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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 X,

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 X"

© 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 >

X
* X:autosoma Traslocazione•X;autosome translocation[chromosome X;autosome translocation syndrome]••{}
* X-linked [Patologie legate al cromosoma X]•X-linked alpha-thalassemia/mental retardation syndrome [ATRX]
X-linked aqueductal stenosis [XLAS]
X-linked cataract with hutchinsonian teeth
X-linked cataract-dental syndrome
X-linked centronuclear myopathy
X-linked cerebellar ataxia [CLA]
X-linked cerebellar hypoplasia/hydrocephalus
X-linked congenital cataracts-microcornea syndrome
X-linked congenital glycerol kinase deficiency
X-linked congenital recessive muscle hypotrophy with central nuclei
X-linked copper malabsorption
X-linked dilated cardiomyopathy [XLCM]
X-linked dysplasia-gigantism syndrome [DGSX]
X-linked Hurler syndrome
X-linked hydrocephalus
X-linked hydrocephalus-stenosis of aqueduct of Sylvius sequence
X-linked infantile spasms
X linked Juvenile Retinoschisis
X linked Lymphoproliferative Syndrome
X-linked mental deficiency-megalotestes syndrome
X-linked mental handicap-retinitis pigmentosa syndrome
X-linked Mental Retardation 1 [MRX1, XLMR1]
X-linked Mental Retardation 2 [MRX2, XLMR2]
X-linked mental retardation 3 [MRX3, XLMR3]
X-linked mental retardation 4 [MRX4, XLMR4]
X-linked mental retardation 5 [MRX5, XLMR5]
X-linked mental retardation 6 [MRX6, XLMR6]
X-linked mental retardation 7 [MRX7, XLMR7]
X-linked mental retardation 8 [MRX8, XLMR8]
X-linked mental retardation 10 [MRX10, XLMR10]
X-linked mental retardation 11 [MRX11, XLMR11]
X-linked mental retardation 12 [MRX12, XLMR12]
X-linked mental retardation 13 [MRX13, XLMR13]
X-linked mental retardation 14 [MRX14, XLMR14]
X-linked mental retardation 15 [MRX15, XLMR15]
X-linked mental retardation 16 [MRX16, XLMR16]
X-linked mental retardation 17 [MRX17, XLMR17]
X-linked mental retardation 18 [MRX18, XLMR18]
X-linked mental retardation 19 [MRX19, XLMR19]
X-linked mental retardation 20 [MRX20, XLMR20]
X-linked mental retardation 21 [MRX21, XLMR21]
X-linked mental retardation 22 [MRX22, XLMR22]
X-linked mental retardation 23 [MRX23, XLMR23]
X-linked mental retardation 24 [MRX24, XLMR24]
X-linked mental retardation 25 [MRX25, XLMR25]
X-linked mental retardation 26 [MRX26, XLMR26]
X-linked mental retardation 27 [MRX27, XLMR27]
X-linked mental retardation 28 [MRX28. XLMR28]
X-linked mental retardation 29 [MRX29, XLMR29]
X-linked mental retardation 30 [MRX30, XLMR30/Nonsyndromic mental retardation with microcephaly, restlessness, and hyperactivity]
X-linked mental retardation 31 [MRX31, XLMR31]
X-linked mental retardation 32 [MRX32, XLMR32]
X-linked mental retardation 33 [MRX33, XLMR33]
X-linked mental retardation 34 [MRX34. XLMR34]
X-linked mental retardation 35 [MRX35, XLMR35]
X-linked mental retardation 36 [MRX36, XLMR36]
X-linked mental retardation 37 [MRX37, XLMR37]
X-linked mental retardation 38 [MRX38, XLMR38]
X-linked mental retardation 39 [MRX39, XLMR39]
X-linked mental retardation 41 [MRX41, XLMR41]
X-linked mental retardation 47 [MRX 47, XLMR 47]
X-linked mental retardation syndrome 1 [MRXS1]
X-linked mental retardation syndrome 2 [MRXS2]
X-linked mental retardation syndrome 3 [MRXS3]
X-linked mental retardation syndrome 4 [MRXS4]
X-linked mental retardation syndrome 5 [MRXS5]
X-linked mental retardation syndrome 6 [MRXS6]
X-linked mental retardation with fragile X syndrome
X-linked mental retardation-aphasia syndrome [MRXA]
X-linked mental retardation-bilateral clasp thumb anomaly
X-linked mental retardation-blindness-deafness-multiple congenital anomalies syndrome
X-linked mental retardation-fragile site 1 syndrome [FRAXE 1]
X-linked mental retardation-fragile site syndrome 2 [FRAXE2]
X-linked mental retardation-growth
X-linked mental retardation-growth hormone deficiency syndrome
X-linked mental retardation-hypogenitalism-cerebral anomaly syndrome
X-linked mental retardation-marfanoid habitus syndrome
X-linked mental retardation-psoriasis syndrome
X-linked mental retardation-seizures-acquired micrencephaly-agenesis of corpus callosum syndrome
