Human Disease List
GET /api/human_diseases/?format=api&offset=1400&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1420&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1380&ordering=-identifier", "results": [ { "identifier": "Plasminogen deficiency.", "acronym": "PLGD.", "accession": "DI-02666", "synonyms": "Dysplasminogenemia.; Hypoplasminogenemia.; Ligneous conjunctivitis.; Plasminogen deficiency type I.; Plasminogen deficiency type II.; ", "cross_references": "MeSH; D003231.", "definition": "A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. ", "keywords": null }, { "identifier": "Plasminogen activator inhibitor-1 deficiency.", "acronym": "PAI-1D.", "accession": "DI-02169", "synonyms": null, "cross_references": "MeSH; D025861.", "definition": "A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. ", "keywords": null }, { "identifier": "Pityriasis rubra pilaris.", "acronym": "PRP.", "accession": "DI-03513", "synonyms": null, "cross_references": "MeSH; D010916.", "definition": "A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. ", "keywords": null }, { "identifier": "Pituitary hormone deficiency, combined or isolated, 8.", "acronym": "CPHD8.", "accession": "DI-06636", "synonyms": null, "cross_references": "MeSH; D004393.", "definition": "An autosomal dominant disorder characterized by short stature due to growth hormone deficiency, variable deficiencies of other pituitary hormones, and pituitary abnormalities. Many CPHD8 patients present with pituitary stalk interruption syndrome that is characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined or isolated, 7.", "acronym": "CPHD7.", "accession": "DI-05359", "synonyms": "Growth hormone deficiency, isolated, 5.; Growth hormone deficiency, isolated, type V.; IGHD5.; Isolated growth hormone deficiency, type V.; ", "cross_references": "MeSH; D004393.", "definition": "An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined, 6.", "acronym": "CPHD6.", "accession": "DI-03174", "synonyms": null, "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. ", "keywords": null }, { "identifier": "Pituitary hormone deficiency, combined, 5.", "acronym": "CPHD5.", "accession": "DI-02582", "synonyms": null, "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined, 4.", "acronym": "CPHD4.", "accession": "DI-02299", "synonyms": "Pituitary hormone deficiency combined with or without cerebellar defects.; Short stature pituitary and cerebellar defects and small sella turcica.; ", "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined, 3.", "acronym": "CPHD3.", "accession": "DI-02580", "synonyms": "Combined pituitary hormone deficiency with rigid cervical spine.; Sensorineural deafness with pituitary dwarfism.; ", "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined, 2.", "acronym": "CPHD2.", "accession": "DI-01369", "synonyms": "Ateliotic dwarfism with hypogonadism.; Hanhart dwarfism.; Panhypopituitarism.; Pituitary dwarfism III.; ", "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary hormone deficiency, combined, 1.", "acronym": "CPHD1.", "accession": "DI-01563", "synonyms": null, "cross_references": "MeSH; D007018.", "definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Pituitary adenoma 5, multiple types.", "acronym": "PITA5.", "accession": "DI-05087", "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. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance. ", "keywords": null }, { "identifier": "Pituitary adenoma 4, ACTH-secreting.", "acronym": "PITA4.", "accession": "DI-01168", "synonyms": "Cushing disease.; Pituitary Cushing disease.; ", "cross_references": "MeSH; D049913.", "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. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ", "keywords": "KW-1062:Cushing syndrome.; " }, { "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": "Pituitary adenoma 2, growth hormone-secreting.", "acronym": "PITA2.", "accession": "DI-04304", "synonyms": "Acromegaly, X-linked.; Acromegaly due to pituitary adenoma 2.; ", "cross_references": "MeSH; D049912.", "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. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature. ", "keywords": null }, { "identifier": "Pituitary adenoma 1, multiple types.", "acronym": "PITA1.", "accession": "DI-01689", "synonyms": "Acromegaly due to pituitary adenoma.; Acromegaly due to pituitary adenoma 1.; Familial isolated pituitary adenoma.; Familial isolated somatotropinomas.; Familial somatotrophinoma.; FIPA.; FIS.; IFS.; Isolated familial somatotropinoma.; PAGH1.; Pituitary adenoma, growth hormone-secreting, 1.; ", "cross_references": "MeSH; D049912.", "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": "Pitt-Hopkins syndrome.", "acronym": "PTHS.", "accession": "DI-02168", "synonyms": "Encephalopathy severe epileptic with autonomic dysfunction.; ", "cross_references": "MeSH; D008607.", "definition": "A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Pitt-Hopkins-like syndrome 2.", "acronym": "PTHSL2.", "accession": "DI-03301", "synonyms": "MeSH; D006985.; MeSH; D008607.; ", "cross_references": "MedGen; C3280479.", "definition": "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Pitt-Hopkins-like syndrome 1.", "acronym": "PTHSL1.", "accession": "DI-03300", "synonyms": "MeSH; D006985.; MeSH; D008607.; ", "cross_references": "MedGen; C2750246.", "definition": "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt- Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Pilomatrixoma.", "acronym": "PTR.", "accession": "DI-02167", "synonyms": null, "cross_references": "MedGen; C0206711.", "definition": "Common benign skin tumor. ", "keywords": null } ] }