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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=520&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=480&ordering=synonyms",
"results": [
{
"identifier": "Alpha-thalassemia/impaired intellectual development syndrome, X-linked.",
"acronym": "ATRX.",
"accession": "DI-02428",
"synonyms": "ATR nondeletion type.; ATR-X.; ATR-X syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Norrie disease.",
"acronym": "ND.",
"accession": "DI-02079",
"synonyms": "Atrophia bulborum hereditaria.; Episkopi blindness.; ",
"cross_references": "MedGen; C0266526.",
"definition": "Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. ",
"keywords": null
},
{
"identifier": "Leukemia, chronic myeloid, atypical.",
"acronym": "ACML.",
"accession": "DI-03829",
"synonyms": "Atypical chronic myeloid leukemia BCR-ABL1 negative.; ",
"cross_references": "MeSH; D015464.",
"definition": "A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss. ",
"keywords": null
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 4.",
"acronym": "AHUS4.",
"accession": "DI-02599",
"synonyms": "Atypical hemolytic uremic syndrome with B factor anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 5.",
"acronym": "AHUS5.",
"accession": "DI-02600",
"synonyms": "Atypical hemolytic uremic syndrome with C3 anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 3.",
"acronym": "AHUS3.",
"accession": "DI-02598",
"synonyms": "Atypical hemolytic uremic syndrome with I factor anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 6.",
"acronym": "AHUS6.",
"accession": "DI-02601",
"synonyms": "Atypical hemolytic uremic syndrome with thrombomodulin anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Hemolytic uremic syndrome, atypical, 2.",
"acronym": "AHUS2.",
"accession": "DI-02597",
"synonyms": "Atypical hemolytic uremic with MCP or CD46 anomaly.; ",
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Neurodegeneration with brain iron accumulation 2B.",
"acronym": "NBIA2B.",
"accession": "DI-02043",
"synonyms": "Atypical neuroaxonal dystrophy.; Karak syndrome.; Neurodegeneration with brain iron accumulation PLA2G6-related.; ",
"cross_references": "MeSH; D019189.",
"definition": "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Parkinson disease 1, autosomal dominant.",
"acronym": "PARK1.",
"accession": "DI-01223",
"synonyms": "Atypical parkinson disease.; Lewy body parkinsonism.; Parkinson disease autosomal dominant 1.; Parkinson disease familial type 1.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Peroxisome biogenesis disorder 9B.",
"acronym": "PBD9B.",
"accession": "DI-03591",
"synonyms": "Atypical peroxisome biogenesis disorder PEX7-related.; Refsum disease adult 2.; ",
"cross_references": "MeSH; D012035.",
"definition": "A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 2.",
"acronym": "DEE2.",
"accession": "DI-00472",
"synonyms": "Atypical Rett syndrome CDKL5-related.; Atypical Rett syndrome Hanefeld variant.; EIEE2.; Epileptic encephalopathy, early infantile, 2.; Infantile spasm syndrome X-linked 2.; ISSX2.; Rett syndrome early-onset seizure variant.; Rett syndrome variant with infantile spasms.; ",
"cross_references": "MeSH; D013036.",
"definition": "A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, B.",
"acronym": "HPABH4B.",
"accession": "DI-00538",
"synonyms": "Atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency.; GCH1 deficiency.; Guanosine triphosphate cyclohydrolase I deficiency.; Hyperphenylalaninemia with neopterin deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia. ",
"keywords": null
},
{
"identifier": "Rhabdoid tumor predisposition syndrome 1.",
"acronym": "RTPS1.",
"accession": "DI-02266",
"synonyms": "Atypical teratoid tumor.; Malignant rhabdoid tumor somatic.; MRT.; RDT.; Rhabdoid tumor.; ",
"cross_references": "MeSH; D018335.",
"definition": "A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. ",
"keywords": null
},
{
"identifier": "Deafness, X-linked, 5, with peripheral neuropathy.",
"acronym": "DFNX5.",
"accession": "DI-04610",
"synonyms": "Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy.; AUNX1.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Au-Kline syndrome.",
"acronym": "AUKS.",
"accession": "DI-04555",
"synonyms": "Au-Kline-Okamoto syndrome.; Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation.; Okamoto syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Aural atresia, congenital.",
"acronym": "CAA.",
"accession": "DI-03316",
"synonyms": "Aural atresia, congenital, with hyposmia.; ",
"cross_references": "MeSH; D006314.",
"definition": "A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with autism and macrocephaly.",
"acronym": "IDDAM.",
"accession": "DI-03675",
"synonyms": "Autism 18.; AUTS18.; ",
"cross_references": "MeSH; D001321.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Other common features include tall stature, gastrointestinal symptoms, distinct facial features, sleep problems, and attention problems. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Intellectual developmental disorder with autism and speech delay.",
"acronym": "IDDAS.",
"accession": "DI-05442",
"synonyms": "Autism 5.; Autism-related speech delay.; AUTS5.; Phrase speech delay, autism-related.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Rett syndrome.",
"acronym": "RTT.",
"accession": "DI-00999",
"synonyms": "Autism-dementia-ataxia-loss of purposeful hand use.; Rett disorder.; Rett syndrome preserved speech variant.; Rett syndrome Zappella variant.; RTS.; ",
"cross_references": "MeSH; D015518.",
"definition": "An X-linked dominant neurodevelopmental disorder, and one of the most common causes of intellectual disability in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, intellectual disability and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
}
]
}