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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5920&ordering=-synonyms",
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"results": [
{
"identifier": "Carbamoyl phosphate synthetase 1 deficiency.",
"acronym": "CPS1D.",
"accession": "DI-00209",
"synonyms": "Carbamoyl phosphate synthetase I deficiency.; CPS I deficiency.; Hyperammonemia due to carbamoyl phosphate synthetase I deficiency.; ",
"cross_references": "MeSH; D020165.",
"definition": "An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and intellectual disability. ",
"keywords": null
},
{
"identifier": "Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy.",
"acronym": "CARASIL.",
"accession": "DI-02549",
"synonyms": "CARASIL syndrome.; Cerebrovascular disease with thin skin, alopecia, and disk disease.; Maeda syndrome.; Progressive subcortical vascular encephalopathy.; Subcortical vascular encephalopathy, progressive.; ",
"cross_references": "MeSH; D015140.",
"definition": "A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers. ",
"keywords": null
},
{
"identifier": "Chronic infantile neurologic cutaneous and articular syndrome.",
"acronym": "CINCA.",
"accession": "DI-01349",
"synonyms": "CAPS3.; CINCA syndrome.; Cryopyrin-associated periodic syndrome 3.; Neonatal onset multisystem inflammatory disease.; NOMID.; ",
"cross_references": "MeSH; D056587.",
"definition": "Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. ",
"keywords": null
},
{
"identifier": "Familial cold autoinflammatory syndrome 1.",
"acronym": "FCAS1.",
"accession": "DI-01561",
"synonyms": "CAPS1.; Cold hypersensitivity.; Cryopyrin-associated periodic syndrome 1.; Familial cold-induced autoinflammatory syndrome.; Familial cold urticaria.; FCAS.; FCU.; ",
"cross_references": "MeSH; D056587.",
"definition": "A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.",
"acronym": "CAPOS.",
"accession": "DI-04236",
"synonyms": "CAPOS syndrome.; ",
"cross_references": "MeSH; D009896.",
"definition": "An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Congenital myopathy 23.",
"acronym": "CMYP23.",
"accession": "DI-02035",
"synonyms": "CAPM2.; Cap myopathy 2.; NEM4.; Nemaline myopathy 4.; TPM2-related nemaline myopathy.; ",
"cross_references": "MeSH; D017696.",
"definition": "An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Congenital myopathy 4A, autosomal dominant.",
"acronym": "CMYP4A.",
"accession": "DI-01413",
"synonyms": "CAPM1.; CAP myopathy 1.; CFTD.; CFTDM.; Congenital fiber-type disproportion myopathy.; Myopathy, congenital, with fiber-type disproportion.; NEM1.; Nemaline myopathy 1.; ",
"cross_references": "MeSH; D020914.",
"definition": "A muscular disorder characterized by onset of muscle weakness in infancy or childhood. Most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity. Skeletal muscle biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion. ",
"keywords": null
},
{
"identifier": "Capillary malformations, congenital.",
"acronym": "CMC.",
"accession": "DI-03786",
"synonyms": "Capillary malformations.; CMAL.; Familial multiple nevi flammei.; Hereditary capillary malformations.; Port-wine stain.; ",
"cross_references": "MeSH; D054079.",
"definition": "A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. ",
"keywords": null
},
{
"identifier": "CLAPO syndrome.",
"acronym": "CLAPO.",
"accession": "DI-05367",
"synonyms": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.; Lopez-Gutierrez syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth. ",
"keywords": null
},
{
"identifier": "Dentinogenesis imperfecta, Shields type 2.",
"acronym": "DGI2.",
"accession": "DI-01479",
"synonyms": "Capdepont teeth.; Dentinogenesis imperfecta 1.; Dentinogenesis imperfecta Shields type II.; Dentinogenesis imperfecta without osteogenesis imperfecta.; DGI1.; DGI-II.; Non-syndromic dentinogenesis imperfecta.; Non-syndromic DGI.; Opalescent dentin.; Opalescent teeth without osteogenesis imperfecta.; ",
"cross_references": "MeSH; D003811.",
"definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta. ",
"keywords": null
},
{
"identifier": "Hypertrichotic osteochondrodysplasia.",
"acronym": "HTOCD.",
"accession": "DI-03485",
"synonyms": "Cantu syndrome.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. ",
"keywords": null
},
{
"identifier": "Cerebellar dysfunction with variable cognitive and behavioral abnormalities.",
"acronym": "CECBA.",
"accession": "DI-03530",
"synonyms": "CANPMR.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Candidiasis, familial, 4.",
"acronym": "CANDF4.",
"accession": "DI-02808",
"synonyms": "Candidiasis familial chronic mucocutaneous.; Chronic mucocutaneous candidiasis 4.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Candidiasis, familial, 8.",
"acronym": "CANDF8.",
"accession": "DI-03950",
"synonyms": "Candidiasis familial chronic mucocutaneous autosomal recessive.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Candidiasis, familial, 6.",
"acronym": "CANDF6.",
"accession": "DI-03125",
"synonyms": "Candidiasis familial chronic mucocutaneous autosomal dominant.; Chronic mucocutaneous candidiasis 6.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 31C.",
"acronym": "IMD31C.",
"accession": "DI-03179",
"synonyms": "CANDF7.; Candidiasis, familial, 7.; Candidiasis, familial chronic mucocutaneous, autosomal dominant.; Chronic mucocutaneous candidiasis 7.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 51.",
"acronym": "IMD51.",
"accession": "DI-03104",
"synonyms": "CANDF5.; Candidiasis, familial, 5.; Candidiasis familial 5 autosomal recessive.; Candidiasis familial chronic mucocutaneous autosomal recessive.; Chronic mucocutaneous candidiasis 5.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 103, susceptibility to fungal infections.",
"acronym": "IMD103.",
"accession": "DI-02578",
"synonyms": "CANDF2.; Candidiasis, familial, 2.; CARD9 immunodeficiency.; Familial chronic mucocutaneous candidiasis autosomal recessive.; ",
"cross_references": "MeSH; D002178.",
"definition": "An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 4.",
"acronym": "TPDS4.",
"accession": "DI-02882",
"synonyms": "Cancer predisposition syndrome, CHEK2-related.; LFS2.; Li-Fraumeni syndrome 2.; ",
"cross_references": "MeSH; D016864.",
"definition": "A disorder characterized by an increased risk for developing various types of benign and/or malignant neoplasms that arise at an accelerated rate and in different organs. ",
"keywords": null
},
{
"identifier": "Camptosynpolydactyly, complex.",
"acronym": "CCSPD.",
"accession": "DI-04787",
"synonyms": "Camptopolydactyly, disorganization type.; ",
"cross_references": "MeSH; D006228.",
"definition": "An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails. ",
"keywords": null
}
]
}