Human Disease List
GET /api/human_diseases/?format=api&offset=1420&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1440&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1400&ordering=-identifier", "results": [ { "identifier": "Pilarowski-Bjornsson syndrome.", "acronym": "PILBOS.", "accession": "DI-05102", "synonyms": "Developmental delay and speech apraxia with or without seizures.; ", "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Pigmented paravenous chorioretinal atrophy.", "acronym": "PPCRA.", "accession": "DI-02166", "synonyms": null, "cross_references": "MedGen; C1868310.", "definition": "Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein. ", "keywords": null }, { "identifier": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked.", "acronym": "PDR.", "accession": "DI-04788", "synonyms": "XLPDR.; ", "cross_references": "MeSH; D010859.", "definition": "An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines. ", "keywords": null }, { "identifier": "Pierson syndrome.", "acronym": "PIERS.", "accession": "DI-02165", "synonyms": "Microcoria-congenital nephrotic syndrome.; ", "cross_references": "MeSH; D009404.", "definition": "An autosomal recessive disorder characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis, and eye abnormalities with microcoria and hypoplasia of the ciliary and pupillary muscles. Death usually occurs within the first weeks of life. Patients who survive tend to show neurodevelopmental delay and visual loss. ", "keywords": null }, { "identifier": "Pierpont syndrome.", "acronym": "PRPTS.", "accession": "DI-04736", "synonyms": "Plantar lipomatosis, unusual facies, and developmental delay.; ", "cross_references": "MeSH; D019066.", "definition": "An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. ", "keywords": null }, { "identifier": "Piebald trait.", "acronym": "PBT.", "accession": "DI-02164", "synonyms": "Piebaldism.; ", "cross_references": "MedGen; C0080024.", "definition": "Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. ", "keywords": null }, { "identifier": "Pick disease of the brain.", "acronym": "PIDB.", "accession": "DI-02937", "synonyms": "Dementia with lobar atrophy and neuronal cytoplasmic inclusions.; Lobar atrophy of brain.; ", "cross_references": "MeSH; D020774.", "definition": "A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Phosphoserine phosphatase deficiency.", "acronym": "PSPHD.", "accession": "DI-00010", "synonyms": null, "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome. ", "keywords": null }, { "identifier": "Phosphoserine aminotransferase deficiency.", "acronym": "PSATD.", "accession": "DI-02163", "synonyms": null, "cross_references": "MedGen; C1970253.", "definition": "Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. ", "keywords": null }, { "identifier": "Phosphoribosylpyrophosphate synthetase superactivity.", "acronym": "PRPS1 superactivity.", "accession": "DI-02162", "synonyms": "PRPS-related gout.; ", "cross_references": "MedGen; C1970827.", "definition": "Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. ", "keywords": null }, { "identifier": "Phosphoribosylaminoimidazole carboxylase deficiency.", "acronym": "PAICSD.", "accession": "DI-06408", "synonyms": null, "cross_references": "MeSH; D011686.", "definition": "An autosomal recessive inborn error of purine metabolism, clinically characterized by multiple congenital anomalies and early neonatal death. ", "keywords": null }, { "identifier": "Phosphohydroxylysinuria.", "acronym": "PHLU.", "accession": "DI-03669", "synonyms": null, "cross_references": "MeSH; D008661.", "definition": "A condition characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. ", "keywords": null }, { "identifier": "Phosphoglycerate kinase 1 deficiency.", "acronym": "PGK1D.", "accession": "DI-02753", "synonyms": "PGK1 deficiency.; ", "cross_references": "MeSH; D020739.", "definition": "A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. ", "keywords": "KW-0360:Hereditary hemolytic anemia.; " }, { "identifier": "Phosphoglycerate dehydrogenase deficiency.", "acronym": "PHGDHD.", "accession": "DI-02161", "synonyms": "PHGDH deficiency.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures. ", "keywords": null }, { "identifier": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic.", "acronym": "PCKDC.", "accession": "DI-01470", "synonyms": "PCK1 deficiency, cytosolic.; PEPCK deficiency, cytosolic.; ", "cross_references": "MeSH; D002239.", "definition": "An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine. ", "keywords": null }, { "identifier": "PHOAR2-enteropathy syndrome.", "acronym": "PHOAR2E.", "accession": "DI-03345", "synonyms": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 2.; Hypertrophic osteoarthropathy, primary, autosomal recessive, 2/enteropathy syndrome.; Pachydermoperiostosis, autosomal recessive.; PDP, autosomal recessive.; PHOAR2.; ", "cross_references": "MeSH; D010004.", "definition": "An autosomal recessive disease characterized by primary hypertrophic osteoarthropathy and/or chronic non-specific ulcers of the small intestine. Affected individuals present with digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Chronic ulcers of the small intestine result in abdominal pain and watery diarrhea, and are associated with chronic anemia. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. ", "keywords": null }, { "identifier": "Pheochromocytoma/paraganglioma syndrome 7.", "acronym": "PPGL7.", "accession": "DI-05591", "synonyms": "Paragangliomas 7.; PGL7.; ", "cross_references": "MeSH; D010235.", "definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. PPGL7 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Pheochromocytoma/paraganglioma syndrome 6.", "acronym": "PPGL6.", "accession": "DI-05590", "synonyms": "Paragangliomas 6.; PGL6.; ", "cross_references": "MeSH; D010235.", "definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL6 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Pheochromocytoma/paraganglioma syndrome 5.", "acronym": "PPGL5.", "accession": "DI-03195", "synonyms": "Paragangliomas 5.; PGL5.; ", "cross_references": "MeSH; D010235.", "definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL5 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Pheochromocytoma/paraganglioma syndrome 4.", "acronym": "PPGL4.", "accession": "DI-01735", "synonyms": "Carotid body tumors and multiple extraadrenal pheochromocytomas.; Familial chromaffin paraganglioma 4.; Paraganglioma familial malignant.; Paragangliomas 4.; Paragangliomas hereditary extraadrenal.; PGL4.; Pheochromocytoma extraadrenal and cervical paraganglioma.; Pheochromocytoma familial extraadrenal.; ", "cross_references": "MeSH; D010235.", "definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant. ", "keywords": null } ] }