{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2320&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2280&ordering=-synonyms","results":[{"identifier":"Immunodeficiency 45.","acronym":"IMD45.","accession":"DI-04586","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. ","keywords":null},{"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":"Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.","acronym":"FPVEPD.","accession":"DI-05120","synonyms":null,"cross_references":"MeSH; D003389.","definition":"An autosomal dominant congenital disorder characterized by non- progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. ","keywords":null},{"identifier":"Facial paresis, hereditary congenital, 3.","acronym":"HCFP3.","accession":"DI-03507","synonyms":null,"cross_references":"MeSH; D005158.","definition":"A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. ","keywords":null},{"identifier":"CK syndrome.","acronym":"CKS.","accession":"DI-03007","synonyms":null,"cross_references":"MeSH; D038901.","definition":"An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hereditary multiple exostoses 2.","acronym":"EXT2.","accession":"DI-01726","synonyms":null,"cross_references":"MedGen; C1851413.","definition":"EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 3, digenic.","acronym":"FSHD3.","accession":"DI-06196","synonyms":null,"cross_references":"MeSH; D020391.","definition":"A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease. ","keywords":null},{"identifier":"Facioscapulohumeral muscular dystrophy 4, digenic.","acronym":"FSHD4.","accession":"DI-06197","synonyms":null,"cross_references":"MeSH; D020391.","definition":"A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. ","keywords":null},{"identifier":"Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias.","acronym":"IMD99.","accession":"DI-06402","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. ","keywords":null},{"identifier":"Fibromuscular dysplasia, multifocal.","acronym":"FMDMF.","accession":"DI-06112","synonyms":null,"cross_references":"MeSH; D005352.","definition":"An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur. ","keywords":null},{"identifier":"Joubert syndrome 37.","acronym":"JBTS37.","accession":"DI-06049","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS37 inheritance is autosomal recessive. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism.","acronym":"IDLDP.","accession":"DI-06447","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures. ","keywords":"KW-0908:Parkinsonism.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; "},{"identifier":"Macular dystrophy, vitelliform, 5.","acronym":"VMD5.","accession":"DI-04287","synonyms":null,"cross_references":"MeSH; D057826.","definition":"A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. ","keywords":null},{"identifier":"Hereditary fructose intolerance.","acronym":"HFI.","accession":"DI-01713","synonyms":null,"cross_references":"MedGen; C0016751.","definition":"Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life. ","keywords":null},{"identifier":"Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia.","acronym":"IMD73B.","accession":"DI-05898","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood. ","keywords":null},{"identifier":"Fanconi anemia complementation group Q.","acronym":"FANCQ.","accession":"DI-03812","synonyms":null,"cross_references":"MeSH; D005199.","definition":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ","keywords":"KW-0923:Fanconi anemia.; "},{"identifier":"Hyperimmunoglobulinemia D and periodic fever syndrome.","acronym":"HIDS.","accession":"DI-01768","synonyms":null,"cross_references":"MedGen; C0398691.","definition":"Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. ","keywords":null},{"identifier":"Familial adenomatous polyposis 3.","acronym":"FAP3.","accession":"DI-04455","synonyms":null,"cross_references":"MeSH; D018256.","definition":"A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ","keywords":null},{"identifier":"Familial adenomatous polyposis 4.","acronym":"FAP4.","accession":"DI-04840","synonyms":null,"cross_references":"MeSH; D018256.","definition":"A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Nijmegen breakage syndrome.","acronym":"NBS.","accession":"DI-02058","synonyms":null,"cross_references":"MeSH; D049932.","definition":"A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. ","keywords":null}]}