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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=120&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=80&ordering=synonyms",
"results": [
{
"identifier": "Acne inversa, familial, 1.",
"acronym": "ACNINV1.",
"accession": "DI-02995",
"synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ",
"cross_references": "MeSH; D017497.",
"definition": "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. ",
"keywords": null
},
{
"identifier": "Schwannomatosis, vestibular.",
"acronym": "SWNV.",
"accession": "DI-02045",
"synonyms": "Acoustic neurinoma, bilateral.; Acoustic schwannomas, bilateral.; ANC.; BANF.; Bilateral acoustic neurofibromatosis.; Central neurofibromatosis.; Neurofibromatosis 2.; NF2.; Schwannomatosis 3.; SWN3.; ",
"cross_references": "MeSH; D016518.",
"definition": "An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes. ",
"keywords": null
},
{
"identifier": "Carpenter syndrome 1.",
"acronym": "CRPT1.",
"accession": "DI-01325",
"synonyms": "ACPS2.; ACPS II.; Acrocephalopolysyndactyly 2.; Acrocephalopolysyndactyly type II.; Carpenter syndrome.; ",
"cross_references": "MeSH; D000168.",
"definition": "A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Alpha-thalassemia myelodysplasia syndrome.",
"acronym": "ATMDS.",
"accession": "DI-01180",
"synonyms": "Acquired alpha-thalassemia with myelodysplastic syndrome.; Hemoglobin H disease acquired.; ",
"cross_references": "MeSH; D017085.",
"definition": "A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. ",
"keywords": null
},
{
"identifier": "Epilepsy, focal, with speech disorder and with or without impaired intellectual development.",
"acronym": "FESD.",
"accession": "DI-03169",
"synonyms": "Acquired aphasia with epilepsy.; ADRESD.; BECTS.; Benign epilepsy of childhood with centrotemporal spikes.; Continuous spike and waves during slow-wave sleep syndrome.; CSWS.; CSWSS.; Landau-Kleffner syndrome.; LKS.; RESDAD.; ",
"cross_references": "MeSH; D004827.",
"definition": "An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Robinow syndrome, autosomal dominant 1.",
"acronym": "DRS1.",
"accession": "DI-03227",
"synonyms": "Acral dysostosis with facial and genital abnormalities.; Fetal face syndrome.; Robinow dwarfism.; ",
"cross_references": "MeSH; D019465.",
"definition": "A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Peeling skin syndrome 2.",
"acronym": "PSS2.",
"accession": "DI-02148",
"synonyms": "Acral peeling skin syndrome.; APSS.; Peeling skin syndrome, acral type.; Peeling skin syndrome type A.; ",
"cross_references": "MeSH; D003873.",
"definition": "A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. ",
"keywords": null
},
{
"identifier": "Robinow-Sorauf syndrome.",
"acronym": "RSS.",
"accession": "DI-01004",
"synonyms": "Acrocephalosyndactyly Robinow-Sorauf type.; Craniosynostosis-bifid hallux syndrome.; ",
"cross_references": "MeSH; D000168.",
"definition": "An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Apert syndrome.",
"acronym": "APRS.",
"accession": "DI-00131",
"synonyms": "Acrocephalosyndactyly type 1.; ACS1.; ACS I.; ",
"cross_references": "MeSH; D000168.",
"definition": "A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Saethre-Chotzen syndrome.",
"acronym": "SCS.",
"accession": "DI-01006",
"synonyms": "Acrocephalosyndactyly type 3.; ACS3.; ACS III.; ",
"cross_references": "MeSH; D000168.",
"definition": "A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Pfeiffer syndrome.",
"acronym": "PS.",
"accession": "DI-00924",
"synonyms": "Acrocephalosyndactyly type 5.; ACS5.; ACS V.; ",
"cross_references": "MeSH; D000168.",
"definition": "A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Acrofacial dysostosis, Weyers type.",
"acronym": "WAD.",
"accession": "DI-00029",
"synonyms": "Acrodental dysostosis of Weyers.; Curry-Hall syndrome.; Weyers acrofacial dysostosis.; ",
"cross_references": "MeSH; D004413.",
"definition": "An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. ",
"keywords": null
},
{
"identifier": "Psoriasis 14, pustular.",
"acronym": "PSORS14.",
"accession": "DI-03262",
"synonyms": "Acrodermatitis continua of Hallopeau.; DITRA.; Generalized pustular psoriasis.; GPP.; Interleukin 36 receptor antagonist deficiency.; Palmoplantar pustulosis.; PSORP.; ",
"cross_references": "MeSH; D011565.",
"definition": "A life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein. ",
"keywords": null
},
{
"identifier": "Pituitary adenoma 1, multiple types.",
"acronym": "PITA1.",
"accession": "DI-01689",
"synonyms": "Acromegaly due to pituitary adenoma.; Acromegaly due to pituitary adenoma 1.; Familial isolated pituitary adenoma.; Familial isolated somatotropinomas.; Familial somatotrophinoma.; FIPA.; FIS.; IFS.; Isolated familial somatotropinoma.; PAGH1.; Pituitary adenoma, growth hormone-secreting, 1.; ",
"cross_references": "MeSH; D049912.",
"definition": "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. ",
"keywords": null
},
{
"identifier": "Pituitary adenoma 2, growth hormone-secreting.",
"acronym": "PITA2.",
"accession": "DI-04304",
"synonyms": "Acromegaly, X-linked.; Acromegaly due to pituitary adenoma 2.; ",
"cross_references": "MeSH; D049912.",
"definition": "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature. ",
"keywords": null
},
{
"identifier": "Acromesomelic dysplasia 2C.",
"acronym": "AMD2C.",
"accession": "DI-00032",
"synonyms": "Acromesomelic chondrodysplasia, Hunter-Thompson type.; AMDH.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 3.",
"acronym": "AMD3.",
"accession": "DI-00033",
"synonyms": "Acromesomelic chondrodysplasia, with genital anomalies.; Acromesomelic dysplasia, Demirhan type.; AMDD.; Chondrodysplasia, acromesomelic, with or without genital anomalies.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 1.",
"acronym": "AMD1.",
"accession": "DI-00034",
"synonyms": "Acromesomelic dysplasia, Maroteaux type.; AMDM.; St. Helena dysplasia.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 2A.",
"acronym": "HSAN2A.",
"accession": "DI-00548",
"synonyms": "Acroosteolysis Giaccai type.; Congenital sensory neuropathy.; Hereditary sensory and autonomic neuropathy type IIA.; Hereditary sensory neuropathy type IIA.; Hereditary sensory radicular neuropathy autosomal recessive.; HSAN IIA.; HSN2A.; HSN IIA.; Morvan disease.; Neurogenic acroosteolysis.; Progressive sensory neuropathy of children.; ",
"cross_references": "MeSH; D009477.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Hajdu-Cheney syndrome.",
"acronym": "HJCYS.",
"accession": "DI-02985",
"synonyms": "Acroosteolysis with osteoporosis and changes in skull and mandible.; Arthrodentoosteodysplasia.; Cheney syndrome.; HCS.; Serpentine Fibula-Polycystic Kidney Syndrome.; Serpentine fibula syndrome.; SFPKS.; ",
"cross_references": "MeSH; D031845.",
"definition": "A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. ",
"keywords": "KW-1285:Osteoporosis.; "
}
]
}