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MALATTIE RARE e FMF il portale di FMFPC
Il portale delle Malattie Rare e della FMF

AVVISO

Gennaio 2005

I nuovi elenchi con i links aggiornati, delle malattie rare il cui nome inizia con la lettera O,

si trovano nelle seguenti pagine del sito dell'Associazione Rete Malattie Rare:

(da *** a ***) - Elenco Malattie Rare e genetiche *Lettera *
(da *** a ***) - Elenco Malattie Rare e genetiche *Lettera *

 

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ultimi aggiornamenti

Elenco malattie rare e genetiche "lettera O"

© FMFPC è un sito ideato, realizzato ed aggiornato da un malato di FMF (Febbre Mediterranea Familiare)
© FMFPC is a site conceived, realized and updated by a patient of FMF (Familial Mediterranean Fever)


aggiornato 25 novembre, 2003

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A -B -C -D -E -F -G -H -I -J -K -L -M -N - O -P -Q -R -S -T -U -V -W -X -Y -Z-- Anomalie Cromosomiche

* Nome italiano[Sinonimi]•Nome inglese[Synonyms]•Nome francese[Synonymes]•Nome spagnolo[Sinónimos]•{n.indice OMIM}•<Vedi legenda

O
* O'Doherty Sindrome diO Doherty syndrome/Pigmentary disorter with hearing loss/Black locks with albinism and deafness syndrome/Bads syndromeO doherty syndrome[Albinisme cutane phenotype hermine]••{227010}
* O' Donnell Pappas Sindrome diO Donnell Pappas syndromeO donnell pappas syndrome d[Hypoplasie foveale cataracte pre senile]••{136520}
* Obrinsky sindrome[Sindrome di Frohlich con agenesia dei muscoli addominali e malformazioni genito-urinarie]•Obrinsky syndrome[prune belly syndrome (PBS)/Eagle-Barrett syndrome/Fröhlich syndrome/abdominal muscle deficiency anomalad/abdominal muscle deficiency syndrome/abdominal musculature aplasia syndrome/absence of abdominal muscle syndrome/aplastic abdominal muscle syndrome/defective abdominal wall syndrome]•••{100100-264140}
* Ochoa Sindrome di=>Vedi Urofacciale Sindrome
* Ocronosi ereditariaOchronosis, hereditaryOchronose héréditaireOcronosis[Ocronosis Alcaptonúrica/Alcaptonuria/Artritis Ocronótica/Acidura Homogentísica/Alcaptonuria Homogentísica Hereditaria/Oxidasa del Acido Homogentísico, Déficit de]•{203500}
* Oculo-auriculo-fronto-nasale SindromeOculoauriculofrontonasal syndromeOculo auriculo fronto nasal syndrome[Dysostose fronto facio nasale/Gollop syndrome de]••{229400}
* Oculo-cerebrale, displasia••Oculo cerebrale dysplasie[Behrens baumann dust syndrome de]••{}
* Oculo-cerebrale con ipopigmentazione Sindrome/Oculo-cerebrale, ipopigmentazione Sindrome, tipo Cross/Oculo-cerebrale ipopigmentazione Sindrome, tipo PreusOculocerebral syndrome with hypopigmentation/Oculocerebral hypopigmentation syndrome Cross type/Oculocerebral hypopigmentation syndrome type Preus/Oculocerebral Syndrome with Hypopigmentation[Cross Syndrome/Cross-McKusick-Breen Syndrome/Depigmentation-Gingival Fibromatosis-Microphthalmia/Kramer Syndrome]•••{}
* Oculo-cerebro-acrale SindromeOculo cerebro acral syndrome•••{}
* Oculo-cerebro-cutanea sindrome[Delleman Sindrome]•Oculocerebrocutaneous syndrome/oculo-cerebro-cutaneous (OCC) syndrome[Delleman syndrome/Delleman-Oorthuys Syndrome/Oculocerebrocutaneous Syndrome/Orbital Cyst with Cerebral and Focal Dermal Malformations/OCC Syndrome/OCCS]•••{164180}
* Oculo-cerebro-facciale tipo Kaufman Sindrome••Oculo cerebro facial syndrome type kaufman••{}
* Oculo-cerebro-ossea Sindromeoculocerebrofacial syndromeOculo cerebro osseux syndrome••{}
