{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5200","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5160","results":[{"identifier":"Parkinsonism with polyneuropathy.","acronym":"PKNPY.","accession":"DI-06084","synonyms":null,"cross_references":"MeSH; D020734.","definition":"An autosomal dominant disorder characterized by late-onset, levodopa- responsive parkinsonism with asymmetric tremor, rigidity and bradykinesia. Patients also manifest a sensorimotor polyneuropathy with variable degrees of distal legs and hands muscle atrophy and weakness, and absent deep tendon reflexes. ","keywords":"KW-0622:Neuropathy.; KW-0908:Parkinsonism.; "},{"identifier":"Parkinsonism with spasticity, X-linked.","acronym":"XPDS.","accession":"DI-03948","synonyms":null,"cross_references":"MeSH; D020734.","definition":"A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity. ","keywords":"KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "},{"identifier":"Paroxysmal extreme pain disorder.","acronym":"PEXPD.","accession":"DI-02140","synonyms":"Familial rectal pain.; FRP.; Pain, submandibular, ocular, and rectal, with flushing.; PEPD.; ","cross_references":"MeSH; D010146.","definition":"An autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. ","keywords":null},{"identifier":"Paroxysmal nocturnal hemoglobinuria 1.","acronym":"PNH1.","accession":"DI-02141","synonyms":null,"cross_references":"MeSH; D006457.","definition":"A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. ","keywords":null},{"identifier":"Paroxysmal nocturnal hemoglobinuria 2.","acronym":"PNH2.","accession":"DI-03876","synonyms":null,"cross_references":"MeSH; D006457.","definition":"A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. ","keywords":null},{"identifier":"Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.","acronym":"PNKD3.","accession":"DI-00503","synonyms":"Generalized epilepsy and paroxysmal dyskinesia.; GEPD.; ","cross_references":"MeSH; D004829.","definition":"An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Partial acquired lipodystrophy.","acronym":"APLD.","accession":"DI-02142","synonyms":"APL.; Barraquer-Simons syndrome.; Cephalothoracic type lipodystrophy.; Partial progressive lipodystrophy.; ","cross_references":"MedGen; C0220989.","definition":"A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology. ","keywords":null},{"identifier":"Partington syndrome.","acronym":"PRTS.","accession":"DI-02147","synonyms":"Intellectual developmental disorder, X-linked, syndromic 1.; MRX36.; MRXS1.; ","cross_references":"MeSH; D038901.","definition":"An X-linked developmental disorder characterized by intellectual disability, episodic dystonic hand movements, lower limb spasticity, and dysarthria. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Patent ductus arteriosus 2.","acronym":"PDA2.","accession":"DI-04762","synonyms":null,"cross_references":"MeSH; D004374.","definition":"A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. ","keywords":null},{"identifier":"Patent ductus arteriosus 3.","acronym":"PDA3.","accession":"DI-04763","synonyms":null,"cross_references":"MeSH; D004374.","definition":"A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. ","keywords":null},{"identifier":"Peeling skin syndrome 1.","acronym":"PSS1.","accession":"DI-03006","synonyms":"Deciduous skin.; Keratolysis exfoliativa congenita.; Peeling skin syndrome type B.; Skin peeling familial continuous generalized.; ","cross_references":"MeSH; D003873.","definition":"A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. ","keywords":null},{"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":"Peeling skin syndrome 3.","acronym":"PSS3.","accession":"DI-04350","synonyms":null,"cross_references":"MeSH; D003873.","definition":"A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life. ","keywords":null},{"identifier":"Peeling skin syndrome 4.","acronym":"PSS4.","accession":"DI-03298","synonyms":"AREI.; Exfoliative ichthyosis, autosomal recessive.; Exfoliative ichthyosis autosomal recessive IBS-like.; Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like.; ","cross_references":"MeSH; D007057.","definition":"A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non- erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Peeling skin syndrome 5.","acronym":"PSS5.","accession":"DI-04833","synonyms":null,"cross_references":"MeSH; D003873.","definition":"A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS5 patients manifest hyperkeratosis and superficial peeling of areas of the palmar and dorsal faces of hands and feet. Additional variable features include erythema, superficial scaling of forearms and legs and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Peeling skin syndrome 6.","acronym":"PSS6.","accession":"DI-05307","synonyms":null,"cross_references":"MeSH; D003873.","definition":"A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non- inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS6 patients manifest generalized ichthyotic dry skin, and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Skin symptoms are exacerbated by warmth and humidity. PSS6 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.","acronym":"PLACK.","accession":"DI-04385","synonyms":null,"cross_references":"MeSH; D009260.","definition":"An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma. ","keywords":"KW-1007:Palmoplantar keratoderma.; "},{"identifier":"PEHO-like syndrome.","acronym":"PEHOL.","accession":"DI-05012","synonyms":"PEHO syndrome-like.; ","cross_references":"MeSH; D013036.","definition":"An autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"PEHO syndrome.","acronym":"PEHO.","accession":"DI-04784","synonyms":"Infantile cerebellooptic atrophy.; Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.; ","cross_references":"MeSH; D019636.","definition":"An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe intellectual disability, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Pelger-Huet anomaly.","acronym":"PHA.","accession":"DI-02149","synonyms":null,"cross_references":"MeSH; D010381.","definition":"An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. ","keywords":null}]}