HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3440&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3400&ordering=-synonyms",
"results": [
{
"identifier": "Spinocerebellar ataxia 19.",
"acronym": "SCA19.",
"accession": "DI-03932",
"synonyms": "SCA22.; Spinocerebellar ataxia 22.; ",
"cross_references": "MeSH; D020754.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spinocerebellar ataxia 15.",
"acronym": "SCA15.",
"accession": "DI-01078",
"synonyms": "SCA16.; Spinocerebellar ataxia type 16.; ",
"cross_references": "MeSH; D020754.",
"definition": "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Microcephaly, congenital cataract, and psoriasiform dermatitis.",
"acronym": "MCCPD.",
"accession": "DI-04663",
"synonyms": "SC4MOL deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Ohdo syndrome, SBBYS variant.",
"acronym": "SBBYSS.",
"accession": "DI-03311",
"synonyms": "Say-Barber-Biesecker variant of Ohdo syndrome.; Say-Barber-Biesecker-Young-Simpson syndrome.; Young-Simpson syndrome.; YSS.; ",
"cross_references": "MeSH; D016569.",
"definition": "A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe intellectual disability, delayed motor milestones, and significantly impaired speech. ",
"keywords": null
},
{
"identifier": "Krabbe disease, atypical, due to saposin A deficiency.",
"acronym": "KRBSAPA.",
"accession": "DI-01197",
"synonyms": "Saposin A deficiency.; ",
"cross_references": "MeSH; D007965.",
"definition": "An autosomal recessive disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. ",
"keywords": null
},
{
"identifier": "Hypoparathyroidism-retardation-dysmorphism syndrome.",
"acronym": "HRDS.",
"accession": "DI-01793",
"synonyms": "Sanjad-Sakati syndrome.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE.",
"acronym": "EPKHE.",
"accession": "DI-03968",
"synonyms": "SAM syndrome.; Severe dermatitis, multiple allergies, and metabolic wasting syndrome.; ",
"cross_references": "MeSH; D007645.",
"definition": "A syndrome characterized by severe dermatitis, multiple allergies and metabolic wasting. Clinical features include erythroderma, yellowish papules and plaques arranged at the periphery of the palms, along the fingers and over weight-bearing areas of the feet, skin erosions and scaling, and hypotrichosis. Additionally, patients manifest severe food allergies, elevated immunoglobulin E (IgE) levels and recurrent infections with marked metabolic wasting. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 15.",
"acronym": "SCAR15.",
"accession": "DI-04054",
"synonyms": "Salih ataxia.; ",
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Major depressive disorder.",
"acronym": "MDD.",
"accession": "DI-00697",
"synonyms": "SAD.; Seasonal affective disorder.; Unipolar depression.; ",
"cross_references": "MeSH; D003865.",
"definition": "A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. ",
"keywords": null
},
{
"identifier": "Achondroplasia, severe, with developmental delay and acanthosis nigricans.",
"acronym": "SADDAN.",
"accession": "DI-04490",
"synonyms": "SADDAN dysplasia.; ",
"cross_references": "MeSH; D000130.",
"definition": "A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.",
"acronym": "VACRDS.",
"accession": "DI-06122",
"synonyms": "RYR2 calcium release deficiency syndrome.; ",
"cross_references": "MeSH; D017180.",
"definition": "An autosomal dominant arrhythmogenic disorder characterized by syncope, cardiac arrest and/or sudden unexpected death, often in association with physical exertion or acute emotional stress. Patients who survive manifest polymorphic ventricular tachycardia and ventricular fibrillation. Unlike typical catecholaminergic ventricular tachycardia, arrhythmias are not reproducible on exercise stress testing or adrenaline challenge. ",
"keywords": null
},
{
"identifier": "Silver-Russell syndrome 1.",
"acronym": "SRS1.",
"accession": "DI-02493",
"synonyms": "RSS.; Russell-Silver syndrome.; Silver-Russell dwarfism.; Silver-Russell syndrome.; SRS.; ",
"cross_references": "MeSH; D056730.",
"definition": "A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Smith-Lemli-Opitz syndrome.",
"acronym": "SLOS.",
"accession": "DI-01033",
"synonyms": "RSH syndrome.; Rutledge lethal multiple congenital anomaly syndrome.; SLO syndrome.; ",
"cross_references": "MeSH; D019082.",
"definition": "An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7- dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. ",
"keywords": null
},
{
"identifier": "Retinoschisis juvenile X-linked 1.",
"acronym": "XLRS1.",
"accession": "DI-02450",
"synonyms": "RS1.; ",
"cross_references": "MeSH; D041441.",
"definition": "A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. ",
"keywords": null
},
{
"identifier": "Roussy-Levy syndrome.",
"acronym": "ROULS.",
"accession": "DI-02275",
"synonyms": "Roussy-Levy hereditary areflexic dystasia.; ",
"cross_references": "MedGen; C0205713.",
"definition": "Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. ",
"keywords": null
},
{
"identifier": "Hyperbilirubinemia, Rotor type.",
"acronym": "HBLRR.",
"accession": "DI-03360",
"synonyms": "Rotor syndrome.; ",
"cross_references": "MeSH; D006932.",
"definition": "An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. ",
"keywords": null
},
{
"identifier": "Rothmund-Thomson syndrome 4.",
"acronym": "RTS4.",
"accession": "DI-06901",
"synonyms": "Rothmund-Thomson syndrome, type 4.; ",
"cross_references": "MeSH; D019066.",
"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. Inheritance is autosomal recessive. RTS4 patients also exhibit microcephaly and photosensitivity with bullae. Growth failure is severe, with some individuals showing signs of growth hormone or combined pituitary hormone deficiency. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Long QT syndrome 1.",
"acronym": "LQT1.",
"accession": "DI-00679",
"synonyms": "Romano-Ward syndrome.; RWS.; Ward-Romano syndrome.; ",
"cross_references": "MeSH; D029597.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Syndactyly 3.",
"acronym": "SDTY3.",
"accession": "DI-02352",
"synonyms": "Ring and little finger syndactyly.; Syndactyly of fingers IV and V.; Syndactyly type III.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. ",
"keywords": null
},
{
"identifier": "Loeys-Dietz syndrome 5.",
"acronym": "LDS5.",
"accession": "DI-03991",
"synonyms": "Rienhoff syndrome.; RNHF.; ",
"cross_references": "MeSH; D055947.",
"definition": "A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. ",
"keywords": null
}
]
}