* Oculo-cerebro-renale Sindrome di[Sindrome di Lowe/Sindrome di Lowe-Bickel/Sindrome di Lowe-Terrey-Mac-Lachlan/OCR]•Lowe Syndrome/oculocerebrorenal (OCR) syndrome/oculocerebrorenal (OCR, OCRL) syndromeOculo-cérébro-rénal, syndrome[Syndrome de Lowe]/Lowe syndrome (LS)Oculo Cerebro Renal, Síndrome/Oculocerebrorrenal de Lowe, Síndrome[Síndrome de Lowe/Síndrome de Lowe Bickel/Síndrome de Lowe Terry MacLachlan/Enfermedad de Lowe]/Oculocerebrorenal syndrome•{309000}•M
* Oculo-cutaneo albinismo•Oculocutaneous albinism immunodeficiency/Oculocutaneous albinism type 1/Oculocutaneous albinism type 2/Oculocutaneous albinism type 3/Oculocutaneous albinism, tyrosinase negative/Oculocutaneous albinism, tyrosinase positive•••{}
* Oculo-dentale Sindrome, tipo RutherfurdOculodental syndrome Rutherfurd syndrome/oculodental syndromeOculo dentaire syndrome type rutherfurd••{}
* Oculo-dento-digitale, displasia, tipo dominante[ODDD]•Oculodentodigital dysplasia dominant/Oculo dento digital dysplasia/oculo-dento-digital (ODD) dysplasia (ODDD)/Oculo Dento Digital DysplasiaOculo dento digital dysplasie type dominant••{164200}
* Oculo-dento-digitale Sindrome•Oculodentodigital syndrome•••{}
* Oculo-dento-ossea, tipo dominante Displasia Oculodentoosseous dysplasia dominantOculo dento osseuse dysplasie type dominant••{}
* Oculo-dento-ossea tipo recessiva Displasia •Oculodentoosseous dysplasia recessive/oculo-dento-osseous dysplasia (ODOD)•••{257850}
* Oculo-digitale Sindrome••Oculo digital syndrome••{}
* Oculo-digito-esofago-duodenale-Sindrome•Oculodigitoesophagoduodenal syndrome•••{164280}
* Oculo-facio-cardio-dentale SindromeOculo facio cardio dental syndromeOculo facio cardio dentaire syndrome••{300166}
* Oculo-osteo-cutanea Sindrome••Oculo osteo cutane syndrome••{}
* Oculo-oto-radiale Sindrome••Oculo oto radial syndrome[Ivic syndrome d]••{147750}
* Oculo-palato-cerebrale, Nanismo••Oculo palato cerebral nanisme••{}
* Oculo-palato-scheletrica Sindrome•Oculopalatoskeletal syndrome/oculopalatoskeletal syndromeOculo palato squelettique syndrome••{}
* Oculo-palato-scheletrico SindromeOculorenocerebellar syndromeOculo reno cerebelleux syndrome••{}
* Oculo-reno-cerebellare Sindrome••••{}
* Oculo-scheletro-renale Sindrome[Oculo-scheletro-renale Sindrome]Oculo skeletal renal syndromeOculo squeletto renal syndrome••{}
* Oculo-trico-anale SindromeOculo tricho anal syndromeOculo tricho anal syndrome••{}
* Oculo-trico, displasiaOculo tricho dysplasiaOculo tricho dysplasie••{}
* Oculogenitolaringea Sindrome =>Opitz Sindrome di
* Odonto-onico-dermica Displasiaodontoonychodermal dysplasiaOdonto onycho dermique dysplasie••{}
* Odonto-onico, displasia con alopecia••Odonto onycho dysplasie avec alopecie••{}
* Oerter Friedman Anderson Sindrome diOdonto onycho dysplasia with alopeciaOerter friedman anderson syndrome de••{}
* OFD Sindrome tipo 8[Sindrome oro-facio-digitale tipo VIII]•OFD syndrome type 8/Oral-facial-digital syndrome with retinal abnormalities[OFD syndrome VIII/Orofaciodigital syndrom with retinal abnormaliti]Ofd syndrome type 8[Oro facio digital syndrome type 8]••{258865}
* OFD sindrome, tipo FigueraOFD syndrome type FigueraOfd syndrome type figuera[Oro facio digital syndrome type figuera]••{}
* Oftalmo-mandibolo-melica, Displasia••Ophtalmo mandibulo melique dysplasie[Pillay syndrome de]••{164900}
