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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1140&ordering=synonyms",
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"results": [
{
"identifier": "Greenberg dysplasia.",
"acronym": "GRBGD.",
"accession": "DI-01761",
"synonyms": "Chondrodystrophy, hydropic and prenatally lethal type.; HEM skeletal dysplasia.; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia.; Moth-eaten skeletal dysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. ",
"keywords": null
},
{
"identifier": "Otospondylomegaepiphyseal dysplasia, autosomal recessive.",
"acronym": "OSMEDB.",
"accession": "DI-01254",
"synonyms": "Chondrodystrophy with sensorineural deafness.; Insley-Astley syndrome.; Nance-Insley syndrome.; Nance-Sweeney chondrodysplasia.; OSMED.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. ",
"keywords": null
},
{
"identifier": "Ellis-van Creveld syndrome.",
"acronym": "EVC.",
"accession": "DI-00449",
"synonyms": "Chondroectodermal dysplasia.; Mesoectodermal dysplasia.; ",
"cross_references": "MeSH; D004613.",
"definition": "An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Dystonia 8.",
"acronym": "DYT8.",
"accession": "DI-00417",
"synonyms": "Choreoathetosis nonkinesigenic.; Dystonia-8.; Familial paroxysmal choreoathetosis.; FPD1.; Mount-Reback syndrome.; Paroxysmal dystonic choreoathetosis.; Paroxysmal nonkinesigenic dyskinesia 1.; PDC.; PNKD1.; ",
"cross_references": "MeSH; D004421.",
"definition": "A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Retinitis pigmentosa 3.",
"acronym": "RP3.",
"accession": "DI-00973",
"synonyms": "Choroidoretinal degeneration with retinal reflex in heterozygous women.; Retinitis pigmentosa 15.; Retinitis pigmentosa type 15.; RP15.; X-linked cone-rod degeneration.; X-linked retinitis pigmentosa 3.; XLRP3.; XLRP-3.; ",
"cross_references": "MeSH; D012174.",
"definition": "An X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Papilloma of choroid plexus.",
"acronym": "CPP.",
"accession": "DI-01346",
"synonyms": "Choroid plexus papilloma.; ",
"cross_references": "MeSH; D020288.",
"definition": "A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures. ",
"keywords": null
},
{
"identifier": "Hemophilia B.",
"acronym": "HEMB.",
"accession": "DI-02248",
"synonyms": "Christmas disease.; F9 deficiency.; Factor IX deficiency.; Plasma thromboplastin component deficiency.; Recessive X-linked hemophilia B.; ",
"cross_references": "MeSH; D002836.",
"definition": "An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. ",
"keywords": "KW-0355:Hemophilia.; "
},
{
"identifier": "Ectodermal dysplasia 1, hypohidrotic, X-linked.",
"acronym": "XHED.",
"accession": "DI-00430",
"synonyms": "Christ-Siemens-Touraine syndrome.; CST syndrome.; ECTD1.; Ectodermal dysplasia 1.; Ectodermal dysplasia 1 hypohidrotic/hair/tooth type X-linked.; Ectodermal dysplasia anhidrotic.; ED1.; EDA.; EDA1.; XLHED.; ",
"cross_references": "MeSH; D053358.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Pheochromocytoma.",
"acronym": "PCC.",
"accession": "DI-02160",
"synonyms": "Chromaffin cell tumor.; Medullary chromaffinoma.; Medullary paraganglioma.; Pheochromoblastoma.; ",
"cross_references": "MeSH; D010673.",
"definition": "A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. ",
"keywords": null
},
{
"identifier": "Renal cell carcinoma papillary.",
"acronym": "RCCP.",
"accession": "DI-01732",
"synonyms": "Chromophilic renal cell carcinoma.; PRCC.; ",
"cross_references": "MeSH; D002292.",
"definition": "A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. ",
"keywords": null
},
{
"identifier": "Split-hand/foot malformation 3.",
"acronym": "SHFM3.",
"accession": "DI-02327",
"synonyms": "Chromosome 10q24 duplication syndrome.; Limb deficiencies, distal, with micrognathia.; SHSF3.; ",
"cross_references": "MeSH; D017880.",
"definition": "A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ",
"keywords": null
},
{
"identifier": "Potocki-Shaffer syndrome.",
"acronym": "POSHS.",
"accession": "DI-02006",
"synonyms": "Chromosome 11p11.2 deletion syndrome.; ",
"cross_references": "MeSH; D002872.",
"definition": "A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis, and intellectual disability in some cases. ",
"keywords": null
},
{
"identifier": "Osteogenesis imperfecta 16.",
"acronym": "OI16.",
"accession": "DI-04377",
"synonyms": "Chromosome 11p11.2 deletion syndrome, 91.3-KB.; OI, type XVI.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Spinocerebellar ataxia 20.",
"acronym": "SCA20.",
"accession": "DI-03078",
"synonyms": "Chromosome 11q12 duplication syndrome 260-KB.; Spinocerebellar ataxia with dysphonia.; Spinocerebellar ataxia with spasmodic cough.; ",
"cross_references": "MeSH; D020754.",
"definition": "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Deafness-infertility syndrome.",
"acronym": "DIS.",
"accession": "DI-01474",
"synonyms": "Chromosome 15q15.3 deletion syndrome.; Deafness, sensorineural, and male infertility.; ",
"cross_references": "MedGen; C1970187.",
"definition": "Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. ",
"keywords": null
},
{
"identifier": "Split-hand/foot malformation with long bone deficiency 3.",
"acronym": "SHFLD3.",
"accession": "DI-03954",
"synonyms": "Chromosome 17p13.3, telomeric, duplication syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. ",
"keywords": null
},
{
"identifier": "Koolen-De Vries syndrome.",
"acronym": "KDVS.",
"accession": "DI-05560",
"synonyms": "Chromosome 17q21.31 deletion syndrome.; Microdeletion 17q21.31 syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "46,XY sex reversal 10.",
"acronym": "SRXY10.",
"accession": "DI-04458",
"synonyms": "Chromosome 17q24 deletion syndrome.; ",
"cross_references": "MeSH; D006061.",
"definition": "A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. ",
"keywords": null
},
{
"identifier": "Omphalocele, autosomal.",
"acronym": "OMPHA.",
"accession": "DI-03657",
"synonyms": "Chromosome 1p31 duplication syndrome.; Omphalocele due to duplication of 1p31.3.; ",
"cross_references": "MeSH; D006554.",
"definition": "An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane- covered internal organs into the open base of the umbilical cord. It appears as a skin-covered protrusion at the umbilicus during crying, coughing, or straining. ",
"keywords": null
},
{
"identifier": "DiGeorge syndrome.",
"acronym": "DGS.",
"accession": "DI-01487",
"synonyms": "Chromosome 22q11.2 deletion syndrome.; Hypoplasia of thymus and parathyroids.; Third and fourth pharyngeal pouch syndrome.; ",
"cross_references": "MeSH; D004062.",
"definition": "A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. ",
"keywords": null
}
]
}