{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5700&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5660&ordering=-identifier","results":[{"identifier":"Choanal atresia and lymphedema.","acronym":"CATLPH.","accession":"DI-03023","synonyms":null,"cross_references":"MeSH; D008209.","definition":"A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. ","keywords":null},{"identifier":"Chitayat syndrome.","acronym":"CHYTS.","accession":"DI-04884","synonyms":null,"cross_references":"MeSH; D055091.","definition":"An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. ","keywords":null},{"identifier":"Chilton-Okur-Chung neurodevelopmental syndrome.","acronym":"CHOCNS.","accession":"DI-06399","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Childhood cancer retinoblastoma.","acronym":"RB.","accession":"DI-01340","synonyms":null,"cross_references":"MedGen; C1867262.","definition":"Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. ","keywords":null},{"identifier":"Chilblain lupus 2.","acronym":"CHBL2.","accession":"DI-03338","synonyms":null,"cross_references":"MeSH; D008178.","definition":"A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. ","keywords":null},{"identifier":"Chilblain lupus 1.","acronym":"CHBL1.","accession":"DI-01339","synonyms":"Chilblain lupus erythematosus.; CHLE.; Hutchinson lupus.; ","cross_references":"MeSH; D008178.","definition":"A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. ","keywords":null},{"identifier":"Cherubism.","acronym":"CRBM.","accession":"DI-00296","synonyms":null,"cross_references":"MeSH; D002636.","definition":"An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. ","keywords":null},{"identifier":"Chediak-Higashi syndrome.","acronym":"CHS.","accession":"DI-00295","synonyms":null,"cross_references":"MeSH; D002609.","definition":"A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). ","keywords":null},{"identifier":"Char syndrome.","acronym":"CHAR.","accession":"DI-00294","synonyms":null,"cross_references":"MeSH; D004374.","definition":"An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. ","keywords":null},{"identifier":"CHARGE syndrome.","acronym":"CHARGES.","accession":"DI-01338","synonyms":null,"cross_references":"MedGen; C0265354.","definition":"Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. ","keywords":null},{"identifier":"Charcot-Marie-Tooth disease, X-linked recessive, 5.","acronym":"CMTX5.","accession":"DI-01337","synonyms":"Charcot-Marie-Tooth neuropathy X-linked recessive 5.; Optic atrophy with polyneuropathy and deafness.; Rosenberg-Chutorian syndrome.; ","cross_references":"MeSH; D015417.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia.","acronym":"CMTX4.","accession":"DI-03693","synonyms":"Charcot-Marie-Tooth disease X-linked recessive 4.; Cowchock syndrome.; COWCK.; NADMR.; NAMSD.; ","cross_references":"MeSH; D008607.","definition":"A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "},{"identifier":"Charcot-Marie-Tooth disease, X-linked dominant, 6.","acronym":"CMTX6.","accession":"DI-03842","synonyms":"Charcot-Marie-Tooth neuropathy X-linked 6.; ","cross_references":"MeSH; D015417.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, X-linked dominant, 1.","acronym":"CMTX1.","accession":"DI-00293","synonyms":"Charcot-Marie-Tooth neuropathy X-linked 1.; Charcot-Marie-Tooth peroneal muscular atrophy X-linked.; CMTX.; Hereditary motor and sensory neuropathy X-linked.; HMSN X-linked.; ","cross_references":"MeSH; D015417.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, recessive intermediate D.","acronym":"CMTRID.","accession":"DI-04254","synonyms":null,"cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, recessive intermediate C.","acronym":"CMTRIC.","accession":"DI-03862","synonyms":"Charcot-Marie-Tooth neuropathy recessive intermediate C.; RI-CMTC.; ","cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, recessive intermediate B.","acronym":"CMTRIB.","accession":"DI-02946","synonyms":"Charcot-Marie-Tooth neuropathy recessive intermediate B.; RI-CMTB.; ","cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, recessive intermediate A.","acronym":"CMTRIA.","accession":"DI-00267","synonyms":"Charcot-Marie-Tooth neuropathy recessive intermediate A.; RI-CMTA.; ","cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, dominant intermediate G.","acronym":"CMTDIG.","accession":"DI-05208","synonyms":"Charcot-Marie-Tooth disease, dominant, intermediate type, G.; ","cross_references":"MeSH; D002607.","definition":"An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, dominant intermediate F.","acronym":"CMTDIF.","accession":"DI-03759","synonyms":null,"cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "}]}