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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3440&ordering=identifier",
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"results": [
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type.",
"acronym": "MRXSG.",
"accession": "DI-06831",
"synonyms": "Gustavson syndrome.; Intellectual developmental disorder with optic atrophy, deafness, and seizures.; Mental retardation with optic atrophy, deafness, and seizures.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood. ",
"keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type.",
"acronym": "MRXSHD.",
"accession": "DI-05781",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Hedera type.",
"acronym": "MRXSH.",
"accession": "DI-00741",
"synonyms": "MRXE.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSH patients manifest mild to moderate intellectual disability associated with epilepsy, delays in motor milestones and speech acquisition in infancy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Houge type.",
"acronym": "MRXSHG.",
"accession": "DI-05156",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Lubs type.",
"acronym": "MRXSL.",
"accession": "DI-02752",
"synonyms": "MECP2 duplication syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest intellectual disability associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type.",
"acronym": "MRXSLF.",
"accession": "DI-01917",
"synonyms": "Lujan-Fryns syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate intellectual disability, behavioral aberrations and dysgenesis of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Nascimento-type.",
"acronym": "MRXSN.",
"accession": "DI-03285",
"synonyms": "MRXS30.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Pilorge type.",
"acronym": "MRXSP.",
"accession": "DI-06379",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities. Variable features include motor incoordination, seizures, and ocular abnormalities. Disease onset is in infancy, and severity is higly variable. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Raymond type.",
"acronym": "MRXSR.",
"accession": "DI-02508",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSR patients show additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Shashi type.",
"acronym": "MRXSSH.",
"accession": "DI-04582",
"synonyms": "MRXS11.; SMRXS.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Siderius type.",
"acronym": "MRXSSD.",
"accession": "DI-01966",
"synonyms": "Siderius-Hamel syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by mild to borderline intellectual disability with or without cleft lip/cleft palate. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type.",
"acronym": "MRXSSB.",
"accession": "DI-04512",
"synonyms": "MRX102.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type.",
"acronym": "MRXSSR.",
"accession": "DI-02315",
"synonyms": "SRS.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked intellectual disability syndrome characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type.",
"acronym": "SDSX.",
"accession": "DI-02342",
"synonyms": "Intellectual deficit X-linked Stocco Dos Santos type.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by severe intellectual disability with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Turner type.",
"acronym": "MRXST.",
"accession": "DI-00720",
"synonyms": "Brooks-Wisniewski-Brown syndrome.; JMS.; Juberg-Marsidi syndrome.; MRXSBWB.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type.",
"acronym": "WTS.",
"accession": "DI-03554",
"synonyms": "MRXS6.; MRXSWT.; Wilson-Turner syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. ",
"keywords": "KW-0550:Obesity.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies.",
"acronym": "MRXSPF.",
"accession": "DI-06258",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Wu type.",
"acronym": "MRXSW.",
"accession": "DI-00739",
"synonyms": "MRX94.; MRXS29.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSW patients have moderate intellectual disability, and additional variable features such as macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency.",
"acronym": "MRXGH.",
"accession": "DI-01968",
"synonyms": "Intellectual developmental disorder, X-linked, with panhypopituitarism.; MRGH.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by the association of variable degrees of intellectual disability with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual disability and myopathy syndrome.",
"acronym": "IDMYS.",
"accession": "DI-06322",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}