{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1540&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1500&ordering=-synonyms","results":[{"identifier":"Arthrogryposis, distal, 1B.","acronym":"DA1B.","accession":"DI-03302","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. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. ","keywords":null},{"identifier":"Developmental delay, hypotonia, and impaired language.","acronym":"DEDHIL.","accession":"DI-06489","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, language difficulties, hypotonia, and gastrointestinal problems. Brain imaging shows variable structural abnormalities affecting the cerebellum, corpus collosum, and white matter. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cardiofaciocutaneous syndrome 2.","acronym":"CFC2.","accession":"DI-03779","synonyms":null,"cross_references":"MeSH; D006330.","definition":"A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "},{"identifier":"Deafness, Y-linked 2.","acronym":"DFNY2.","accession":"DI-05525","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Cowden syndrome 4.","acronym":"CWS4.","accession":"DI-03695","synonyms":null,"cross_references":"MeSH; D006223.","definition":"A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ","keywords":null},{"identifier":"Cowden syndrome 5.","acronym":"CWS5.","accession":"DI-03696","synonyms":null,"cross_references":"MeSH; D006223.","definition":"A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ","keywords":null},{"identifier":"Cowden syndrome 6.","acronym":"CWS6.","accession":"DI-03697","synonyms":null,"cross_references":"MeSH; D006223.","definition":"A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ","keywords":null},{"identifier":"Cowden syndrome 7.","acronym":"CWS7.","accession":"DI-04679","synonyms":null,"cross_references":"MeSH; D006223.","definition":"A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay.","acronym":"CCDDRD.","accession":"DI-06742","synonyms":null,"cross_references":"MeSH; D000093922.","definition":"An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Cardiofacioneurodevelopmental syndrome.","acronym":"CFNDS.","accession":"DI-05989","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Deafness, autosomal recessive, 103.","acronym":"DFNB103.","accession":"DI-04268","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Epilepsy, early-onset, 3, with or without developmental delay.","acronym":"EPEO3.","accession":"DI-06741","synonyms":null,"cross_references":"MeSH; D004830.","definition":"An autosomal dominant neurologic disorder characterized by various types of seizures with onset in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. Some affected individuals have global developmental delay or regression, impaired intellectual development, poor or absent speech, and motor delay. Additional variable features include hypotonia, gait ataxia, behavioral abnormalities, and anomalies on brain imaging. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction.","acronym":"CMD1AA.","accession":"DI-00211","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Intellectual developmental disorder, autosomal dominant 43.","acronym":"MRD43.","accession":"DI-04747","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. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Craniofacial anomalies and anterior segment dysgenesis syndrome.","acronym":"CAASDS.","accession":"DI-03261","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1BB.","acronym":"CMD1BB.","accession":"DI-02483","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.","acronym":"CFSMR2.","accession":"DI-06460","synonyms":null,"cross_references":"MeSH; D019465.","definition":"An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cardiomyopathy, dilated, 1R.","acronym":"CMD1R.","accession":"DI-00223","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Craniofacial microsomia 2.","acronym":"CFM2.","accession":"DI-06720","synonyms":null,"cross_references":"MeSH; D006053.","definition":"A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. ","keywords":null},{"identifier":"Intellectual developmental disorder, X-linked, syndromic, Houge type.","acronym":"MRXSHG.","accession":"DI-05156","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A disorder characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. ","keywords":"KW-0991:Intellectual disability.; "}]}