{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4780&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4740&ordering=synonyms","results":[{"identifier":"Alkuraya-Kucinskas syndrome.","acronym":"ALKKUCS.","accession":"DI-05169","synonyms":null,"cross_references":"MeSH; D009421.","definition":"An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ","keywords":null},{"identifier":"Acromicric dysplasia.","acronym":"ACMICD.","accession":"DI-03225","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Acromesomelic dysplasia 4.","acronym":"AMD4.","accession":"DI-06276","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Hypercalcemia, infantile, 2.","acronym":"HCINF2.","accession":"DI-04726","synonyms":null,"cross_references":"MeSH; D006934.","definition":"An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ","keywords":null},{"identifier":"Congenital heart defects, hamartomas of tongue, and polysyndactyly.","acronym":"CHDTHP.","accession":"DI-04320","synonyms":null,"cross_references":"MeSH; D013576.","definition":"A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. ","keywords":null},{"identifier":"Hyperammonemia due to carbonic anhydrase VA deficiency.","acronym":"CA5AD.","accession":"DI-04105","synonyms":null,"cross_references":"MeSH; D022124.","definition":"An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. ","keywords":null},{"identifier":"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.","acronym":"CHDFIDD.","accession":"DI-04952","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Congenital heart defects and skeletal malformations syndrome.","acronym":"CHDSKM.","accession":"DI-05064","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. ","keywords":null},{"identifier":"Congenital heart defects and ectodermal dysplasia.","acronym":"CHDED.","accession":"DI-04953","synonyms":null,"cross_references":"MeSH; D006330.","definition":"An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.","acronym":"HIES6.","accession":"DI-06771","synonyms":null,"cross_references":"MeSH; D007589.","definition":"An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels. ","keywords":null},{"identifier":"Congenital glucose/galactose malabsorption.","acronym":"GGM.","accession":"DI-01402","synonyms":null,"cross_references":"MedGen; C0268186.","definition":"Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. ","keywords":null},{"identifier":"Congenital disorder of glycosylation with defective fucosylation 2.","acronym":"CDGF2.","accession":"DI-05480","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation with defective fucosylation 1.","acronym":"CDGF1.","accession":"DI-05266","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Hydrops, lactic acidosis, and sideroblastic anemia.","acronym":"HLASA.","accession":"DI-04765","synonyms":null,"cross_references":"MeSH; D008659.","definition":"A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. ","keywords":null},{"identifier":"Hydrolethalus syndrome 2.","acronym":"HLS2.","accession":"DI-03208","synonyms":null,"cross_references":"MeSH; D006849.","definition":"An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Hydrolethalus syndrome 1.","acronym":"HLS1.","accession":"DI-01760","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Brittle cornea syndrome 2.","acronym":"BCS2.","accession":"DI-03176","synonyms":null,"cross_references":"MeSH; D004535.","definition":"A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ","keywords":null},{"identifier":"Hydrocephalus, normal pressure, 1.","acronym":"HYDNP1.","accession":"DI-05745","synonyms":null,"cross_references":"MeSH; D006850.","definition":"An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. ","keywords":null},{"identifier":"Hydrocephalus, congenital, 5.","acronym":"HYC5.","accession":"DI-06606","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal dominant 11.","acronym":"MRD11.","accession":"DI-03254","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "}]}