* Oftalmoplegia esterna progressiva•ophthalmoplegia, progressive external, with ragged-red fibers[ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy/oculocraniosomatic syndrome/ophthalmoplegia-plus syndrome/mitochondrial cytopathy//chronic progressive external ophthalmoplegia with myopathy/cpeo with myopathy/cpeo with ragged-red fibers/Kearns-Sayre Syndrome/KSS]•Ophtalmoplégie externe progressiveOftalmoplejia Externa Crónica Progresiva y Miopatía Mitocondrial Citopática, Tipo Kearn Sayre[Oftalmoplejia, Retinitis Pigmentaria y Cardiomiopatía]•{530000}
* Oftalmoplegia ipoacusia atassia=>Vedi OHAHA Sindrome
* Oftalmoplegia scoliosiOphthlmoplegia, progressive external, and scoliosis[Horizontal gaze, famial paralysis of]Ophthalmoplegie scoliose••{555000}
* Ogilvie Sindrome di•Ogilvie's syndrome•••{}
* OGUCHI SINDROME DI[Emeralopia]••••{258100}
* Ohaha Sindrome di/Oftalmoplegia ipoacusia atassiaOhaha syndrome/Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis,and Athetosis[OHAHA Syndrome]Ohaha syndrome de[Ophthalmoplegie hypoacousie ataxie]••{258120}
* Ohdo Madokoro Sonoda Sindrome di[Blefarofimosi tipo Ohdo Sindrome]•Ohdo Madokoro Sonoda syndrome/Ohdo blepharophimosis syndrome[Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth]Ohdo madokoro sonoda syndrome d[Blepharophimosis syndrome ohdo type]••{249620}
* Okamoto Satomura Sindrome diOkamuto Satomura syndromeOkamoto satomura syndrome de••{}
* Oldfield Sindrome di•••Oldfield, Síndrome de[Tumor Oseo, Quiste Epidermoide y Poliposis/Poliposis Intestinal, Tipo III/Poliposis Adenomatosa Familiar con Manifestaciones Extraintestinales/Poliposis de Gardner/Poliposis, Osteomatosis y Quiste Epidermoide, Síndrome de/Gardner, Síndrome de]•{175100}
* Oligodattilia postassiale tetramelicaOligodactyly tetramelic postaxialOligodactylie postaxiale tetramelique••{}
* Oligodonzia taurodonzia capelli rari••Oligodontie taurodontie cheveux rares••{}
* Oliver Sindrome diOliver syndromeOliver syndrome d[Polydactylie postaxiale retard mental]••{258200}
* Olivo-ponto-cerebellare, atrofia, sorditàOlivopontocerebellar atrophy/Olivopontocerebellar atrophy deafness/Olivopontocerebellar atrophy type 1/Olivopontocerebellar atrophy type 2/Olivopontocerebellar atrophy type 3/Olivopontocerebellar AtrophyOlivo ponto cerebelleuse atrophie surdite••{}
* Oliver MacFarlane Sindrome diOliver McFarlane syndromeOliver macfarlane syndrome de••{}
* Ollier Malattia di, Sindrome di[Discondroplasia/Displasia condromatosa delle ossa/osteocondromatosi multipla/Encondromatosi/Encondromi multipli/Emicondrodisplasia/Encondrosi]•Ollier disease/Ollier DiseaseOllier, maladie d'••{}•S
* Ollier-Klippel-Trenaunay-Weber Sindrome •Ollier-Klippel-Trénaunay-Weber syndrome•••{}
* Olmsted Sindrome diOlmsted syndromeOlmsted syndrome d'••{}
* OLOPROSENCEFALIA(//)
/Oloprosencefalia
/Oloprosencefalia anomalie radiali cardiache renali
/Oloprosencefalia craniosinostosi
/Oloprosencefalia delezione 2p
/Oloprosencefalia disgenesia caudale
/Oloprosencefalia ectrodattilia schisi labio-palatina
/Oloprosencefalia polidattilia postassiale
Holoprosencephaly
Holoprosencéphalie
Holoprosencephalie anomalies radiales cardiaques renales
Holoprosencephalie craniosynostose
Holoprosencephalie deletion 2p
Holoprosencephalie dysgenesie caudale
Holoprosencephalie ectrodactylie fente labiopalatine
Holoprosencephalie polydactylie post axiale
••{236100}
* OMOCISTINURIA(//)
/Omocistinuria classica da deficit di cistationina beta-sintasi
