{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1460&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1420&ordering=synonyms","results":[{"identifier":"Urban-Rifkin-Davis syndrome.","acronym":"URDS.","accession":"DI-02872","synonyms":"Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities.; ","cross_references":"MeSH; D003483.","definition":"A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. ","keywords":null},{"identifier":"Occipital horn syndrome.","acronym":"OHS.","accession":"DI-00880","synonyms":"Cutis laxa X-linked.; EDS9.; Ehlers-Danlos syndrome occipital horn type.; ","cross_references":"MeSH; D003483.","definition":"An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. ","keywords":null},{"identifier":"Cyclic haematopoiesis.","acronym":"CH.","accession":"DI-01463","synonyms":"Cyclic neutropenia.; ","cross_references":"MeSH; D009503.","definition":"Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. ","keywords":null},{"identifier":"Cystathioninuria.","acronym":"CSTNU.","accession":"DI-01465","synonyms":"Cystathionase deficiency.; ","cross_references":"MeSH; D020138.","definition":"Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. ","keywords":null},{"identifier":"Polycystic lung disease.","acronym":"PCLUD.","accession":"DI-06872","synonyms":"Cystic disease of lung.; ","cross_references":"MeSH; D008171.","definition":"An autosomal recessive disease characterized by pulmonary alveolar proteinosis, marked peribronchovascular and parenchymal lymphocytosis, peribronchiolar pulmonary fibrosis, progressive diffuse parenchymal lung cyst formation and enlargement, progressive obstructive airflow limitation, and recurrent secondary infections. Additional features may include digital clubbing, allergies, and atopic dermatitis. ","keywords":null},{"identifier":"Bronchiectasis with or without elevated sweat chloride 3.","acronym":"BESC3.","accession":"DI-02488","synonyms":"Cystic fibrosis-like syndrome.; ","cross_references":"MeSH; D001987.","definition":"A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ","keywords":null},{"identifier":"Bronchiectasis with or without elevated sweat chloride 2.","acronym":"BESC2.","accession":"DI-02475","synonyms":"Cystic fibrosis-like syndrome.; ","cross_references":"MeSH; D001987.","definition":"A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ","keywords":null},{"identifier":"Bronchiectasis with or without elevated sweat chloride 1.","acronym":"BESC1.","accession":"DI-02489","synonyms":"Cystic fibrosis-like syndrome.; ","cross_references":"MeSH; D001987.","definition":"A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. ","keywords":null},{"identifier":"Cystinosis, adult, non-nephropathic type.","acronym":"CTNSANN.","accession":"DI-02893","synonyms":"Cystinosis adult nonnephropathic.; Cystinosis benign nonnephropathic.; Cystinosis ocular nonnephropathic.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. ","keywords":null},{"identifier":"Cystinosis, nephropathic type.","acronym":"CTNS.","accession":"DI-01467","synonyms":"Cystinosis atypical nephropathic.; Cystinosis infantile nephropathic.; Defect of cystinosin.; Defect of lysosomal cystine transport protein.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. ","keywords":null},{"identifier":"Cystinosis, late-onset juvenile or adolescent nephropathic type.","acronym":"CTNSJAN.","accession":"DI-02894","synonyms":"Cystinosis intermediate.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. ","keywords":null},{"identifier":"Czech dysplasia.","acronym":"CZECHD.","accession":"DI-03158","synonyms":"Czech dysplasia metatarsal type.; Pseudorheumatoid dysplasia progressive with hypoplastic toes.; Spondyloepiphyseal dysplasia with precocious osteoarthritis.; ","cross_references":"MeSH; D010009.","definition":"A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. ","keywords":null},{"identifier":"D-2-hydroxyglutaric aciduria 1.","acronym":"D2HGA1.","accession":"DI-00384","synonyms":"D2HA.; ","cross_references":"MeSH; D020739.","definition":"A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine. ","keywords":null},{"identifier":"Hypouricemia renal 1.","acronym":"RHUC1.","accession":"DI-02256","synonyms":"Dalmatian hypouricemia.; Renal hypouricemia.; ","cross_references":"MeSH; D015499.","definition":"A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. ","keywords":null},{"identifier":"Spondyloepimetaphyseal dysplasia, Strudwick type.","acronym":"SEMDSTWK.","accession":"DI-02343","synonyms":"Dappled metaphysis syndrome.; SEMD, Strudwick type.; SEMDC.; SMD.; SMED, Strudwick type.; SMED type 1.; SMED type I.; Spondyloepiphyseal dysplasia congenita with dappled metaphyses.; Spondylometaepiphyseal dysplasia congenita, Strudwick type.; Spondylometaphyseal dysplasia.; Strudwick syndrome.; ","cross_references":"MeSH; D001848.","definition":"A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Darier disease.","acronym":"DD.","accession":"DI-01473","synonyms":"DAR.; Darier disease acral hemorrhagic type.; Darier disease segmental.; Darier-White disease.; Keratosis follicularis.; ","cross_references":"MeSH; D007644.","definition":"A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild intellectual disability, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi. ","keywords":null},{"identifier":"Orthostatic hypotension 1.","acronym":"ORTHYP1.","accession":"DI-01502","synonyms":"DBH deficiency.; Dopamine beta-hydroxylase deficiency.; Noradrenaline deficiency.; Norepinephrine deficiency.; ","cross_references":"MeSH; D007024.","definition":"A form of orthostatic hypotension due to congenital dopamine beta- hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. ","keywords":null},{"identifier":"Donnai-Barrow syndrome.","acronym":"DBS.","accession":"DI-01501","synonyms":"DBS/FOAR syndrome.; Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.; Faciooculoacousticorenal syndrome.; Facio-oculo-acoustico-renal syndrome.; FOAR syndrome.; ","cross_references":"MeSH; D065630.","definition":"An autosomal recessive syndrome characterized by complete or partial agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss, developmental delay, and proteinuria. There is variability in the expression of some features, such as diaphragmatic hernia, corpus callosum anomalies and proteinuria. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Colorblindness, partial, deutan series.","acronym":"CBD.","accession":"DI-02144","synonyms":"DCB.; Deutan colorblindness.; Deuteranopia.; Green colorblindness.; ","cross_references":"MeSH; D003117.","definition":"A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. ","keywords":null},{"identifier":"Chanarin-Dorfman syndrome.","acronym":"CDS.","accession":"DI-00262","synonyms":"DCS.; Dorfman-Chanarin syndrome.; Ichthyosiform erythroderma with leukocyte vacuolation.; Ichthyotic neutral lipid storage disease.; Neutral lipid storage disease with ichthyosis.; Triglyceride storage disease with impaired long-chain fatty acid oxidation.; ","cross_references":"MeSH; D016113.","definition":"An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; KW-0977:Ichthyosis.; "}]}