{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5720&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5680&ordering=-synonyms","results":[{"identifier":"Neuropathy, hereditary motor and sensory, 6B, with optic atrophy.","acronym":"HMSN6B.","accession":"DI-04538","synonyms":"Charcot-Marie-Tooth disease 6B.; CMT6B.; Hereditary motor and sensory neuropathy type VIB.; HMSN VIB.; Neuropathy, hereditary motor and sensory, type VIB.; ","cross_references":"MeSH; D015418.","definition":"An autosomal recessive neurologic disorder characterized by early- onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is 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. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive.","acronym":"CMT2RV.","accession":"DI-00263","synonyms":"Charcot-Marie-Tooth axonal type 4A.; Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive.; CMT2 with vocal cord paresis autosomal recessive.; ","cross_references":"MeSH; D002607.","definition":"A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is 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. ","keywords":"KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "},{"identifier":"Amyotrophic lateral sclerosis.","acronym":"ALS.","accession":"DI-00107","synonyms":"Charcot disease.; Lou Gehrig disease.; MND.; Motor neuron disease.; ","cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Myofibromatosis, infantile 1.","acronym":"IMF1.","accession":"DI-03815","synonyms":"CGF.; Congenital generalized fibromatosis.; Juvenile myofibromatosis.; ","cross_references":"MeSH; D018224.","definition":"A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ","keywords":null},{"identifier":"Granulomatous disease, chronic, autosomal recessive, 4.","acronym":"CGD4.","accession":"DI-00304","synonyms":"CGD due to deficiency of alpha subunit of cytochrome b.; Chronic granulomatous disease autosomal recessive cytochrome b-negative.; CYBA deficiency.; Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive.; ","cross_references":"MeSH; D006105.","definition":"A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ","keywords":"KW-0161:Chronic granulomatous disease.; "},{"identifier":"Granulomatous disease, chronic, autosomal recessive, 3.","acronym":"CGD3.","accession":"DI-03170","synonyms":"CGD autosomal recessive cytochrome b-positive type III.; Chronic granulomatous disease autosomal recessive cytochrome b-positive type III.; Granulomatous disease chronic due to NCF4 deficiency.; ","cross_references":"MeSH; D006105.","definition":"A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ","keywords":"KW-0161:Chronic granulomatous disease.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 9.","acronym":"PBD-CG9.","accession":"DI-00919","synonyms":"CG9.; PBD-CGD.; Peroxisome biogenesis disorder complementation group D.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 8.","acronym":"PBD-CG8.","accession":"DI-00918","synonyms":"CG8.; PBD-CGA.; Peroxisome biogenesis disorder complementation group A.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 7.","acronym":"PBD-CG7.","accession":"DI-00917","synonyms":"CG7.; PBD-CGB.; Peroxisome biogenesis disorder complementation group B.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 5.","acronym":"PBD-CG5.","accession":"DI-00916","synonyms":"CG5.; PBD-CG10.; PBD-CGF.; Peroxisome biogenesis disorder complementation group 10.; Peroxisome biogenesis disorder complementation group F.; Zellweger syndrome 3.; ZWS3.; ","cross_references":"MeSH; D015211.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 4.","acronym":"PBD-CG4.","accession":"DI-00915","synonyms":"CG4.; PBD-CG6.; PBD-CGC.; Peroxisome biogenesis disorder complementation group 6.; Peroxisome biogenesis disorder complementation group C.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 3.","acronym":"PBD-CG3.","accession":"DI-00914","synonyms":"CG3.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 1.","acronym":"PBD-CG1.","accession":"DI-00913","synonyms":"CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 2.","acronym":"PBD-CG2.","accession":"DI-03578","synonyms":"CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 14.","acronym":"PBD-CG14.","accession":"DI-00922","synonyms":"CG14.; PBD-CGJ.; Peroxisome biogenesis disorder complementation group J.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 13.","acronym":"PBD-CG13.","accession":"DI-02153","synonyms":"CG13.; PBD-CGH.; Peroxisome biogenesis disorder complementation group H.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 12.","acronym":"PBD-CG12.","accession":"DI-00921","synonyms":"CG12.; PBD-CGG.; Peroxisome biogenesis disorder complementation group G.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Peroxisome biogenesis disorder complementation group 11.","acronym":"PBD-CG11.","accession":"DI-00920","synonyms":"CG11.; PBD-CGR.; Peroxisome biogenesis disorder complementation group R.; ","cross_references":"MeSH; D018901.","definition":"A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ","keywords":"KW-0958:Peroxisome biogenesis disorder.; "},{"identifier":"Carey-Fineman-Ziter syndrome 1.","acronym":"CFZS1.","accession":"DI-05049","synonyms":"CFZ syndrome.; Congenital non-progressive myopathy with Moebius and Robin sequences.; Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence.; ","cross_references":"MeSH; D020331.","definition":"An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. ","keywords":null},{"identifier":"Craniofrontonasal syndrome.","acronym":"CFNS.","accession":"DI-01443","synonyms":"CFND.; Craniofrontonasal dysostosis.; Craniofrontonasal dysplasia.; ","cross_references":"MeSH; D019465.","definition":"X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. ","keywords":"KW-0989:Craniosynostosis.; "}]}