{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5740&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5700&ordering=-synonyms","results":[{"identifier":"Nemaline myopathy 7.","acronym":"NEM7.","accession":"DI-02037","synonyms":"CFL2-related nemaline myopathy.; Nemaline myopathy 7, autosomal recessive.; ","cross_references":"MeSH; D017696.","definition":"A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. ","keywords":"KW-1057:Nemaline myopathy.; "},{"identifier":"Complement factor H deficiency.","acronym":"CFHD.","accession":"DI-01377","synonyms":"CFH deficiency.; Factor H deficiency.; ","cross_references":"MeSH; D007154.","definition":"A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. ","keywords":null},{"identifier":"Crouzon syndrome.","acronym":"CS.","accession":"DI-00383","synonyms":"CFD1.; Craniofacial dysostosis type I.; Crouzon craniofacial dysostosis.; ","cross_references":"MeSH; D003394.","definition":"An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Hyperalphalipoproteinemia 1.","acronym":"HALP1.","accession":"DI-01764","synonyms":"CETP deficiency.; Cholesteryl ester transfer protein deficiency.; ","cross_references":"MeSH; D006951.","definition":"A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. ","keywords":null},{"identifier":"Cervical cancer.","acronym":"CERCA.","accession":"DI-02838","synonyms":"Cervix cancer.; Uterine cervical cancer.; ","cross_references":"MeSH; D002583.","definition":"A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. ","keywords":null},{"identifier":"Klippel-Feil syndrome 2, autosomal recessive.","acronym":"KFS2.","accession":"DI-03989","synonyms":"Cervical vertebral fusion autosomal recessive.; KFS autosomal recessive.; ","cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. ","keywords":null},{"identifier":"Klippel-Feil syndrome 1, autosomal dominant.","acronym":"KFS1.","accession":"DI-02534","synonyms":"Cervical vertebral fusion autosomal dominant.; Cervical vertebral fusion congenital.; Congenital Klippel-Feil segment.; Fused cervical segments congenital.; Isolated Klippel-Feil syndrome.; Klippel-Feil malformation.; Klippel-Feil sequence.; ","cross_references":"MeSH; D007714.","definition":"A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. ","keywords":null},{"identifier":"Aceruloplasminemia.","acronym":"ACEP.","accession":"DI-00017","synonyms":"Ceruloplasmin deficiency.; NBIA10.; Neurodegeneration with brain iron accumulation 10.; ","cross_references":"MeSH; D019189.","definition":"An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. ","keywords":null},{"identifier":"Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations.","acronym":"RVCLS.","accession":"DI-00261","synonyms":"Cerebroretinal vasculopathy.; CRV.; Hereditary endotheliopathy with retinopathy-nephropathy-stroke.; HERNS.; Vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena.; ","cross_references":"MeSH; D012164.","definition":"An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1.","acronym":"MDDGA1.","accession":"DI-01132","synonyms":"Cerebroocular dysgenesis.; Cerebroocular dysplasia-muscular dystrophy syndrome.; COD.; COD-MD syndrome.; HARD +/- E syndrome.; HARD syndrome.; Hydrocephalus-agyria-retinal dysplasia.; MEB.; Muscle-eye-brain disease.; Muscle-eye-brain disease POMT1-related.; Muscular dystrophy due to defective glycosylation of dystroglycan 1A.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.; Walker-Warburg syndrome.; Walker-Warburg syndrome POMT1-related.; Warburg syndrome.; WWS.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4.","acronym":"MDDGA4.","accession":"DI-00364","synonyms":"Cerebromuscular dystrophy Fukuyama type.; Congenital muscular dystrophy Fukuyama type.; FCMD.; Micropolygyria with muscular dystrophy.; Muscle-eye-brain disease FKTN-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4.; Walker-Warburg syndrome FKTN-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Peroxisome biogenesis disorder 1A.","acronym":"PBD1A.","accession":"DI-00800","synonyms":"Cerebrohepatorenal syndrome.; Cerebro-hepato-renal syndrome.; CHR syndrome.; Peroxisome biogenesis disorder 1A (Zellweger).; Zellweger's syndrome.; Zellweger syndrome.; ZS.; ZWS.; ","cross_references":"MeSH; D015211.","definition":"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. ","keywords":"KW-0861:Zellweger syndrome.; "},{"identifier":"Baraitser-Winter syndrome 1.","acronym":"BRWS1.","accession":"DI-03416","synonyms":"Cerebrofrontofacial syndrome.; Cerebrooculofacial lymphatic syndrome.; Chromosome 7p22 deletion syndrome.; COFLS.; Fryns-Aftimos syndrome.; ","cross_references":"MeSH; D008607.","definition":"A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. ","keywords":"KW-0991:Intellectual disability.; "},{"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":"Van Maldergem syndrome 1.","acronym":"VMLDS1.","accession":"DI-03982","synonyms":"Cerebrofacioarticular syndrome.; Cerebro-facio-articular syndrome.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.","acronym":"PVHH.","accession":"DI-02824","synonyms":"Cerebral proliferative glomeruloid vasculopathy.; Encephaloclastic proliferative vasculopathy.; EPV.; Fowler syndrome.; Hydranencephaly Fowler type.; Hydrocephaly/hydranencephaly due to cerebral vasculopathy.; PGV.; ","cross_references":"MeSH; D006832.","definition":"A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. ","keywords":null},{"identifier":"Spastic paraplegia 52, autosomal recessive.","acronym":"SPG52.","accession":"DI-03146","synonyms":"Cerebral palsy, spastic quadriplegic 6.; CPSQ6.; ","cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. Some patients may have seizures. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 47, autosomal recessive.","acronym":"SPG47.","accession":"DI-03145","synonyms":"Cerebral palsy, spastic quadriplegic 5.; CPSQ5.; ","cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Spastic paraplegia 51, autosomal recessive.","acronym":"SPG51.","accession":"DI-03061","synonyms":"Cerebral palsy, spastic quadriplegic 4.; CPSQ4.; ","cross_references":"MeSH; D015419.","definition":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "},{"identifier":"Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.","acronym":"NEDSWMA.","accession":"DI-05922","synonyms":"Cerebral palsy, spastic quadriplegic, 1.; CPSQ1.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "}]}