{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3020&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2980&ordering=-synonyms","results":[{"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":"Meier-Gorlin syndrome 5.","acronym":"MGORS5.","accession":"DI-03047","synonyms":null,"cross_references":"MeSH; D008844.","definition":"A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ","keywords":"KW-0242:Dwarfism.; "},{"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":"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":"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":"Arthrogryposis multiplex congenita 6.","acronym":"AMC6.","accession":"DI-06114","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy. ","keywords":null},{"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":"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 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, 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":"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":"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":"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":"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 13.","acronym":"ARCI13.","accession":"DI-05041","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 14.","acronym":"ARCI14.","accession":"DI-05040","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":"Limb-mammary syndrome.","acronym":"LMS.","accession":"DI-01907","synonyms":null,"cross_references":"MedGen; C1863753.","definition":"Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal recessive 57.","acronym":"MRT57.","accession":"DI-04875","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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cortical dysplasia, complex, with other brain malformations 2.","acronym":"CDCBM2.","accession":"DI-03883","synonyms":null,"cross_references":"MeSH; D054081.","definition":"A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. ","keywords":null},{"identifier":"Split-hand/foot malformation 4.","acronym":"SHFM4.","accession":"DI-02328","synonyms":null,"cross_references":"MeSH; D017880.","definition":"A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ","keywords":null}]}