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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2760&ordering=synonyms",
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"results": [
{
"identifier": "Mucopolysaccharidosis 4B.",
"acronym": "MPS4B.",
"accession": "DI-00779",
"synonyms": "Morquio's syndrome B.; Morquio syndrome B.; MPS IVB.; MPS-IVB.; Mucopolysaccharidosis type IVB.; ",
"cross_references": "MeSH; D009085.",
"definition": "A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Atelis syndrome 1.",
"acronym": "ATELS1.",
"accession": "DI-06582",
"synonyms": "Mosaic variegated aneuploidy syndrome 5.; MVA5.; Poor growth, microcephaly, developmental delay, and anemia.; ",
"cross_references": "MeSH; D065886.",
"definition": "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ",
"keywords": null
},
{
"identifier": "Atelis syndrome 2.",
"acronym": "ATELS2.",
"accession": "DI-06583",
"synonyms": "Mosaic variegated aneuploidy syndrome 6.; MVA6.; Poor growth, microcephaly, dysmorphic facies, and cardiac defects.; ",
"cross_references": "MeSH; D065886.",
"definition": "A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. ",
"keywords": null
},
{
"identifier": "Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency.",
"acronym": "DRDSPRD.",
"accession": "DI-00411",
"synonyms": "Motor and cognitive disorder due to sepiapterin reductase deficiency.; Sepiapterin reductase deficiency.; SPR deficiency.; ",
"cross_references": "MeSH; D011596.",
"definition": "A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Moyamoya disease 6 with or without achalasia.",
"acronym": "MYMY6.",
"accession": "DI-04074",
"synonyms": "Moyamoya 6 with achalasia.; ",
"cross_references": "MeSH; D009072.",
"definition": "A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Myeloperoxidase deficiency.",
"acronym": "MPOD.",
"accession": "DI-02016",
"synonyms": "MPO deficiency.; ",
"cross_references": "MeSH; D002177.",
"definition": "A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. ",
"keywords": null
},
{
"identifier": "Mucopolysaccharidosis 3B.",
"acronym": "MPS3B.",
"accession": "DI-00775",
"synonyms": "MPS IIIB.; Mucopolysaccharidosis type IIIB.; N-acetyl-alpha-D-glucosaminidase deficiency.; NAGLU deficiency.; Sanfilippo syndrome B.; ",
"cross_references": "MeSH; D009084.",
"definition": "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Mucopolysaccharidosis 3D.",
"acronym": "MPS3D.",
"accession": "DI-00777",
"synonyms": "MPS IIID.; Mucopolysaccharidosis type IIID.; N-acetylglucosamine-6-sulfatase deficiency.; Sanfilippo D syndrome.; ",
"cross_references": "MeSH; D009084.",
"definition": "A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Coffin-Siris syndrome 2.",
"acronym": "CSS2.",
"accession": "DI-03453",
"synonyms": "MRD14.; ",
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 3.",
"acronym": "CSS3.",
"accession": "DI-03454",
"synonyms": "MRD15.; ",
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 4.",
"acronym": "CSS4.",
"accession": "DI-03455",
"synonyms": "MRD16.; ",
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Gand syndrome.",
"acronym": "GAND.",
"accession": "DI-03650",
"synonyms": "MRD18.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by global developmental delay with motor delay, moderate to severely impaired intellectual development, and poor speech acquisition in most patients. Additional features include hypotonia, feeding difficulties in infancy, and dysmorphic features. More variable features may include seizures, cardiac abnormalities, and non-specific findings on brain imaging. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with spastic diplegia and visual defects.",
"acronym": "NEDSDV.",
"accession": "DI-03652",
"synonyms": "MRD19.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language.",
"acronym": "NEDHSIL.",
"accession": "DI-02856",
"synonyms": "MRD20.; ",
"cross_references": "MeSH; D019956.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Xia-Gibbs syndrome.",
"acronym": "XIGIS.",
"accession": "DI-04125",
"synonyms": "MRD25.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Helsmoortel-van der Aa syndrome.",
"acronym": "HVDAS.",
"accession": "DI-04149",
"synonyms": "MRD28.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties.",
"acronym": "NEDRIHF.",
"accession": "DI-04309",
"synonyms": "MRD31.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional common features may include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "White-Sutton syndrome.",
"acronym": "WHSUS.",
"accession": "DI-04421",
"synonyms": "MRD37.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Clark-Baraitser syndrome.",
"acronym": "CLABARS.",
"accession": "DI-05132",
"synonyms": "MRD49.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.",
"acronym": "NDHMSD.",
"accession": "DI-05176",
"synonyms": "MRD8.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}