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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3940&ordering=synonyms",
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"results": [
{
"identifier": "Kabuki syndrome 2.",
"acronym": "KABUK2.",
"accession": "DI-03337",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Delayed sleep phase syndrome.",
"acronym": "DSPS.",
"accession": "DI-03211",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 4.",
"acronym": "ASD4.",
"accession": "DI-00152",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.",
"acronym": "JP/HHT.",
"accession": "DI-01855",
"synonyms": null,
"cross_references": "MedGen; C1832942.",
"definition": "JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown. ",
"keywords": null
},
{
"identifier": "Desmosterolosis.",
"acronym": "DESMOS.",
"accession": "DI-01482",
"synonyms": null,
"cross_references": "MedGen; C1865596.",
"definition": "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ",
"keywords": null
},
{
"identifier": "Juvenile myoclonic epilepsy 10.",
"acronym": "EJM10.",
"accession": "DI-05223",
"synonyms": null,
"cross_references": "MeSH; D020190.",
"definition": "A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cataract 50 with or without glaucoma.",
"acronym": "CTRCT50.",
"accession": "DI-06610",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Juvenile arthritis.",
"acronym": "JUVAR.",
"accession": "DI-05771",
"synonyms": null,
"cross_references": "MeSH; D001171.",
"definition": "A rare, familial form of juvenile arthritis characterized by autosomal recessive inheritance and onset in early childhood of symmetric, chronic joint inflammation. It causes joint swelling, pain, stiffness and restricted joint movement. JUVAR has high clinical variability. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. Others display polyarthritis without systemic inflammation. ",
"keywords": null
},
{
"identifier": "Deafness, Y-linked 2.",
"acronym": "DFNY2.",
"accession": "DI-05525",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Joubert syndrome 9.",
"acronym": "JBTS9.",
"accession": "DI-00612",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 8.",
"acronym": "JBTS8.",
"accession": "DI-00611",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Deafness, X-linked, 7.",
"acronym": "DFNX7.",
"accession": "DI-05369",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A congenital form of bilateral mixed or conductive hearing loss, which is progressive in some patients. Additional clinical features include ear anomalies and facial dysmorphism with bilateral ptosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, X-linked, 6.",
"acronym": "DFNX6.",
"accession": "DI-04012",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cataract 39, multiple types.",
"acronym": "CTRCT39.",
"accession": "DI-03806",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrial septal defect 2.",
"acronym": "ASD2.",
"accession": "DI-00150",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non- cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
},
{
"identifier": "Atrial fibrillation, familial, 9.",
"acronym": "ATFB9.",
"accession": "DI-03121",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism.",
"acronym": "KFS4.",
"accession": "DI-04523",
"synonyms": null,
"cross_references": "MeSH; D007714.",
"definition": "A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies. ",
"keywords": null
},
{
"identifier": "Joubert syndrome 6.",
"acronym": "JBTS6.",
"accession": "DI-00609",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 5.",
"acronym": "JBTS5.",
"accession": "DI-00608",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Joubert syndrome 40.",
"acronym": "JBTS40.",
"accession": "DI-06240",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS40 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
}
]
}