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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1060&ordering=-synonyms",
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"results": [
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate F.",
"acronym": "CMTDIF.",
"accession": "DI-03759",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 20.",
"acronym": "ALS20.",
"accession": "DI-03881",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "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. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Advanced sleep phase syndrome, familial, 4.",
"acronym": "FASPS4.",
"accession": "DI-06481",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "D-lactic aciduria with gout.",
"acronym": "DLACD.",
"accession": "DI-05545",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. ",
"keywords": null
},
{
"identifier": "D-bifunctional protein deficiency.",
"acronym": "DBPD.",
"accession": "DI-01471",
"synonyms": null,
"cross_references": "MedGen; C0342870.",
"definition": "Disorder of peroxisomal fatty acid beta-oxidation. ",
"keywords": null
},
{
"identifier": "Complement factor I deficiency.",
"acronym": "CFI deficiency.",
"accession": "DI-01378",
"synonyms": null,
"cross_references": "MedGen; C3463916.",
"definition": "Autosomal recessive condition associated with a propensity to pyogenic infections. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.",
"acronym": "ALS22.",
"accession": "DI-04318",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "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. Patients with ALS22 may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "CHARGE syndrome.",
"acronym": "CHARGES.",
"accession": "DI-01338",
"synonyms": null,
"cross_references": "MedGen; C0265354.",
"definition": "Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. ",
"keywords": null
},
{
"identifier": "Chediak-Higashi syndrome.",
"acronym": "CHS.",
"accession": "DI-00295",
"synonyms": null,
"cross_references": "MeSH; D002609.",
"definition": "A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). ",
"keywords": null
},
{
"identifier": "Cherubism.",
"acronym": "CRBM.",
"accession": "DI-00296",
"synonyms": null,
"cross_references": "MeSH; D002636.",
"definition": "An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. ",
"keywords": null
},
{
"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": "Chilblain lupus 2.",
"acronym": "CHBL2.",
"accession": "DI-03338",
"synonyms": null,
"cross_references": "MeSH; D008178.",
"definition": "A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. ",
"keywords": null
},
{
"identifier": "Childhood cancer retinoblastoma.",
"acronym": "RB.",
"accession": "DI-01340",
"synonyms": null,
"cross_references": "MedGen; C1867262.",
"definition": "Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. ",
"keywords": null
},
{
"identifier": "Chilton-Okur-Chung neurodevelopmental syndrome.",
"acronym": "CHOCNS.",
"accession": "DI-06399",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Chitayat syndrome.",
"acronym": "CHYTS.",
"accession": "DI-04884",
"synonyms": null,
"cross_references": "MeSH; D055091.",
"definition": "An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. ",
"keywords": null
},
{
"identifier": "Choanal atresia and lymphedema.",
"acronym": "CATLPH.",
"accession": "DI-03023",
"synonyms": null,
"cross_references": "MeSH; D008209.",
"definition": "A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. ",
"keywords": null
},
{
"identifier": "Achromatopsia 5.",
"acronym": "ACHM5.",
"accession": "DI-05080",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Cholestasis of pregnancy, intrahepatic 3.",
"acronym": "ICP3.",
"accession": "DI-03634",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"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": "Fragile X tremor/ataxia syndrome.",
"acronym": "FXTAS.",
"accession": "DI-01626",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked neurodegenerative disorder characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive decline. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}