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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1540&ordering=identifier",
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"results": [
{
"identifier": "Craniofacial-deafness-hand syndrome.",
"acronym": "CDHS.",
"accession": "DI-01442",
"synonyms": null,
"cross_references": "MedGen; C1852510.",
"definition": "Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. ",
"keywords": null
},
{
"identifier": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1.",
"acronym": "CFSMR1.",
"accession": "DI-03178",
"synonyms": "Cerebrofaciothoracic dysplasia.; Cerebro-facio-thoracic dysplasia.; TMCO1 defect syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.",
"acronym": "CFSMR2.",
"accession": "DI-06460",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniofacial microsomia 1.",
"acronym": "CFM1.",
"accession": "DI-06354",
"synonyms": "Facioauriculovertebral sequence.; Facio-auriculo-vertebral spectrum.; FAV sequence.; Goldenhar syndrome.; Hemifacial microsomia.; HFM.; OAV dysplasia.; OAVS.; Oculoauricular vertebral dysplasia.; Oculoauriculovertebral spectrum.; Oculo-auriculo-vertebral spectrum.; ",
"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. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities. ",
"keywords": null
},
{
"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": "Craniofrontonasal syndrome.",
"acronym": "CFNS.",
"accession": "DI-01443",
"synonyms": "CFND.; Craniofrontonasal dysostosis.; Craniofrontonasal dysplasia.; ",
"cross_references": "MeSH; D019465.",
"definition": "X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniolenticulosutural dysplasia.",
"acronym": "CLSD.",
"accession": "DI-01444",
"synonyms": "Boyadjiev-Jabs syndrome.; Cranio-lenticulo-sutural dysplasia.; ",
"cross_references": "MeSH; D019465.",
"definition": "Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. ",
"keywords": null
},
{
"identifier": "Craniometadiaphyseal osteosclerosis with hip dysplasia.",
"acronym": "CMDOH.",
"accession": "DI-06785",
"synonyms": null,
"cross_references": "MeSH; D010026.",
"definition": "An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae. ",
"keywords": null
},
{
"identifier": "Craniometaphyseal dysplasia, autosomal dominant.",
"acronym": "CMDD.",
"accession": "DI-01445",
"synonyms": "CMDJ.; Craniometaphyseal dysplasia Jackson type.; ",
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ",
"keywords": null
},
{
"identifier": "Craniometaphyseal dysplasia, autosomal recessive.",
"acronym": "CMDR.",
"accession": "DI-03897",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ",
"keywords": null
},
{
"identifier": "Cranioosteoarthropathy.",
"acronym": "COA.",
"accession": "DI-01446",
"synonyms": null,
"cross_references": "MeSH; D010004.",
"definition": "A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. ",
"keywords": null
},
{
"identifier": "Craniosynostosis 1.",
"acronym": "CRS1.",
"accession": "DI-01447",
"synonyms": "Craniostenosis.; CRS.; ",
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 2.",
"acronym": "CRS2.",
"accession": "DI-00382",
"synonyms": "Craniosynostosis Boston type.; Craniosynostosis Boston-type.; Craniosynostosis Warman type.; Craniosynostosis Warman-type.; CSB.; Warman-Mulliken-Hayward syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 3.",
"acronym": "CRS3.",
"accession": "DI-03808",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 4.",
"acronym": "CRS4.",
"accession": "DI-03809",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 5.",
"acronym": "CRS5.",
"accession": "DI-03953",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 6.",
"acronym": "CRS6.",
"accession": "DI-04561",
"synonyms": null,
"cross_references": "MeSH; D003398.",
"definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 7.",
"acronym": "CRS7.",
"accession": "DI-04994",
"synonyms": "Craniosynostosis 7, digenic.; ",
"cross_references": "MeSH; D003398.",
"definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis and dental anomalies.",
"acronym": "CRSDA.",
"accession": "DI-03259",
"synonyms": "Kreiborg-Pakistani syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniotubular dysplasia, Ikegawa type.",
"acronym": "CTDI.",
"accession": "DI-06325",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}