/Omocistinuria da difetti della remetilazione (cbl g)
/Omocistinuria da difetto di rimetilazione, deficit di MTHFR
/Omocistinuria da disturbi della rimetilazione (cbl e)
Homocystinuria
Homocystinurie classique par déficit en cystathionine bêta-synthase
Homocystinurie par troubles de la remethylation (cbl e)
Homocystinurie par troubles de la remethylation (cbl g)
Homocystinurie par troubles de la reméthylation, déficit en MTHFR
••{236270}•D
* Onat Sindrome diOnat syndrome/Onat syndromeOnat syndrome de••{}
* OncocercosiOnchocerciasisOnchocercose••{-}
* Ondine Sindrome [Ipoventilazione alveolare centrale congenita/Sindrome di Ondina/Maledizione di Ondina]=> Vedi Ipoventilazione alveolare centrale congenita
* Onfalocele/Onfalocele estrofia imperforazione anale/Onfalocele-macroglossia-gigantismo/Onfalocele schisi labio-palatina••••{}
* ONICOOSTEODISPLASIA EREDITARIA/Onicoosteodisplasia[Osteo-Onico-Displasia Ereditaria]••Onychoosteodysplasie••{161200}
* Onico-trico Displasia, leucopenia••Onycho tricho dysplasie leucopenie••{}
* OOCHS Sindrome••Oochs syndrome[Osteoporose hypopigmentation oculo cutanee/Hernandez fragoso syndrome de]••{601220}
* OPITZ SINDROME DI/Opitz-Frias Sindrome di[BBB/G/Sindrome oculogenitolaringea/Sindrome ipertelorismo-ipospadia]•Opitz Syndrome/Opitz syndrome (OS)/oculo-genito-laryngeal syndrome/Opitz-Frias syndrome[G Syndrome/ BBBG Syndrome]Opitz G/BBB SyndromeOpitz-Frias, syndrome d'[G syndrome/Hypospadias-dysphagie, syndrome]Opitz, Síndrome de[Opitz Frías, Síndrome de]•{145410}
* Opitz Sindrome di, legata all'X••Opitz syndrome lie a l'x••{}
* Opitz Kaveggia Sindrome di•Opitz-Kaveggia syndrome••Opitz Kaveggia, Síndrome de•{}
* Opitz Mollica Sorge Sindrome diOpitz Mollica Sorge syndromeOpitz mollica sorge syndrome de••{}
* Opitz Reynolds Fitzgerald Sindrome diOpitz Reynolds Fitzgerald syndromeOpitz reynolds fitzgerald syndrome de[Mandibulo faciale dysostose surdite polydactylie postaxiale]••{}
* Opitz trigonocefalia Sindrome di[Trigonocefalia di Opitz/Sindrome C]•Opitz trigonocephaly syndrome/Trigonocephaly syndrome/C syndrome] •Opitz trigonocephalie syndrome[C syndrome]••{211750}
* Orbeli Sindrome•Orbeli syndrome[chromosome 13q deletion syndrome/13q- syndrome/13q deletion syndrome/chromosome 13q monosomy/del(13q) syndrome/deletion 13q syndrome/monosomy 13q/partial monosomy 13q][Monosomie 13q ]Deletion 13qCromosoma 13, Monosomía Parcial 13q•{}
* Ormond Malattia di=>Vedi FIBROSI RETROPERITONEALE
* Ormone della crescita Deficienza dell'••Growth Hormone Deficiency••{}•A
* Ornitina carbamil trasferasi, deficit di/Ornitina Transcarbamilasi Deficit di[Difetto di Ornitina Carbamilasi]•Ornithine transcarbamylase deficiency, hyperammonemia due to/Ornithine carbamoyl phosphate deficiency/Ornithine Transcarbamylase DeficiencyOrnithine carbamyl Ornithine Transcarbamylase transférase, déficit enOrnitín Carbamil Transferasa, Déficit de[Ornitín Transcarbamilasa, Déficit de]•{311250}•D
* Ornitina amino-trasferasi, deficit diOrnithine aminotransferase deficiencyOrnithine amino-transférase, déficit en••{}
* Oro-cranio-digitale SindromeOrocraniodigital Syndrome[Cleft lip-palate with abnormal thumbs and microcephaly/Orocraniodigital syndrome/Juberg-Hayward syndrome]•Oro cranio digital syndrome[Juberg hayward syndrome de/Fente labio palatine pouces anomalie microcephalie]••{216100}
* Oro-facio-digitale Sindrome[Sindromi OFD](//)
/Oro-facio-digitale Sindrome tipo 1
