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Disease	Synonyms	Description	Articles
Charcot-Marie-Tooth disease type 1B	peroneal muscular atrophy; autosomal dominant Char.. [+] peroneal muscular atrophy; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]	1 articles
cataract 32 multiple types	posterior polar cataract 5; CTAA1; CTPP5; CTRCT32; .. [+] posterior polar cataract 5; CTAA1; CTPP5; CTRCT32; anterior polar cataract 1 [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 14q22-q23. [-]
cataract 6 multiple types	posterior polar cataract 1; age related cortical c.. [+] posterior polar cataract 1; age related cortical cataract 2; ARCC2; CTPP1; CTRCT6 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. [-]
cataract 11 multiple types	posterior polar cataract 4; CPP4; CTPP4; CTRCT11	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. [-]
cataract 16 multiple types	posterior polar cataract 2; CTRCT16; CTPP2	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. [-]
cataract 31 multiple types	posterior polar cataract 3; CTPP3; CTRCT31; CPP3	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. [-]
autosomal recessive limb-girdle muscular dystrophy type 2A	pelvofemoral muscular dystrophy; primary calpainop.. [+] pelvofemoral muscular dystrophy; primary calpainopathy; Leyden-Moebius muscular dystrophy; limb-girdle muscular dystrophy due to calpain deficiency; muscular dystrophy, limb-girdle, type 2A; LGMD2A [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. [-]
autosomal recessive limb-girdle muscular dystrophy type 2D	primary adhalinopathy; Alpha-sarcoglycanopathy; Du.. [+] primary adhalinopathy; Alpha-sarcoglycanopathy; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; muscular dystrophy, limb-girdle, type 2D; DMDA2 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	proximal muscular dystrophy type 1B; LGMD1B; muscu.. [+] proximal muscular dystrophy type 1B; LGMD1B; muscular dystrophy, limb-girdle type 1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). [-]
osteogenesis imperfecta type 3	progressively deforming osteogenesis imperfecta wi.. [+] progressively deforming osteogenesis imperfecta with normal sclera; osteogenesis imperfecta type III; OI3 [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
osteogenesis imperfecta type 2	perinatal lethal osteogenesis imperfecta congenita.. [+] perinatal lethal osteogenesis imperfecta congenita; OI2; osteogenesis imperfecta type II; Vrolik type of osteogenesis imperfecta [-]	An osteogenesis imperfecta that is characterized b..[+] An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [-]
Stromme syndrome	primary ciliary dyskinesia 31; CILD31; jejunal atr.. [+] primary ciliary dyskinesia 31; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; apple peel syndrome with microcephaly and ocular anomalies [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	progressive epilepsy-intellectual disability syndr.. [+] progressive epilepsy-intellectual disability syndrome, Finnish type; progressive epilepsy with mental retardation, northern epilepsy; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; EPMR [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. [-]
xeroderma pigmentosum variant type	photosensitivity with defective DNA synthesis; xer.. [+] photosensitivity with defective DNA synthesis; xeroderma pigmentosum with normal DNA repair rates; XPV [-]	A xeroderma pigmentosum characterized by normal DN..[+] A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. [-]
rhizomelic chondrodysplasia punctata type 1	Peroxisome Biogenesis Disorder 9; Pbd9; Rcdp1	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. [-]
rhizomelic chondrodysplasia punctata type 2	Peroxisomal Dihydroxyacetonephosphate Acyltransfer.. [+] Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Dihydroxyacetonephosphate Acyltransferase Deficiency; Rcdp2 [-]	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. [-]
autosomal recessive polycystic kidney disease	Polycystic Kidney and Hepatic Disease 1; Polycysti.. [+] Polycystic Kidney and Hepatic Disease 1; Polycystic Kidney Disease, Infantile, Type I; Pkhd1; Arpkd [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. [-]
holoprosencephaly 9	pituitary anomalies with holoprosencephaly-like fe.. [+] pituitary anomalies with holoprosencephaly-like features; HPE9; holoprosencephaly with microphthalmia and first branchial arch anomalies [-]	A holoprosencephaly that has_material_basis_in het..[+] A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. [-]	1 articles
infantile hypophosphatasia	phosphoethanolaminuria; Hops	A hypophosphatasia that has_material_basis_in homo..[+] A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. [-]