X-linked mental retardation-spastic diplegia syndrome
X-linked mental retardation-thin habitus-osteoporosis-kyphoscoliosis syndrome
X-linked microcephaly-microphthalmia-microcornea-cataract-hypogenitalism-mental retardation-spasticity syndrome
X-linked monoamine oxidase deficiency
X-linked muscular dystrophy
X-linked myotubular myopathy [XLMTM, MTMX]
X-linked olivopontocerebellar atrophy [OPCA]
X-linked Opitz syndrome [XLOS]
X-linked primary hyperuricemia
X-linked recessive centronuclear myopathy
X-linked recessive deafness syndrome
X-linked recessive muscular dystrophy
X-linked recessive myotubular myopathy
X-linked seizures-acquired micrencephaly-agenesis of corpus callosum syndrome
X-linked uric aciduria enzyme defect
•••{}
* X Fragile=>Sindrome Martin Bell
* X Trisomia[Sindrome triplo X]=>vedi XXX Sindrome
* XANTINURIA[Xantina-ossidasi Deficit di]/Xantinuria[Xantina ossidasi deficit di]•Xanthinuria[Xanthine Oxidase deficiency/(XDH)]•Xanthinurie[Lithiase xanthique/Xanthine oxydase deficit en]••{278300-603592}
* XANTOMATOSI CEREBROTENDINEA/Xantomatosi cerebro-tendinea•Cerebrotendinous Xanthomatosis[CTX/Cerebral cholesterinosis]•Xanthomatose cérébrotendineuse[Stérol 27-hydroxylase, déficit en]••{213700}
* Xerocitosi ereditaria•Dehidrated hereditary stomacytosis[Xerocytosis, hereditary/Desiccytosis, hereditary]•Xérocytose héréditaire[Stomatocytose héréditaire avec hématies déshydratées]••{194380}
* XERODERMA PIGMENTOSO/Xeroderma Pigmentosum/Xeroderma pigmentosumXeroderma PigmentosumXeroderma pigmentosumXeroderma Pigmentario[Kaposi, Enfermedad de (Sarcoma no Kaposi)]•{278700-278780-278730-194400}
* Xerodermia piedi torti anomalie dello smalto/Xerodermia anomalie piedi e smalto••Xerodermie pieds bots email anomalie••{}
* Xilitolo deidrogenasi Deficit di[]•Pentosuria•Xylitol deshydrogenase deficit en[Pentosurie]••{260800}
* XK Sindrome•XK syndrome[Aprosencephaly Syndrome/Garcia-Lurie Sindrome/Atelencephalic Microcephaly syndrome/Aprosencephaly-Atelencephaly Syndrome/XK-Aprosencephaly Syndrome]•••{207770}
* XK aprosencefaliaXK-aprosencephaly syndromeXk aprosencephalie••{}
* XO Sindrome•XO syndrome[Chromosome XO syndromeMorgagni-Turner syndrome/Morgagni-Turner-Albright syndrome/Shereshevskii-Turner syndrome/Turner syndrome (TS)/Turner-Albright syndrome/Ullrich-Turner syndrome (UTS)/genital dwarfism/gonadal dysgenesis syndrome/ovarian dwarfism/ovarian short stature syndrome/primary ovarian insufficiency/pseudonuchal infantilism/XO syndrome]•••{}
* Xp21- Sindrome•Xp21- syndrome[chromosome Xp21 deletion syndrome/chromosome Xp21 monosomy/del(Xp21) syndrome/deletion Xp21 syndrome/monosomy Xp21/partial monosomy Xp21/Xp21- syndrome]•••{}
* Xp22- Sindrome•Xp22- syndrome[chromosome Xp22 deletion syndrome/Xp22 monosomy/del(Xp22) syndrome/deletion Xp22 syndrome/monosomy Xp22/partial monosomy Xp22/Xp22- syndrome]•••{}
* Xq Klinefelter Sindrome•Xq Klinefelter syndrome[chromosome XXY syndrome/Klinefelter syndrome (KS)/Klinefelter-Reifenstein syndrome/Klinefelter-Reifenstein-Albright syndrome/hypogonadotropic hypogonadism/primary hypogonadism/seminiferous tubule dysgenesis]•••{}
* Xq+ Sindrome•Xq+ syndrome[chromosome Xq trisomy/dup(Xq) syndrome/duplication (Xq) syndrome/partial trisomy Xq/trisomy Xq/Xq duplication syndrome/chromosome Xq duplication syndrome]•••{}
* Xq- Sindrome•Xq- syndrome[chromosome Xq deletion syndrome]•••{}
* XX-tipe gonadica disgenesia•XX-type gonadal dysgenesis[Perrault syndrome/Ovarian dysgenesis-sensorineural deafness syndrome]•••{233400}
* XXX Sindrome[Superfemmina]•Triplo X Syndrome/XXX syndrome[chromosome XXX syndrome/chromosome 47,XXX syndrome/super female/triple-X chromosome syndrome/triple-X female/triple-X syndrome/triplo-X syndrome/trisomy X/X trisomy]Trisomie X [Triplo X/47 XXX syndrome]••{}
* XXXXX Sindrome•XXXXX syndrome[chromosome XXXXX syndrome]•••{}
* XXXXY Sindrome•XXXXY syndrome[chromosome XXXXY syndrome/Klinefelter variant/49,XXXXY chromosomal anomaly/49,XXXXY syndrome/XXXXY aneuploidy]•••{}
* XYY Sindrome[Supermaschio]•XYY Syndrome••XYY, Síndrome de[YY, Síndrome/Patrón Cromosómico XYY/Diplo Y, Síndrome/Polisomía Y,47/ XYY, Síndrome/Cariotipo 47, XYY]•{}


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