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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3020&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2980&ordering=synonyms",
"results": [
{
"identifier": "Nystagmus 1, congenital, X-linked.",
"acronym": "NYS1.",
"accession": "DI-02439",
"synonyms": "Nystagmus 1 infantile X-linked.; Nystagmus congenital motor 1.; Nystagmus infantile idiopathic.; Nystagmus infantile periodic alternating X-linked.; XIPAN.; XLPAN.; ",
"cross_references": "MeSH; D020417.",
"definition": "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. ",
"keywords": null
},
{
"identifier": "Osteoarthritis 1.",
"acronym": "OS1.",
"accession": "DI-02641",
"synonyms": "OA.; Osteoarthritis of hip female-specific.; Osteoarthrosis.; ",
"cross_references": "MeSH; D010003.",
"definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ",
"keywords": null
},
{
"identifier": "Facial clefting, oblique, 1.",
"acronym": "OBLFC1.",
"accession": "DI-03222",
"synonyms": "Oblique facial cleft.; Oculomaxillofacial dysplasia with oblique facial clefts.; Orbitofacial cleft.; ",
"cross_references": "MeSH; D019767.",
"definition": "A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face. ",
"keywords": null
},
{
"identifier": "Cholestasis of pregnancy, intrahepatic 1.",
"acronym": "ICP1.",
"accession": "DI-00600",
"synonyms": "Obstetric cholestasis.; Pregnancy-related cholestasis.; Recurrent intrahepatic cholestasis of pregnancy.; ",
"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. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Albinism, oculocutaneous, 4.",
"acronym": "OCA4.",
"accession": "DI-02086",
"synonyms": "Oculocutaneous albinism type IV.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 6.",
"acronym": "OCA6.",
"accession": "DI-03840",
"synonyms": "Oculocutaneous albinism type VI.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 7.",
"acronym": "OCA7.",
"accession": "DI-03749",
"synonyms": "Oculocutaneous albinism type VII.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 8.",
"acronym": "OCA8.",
"accession": "DI-06011",
"synonyms": "Oculocutaneous albinism, type VIII.; ",
"cross_references": "MeSH; D016115.",
"definition": "A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Oculodentodigital dysplasia.",
"acronym": "ODDD.",
"accession": "DI-01222",
"synonyms": "Oculo-dento-digital dysplasia.; Oculodentodigital syndrome.; Oculo-dento-digital syndrome.; Oculodentoosseous dysplasia.; ODDS.; ODD syndrome.; ODOD.; ",
"cross_references": "MeSH; D014071.",
"definition": "A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. ",
"keywords": null
},
{
"identifier": "Burn-McKeown syndrome.",
"acronym": "BMKS.",
"accession": "DI-04322",
"synonyms": "Oculootofacial dysplasia.; OOFD.; ",
"cross_references": "MeSH; D019066.",
"definition": "A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "IVIC syndrome.",
"acronym": "IVIC.",
"accession": "DI-01846",
"synonyms": "Oculootoradial syndrome.; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Otofaciocervical syndrome 2, with T-cell deficiency.",
"acronym": "OTFCS2.",
"accession": "DI-03986",
"synonyms": "OFC2.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. Some patients also exhibit altered thymus development with T-cell immunodeficiency. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Otofaciocervical syndrome 1.",
"acronym": "OTFCS1.",
"accession": "DI-02112",
"synonyms": "OFC.; OFC1.; OTFCS.; Oto-facio-cervical syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Orofaciodigital syndrome 1.",
"acronym": "OFD1.",
"accession": "DI-02099",
"synonyms": "OFDS I.; Oral-facial-digital syndrome, type I.; Oral-facial-digital syndrome 1.; Orofaciodigital syndrome I.; Papillon-Leage and Psaume syndrome.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy- Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 6.",
"acronym": "OFD6.",
"accession": "DI-04278",
"synonyms": "OFDS VI.; Oral-facial-digital syndrome, type VI.; Oral-facial-digital syndrome 6.; Orofaciodigital syndrome VI.; Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation.; Varadi-PAPP syndrome.; Varadi syndrome.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 5.",
"acronym": "OFD5.",
"accession": "DI-03935",
"synonyms": "OFDS V.; Oral-facial-digital syndrome, type V.; Oral-facial-digital syndrome 5.; Orofaciodigital syndrome Thurston type.; Orofaciodigital syndrome V.; Papillon-Leage and Psaume syndrome.; Polydactyly, postaxial, with median cleft of upper lip.; Thurston syndrome.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 19.",
"acronym": "OFD19.",
"accession": "DI-06536",
"synonyms": "OFDS XIX.; Oro-facio-digital syndrome, type XIX.; Orofaciodigital syndrome XIX.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD19 is an autosomal recessive form characterized by tongue nodules, dental and digital anomalies, narrow high-arched or cleft palate, and retrognathia. Some patients have notching of the upper or lower lip. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 18.",
"acronym": "OFD18.",
"accession": "DI-05224",
"synonyms": "OFDS XVIII.; Oral-facial-digital syndrome XVIII.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 17.",
"acronym": "OFD17.",
"accession": "DI-05202",
"synonyms": "OFDS XVII.; Oral-facial-digital syndrome, type XVII.; Orofaciodigital syndrome XVII.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD17 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Orofaciodigital syndrome 16.",
"acronym": "OFD16.",
"accession": "DI-05037",
"synonyms": "OFDS XVI.; Oral-facial-digital syndrome, type XVI.; Orofaciodigital syndrome XVI.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
}
]
}