{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4620&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4580&ordering=synonyms","results":[{"identifier":"Ichthyosis, congenital, autosomal recessive 12.","acronym":"ARCI12.","accession":"DI-04921","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, congenital, autosomal recessive 10.","acronym":"ARCI10.","accession":"DI-03671","synonyms":null,"cross_references":"MeSH; D017490.","definition":"A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis, annular epidermolytic, 2.","acronym":"AEI2.","accession":"DI-06539","synonyms":null,"cross_references":"MeSH; D007057.","definition":"A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 12.","acronym":"CDCBM12.","accession":"DI-06642","synonyms":null,"cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM12 is characterized by severe to profound neurodevelopmental delay, microcephaly, cortical visual impairment, craniofacial dysmorphism, and seizures. Brain imaging shows lissencephaly, severe hypoplasia or absence of the corpus callosum, cerebellar hypodysplasia, and dysplasia of the basal ganglia, hippocampus and midbrain. ","keywords":"KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Ichthyosis with erythrokeratoderma.","acronym":"IEKD.","accession":"DI-06761","synonyms":null,"cross_references":"MeSH; D007057.","definition":"An autosomal dominant genodermatosis characterized by early-onset ichthyosiform erythroderma with excessive skin scaling and peeling, and erythematous hyperkeratotic plaques. Lesions are present at birth or appear soon after. ","keywords":"KW-0977:Ichthyosis.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 11.","acronym":"CDCBM11.","accession":"DI-06564","synonyms":null,"cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects. ","keywords":null},{"identifier":"Carboxypeptidase N deficiency.","acronym":"CPND.","accession":"DI-01316","synonyms":null,"cross_references":"MedGen; C0398782.","definition":"Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. ","keywords":null},{"identifier":"Arthrogryposis, distal, 11.","acronym":"DA11.","accession":"DI-06491","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination. ","keywords":null},{"identifier":"Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.","acronym":"ACCIID.","accession":"DI-05453","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures. ","keywords":"KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "},{"identifier":"Alpha-thalassemia.","acronym":"A-THAL.","accession":"DI-01181","synonyms":null,"cross_references":"MeSH; D017085.","definition":"A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 10.","acronym":"CDCBM10.","accession":"DI-05688","synonyms":null,"cross_references":"MeSH; D054220.","definition":"An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. ","keywords":"KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Ichthyosis hystrix-like with deafness syndrome.","acronym":"HID syndrome.","accession":"DI-00586","synonyms":null,"cross_references":"MeSH; D007057.","definition":"An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. ","keywords":"KW-0209:Deafness.; KW-0977:Ichthyosis.; "},{"identifier":"Ichthyosis hystrix, Curth-Macklin type.","acronym":"IHCM.","accession":"DI-00585","synonyms":null,"cross_references":"MeSH; D007057.","definition":"A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. ","keywords":"KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Cortical malformations occipital.","acronym":"OCCM.","accession":"DI-03207","synonyms":null,"cross_references":"MeSH; D054220.","definition":"A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes. ","keywords":null},{"identifier":"Cortical dysplasia, complex, with other brain malformations 1.","acronym":"CDCBM1.","accession":"DI-03150","synonyms":null,"cross_references":"MeSH; D054081.","definition":"A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe intellectual disability, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hypouricemia renal 2.","acronym":"RHUC2.","accession":"DI-03137","synonyms":null,"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":"Coronary heart disease 7.","acronym":"CHDS7.","accession":"DI-02841","synonyms":null,"cross_references":"MeSH; D003327.","definition":"A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ","keywords":null},{"identifier":"Capillary malformation-arteriovenous malformation 2.","acronym":"CMAVM2.","accession":"DI-05392","synonyms":null,"cross_references":"MeSH; D054079.","definition":"An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. ","keywords":null},{"identifier":"Hypotrichosis-lymphedema-telangiectasia syndrome.","acronym":"HLTS.","accession":"DI-01804","synonyms":null,"cross_references":"MeSH; D013684.","definition":"A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Coronary heart disease 6.","acronym":"CHDS6.","accession":"DI-03346","synonyms":null,"cross_references":"MeSH; D003324.","definition":"A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ","keywords":null}]}