brachydactyly-preaxial hallux varus syndrome	preaxial brachydactyly with hallux varus and thumb.. [+] preaxial brachydactyly with hallux varus and thumb abduction; Christian brachydactyly [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
Ballard syndrome	Pitt-Williams brachydactyly; Ballard type brachyda.. [+] Pitt-Williams brachydactyly; Ballard type brachydactyly; brachydactyly types B and E combined [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. [-]
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	psychomotor retardation due to S-adenosylhomocyste.. [+] psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency; hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. [-]
gray platelet syndrome	platelet alpha-granule deficiency; platelet-type b.. [+] platelet alpha-granule deficiency; platelet-type bleeding disorder 4; BDPLT4; GPS [-]	A blood platelet disease characterized by selectiv..[+] A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. [-]
Quebec platelet disorder	platelet-type bleeding disorder 5; BDPLT5; factor .. [+] platelet-type bleeding disorder 5; BDPLT5; factor V Quebec [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
Scott syndrome	prothrombin consumption deficiency; platelet-type .. [+] prothrombin consumption deficiency; platelet-type bleeding disorder 7; familial prothrombin consumption inhibitor; SCTS; bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7; familial prothrombin conversion defect [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
hyperphosphatemic familial tumoral calcinosis	primary hyperphosphatemic tumoral calcinosis; PHPT.. [+] primary hyperphosphatemic tumoral calcinosis; PHPTC; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; morbus Teutschlaender; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
multicentric Castleman disease	PMCD; plasmablastic multicentric Castleman disease.. [+] PMCD; plasmablastic multicentric Castleman disease; multicentric giant lymph node hyperplasia; MCD [-]	A Castleman disease characterized by systemic infl..[+] A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. [-]
Dyggve-Melchior-Clausen disease	pseudo-Morquio disease type I; DMC disease	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. [-]
myofibrillar myopathy 9	proximal myopathy with early respiratory muscle in.. [+] proximal myopathy with early respiratory muscle involvement; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; Hereditary inclusion body myopathy with early respiratory failure; hereditary myopathy with early respiratory failure; HIBM-ERF; HMERF; MFM-titinopathy; MFM9; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
Sveinsson chorioretinal atrophy	peripapillary chorioretinal degeneration, Icelandi.. [+] peripapillary chorioretinal degeneration, Icelandic type; atrophia areata; helicoid peripapillary chorioretinal degeneration; HPCD; SCRA [-]	An eye disease characterized by presence in the fu..[+] An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. [-]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	parkinsonism-dementia-ALS complex; PDALS; Guam dis.. [+] PDALS; parkinsonism-dementia-ALS complex; Guam disease; Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam; ALS-PDC; Lytico-Bodig disease [-]	A neurodegenerative disease characterized by chron..[+] A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. [-]
neurofibromatosis 1	Peripheral Neurofibromatosis; familial spinal neur.. [+] Peripheral Neurofibromatosis; familial spinal neurofibromatosis; neurofibromatosis type I; von Recklinghausen Disease; FSNF; NF1; Recklinghausen's neurofibromatosis [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]	1 articles
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	postnatal progressive microcephaly, seizures, and .. [+] postnatal progressive microcephaly, seizures, and brain atrophy [-]	A brain disease characterized by cerebral and cere..[+] A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. [-]
Ruijs-Aalfs syndrome	progeroid features-hepatocellular carcinoma predis.. [+] progeroid features-hepatocellular carcinoma predisposition syndrome [-]	A syndrome characterized by genomic instability an..[+] A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. [-]
histiocytosis-lymphadenopathy plus syndrome	pigmented hypertrichosis with insulin-dependent di.. [+] pigmented hypertrichosis with insulin-dependent diabetes mellitus; PHID; Faisalabad histiocytosis; familial Rosai-Dorfman disease; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; SHML; sinus histiocytosis and massive lymphadenopathy; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Rosai–Dorfman disease [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
