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"count": 6723,
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"results": [
{
"identifier": "GIST-plus syndrome.",
"acronym": "GISTPS.",
"accession": "DI-05623",
"synonyms": "Gastrointestinal stromal tumor/GIST-plus syndrome.; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.; ",
"cross_references": "MeSH; D046152.",
"definition": "A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. ",
"keywords": null
},
{
"identifier": "Gitelman syndrome.",
"acronym": "GTLMNS.",
"accession": "DI-00510",
"synonyms": "Bartter syndrome Gitelman variant.; Bartter syndrome hypocalciuric variant.; Potassium and magnesium depletion.; Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria.; ",
"cross_references": "MeSH; D053579.",
"definition": "An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. ",
"keywords": null
},
{
"identifier": "Glanzmann thrombasthenia 1.",
"acronym": "GT1.",
"accession": "DI-01664",
"synonyms": "BDPLT2.; Bleeding disorder platelet-type 2.; Deficiency of platelet fibrinogen receptor.; Glycoprotein complex IIb-IIIa deficiency.; Platelet glycoprotein IIb-IIIa deficiency.; Thrombasthenia of Glanzmann and Naegeli.; ",
"cross_references": "MeSH; D013915.",
"definition": "A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Glanzmann thrombasthenia 2.",
"acronym": "GT2.",
"accession": "DI-06076",
"synonyms": "BDPLT23.; Bleeding disorder, platelet-type, 23.; ",
"cross_references": "MeSH; D013915.",
"definition": "A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. ",
"keywords": null
},
{
"identifier": "Glaucoma 1, open angle, A.",
"acronym": "GLC1A.",
"accession": "DI-00937",
"synonyms": "JOAG1.; Juvenile-onset primary open angle glaucoma 1.; Primary open angle glaucoma 1A.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, E.",
"acronym": "GLC1E.",
"accession": "DI-00938",
"synonyms": "Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1E.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, F.",
"acronym": "GLC1F.",
"accession": "DI-03767",
"synonyms": "Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1F.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, G.",
"acronym": "GLC1G.",
"accession": "DI-00939",
"synonyms": "Primary open angle glaucoma 1G.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, H.",
"acronym": "GLC1H.",
"accession": "DI-06858",
"synonyms": null,
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1H is an autosomal dominant form manifesting at age between 3 and 40 years, in most patients. Some affected individuals present with glaucoma after age 35 or 40 years. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, O.",
"acronym": "GLC1O.",
"accession": "DI-02594",
"synonyms": "Primary open angle glaucoma 1O.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, P.",
"acronym": "GLC1P.",
"accession": "DI-03709",
"synonyms": "Primary open angle glaucoma 1P.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 3, primary congenital, A.",
"acronym": "GLC3A.",
"accession": "DI-00935",
"synonyms": "Buphthalmos.; Congenital glaucoma.; Glaucoma, primary open angle, adult-onset.; Glaucoma, primary open angle, juvenile-onset.; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset.; GLC3.; Primary congenital glaucoma 3A.; Primary infantile glaucoma type 3A.; ",
"cross_references": "MeSH; D005901.",
"definition": "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 3, primary congenital, D.",
"acronym": "GLC3D.",
"accession": "DI-02595",
"synonyms": "Primary congenital glaucoma 3D.; ",
"cross_references": "MeSH; D005901.",
"definition": "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 3, primary congenital, E.",
"acronym": "GLC3E.",
"accession": "DI-04901",
"synonyms": null,
"cross_references": "MeSH; D005901.",
"definition": "An autosomal dominant form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma, normal pressure.",
"acronym": "NPG.",
"accession": "DI-00879",
"synonyms": "Normal tension glaucoma.; NTG.; ",
"cross_references": "MeSH; D005901.",
"definition": "A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma, primary closed-angle.",
"acronym": "GLCC.",
"accession": "DI-05838",
"synonyms": "Primary angle-closure glaucoma.; ",
"cross_references": "MeSH; D015812.",
"definition": "An autosomal dominant form of primary glaucoma, an ocular disease characterized by a marked increase of intraocular pressure causing damage to eye structures and function. GLCC is characterized by elevated intraocular pressure due to iridocorneal angle closure with retention of the aqueous humor in the anterior chamber. Iridocorneal angle changes are apparent in the fourth to fifth decade of life, and patients manifest age-related variation in the severity of glaucomatous damage. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma, primary open angle.",
"acronym": "POAG.",
"accession": "DI-00936",
"synonyms": "Adult-onset primary open angle glaucoma.; ",
"cross_references": "MeSH; D005902.",
"definition": "A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glioma.",
"acronym": "GLM.",
"accession": "DI-02566",
"synonyms": "Astrocytoma.; Familial glioma of brain.; GBM.; Glioblastoma multiforme.; GLM.; Oligodendroglioma.; ",
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Glioma 1.",
"acronym": "GLM1.",
"accession": "DI-01665",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Glioma 2.",
"acronym": "GLM2.",
"accession": "DI-02567",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
}
]
}