/Oro-facio-digitale Sindrome tipo 2
/Oro-facio-digitale Sindrome tipo 3
/Oro-facio-digitale Sindrome tipo 4
/Oro-facio-digitale Sindrome tipo 6
/Oro-facio-digitale sindrome tipo 8
/Oro-facio-digitale sindrome tipo Figuera
/Oro-facio-digitale sindrome tipo Gabrielli
/Oro-facio-digitale sindrome tipo Shashi
Oral facial digital syndrome
Oral facial digital syndrome type 3
Oral facial digital syndrome type 4
Orofaciodigital syndrome Gabrielli type
Orofaciodigital syndrome Shashi type
Orofaciodigital syndrome Thurston type
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type1
/Oral Facial Digital Syndrome
oral-facial-digital (OFD) syndrome with retinal abnormalities
orofaciodigital syndrome with tibial dysplasia
oral-facial-digital syndrome I
oral-facial-digital syndrome II
oral-facial-digital syndrome III
oral-facial-digital syndrome IV
oral-facial-digital syndrome IX
oral-facial-digital syndrome VI
oral-facial-digital syndrome VII
oral-facial-digital syndrome VIII
orofaciodigital (OFD) syndrome I
orofaciodigital (OFD) syndrome II
orofaciodigital (OFD) syndrome III
orofaciodigital (OFD) syndrome IV
orofaciodigital (OFD) syndrome IX
orofaciodigital (OFD) syndrome VI
orofaciodigital (OFD) syndrome VII
orofaciodigital (OFD) syndrome VIII
Oral facial digital syndrome
Oro facio digital syndrome type 1
Oro facio digital syndrome type 2[Syndrome de Mohr]
Oro facio digital syndrome type 3
Oro facio digital syndrome type 4
Oro facio digital syndrome type 6[Syndrome Varadi Papp]
Oro facio digital syndrome type 8[Vedi Ofd syndrome type 8]
Oro facio digital syndrome type figuera[Ofd syndrome type figuera]
Oro facio digital syndrome type gabrielli
Oro facio digital syndrome type shashi
••{OFD1 *311200-OFD4 258860}
* Oro-facciale sindrome tipo Thurston••Orofacial syndrome type thurston••{}
* Orofaringe imperforazione anomalie costo-vertebrali••Oropharynx imperforation anomalies costo vertebrales••{}
* Oroticaciduria/Orotico acidurica Anemia•Orotic aciduria hereditary/Orotic aciduria purines-pyrimidinesOroticacidurie••{}
* Orticaria pigmentata/Orticaria Pigmentosa•Urticaria PigmentosaUrticaire pigmentaire••{}
* Orticaria (//)
/Orticaria-sordità nefropatia amiloide
Urticaria, Cholinergic
Urticaria, Cold
Urticaria, Papular
Urticaria, Physical
Urticaire-surdité-amylose rénale
••{}
* Osebold Remondini Sindrome di[Brachidattilia tipo a6]•Osebold Remondini syndromeOsebold remondini syndrome de[Brachymesophalangie membres courts mesomeliques os anomalies/Brachydactylie type a6]••{112910}
* Oslam Sindrome diOslam syndromeOslam syndrome de••{}
* Osgood Schlatter Malattia di[Osteocondrosi della tuberosità anteriore della tibia/Sindrome di Lannelongue-Osgood-Schlatter/Osteite ipofisaria della crescita/Apofisite tibiale anteriore/Apophisitis tibialis adolescentium]•Osgood Schlatter's Disease/rugby knee•••{}
* OssalosiOxalosisOxalose••{}
* Ossificazione ectopica familiare••Ossification ectopique familiale••{}
* Osteo-cranio-stenosi••Osteo cranio stenose••{}
* Osteo-ectasia familiare/Osteoectasia familiare••Osteo ectasie familiale••{}
* Osteoartropatia delle dita familiareOsteoarthropathy of fingers familialOsteoarthropathie des doigts familiale••{}
* Osteoatropatia idiopatica infantile familiare/Osteo-artropatia ipertrofica primitiva o idiopaticaFamililial Idiopathic Osteorthropathy of ChildhoodOstéo-arthropathie hypertrophique primaire ou idiopathique••{}
