{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5280&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5240&ordering=identifier","results":[{"identifier":"Peroxisome biogenesis disorder complementation group 9.","acronym":"PBD-CG9.","accession":"DI-00919","synonyms":"CG9.; PBD-CGD.; Peroxisome biogenesis disorder complementation group D.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group K.","acronym":"PBD-CGK.","accession":"DI-02154","synonyms":null,"cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Perrault syndrome 1.","acronym":"PRLTS1.","accession":"DI-03133","synonyms":"Gonadal dysgenesis XX type with deafness.; Ovarian dysgenesis with sensorineural deafness.; ","cross_references":"MeSH; D023961.","definition":"A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild intellectual disability and cerebellar and peripheral nervous system involvement. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perrault syndrome 2.","acronym":"PRLTS2.","accession":"DI-03615","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perrault syndrome 3.","acronym":"PRLTS3.","accession":"DI-03818","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perrault syndrome 4.","acronym":"PRLTS4.","accession":"DI-03819","synonyms":null,"cross_references":"MeSH; D023961.","definition":"An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perrault syndrome 5.","acronym":"PRLTS5.","accession":"DI-04281","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perrault syndrome 6.","acronym":"PRLTS6.","accession":"DI-05039","synonyms":null,"cross_references":"MeSH; D023961.","definition":"A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Perry syndrome.","acronym":"PERRYS.","accession":"DI-02797","synonyms":"Parkinsonism with alveolar hypoventilation and mental depression.; ","cross_references":"MeSH; D020734.","definition":"A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. ","keywords":"KW-0908:Parkinsonism.; "},{"identifier":"Persistent hyperplastic primary vitreous, autosomal recessive.","acronym":"PHPVAR.","accession":"DI-03277","synonyms":"Congenital non-syndromic retinal non-attachment.; NCRNA.; Persistent fetal vasculature.; Retinal detachment congenital.; Retinal non-attachment and falciform detachment.; RNANC.; ","cross_references":"MeSH; D012163.","definition":"A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. ","keywords":null},{"identifier":"Persistent Muellerian duct syndrome 1.","acronym":"PMDS1.","accession":"DI-02155","synonyms":"Persistent Muellerian duct syndrome type I.; PMDS-1.; ","cross_references":"MedGen; C1849930.","definition":"A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. ","keywords":null},{"identifier":"Persistent Muellerian duct syndrome 2.","acronym":"PMDS2.","accession":"DI-02156","synonyms":"Persistent Muellerian duct syndrome type II.; PMDS-2.; ","cross_references":"MedGen; C1849930.","definition":"A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. ","keywords":null},{"identifier":"Persistent polyclonal B-cell lymphocytosis.","acronym":"PPBL.","accession":"DI-03717","synonyms":null,"cross_references":"MeSH; D008218.","definition":"An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ","keywords":null},{"identifier":"Peters-plus syndrome.","acronym":"PTRPLS.","accession":"DI-02158","synonyms":"Krause-Kivlin syndrome.; Peters anomaly with short-limb dwarfism.; ","cross_references":"MeSH; D017880.","definition":"An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Pettigrew syndrome.","acronym":"PGS.","accession":"DI-04207","synonyms":"MRX59.; MRXS21.; MRXS5.; MRXSF.; ","cross_references":"MeSH; D038901.","definition":"An X-linked syndrome characterized by intellectual disability and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Peutz-Jeghers syndrome.","acronym":"PJS.","accession":"DI-00923","synonyms":"Intestinal hamartomatous polyposis.; Polyps-and-spots syndrome.; ","cross_references":"MeSH; D010580.","definition":"An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer. ","keywords":null},{"identifier":"Pfeiffer syndrome.","acronym":"PS.","accession":"DI-00924","synonyms":"Acrocephalosyndactyly type 5.; ACS5.; ACS V.; ","cross_references":"MeSH; D000168.","definition":"A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Phelan-McDermid syndrome.","acronym":"PHMDS.","accession":"DI-03945","synonyms":"Chromosome 22q13.3 deletion syndrome.; Telomeric 22q13 monosomy syndrome.; ","cross_references":"MeSH; D002872.","definition":"A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features. ","keywords":null},{"identifier":"Phenylketonuria.","acronym":"PKU.","accession":"DI-02159","synonyms":null,"cross_references":"MedGen; C2678416.","definition":"Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes intellectual disability (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. ","keywords":null},{"identifier":"Pheochromocytoma.","acronym":"PCC.","accession":"DI-02160","synonyms":"Chromaffin cell tumor.; Medullary chromaffinoma.; Medullary paraganglioma.; Pheochromoblastoma.; ","cross_references":"MeSH; D010673.","definition":"A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. ","keywords":null}]}