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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1860&ordering=-synonyms",
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"results": [
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4.",
"acronym": "CAMRQ4.",
"accession": "DI-03773",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Glycine encephalopathy 2.",
"acronym": "GCE2.",
"accession": "DI-06697",
"synonyms": null,
"cross_references": "MeSH; D020158.",
"definition": "A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 40.",
"acronym": "IMD40.",
"accession": "DI-04461",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.",
"acronym": "CANVAS.",
"accession": "DI-05548",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Cerebellar atrophy with seizures and variable developmental delay.",
"acronym": "CASVDD.",
"accession": "DI-05616",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 20 with or without anosmia.",
"acronym": "HH20.",
"accession": "DI-03771",
"synonyms": null,
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Cerebellar atrophy, developmental delay, and seizures.",
"acronym": "CADEDS.",
"accession": "DI-05076",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Familial expansile osteolysis.",
"acronym": "FEO.",
"accession": "DI-01568",
"synonyms": null,
"cross_references": "MedGen; C0432292.",
"definition": "Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. ",
"keywords": null
},
{
"identifier": "Cerebellar atrophy, visual impairment, and psychomotor retardation.",
"acronym": "CAVIPMR.",
"accession": "DI-04673",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 25 with anosmia.",
"acronym": "HH25.",
"accession": "DI-05798",
"synonyms": null,
"cross_references": "MeSH; D017436.",
"definition": "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance. ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Immunodeficiency 15B.",
"acronym": "IMD15B.",
"accession": "DI-04000",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.",
"acronym": "PEBEL1.",
"accession": "DI-04879",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Interstitial lung disease 1.",
"acronym": "ILD1.",
"accession": "DI-06268",
"synonyms": null,
"cross_references": "MeSH; D054990.",
"definition": "A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD1 inheritance can be autosomal dominant with incomplete penetrance, and autosomal recessive. ",
"keywords": null
},
{
"identifier": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.",
"acronym": "MMERV.",
"accession": "DI-05330",
"synonyms": null,
"cross_references": "MeSH; D004660.",
"definition": "An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. ",
"keywords": null
},
{
"identifier": "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.",
"acronym": "CDIDHH.",
"accession": "DI-06352",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism. ",
"keywords": "KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 3.",
"acronym": "EKVP3.",
"accession": "DI-05019",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.",
"acronym": "CHEGDD.",
"accession": "DI-05744",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Dystonia 22, juvenile-onset.",
"acronym": "DYT22JO.",
"accession": "DI-06726",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Cerebellar, ocular, craniofacial, and genital syndrome.",
"acronym": "COFG.",
"accession": "DI-05597",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 25, primary, autosomal recessive.",
"acronym": "MCPH25.",
"accession": "DI-05495",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging. ",
"keywords": "KW-0905:Primary microcephaly.; "
}
]
}