{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4760&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4720&ordering=-synonyms","results":[{"identifier":"Frontometaphyseal dysplasia 1.","acronym":"FMD1.","accession":"DI-01631","synonyms":"FMD.; ","cross_references":"MeSH; D010009.","definition":"An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Prekallikrein deficiency.","acronym":"PKKD.","accession":"DI-02188","synonyms":"Fletcher factor deficiency.; PKK deficiency.; ","cross_references":"MeSH; D001778.","definition":"An autosomal recessive condition characterized by a clotting defect due to prolongation of activated partial thromboplastin time. Affected individuals are clinically asymptomatic. ","keywords":null},{"identifier":"Trimethylaminuria.","acronym":"TMAU.","accession":"DI-02389","synonyms":"Fish-odor syndrome.; MeSH; D008661.; ","cross_references":"MedGen; C0342739.","definition":"Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino- trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine. ","keywords":null},{"identifier":"Myopathy, distal, 3.","acronym":"MPD3.","accession":"DI-06754","synonyms":"Finnish upper limb onset distal myopathy.; ","cross_references":"MeSH; D049310.","definition":"An autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles. ","keywords":null},{"identifier":"Salla disease.","acronym":"SD.","accession":"DI-02278","synonyms":"Finnish type sialuria.; ","cross_references":"MedGen; C1096903.","definition":"Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. ","keywords":null},{"identifier":"Ceroid lipofuscinosis, neuronal, 5.","acronym":"CLN5.","accession":"DI-00813","synonyms":"Finnish.; Finnish variant late infantile neuronal ceroid lipofuscinosis.; Neuronal ceroid lipofuscinosis 5 with variable age at onset.; vLINCL.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Scalp-ear-nipple syndrome.","acronym":"SENS.","accession":"DI-03827","synonyms":"Finlay-Marks syndrome.; SEN syndrome.; ","cross_references":"MeSH; D000015.","definition":"A disease characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. ","keywords":null},{"identifier":"Spinal muscular atrophy, proximal, adult, autosomal dominant.","acronym":"SMAPAD.","accession":"DI-01054","synonyms":"Finkel late-adult type SMA.; ","cross_references":"MeSH; D009134.","definition":"A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Fibrosis, neurodegeneration, and cerebral angiomatosis.","acronym":"FINCA.","accession":"DI-05458","synonyms":"FINCA syndrome.; ","cross_references":"MeSH; D020271.","definition":"An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma- like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Facial dysmorphism, immunodeficiency, livedo, and short stature.","acronym":"FILS.","accession":"DI-03708","synonyms":"FILS syndrome.; ","cross_references":"MeSH; D054068.","definition":"A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. ","keywords":null},{"identifier":"Fuhrmann syndrome.","acronym":"FUHRS.","accession":"DI-01637","synonyms":"Fibular aplasia.; Hypoplasia femoral bowing and poly- syn- and oligodactyly.; ","cross_references":"MedGen; C1856728.","definition":"Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia. ","keywords":null},{"identifier":"Zimmermann-Laband syndrome 1.","acronym":"ZLS1.","accession":"DI-04477","synonyms":"Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly.; Gingival fibromatosis, abnormal fingers, fingernails, nose and ears and splenomegaly.; Laband syndrome.; Zimmermann Laband syndrome.; ","cross_references":"MeSH; D000015.","definition":"A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Fibromatosis, gingival, 1.","acronym":"GINGF1.","accession":"DI-01662","synonyms":"Fibromatosis, gingival, hereditary.; GGF1.; GINGF.; Hereditary gingival fibromatosis.; HGF.; ","cross_references":"MeSH; D005351.","definition":"A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common. ","keywords":null},{"identifier":"Fibromatosis, gingival, 5.","acronym":"GINGF5.","accession":"DI-05072","synonyms":"Fibromatosis, gingival, hereditary, 5.; GGF5.; HGF5.; ","cross_references":"MeSH; D005351.","definition":"An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. ","keywords":null},{"identifier":"Birt-Hogg-Dube syndrome 1.","acronym":"BHD1.","accession":"DI-00190","synonyms":"Fibrofolliculomas with trichodiscomas and acrochordons.; Hornstein-Knickenberg syndrome.; ","cross_references":"MeSH; D058249.","definition":"A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Interstitial lung disease 2.","acronym":"ILD2.","accession":"DI-02670","synonyms":"Fibrocystic pulmonary dysplasia.; Fibrosing alveolitis cryptogenic.; Hamman-Rich disease.; Idiopathic pulmonary fibrosis familial.; Interstitial pneumonitis usual.; IPF.; Pulmonary fibrosis, idiopathic.; UIP.; ","cross_references":"MeSH; D054990.","definition":"A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD2 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Foveal hypoplasia 2.","acronym":"FVH2.","accession":"DI-04048","synonyms":"FHONDA.; Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism.; Foveal hypoplasia and anterior segment dysgenesis.; Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.; ","cross_references":"MeSH; D015785.","definition":"An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. ","keywords":null},{"identifier":"Migraine, familial hemiplegic, 1.","acronym":"FHM1.","accession":"DI-01570","synonyms":"FHM.; MHP1.; Migraine familial hemiplegic with progressive cerebellar ataxia.; ","cross_references":"MeSH; D020325.","definition":"A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ","keywords":null},{"identifier":"Immune dysregulation and systemic hyperinflammation syndrome.","acronym":"IMDYSHI.","accession":"DI-05904","synonyms":"FHL6.; Hemophagocytic lymphohistiocytosis, familial, 6.; ","cross_references":"MeSH; D051359.","definition":"An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. ","keywords":null},{"identifier":"Hyperaldosteronism, familial, 4.","acronym":"HALD4.","accession":"DI-04759","synonyms":"FH IV.; Hyperaldosteronism, familial, type IV.; Primary aldosteronism and hypertension.; ","cross_references":"MeSH; D006929.","definition":"A form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. ","keywords":null}]}