* Osteocondrite deformanteOsteochondritis deformans juvenile/osteochondrodystrophia deformansOstéochondrite déformante••{}
* Osteocondrite dissecanteOsteochondritis dissecansOsteochondrite dissequante••{}
* Osteocondrosi deformante della tibia••Osteochondrose deformante du tibia••{}
* Osteocondrodisplasia ipertricosi••Osteochondrodysplasie hypertrichose••{}
* Osteocondrodisplasia trombocitopenia idrocefaloOsteochondrodysplasia thrombocytopenia hydrocephalusOsteochondrodysplasie thrombocytopenie hydrocephalie••{}
* Osteocondromatosi carpo-tarsiale••Osteochondromatose carpotarsienne••{}
* Osteodisplasia familiare tipo AndersonOsteodysplasia familial Anderson typeOsteodysplasie familiale type anderson••{}
* Osteodisplasia policistica demenza••Osteodysplasie polykystique demence••{}
* Osteodistrofia ereditaria di AlbrightPseudoipoparatiroidismo[PHP/Acrodisostosi]••Ostéodystrophie héréditaire d'Albright••{}
* OSTEODISTROFIE CONGENITE•••Osteodistrofia con Retraso Mental, Tipo Rubalcava•{}
* OSTEOGENESI IMPERFETTA/Osteogenesi imperfetta/Osteogenesi imperfetta microcefalia cataratta/Osteogenesi imperfetta retinopatia/[Osteopsatirosi idiopatica/Osteogenesi imperfecta congenita e tardiva/Malattia di Lobstein/Malattia di Vrolik/Sindrome di Adair-Dighton/Sindrome di Van der Hoeve/Sindrome delle sclere blu/Sindrome di Eddowes/Displasia periostale/ Sindrome di Porak/ Sindrome di Porak-Durante/ Malattia di Looser/Malattia degli uomini di vetro/Malattia di Apert]/Osteogenesi imperfetta/Osteoogenesi ImperfettaOsteogenesis imperfecta congenita microcephaly and cataracts/Osteogenesis imperfecta congenital joint contractures/Osteogenesis imperfecta retinopathy/Osteogenesis ImperfectaOstéogénèse imparfaite[Maladie de Lobstein]/Osteogenese imparfaite microcephalie cataracte/Osteogenese imparfaite retinopathie••{}•S
* Osteolisi anomalie facciali nefropatia••Osteolyse anomalies faciales nephropathie••{}
* Osteolisi carpo-tarsale recessiva••Osteolyse carpo tarsienne recessive••{}
* Osteolisi distale bassa statura ritardo mentaleOsteolysis syndrome, recessive[Osteolysis, distal, with short stature, mental retardation, and charactreristic facial appearenceOsteolyse distale petite taille retard mental[Petit fryns syndrome de]••{259610}
* Osteolisi massiva••Ostéolyse massiveOsteolisis Progresiva Masiva[Osteolisis Masiva/Osteolisis Masiva Idiopática/Osteolisis Masiva de Gorham]•{}
* Osteolisi multicentricaOsteolysis hereditary multicentricOsteolyse multicentrique••{}
* Osteomesopicnosi••Osteomesopycnose••{}
* Osteomielite/Osteomielite multifocale cronica recidivante del bambinoosteomyelitis/OsteomyelitisOsteomyelite multifocale chronique recidivante de l'enfant••{}
* Osteonecrosi•Osteonecrosis/Osteonecrosis•••{}
* Osteopatia striata sclerosi cranica/Osteopatia striata iperpigmentazione ciocche biancheosteopathia striata with cranial sclerosis/Osteopathia striata pigmentary dermopathy white forelock•••{166500}
* OSTEOPETROSI(//)
/Osteopetrosi acidosi renale tubulare
/Osteopetrosi autosomica dominante
/Osteopetrosi da deficit di anidrasi carbonica di tipo II
/Osteopetrosi dominante di tipo 1
/Osteopetrosi letale
/Osteopetrosi recessiva maligna
/Osteopetrosi (termine generico)
Osteopetrosis autosomal dominant type 1
Osteopetrosis lethal
Osteopetrosis renal tubular acidosis
Osteopetrosis, (generic term)
Osteopetrosis, malignant
Osteopetrosis, mild autosomal recessive form
/Osteopetrosis
