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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2100&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=synonyms",
"results": [
{
"identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 3.",
"acronym": "MCAHS3.",
"accession": "DI-03879",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 7.; GPIBD7.; M syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 3.",
"acronym": "HPMRS3.",
"accession": "DI-03720",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 8.; GPIBD8.; MRT17.; MRT21.; ",
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities.",
"acronym": "NEDDSBA.",
"accession": "DI-04086",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 9.; GPIBD9.; MRT42.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non- specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 1.",
"acronym": "GPIBD1.",
"accession": "DI-01677",
"synonyms": "Glycosylphosphatidylinositol deficiency.; GPID.; ",
"cross_references": "MeSH; D012640.",
"definition": "An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. ",
"keywords": null
},
{
"identifier": "GM2-gangliosidosis AB.",
"acronym": "GM2GAB.",
"accession": "DI-00535",
"synonyms": "GM2 activator deficiency.; GM2-gangliosidosis AB variant.; Hexosaminidase activator deficiency.; Tay-Sachs disease AB variant.; ",
"cross_references": "MeSH; D049290.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. ",
"keywords": "KW-0331:Gangliosidosis.; "
},
{
"identifier": "GM2-gangliosidosis 1.",
"acronym": "GM2G1.",
"accession": "DI-00536",
"synonyms": "GM2-gangliosidosis B variant.; HEXA deficiency.; Hexosaminidase A deficiency.; Tay-Sachs disease.; Tay-Sachs disease pseudo-AB variant.; Tay-Sachs disease variant B1.; TSD.; ",
"cross_references": "MeSH; D013661.",
"definition": "An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). ",
"keywords": "KW-0331:Gangliosidosis.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Gnathodiaphyseal dysplasia.",
"acronym": "GDD.",
"accession": "DI-01679",
"synonyms": "Gnathodiaphyseal sclerosis.; Osteogenesis imperfecta with unusual skeletal lesions.; ",
"cross_references": "MeSH; D010013.",
"definition": "Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Nonaka myopathy.",
"acronym": "NM.",
"accession": "DI-02070",
"synonyms": "GNE myopathy.; HIBM.; IBM2.; Inclusion body myopathy, hereditary, autosomal recessive.; Inclusion body myopathy, quadriceps-sparing.; Inclusion body myopathy 2, autosomal recessive.; Myopathy, distal, with or without rimmed vacuoles.; Myopathy, distal, with rimmed vacuoles.; Nonaka distal myopathy.; QSM.; ",
"cross_references": "MeSH; D049310.",
"definition": "An autosomal recessive myopathy characterized by early adult onset and progressive distal muscle weakness that preferentially affects the anterior tibial muscles, usually sparing the quadriceps femoris. Some individuals may have involvement of the upper limbs or proximal muscles. Muscle biopsy reveals presence of rimmed vacuoles. ",
"keywords": null
},
{
"identifier": "Renpenning syndrome 1.",
"acronym": "RENS1.",
"accession": "DI-02260",
"synonyms": "Golabi-Ito-Hall syndrome.; MRX55.; MRXS3.; MRXS8.; SHS.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked syndrome characterized by intellectual disability, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Goldberg-Shprintzen syndrome.",
"acronym": "GOSHS.",
"accession": "DI-01681",
"synonyms": "Goldberg-Shprintzen megacolon syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Odontochondrodysplasia 1.",
"acronym": "ODCD1.",
"accession": "DI-05493",
"synonyms": "Goldblatt syndrome.; ODCD.; Spondylometaphyseal dysplasia with dentinogenesis imperfecta.; ",
"cross_references": "MeSH; D014071.",
"definition": "An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone- shaped epiphyses. ",
"keywords": null
},
{
"identifier": "Trichomegaly.",
"acronym": "TCMGLY.",
"accession": "DI-04213",
"synonyms": "Goldstein Hutt syndrome.; Long eyelashes.; Movie lashes.; ",
"cross_references": "MeSH; D005128.",
"definition": "A morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. ",
"keywords": null
},
{
"identifier": "Ovarian dysgenesis 1.",
"acronym": "ODG1.",
"accession": "DI-02115",
"synonyms": "Gonadal dysgenesis XX type.; Hypergonadotropic ovarian dysgenesis autosomal recessive.; Hypergonadotropic ovarian dysgenesis with normal karyotype.; Hypergonadotropic ovarian failure.; XXGD.; XX gonadal dysgenesis.; ",
"cross_references": "MeSH; D023961.",
"definition": "An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle- stimulating hormone (FSH) and luteinizing hormone (LH). ",
"keywords": null
},
{
"identifier": "Perrault syndrome 1.",
"acronym": "PRLTS1.",
"accession": "DI-03133",
"synonyms": "Gonadal dysgenesis XX type with deafness.; Ovarian dysgenesis with sensorineural deafness.; ",
"cross_references": "MeSH; D023961.",
"definition": "A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild intellectual disability and cerebellar and peripheral nervous system involvement. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Brain small vessel disease 2.",
"acronym": "BSVD2.",
"accession": "DI-03378",
"synonyms": "Gould syndrome 2.; POREN2.; Porencephaly 2.; ",
"cross_references": "MeSH; D001927.",
"definition": "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia with joint dislocations, GPAPP type.",
"acronym": "CDP-GPAPP.",
"accession": "DI-03139",
"synonyms": "GPAPP deficiency.; ",
"cross_references": "MeSH; D010009.",
"definition": "A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 59 and hypoglycemia.",
"acronym": "IMD59.",
"accession": "DI-05441",
"synonyms": "Granulocytopenia with immunoglobulin abnormality.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunologic disorder characterized by combined immunodeficiency, granulocytopenia, B-cell and dendritic cell deficiency, recurrent septic infections of the respiratory tract, skin and mucous membranes, and disturbed glucose metabolism. ",
"keywords": null
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 5.",
"acronym": "CGD5.",
"accession": "DI-05870",
"synonyms": "Granulomatous disease, chronic, due to CYBC1 deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Silver-Russell syndrome 3.",
"acronym": "SRS3.",
"accession": "DI-04494",
"synonyms": "GRDF.; Growth restriction, severe, with distinctive facies.; ",
"cross_references": "MeSH; D004392.",
"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. SRS3 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Hyperbiliverdinemia.",
"acronym": "HBLVD.",
"accession": "DI-03209",
"synonyms": "Green jaundice.; ",
"cross_references": "MeSH; D002779.",
"definition": "A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. ",
"keywords": null
}
]
}