{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1340&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1300&ordering=-identifier","results":[{"identifier":"Posterior column ataxia with retinitis pigmentosa.","acronym":"PCARP.","accession":"DI-03015","synonyms":"AXPC1.; ","cross_references":"MeSH; D012174.","definition":"A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement. ","keywords":"KW-0523:Neurodegeneration.; KW-0682:Retinitis pigmentosa.; "},{"identifier":"Postaxial acrofacial dysostosis.","acronym":"POADS.","accession":"DI-02571","synonyms":"Miller syndrome.; ","cross_references":"MedGen; C0265257.","definition":"POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. ","keywords":null},{"identifier":"Portal hypertension, non-cirrhotic, 2.","acronym":"NCPH2.","accession":"DI-06180","synonyms":null,"cross_references":"MeSH; D006975.","definition":"An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH2 patients have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. ","keywords":null},{"identifier":"Portal hypertension, non-cirrhotic, 1.","acronym":"NCPH1.","accession":"DI-04803","synonyms":"Portal hypertension, noncirrhotic.; ","cross_references":"MeSH; D006975.","definition":"An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH1 patients show normal liver function. ","keywords":null},{"identifier":"Porokeratosis 9, multiple types.","acronym":"POROK9.","accession":"DI-04569","synonyms":null,"cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ","keywords":null},{"identifier":"Porokeratosis 8, disseminated superficial actinic type.","acronym":"POROK8.","accession":"DI-04250","synonyms":null,"cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun- exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near- complete penetrance by the third or fourth decade of life. ","keywords":null},{"identifier":"Porokeratosis 7, multiple types.","acronym":"POROK7.","accession":"DI-04571","synonyms":"Porokeratosis 7, disseminated superficial actinic type.; ","cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ","keywords":null},{"identifier":"Porokeratosis 3, multiple types.","acronym":"POROK3.","accession":"DI-01490","synonyms":"Disseminated superficial actinic porokeratosis 1.; DSAP1.; Porokeratosis, disseminated superficial actinic, 1.; Porokeratosis 3, disseminated superficial actinic type.; ","cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ","keywords":null},{"identifier":"Porokeratosis 1, multiple types.","acronym":"POROK1.","accession":"DI-04570","synonyms":"Porokeratosis 1, Mibelli type.; Porokeratosis of Mibelli.; ","cross_references":"MeSH; D017499.","definition":"A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ","keywords":null},{"identifier":"Poretti-Boltshauser syndrome.","acronym":"PTBHS.","accession":"DI-04197","synonyms":null,"cross_references":"MeSH; D019954.","definition":"An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. ","keywords":null},{"identifier":"Popliteal pterygium syndrome.","acronym":"PPS.","accession":"DI-02181","synonyms":"Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies.; Faciogenitopopliteal syndrome.; ","cross_references":"MeSH; D011625.","definition":"An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. ","keywords":null},{"identifier":"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal.","acronym":"PHRINL.","accession":"DI-05789","synonyms":"PHRINL syndrome.; ","cross_references":"MeSH; D002526.","definition":"An autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. ","keywords":null},{"identifier":"Pontocerebellar hypoplasia 9.","acronym":"PCH9.","accession":"DI-04088","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 8.","acronym":"PCH8.","accession":"DI-03633","synonyms":null,"cross_references":"MeSH; D002526.","definition":"An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 7.","acronym":"PCH7.","accession":"DI-04978","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. ","keywords":"KW-0523:Neurodegeneration.; "},{"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":"Pontocerebellar hypoplasia 5.","acronym":"PCH5.","accession":"DI-04348","synonyms":"Olivopontocerebellar hypoplasia, fetal-onset.; Pontocerebellar hypoplasia type 5.; ","cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 4.","acronym":"PCH4.","accession":"DI-02179","synonyms":"Encephalopathy fatal infantile with olivopontocerebellar hypoplasia.; ","cross_references":"MeSH; D009849.","definition":"A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 3.","acronym":"PCH3.","accession":"DI-04470","synonyms":"Cerebellar atrophy with progressive microcephaly.; CLAM.; PCH with optic atrophy.; ","cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 2F.","acronym":"PCH2F.","accession":"DI-04758","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive. ","keywords":null}]}