{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6440&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6400&ordering=-identifier","results":[{"identifier":"Aniridia 2.","acronym":"AN2.","accession":"DI-04858","synonyms":null,"cross_references":"MeSH; D015783.","definition":"A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ","keywords":null},{"identifier":"Aniridia 1.","acronym":"AN1.","accession":"DI-01184","synonyms":"AN.; AN2.; Aniridia type II.; ","cross_references":"MeSH; D015783.","definition":"A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ","keywords":null},{"identifier":"Anhidrosis, isolated, with normal sweat glands.","acronym":"ANHD.","accession":"DI-04405","synonyms":"Anhidrosis, familial generalized, with normal sweat glands.; Dann-Epstein-Sohar syndrome.; ","cross_references":"MeSH; D007007.","definition":"An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. ","keywords":null},{"identifier":"Anhaptoglobinemia.","acronym":"AHP.","accession":"DI-03152","synonyms":"Ahaptoglobinemia.; Hypohaptoglobinemia.; ","cross_references":"MeSH; D001796.","definition":"A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions. ","keywords":null},{"identifier":"Angiomatoid fibrous histiocytoma.","acronym":"AFH.","accession":"DI-02611","synonyms":null,"cross_references":"MeSH; D051677.","definition":"A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. ","keywords":null},{"identifier":"Angioedema induced by ACE inhibitors.","acronym":"AEACEI.","accession":"DI-03955","synonyms":"AE-ACEI.; ","cross_references":"MeSH; D064420.","definition":"A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ","keywords":null},{"identifier":"Angioedema, hereditary, 8.","acronym":"HAE8.","accession":"DI-06128","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Angioedema, hereditary, 7.","acronym":"HAE7.","accession":"DI-06127","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. ","keywords":null},{"identifier":"Angioedema, hereditary, 6.","acronym":"HAE6.","accession":"DI-06126","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood. ","keywords":null},{"identifier":"Angioedema, hereditary, 5.","acronym":"HAE5.","accession":"DI-06125","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. ","keywords":null},{"identifier":"Angioedema, hereditary, 4.","acronym":"HAE4.","accession":"DI-06124","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance. ","keywords":null},{"identifier":"Angioedema, hereditary, 3.","acronym":"HAE3.","accession":"DI-00544","synonyms":"Angioedema, hereditary, type III.; Angioneurotic edema hereditary with normal C1 inhibitor concentration and function.; Estrogen-related HAE.; Estrogen-sensitive HAE.; HAE with normal C1 inhibitor concentration and function.; Hereditary angioedema with normal C1 inhibitor activity.; ","cross_references":"MeSH; D056828.","definition":"A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). ","keywords":null},{"identifier":"Angioedema, hereditary, 1.","acronym":"HAE1.","accession":"DI-00543","synonyms":"C1 esterase inhibitor deficiency.; HANE.; Hereditary angioneurotic edema.; ","cross_references":"MeSH; D054179.","definition":"An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. ","keywords":null},{"identifier":"Angelman syndrome.","acronym":"AS.","accession":"DI-00121","synonyms":"Happy puppet syndrome.; ","cross_references":"MeSH; D017204.","definition":"A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue. ","keywords":null},{"identifier":"Aneurysm, intracranial berry, 12.","acronym":"ANIB12.","accession":"DI-05735","synonyms":null,"cross_references":"MeSH; D002532.","definition":"A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage. ","keywords":null},{"identifier":"Anencephaly 2.","acronym":"ANPH2.","accession":"DI-06156","synonyms":null,"cross_references":"MeSH; D000757.","definition":"A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Anencephaly 1.","acronym":"ANPH1.","accession":"DI-05078","synonyms":"Anencephalus.; ANPH.; ","cross_references":"MeSH; D000757.","definition":"An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Anemia without thrombocytopenia, X-linked.","acronym":"XLAWT.","accession":"DI-03055","synonyms":"Anemia X-linked with variable neutropenia.; ","cross_references":"MeSH; D000740.","definition":"A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. ","keywords":null},{"identifier":"Anemia, sideroblastic, spinocerebellar ataxia.","acronym":"ASAT.","accession":"DI-02459","synonyms":"Pagon Bird Detter syndrome.; ","cross_references":"MeSH; D020754.","definition":"An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. ","keywords":null},{"identifier":"Anemia, sideroblastic, 5.","acronym":"SIDBA5.","accession":"DI-06225","synonyms":null,"cross_references":"MeSH; D000756.","definition":"A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive. ","keywords":null}]}