Osteopetrose lethale
Ostéopétrose acidose rénale tubulaire
Ostéopétrose autosomique dominante type 2
Ostéopétrose dominante de type 1
Ostéopétrose récessive maligne
Ostéopétroses (terme générique)
Osteopétrose par déficit en anhydrase carbonique de type II
Osteopetrosis
•{}
* OsteopoichilosiOsteopoikilosisOsteopoikilose••{}
* Osteoporosi ipopigmentazione oculo-cutaneaOsteoporosis oculocutaneous hypopigmentation syndromeOsteoporose hypopigmentation oculo cutanee••{}
* Osteoporosi macrocefalia cecità iperlassità••••{}
* Osteoporosi pseudoglioma SindromeOsteoporosis pseudoglioma syndrome/osteoporosis-pseudoglioma syndrome (OPS)Osteoporose pseudogliome syndrome••{}
* Osteosarcoma/Osteosarcoma anomalie degli arti macrocitosi eritrocitariaOsteosarcoma limb anomalies erythroid macrocytosisOstéosarcome/Osteosarcome anomalies des membres macrocytose erythroide••{}
* Osteosclerosi assiale••••{}
* Osteosclerosi tipo StanescuOsteosclerose type StanescuOsteosclerose type stanescu••{}
* Osteosclerosi tipo Worth autosomica dominante•Osteosclerosis autosomal dominant Worth typeOsteosclerose type worth autosomique dominante••{}
* Ostravik Lindemann Solberg Sindrome diOrstavik Lindemann Solberg syndromeOstravik lindemann solberg syndrome••{}
* Oto-dentale, displasiaOtodental dysplasiaOto dentaire dysplasie••{}
* Oto mandibolare facciale Dismorfogenesi •otomandibular facial dysmorphogenesis[Franceschetti-Goldenhar syndrome/Goldenhar syndrome (GS)/Goldenhar sequence/Goldenhar-Gorlin syndrome/auriculobranchiogenital dysplasia/dysplasia oculo-auricularis/facio-auriculovertebral anomalad/facio-auriculovertebral (FAV) sequence/facio-auriculovertebral malformation complex/first arch syndrome/first and second branchial arch syndrome/hemifacial microsomia (HM)/hemignathia and microtia syndrome/intrauterine facial necrosis/lateral facial dysplasia (LFD)/mandibulofacial dysostosis with/epibulbar dermoids syndrome/necrotic facial dysplasia/oculo-auriculovertebral spectrum (OAVS)/oromandibulo-auricular syndrome/oromandibulo-otic syndrome/otofacial dysostosis/otomandibular dysostosis/otomandibular facial dysmorphogenesis/otomandibular syndrome/unilateral craniofacial microsomia/unilateral intrauterine facial necrosis/unilateral mandibulofacial dysostosis]•••{164210}
* Oto-facio-cervicale SindromeOtofaciocervical syndromeOto facio cervical syndrome••{}
* Oto-onico-peroneale SindromeOtoonychoperoneal syndromeOto onycho peroneal syndrome••{}
* Oto-palato-digitale Sindrome/Oto Palato Digitale Sindrome tipo I e tipo II[Sindrome di Taybi]•Oto palato digital syndrome type I and II/Oto-Palatal-digital syndrome/Otopalatodigital syndrome type 2/Oto Palato Digital Syndrome Type I and II/otopalatodigital (OPD) syndrome I/otopalatodigital (OPD) syndrome IITaybi, syndrome de••{}
* Otospongiosi, forma familiare••Otospongiose, forme familiale••{166800}
* Ottica, atrofia, polineuropatia Sordità••Optique atrophie polyneuropathie surdite[Rosenberg chutorian syndrome de]••{311070}
* Ouvrier Billson Sindrome diOuvrier Billson syndromeOuvrier billson syndrome de[Ataxie deviation superieure des yeux ]••{168885}
* Ovaio policistico disfunzione dello sfintere uretrale••Ovaires polykystiques sphincter urethral dysfonctionnement••{}
* Ovaio policistico Malattia familiare••Ovaires polykystiques, maladie familiale[Stein-leventhal syndrome de]••{184700}


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