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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1160",
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"results": [
{
"identifier": "CK syndrome.",
"acronym": "CKS.",
"accession": "DI-03007",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "CLAPO syndrome.",
"acronym": "CLAPO.",
"accession": "DI-05367",
"synonyms": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.; Lopez-Gutierrez syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth. ",
"keywords": null
},
{
"identifier": "Clark-Baraitser syndrome.",
"acronym": "CLABARS.",
"accession": "DI-05132",
"synonyms": "MRD49.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cleft palate, cardiac defects, and impaired intellectual development.",
"acronym": "CPCMR.",
"accession": "DI-05007",
"synonyms": "Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cleft palate isolated.",
"acronym": "CPI.",
"accession": "DI-01837",
"synonyms": "CP.; ",
"cross_references": "MeSH; D002972.",
"definition": "A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis. ",
"keywords": null
},
{
"identifier": "Cleft palate, proliferative retinopathy, and developmental delay.",
"acronym": "CPPRDD.",
"accession": "DI-05947",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cleft palate, psychomotor retardation, and distinctive facial features.",
"acronym": "CPRF.",
"accession": "DI-04622",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion. ",
"keywords": null
},
{
"identifier": "Cleft palate with or without ankyloglossia, X-linked.",
"acronym": "CPX.",
"accession": "DI-02436",
"synonyms": "X-linked cleft palate with ankyloglossia.; ",
"cross_references": "MeSH; D002972.",
"definition": "A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. ",
"keywords": null
},
{
"identifier": "Cleidocranial dysplasia 1.",
"acronym": "CLCD1.",
"accession": "DI-01353",
"synonyms": "CCD.; CLCD.; Cleidocranial dysostosis.; ",
"cross_references": "MeSH; D002973.",
"definition": "A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Cleidocranial dysplasia 2.",
"acronym": "CLCD2.",
"accession": "DI-06534",
"synonyms": null,
"cross_references": "MeSH; D002973.",
"definition": "A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. Craniofacial features are subtle and characterized by prominent parietal and frontal bones, widely spaced eyes, depressed nasal bridge and small maxilla. Some CLCD2 patients present mild to moderate developmental delay. CLCD2 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly.",
"acronym": "CCF.",
"accession": "DI-01396",
"synonyms": "Talipes equinovarus.; TEV.; ",
"cross_references": "MeSH; D003025.",
"definition": "A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly. ",
"keywords": null
},
{
"identifier": "COACH syndrome 1.",
"acronym": "COACH1.",
"accession": "DI-02835",
"synonyms": "Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis.; COACH syndrome.; Joubert syndrome with congenital hepatic fibrosis.; ",
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH1 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "COACH syndrome 2.",
"acronym": "COACH2.",
"accession": "DI-05978",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH2 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "COACH syndrome 3.",
"acronym": "COACH3.",
"accession": "DI-05979",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Cockayne syndrome A.",
"acronym": "CSA.",
"accession": "DI-00311",
"synonyms": "CKN1.; ",
"cross_references": "MeSH; D003057.",
"definition": "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ",
"keywords": "KW-0172:Cockayne syndrome.; "
},
{
"identifier": "Cockayne syndrome B.",
"acronym": "CSB.",
"accession": "DI-00312",
"synonyms": "CKN2.; ",
"cross_references": "MeSH; D003057.",
"definition": "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ",
"keywords": "KW-0172:Cockayne syndrome.; "
},
{
"identifier": "Cocoon syndrome.",
"acronym": "COCOS.",
"accession": "DI-02978",
"synonyms": "Fetal encasement syndrome.; ",
"cross_references": "MeSH; D005315.",
"definition": "A lethal syndrome characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. ",
"keywords": null
},
{
"identifier": "CODAS syndrome.",
"acronym": "CODASS.",
"accession": "DI-04347",
"synonyms": "Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 1.",
"acronym": "COQ10D1.",
"accession": "DI-01354",
"synonyms": "Coenzyme Q deficiency 1.; CoQ deficiency 1.; Primary CoQ10 deficiency 1.; Ubiquinone deficiency 1.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 2.",
"acronym": "COQ10D2.",
"accession": "DI-03446",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive multisystem disorder characterized by early- onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}