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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=960&ordering=-synonyms",
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"results": [
{
"identifier": "Cerebral cavernous malformations 4.",
"acronym": "CCM4.",
"accession": "DI-06256",
"synonyms": null,
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy 13.",
"acronym": "CORD13.",
"accession": "DI-00323",
"synonyms": null,
"cross_references": "MeSH; D000071700.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Autism 17.",
"acronym": "AUTS17.",
"accession": "DI-02794",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Craniofacial anomalies and anterior segment dysgenesis syndrome.",
"acronym": "CAASDS.",
"accession": "DI-03261",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. ",
"keywords": null
},
{
"identifier": "Autism 19.",
"acronym": "AUTS19.",
"accession": "DI-03649",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Cyanosis transient neonatal.",
"acronym": "TNCY.",
"accession": "DI-03171",
"synonyms": null,
"cross_references": "MeSH; D003490.",
"definition": "A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 2.",
"acronym": "CPSQ2.",
"accession": "DI-02559",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 3.",
"acronym": "CPSQ3.",
"accession": "DI-04750",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. ",
"keywords": null
},
{
"identifier": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.",
"acronym": "CPSFS1B.",
"accession": "DI-05594",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, hamartomas of tongue, and polysyndactyly.",
"acronym": "CHDTHP.",
"accession": "DI-04320",
"synonyms": null,
"cross_references": "MeSH; D013576.",
"definition": "A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. ",
"keywords": null
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 3.",
"acronym": "COFS3.",
"accession": "DI-04514",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
},
{
"identifier": "High bone mass trait.",
"acronym": "HBM.",
"accession": "DI-01741",
"synonyms": null,
"cross_references": "MedGen; C1866080.",
"definition": "Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings. ",
"keywords": null
},
{
"identifier": "Autism, X-linked 3.",
"acronym": "AUTSX3.",
"accession": "DI-02433",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Cerebroretinal microangiopathy with calcifications and cysts 2.",
"acronym": "CRMCC2.",
"accession": "DI-04949",
"synonyms": null,
"cross_references": "MeSH; D059345.",
"definition": "An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. ",
"keywords": null
},
{
"identifier": "Cerebroretinal microangiopathy with calcifications and cysts 3.",
"acronym": "CRMCC3.",
"accession": "DI-06680",
"synonyms": null,
"cross_references": "MeSH; D059345.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, global developmental delay, neurologic regression, intracranial calcifications, and leukoencephalopathy. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate D.",
"acronym": "CMTDID.",
"accession": "DI-00266",
"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. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Autism, X-linked 5.",
"acronym": "AUTSX5.",
"accession": "DI-03140",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Craniofacial microsomia 2.",
"acronym": "CFM2.",
"accession": "DI-06720",
"synonyms": null,
"cross_references": "MeSH; D006053.",
"definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 11.",
"acronym": "CLN11.",
"accession": "DI-03493",
"synonyms": null,
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Epilepsy, idiopathic generalized 17.",
"acronym": "EIG17.",
"accession": "DI-06235",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}