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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=520&ordering=identifier",
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"results": [
{
"identifier": "Axenfeld-Rieger syndrome 3.",
"acronym": "RIEG3.",
"accession": "DI-01266",
"synonyms": "Anterior chamber cleavage syndrome.; Anterior segment mesenchymal dysgenesis.; Axenfeld anomaly.; Axenfeld-Rieger anomaly.; Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss.; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss.; Rieger anomaly.; Rieger syndrome type 3.; ",
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Ayme-Gripp syndrome.",
"acronym": "AYGRP.",
"accession": "DI-04468",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Azoospermia, obstructive, with nephrolithiasis.",
"acronym": "OAZON.",
"accession": "DI-06054",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones. ",
"keywords": null
},
{
"identifier": "Bachmann-Bupp syndrome.",
"acronym": "BABS.",
"accession": "DI-05945",
"synonyms": "NEDABA.; Neurodevelopmental disorder with alopecia and brain abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, alopecia, absolute or relative macrocephaly, and facial dysmorphism. Neuroimaging shows white matter abnormalities, prominent Virchow-Robin spaces, periventricular cysts, and abnormalities of the corpus callosum. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Bainbridge-Ropers syndrome.",
"acronym": "BRPS.",
"accession": "DI-03920",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. ",
"keywords": null
},
{
"identifier": "Baker-Gordon syndrome.",
"acronym": "BAGOS.",
"accession": "DI-05432",
"synonyms": "NEDIMAE.; Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. ",
"keywords": null
},
{
"identifier": "Baller-Gerold syndrome.",
"acronym": "BGS.",
"accession": "DI-00158",
"synonyms": "Craniosynostosis-radial aplasia syndrome.; Craniosynostosis with radial defects.; ",
"cross_references": "MeSH; D003398.",
"definition": "An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. ",
"keywords": "KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; "
},
{
"identifier": "Bamforth-Lazarus syndrome.",
"acronym": "BAMLAZ.",
"accession": "DI-01267",
"synonyms": "Athyroidal hypothyroidism with spiky hair and cleft palate.; ",
"cross_references": "MeSH; D007037.",
"definition": "An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. ",
"keywords": null
},
{
"identifier": "Band heterotopia.",
"acronym": "BH.",
"accession": "DI-04829",
"synonyms": "Band heterotopia of brain.; ",
"cross_references": "MeSH; D054221.",
"definition": "A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Baraitser-Winter syndrome 1.",
"acronym": "BRWS1.",
"accession": "DI-03416",
"synonyms": "Cerebrofrontofacial syndrome.; Cerebrooculofacial lymphatic syndrome.; Chromosome 7p22 deletion syndrome.; COFLS.; Fryns-Aftimos syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Baraitser-Winter syndrome 2.",
"acronym": "BRWS2.",
"accession": "DI-03417",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Baralle-Macken syndrome.",
"acronym": "BARMACS.",
"accession": "DI-06071",
"synonyms": "Neurodevelopmental disorder with cataracts and variable microcephaly.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Barber-Say syndrome.",
"acronym": "BBRSAY.",
"accession": "DI-04543",
"synonyms": "BSS.; Hypertrichosis, atrophic skin, ectropion, and macrostomia.; ",
"cross_references": "MeSH; D012868.",
"definition": "A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Bardet-Biedl syndrome.",
"acronym": "BBS.",
"accession": "DI-03107",
"synonyms": "Laurence-Moon-Bardet-Biedl Syndrome.; ",
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 1.",
"acronym": "BBS1.",
"accession": "DI-00159",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 10.",
"acronym": "BBS10.",
"accession": "DI-00168",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 11.",
"acronym": "BBS11.",
"accession": "DI-00169",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 12.",
"acronym": "BBS12.",
"accession": "DI-01269",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 13.",
"acronym": "BBS13.",
"accession": "DI-03087",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Bardet-Biedl syndrome 14.",
"acronym": "BBS14.",
"accession": "DI-02607",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
}
]
}