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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1080&ordering=-synonyms",
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"results": [
{
"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": "Coffin-Siris syndrome 12.",
"acronym": "CSS12.",
"accession": "DI-06109",
"synonyms": null,
"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. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 10.",
"acronym": "PFIC10.",
"accession": "DI-06418",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 11.",
"acronym": "PFIC11.",
"accession": "DI-06419",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"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": "Cholestasis, progressive familial intrahepatic, 2.",
"acronym": "PFIC2.",
"accession": "DI-00950",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"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": "Cholestasis, progressive familial intrahepatic, 4.",
"acronym": "PFIC4.",
"accession": "DI-04152",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC4 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 5.",
"acronym": "PFIC5.",
"accession": "DI-04774",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 6.",
"acronym": "PFIC6.",
"accession": "DI-06201",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss.",
"acronym": "PFIC7.",
"accession": "DI-06293",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients develop hearing loss in childhood. ",
"keywords": "KW-0209:Deafness.; KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 8.",
"acronym": "PFIC8.",
"accession": "DI-06294",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 9.",
"acronym": "PFIC9.",
"accession": "DI-06404",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Bardet-Biedl syndrome 15.",
"acronym": "BBS15.",
"accession": "DI-02938",
"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 16.",
"acronym": "BBS16.",
"accession": "DI-04258",
"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": "Amyotrophic lateral sclerosis 28.",
"acronym": "ALS28.",
"accession": "DI-06733",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Chondrodysplasia Blomstrand type.",
"acronym": "BOCD.",
"accession": "DI-01343",
"synonyms": null,
"cross_references": "MedGen; C1859148.",
"definition": "Severe skeletal dysplasia. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 17.",
"acronym": "BBS17.",
"accession": "DI-04076",
"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 18.",
"acronym": "BBS18.",
"accession": "DI-04077",
"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": "Galloway-Mowat syndrome 2, X-linked.",
"acronym": "GAMOS2.",
"accession": "DI-05105",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}