
"definition": "A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. ",
"keywords": null
}
]
}