combined saposin deficiency	PSAPD; combined SAP deficiency; encephalopathy due.. [+] PSAPD; combined SAP deficiency; encephalopathy due to prosaposin deficiency [-]	A sphingolipidosis characterized by absence of exp..[+] A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. [-]
myopathy with extrapyramidal signs	proximal myopathy with extrapyramidal signs; MPXPS.. [+] proximal myopathy with extrapyramidal signs; MPXPS [-]	A myopathy characterized by early childhood onset ..[+] A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. [-]
Vohwinkel syndrome	PPK mutilans and deafness; congenital deafness wit.. [+] PPK mutilans and deafness; congenital deafness with keratopachydermia and constrictions fo fingers and toes; keratoderma hereditarium mutilans; KHM; mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness; VOWNKL [-]	A syndrome characterized by severe, honeycomb-patt..[+] A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
Beukes hip dysplasia	Premature degenerative osteoarthropathy of the hip.. [+] Premature degenerative osteoarthropathy of the hip; Beukes type hip dysplasia; BFHD; Cilliers-Beighton syndrome; Beukes familial hip dysplasia [-]	An osteoarthritis characterized by bilateral dysmo..[+] An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. [-]
selective pituitary thyroid hormone resistance	pituitary resistance to thyroid hormone; PRTH; fam.. [+] PRTH; pituitary resistance to thyroid hormone; familial hyperthyroidism due to inappropriate thyrotropin secretion; selective pituitary resistance to thyroid hormone [-]	A hyperthyroidism characterized by mild to moderat..[+] A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. [-]
fetal akinesia deformation sequence syndrome	Pena-Shokeir syndrome type 1; arthrogryposis multi.. [+] Pena-Shokeir syndrome type 1; arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; fetal akinesia sequence; foetal akinesia deformation sequence syndrome; foetal akinesia sequence [-]	A syndrome characterized by decreased fetal moveme..[+] A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. [-]
ischiocoxopodopatellar syndrome	patella aplasia, coxa vara, and tarsal synostosis; .. [+] patella aplasia, coxa vara, and tarsal synostosis; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; small patella syndrome; SPS; ischiopatellar dysplasia; Scott-Taor syndrome [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
trichohepatoenteric syndrome	phenotypic diarrhea; SD/THE; syndromic diarrhea; T.. [+] phenotypic diarrhea; SD/THE; syndromic diarrhea; THES; Tricho-hepato-enteric syndrome; Syndromic diarrhea/Tricho-hepato-enteric syndrome [-]	A syndrome characterized by intractable diarrhea, ..[+] A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. [-]
Torrance type platyspondylic dysplasia	PLSD-T; PLSDT; platyspondylic lethal skeletal dysp.. [+] PLSDT; PLSD-T; platyspondylic lethal skeletal dysplasia, Torrance type; platyspondylic dysplasia, Torrance-Luton type; lethal short-limbed platyspondylic dwarfism, Torrance type; thanatophoric dysplasia, Torrance variant [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	PEOB2; adult-onset chronic progressive external op.. [+] PEOB2; adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; adult-onset CPEO with mitochondrial myopathy; autosomal recessive progressive external ophthalmoplegia 2 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. [-]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4	PEOB4; adult-onset multiple mitochondrial DNA dele.. [+] PEOB4; adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; autosomal recessive progressive external ophthalmoplegia 4 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	PEOA2; autosomal dominant progressive external oph.. [+] PEOA2; autosomal dominant progressive external ophthalmoplegia 2 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	PEOA5; autosomal dominant progressive external oph.. [+] PEOA5; autosomal dominant progressive external ophthalmoplegia 5 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	PEOA6; autosomal dominant progressive external oph.. [+] PEOA6; autosomal dominant progressive external ophthalmoplegia 6; DNA2-related mitochondrial DNA deletion syndrome; mitochondrial DNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mtDNA deletion syndrome with progressive myopathy [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	PEOA3; autosomal dominant progressive external oph.. [+] PEOA3; autosomal dominant progressive external ophthalmoplegia 3 [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. [-]

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