{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6480&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6440&ordering=synonyms","results":[{"identifier":"Pituitary adenoma 3, multiple types.","acronym":"PITA3.","accession":"DI-05088","synonyms":null,"cross_references":"MeSH; D010911.","definition":"A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. ","keywords":null},{"identifier":"Pilomatrixoma.","acronym":"PTR.","accession":"DI-02167","synonyms":null,"cross_references":"MedGen; C0206711.","definition":"Common benign skin tumor. ","keywords":null},{"identifier":"Transient neonatal diabetes mellitus 2.","acronym":"TNDM2.","accession":"DI-02381","synonyms":null,"cross_references":"MedGen; C1835887.","definition":"Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. ","keywords":null},{"identifier":"Transient neonatal diabetes mellitus 3.","acronym":"TNDM3.","accession":"DI-02382","synonyms":null,"cross_references":"MedGen; C1864623.","definition":"Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. ","keywords":null},{"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":"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":"Treacher Collins syndrome 2.","acronym":"TCS2.","accession":"DI-02964","synonyms":null,"cross_references":"MeSH; D008342.","definition":"A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. ","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":"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":"Tremor, hereditary essential 1.","acronym":"ETM1.","accession":"DI-02733","synonyms":null,"cross_references":"MeSH; D020329.","definition":"A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Tremor, hereditary essential 4.","acronym":"ETM4.","accession":"DI-03518","synonyms":null,"cross_references":"MeSH; D020329.","definition":"A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Tremor, hereditary essential 5.","acronym":"ETM5.","accession":"DI-04630","synonyms":null,"cross_references":"MeSH; D020329.","definition":"A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Tremor, hereditary essential 6.","acronym":"ETM6.","accession":"DI-05828","synonyms":null,"cross_references":"MeSH; D020329.","definition":"A form of essential tremor, a common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. ETM6 inheritance is autosomal dominant. ","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":"Tricho-rhino-phalangeal syndrome 2.","acronym":"TRPS2.","accession":"DI-02005","synonyms":null,"cross_references":"MedGen; C0023003.","definition":"A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability. ","keywords":null},{"identifier":"Premature ovarian failure 12.","acronym":"POF12.","accession":"DI-04723","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"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":"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":"Trichohepatoenteric syndrome 2.","acronym":"THES2.","accession":"DI-03422","synonyms":null,"cross_references":"MeSH; D003968.","definition":"A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. ","keywords":null}]}