{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4780&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4740&ordering=-synonyms","results":[{"identifier":"Hyperaldosteronism, familial, 2.","acronym":"HALD2.","accession":"DI-05322","synonyms":"FH II.; FH-II.; Hyperaldosteronism, familial, type II.; ","cross_references":"MeSH; D006929.","definition":"An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment. ","keywords":null},{"identifier":"Hypercholesterolemia, familial, 1.","acronym":"FHCL1.","accession":"DI-01577","synonyms":"FH.; FHC.; Hypercholesterolemic xanthomatosis, familial.; Hyperlipoproteinemia, type II.; Hyperlipoproteinemia, type IIA.; Hyper-low-density-lipoproteinemia.; LDL receptor disorder.; ","cross_references":"MeSH; D006938.","definition":"A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Opitz-Kaveggia syndrome.","acronym":"OKS.","accession":"DI-02095","synonyms":"FGS.; FGS1.; FG syndrome.; FG syndrome type 1.; ","cross_references":"MedGen; C0220769.","definition":"X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. ","keywords":null},{"identifier":"Muenke syndrome.","acronym":"MNKS.","accession":"DI-00784","synonyms":"FGFR3-associated coronal synostosis.; FGFR3-related craniosynostosis.; FGFR3-related isolated coronal synostosis.; Muenke non-syndromic coronal craniosynostosis.; ","cross_references":"MeSH; D003398.","definition":"A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero- posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, intellectual disability and respiratory insufficiency. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Epilepsy, familial focal, with variable foci 1.","acronym":"FFEVF1.","accession":"DI-03794","synonyms":"FFEVF.; FPEVF.; Partial epilepsy with variable foci.; ","cross_references":"MeSH; D004828.","definition":"An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Focal facial dermal dysplasia 4.","acronym":"FFDD4.","accession":"DI-03636","synonyms":"FFDD type IV.; Focal facial dermal dysplasia type IV.; ","cross_references":"MeSH; D004476.","definition":"A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Restrictive dermopathy 1.","acronym":"RSDM1.","accession":"DI-01894","synonyms":"Fetal hypokinesia sequence due to restrictive dermopathy.; Hyperkeratosis-contracture syndrome.; Lethal tight skin contracture syndrome.; Restrictive dermopathy 1, lethal.; Tight skin contracture syndrome, lethal.; ","cross_references":"MeSH; D012868.","definition":"An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. ","keywords":null},{"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":"Hypogonadotropic hypogonadism 23 with or without anosmia.","acronym":"HH23.","accession":"DI-01614","synonyms":"Fertile eunuch syndrome.; Pasqualini syndrome.; ","cross_references":"MeSH; D005058.","definition":"A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. ","keywords":"KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Noonan syndrome 1.","acronym":"NS1.","accession":"DI-02072","synonyms":"Female pseudo-Turner syndrome.; Male Turner syndrome.; Noonan-like/multiple giant cell lesion syndrome.; Noonan syndrome.; Noonan syndrome-like disorder with multiple giant cell lesions.; Noonan syndrome with pigmented villonodular synovitis.; Pterygium colli syndrome.; Turner phenotype with normal karyotype.; ","cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. ","keywords":null},{"identifier":"Luteinizing hormone resistance.","acronym":"LHR.","accession":"DI-01902","synonyms":"Female luteinizing hormone resistance.; Hypergonadotropic hypogonadism male due to LHCGR defect.; Leydig cell agenesis.; Leydig cell hypoplasia.; Leydig cell hypoplasia complete.; Leydig cell hypoplasia partial.; Leydig cell hypoplasia type I.; Leydig cell hypoplasia type II.; Leydig cell hypoplasia with male pseudohermaphroditism.; Ovarian luteinizing hormone resistance.; Testicular luteinizing hormone resistance.; ","cross_references":"MeSH; D007006.","definition":"An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. ","keywords":null},{"identifier":"Myoclonus, familial, 1.","acronym":"MYOCL1.","accession":"DI-03616","synonyms":"FCM.; Myoclonus, familial cortical.; ","cross_references":"MeSH; D009207.","definition":"An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. ","keywords":null},{"identifier":"Neurodevelopmental disorder with epilepsy and hemochromatosis.","acronym":"NEDEPH.","accession":"DI-06376","synonyms":"FCCS.; Ferro-cerebro-cutaneous syndrome.; ","cross_references":"MeSH; D065886.","definition":"An X-liked recessive disorder characterized by severe developmental delay, intellectual disability, early-onset epilepsy, and early systemic iron overload resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Myasthenic syndrome, congenital, 1B, fast-channel.","acronym":"CMS1B.","accession":"DI-00367","synonyms":"FCCMS.; Myasthenic syndrome, congenital, fast-channel.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"ARTS syndrome.","acronym":"ARTS.","accession":"DI-01191","synonyms":"Fatal X-linked ataxia with deafness and loss of vision.; MRXS18.; MRXSARTS.; ","cross_references":"MeSH; D038901.","definition":"A disorder characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Mitochondrial DNA depletion syndrome 9.","acronym":"MTDPS9.","accession":"DI-01609","synonyms":"Fatal infantile lactic acidosis.; Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria.; ","cross_references":"MeSH; D017237.","definition":"A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Pontocerebellar hypoplasia 6.","acronym":"PCH6.","accession":"DI-02180","synonyms":"Fatal infantile encephalopathy with mitochondrial respiratory chain defects.; ","cross_references":"MeSH; D002526.","definition":"A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Trichohepatoenteric syndrome 1.","acronym":"THES1.","accession":"DI-03421","synonyms":"Fatal infantile diarrhea with trichorrhexis nodosa.; Intractable diarrhea with phenotypic anomalies.; Phenotypic diarrhea of infancy.; Syndromic diarrhea.; THE syndrome.; ","cross_references":"MeSH; D003968.","definition":"A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. ","keywords":null},{"identifier":"Brachydactyly A1.","acronym":"BDA1.","accession":"DI-00194","synonyms":"Farabee-type brachydactyly.; ","cross_references":"MeSH; D059327.","definition":"A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Fanconi-Bickel syndrome.","acronym":"FBS.","accession":"DI-01605","synonyms":"Fanconi syndrome with intestinal malabsorption and galactose intolerance.; Glycogenosis Fanconi type.; Glycogen storage disease XI.; Hepatic glycogenosis with amino aciduria and glucosuria.; Hepatic glycogenosis with Fanconi nephropathy.; Hepatorenal glycogenosis with renal Fanconi syndrome.; Pseudo-phlorizin diabetes.; ","cross_references":"MeSH; D006008.","definition":"Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. ","keywords":null}]}