commit c92e9c5f9940abcb2c7950377e1c2245059cad90
Author: davidlagorce <david.lagorce@inserm.fr>
Date: Mon Mar 1 10:54:09 2021 +0100
MARCH 2021
diff --git for en_product1.xml between February 2021 and March 2021
old mode 100755
new mode 100644
index 0f7c693..9d053b9
a/​Rareb/​Rare
1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>
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848 ············​<Name·​lang="en">Pontocerebe​llar·​hypoplasia·​type·​4</​Name>
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1047 ············​<Name·​lang="en">Pontocerebe​llar·​hypoplasia·​type·​5</​Name>
1048 ··········​</​RootDisorder>
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2485 ········​</​ExternalReference>2503 ········​</​ExternalReference>
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2490 ············​<Name·​lang="en">NTBT·​(ORPHA·​code's·​Narrower·​Term·​maps·​to·​a·​Broader·​Term)​</​Name>2508 ············​<Name·​lang="en">NTBT·​(ORPHA·​code's·​Narrower·​Term·​maps·​to·​a·​Broader·​Term)​</​Name>
2491 ··········​</​DisorderMappingRelati​on>2509 ··········​</​DisorderMappingRelati​on>
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2493 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>2511 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
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7391 ··········​<Reference>G04.​8</​Reference>7409 ··········​<Reference>G04.​8</​Reference>
7392 ··········​<DisorderMappingRelat​ion·​id="21534">7410 ··········​<DisorderMappingRelat​ion·​id="21534">
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7397 ··········​</​DisorderMappingICDRel​ation>7415 ··········​</​DisorderMappingICDRel​ation>
7398 ··········​<DisorderMappingValid​ationStatus·​id="21618">
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7401 ········​</​ExternalReference>
7402 ········​<ExternalReference·​id="120375">
7403 ··········​<Source>ICD-​10</​Source>
7404 ··········​<Reference>G13.​1</​Reference>
7405 ··········​<DisorderMappingRelat​ion·​id="21534">
7406 ············​<Name·​lang="en">NTBT·​(ORPHA·​code's·​Narrower·​Term·​maps·​to·​a·​Broader·​Term)​</​Name>
7407 ··········​</​DisorderMappingRelati​on>
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7410 ··········​</​DisorderMappingICDRel​ation>
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8556 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>8561 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
8557 ··········​</​DisorderMappingICDRel​ation>8562 ··········​</​DisorderMappingICDRel​ation>
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11473 ··············​<TextSectionType·​id="16907">11478 ··············​<TextSectionType·​id="16907">
11474 ················​<Name·​lang="en">Definition<​/​Name>11479 ················​<Name·​lang="en">Definition<​/​Name>
11475 ··············​</​TextSectionType>11480 ··············​</​TextSectionType>
11476 ··············​<Contents>Lafora·disease·(LD)​·is·a·​rare,​·​inherited,​·​severe,​·​progressive·​myoclonic·​epilepsy·​characterized·​by·​myoclonus·​and/​or·​generalized·​seizures,​·​visual·​hallucinations·​(partial·​occipital·​seizures)​,​·​and·​progressive·​neurological·​decline.​</​Contents>11481 ··············​<Contents>A·​rare,​·​inherited,​·​severe,​·​progressive·​myoclonic·​epilepsy·​characterized·​by·​myoclonus·​and/​or·​generalized·​seizures,​·​visual·​hallucinations·​(partial·​occipital·​seizures)​,​·​and·​progressive·​neurological·​decline.​</​Contents>
11477 ············​</​TextSection>11482 ············​</​TextSection>
11478 ··········​</​TextSectionList>11483 ··········​</​TextSectionList>
11479 ········​</​SummaryInformation>11484 ········​</​SummaryInformation>
12234 ··············​<TextSectionType·​id="16907">12239 ··············​<TextSectionType·​id="16907">
12235 ················​<Name·​lang="en">Definition<​/​Name>12240 ················​<Name·​lang="en">Definition<​/​Name>
12236 ··············​</​TextSectionType>12241 ··············​</​TextSectionType>
12237 ··············​<Contents>Sickle·​cell·anemias·are·​chronic·​hemolytic·diseases·that·​may·induce·three·types·of·​acute·accidents:​·​severe·​anemia,​·​severe·​bacterial·​infections,​·​and·​ischemic·​vasoocclusive·​accidents·​(VOA)​·caused·by·sickle-​shaped·red·blood·​cells·obstructing·small·blood·vessels·​and·capillaries.​·Many·​diverse·complications·can·​occur.​</​Contents>12242 ··············​<Contents>A·severe·form·of·sickle·​cell·disease·(SCD)​·​characterized·by·​homozygosity·for·the·sickle·hemoglobin·(HbS)​·gene·and·which·​acutely·manifests·with·​severe·​anemia,​·susceptibility·to·​severe·​bacterial·​infections,​·​and·​ischemic·​vasoocclusive·​accidents·​(VOA)​.​·It·is·a·red·cell·disease·of·genetic·origin·which·manifests·with·hemolytic·disease·​and·loss·of·red·cell·​deformability·leading·to·other·​occlusive·events.​</​Contents>
12238 ············​</​TextSection>12243 ············​</​TextSection>
12239 ··········​</​TextSectionList>12244 ··········​</​TextSectionList>
12240 ········​</​SummaryInformation>12245 ········​</​SummaryInformation>
13744 ··············​<TextSectionType·​id="16907">13749 ··············​<TextSectionType·​id="16907">
13745 ················​<Name·​lang="en">Definition<​/​Name>13750 ················​<Name·​lang="en">Definition<​/​Name>
13746 ··············​</​TextSectionType>13751 ··············​</​TextSectionType>
13747 ··············​<Contents>Wilson·disease·is·a·very·​rare·​inherited·​multisystemic·​disease·​presenting·​non-​specific·​neurological,​·​hepatic,​·​psychiatric·​or·​osseo-​muscular·​manifestations·​due·​to·​excessive·​copper·​deposition·​in·​the·​body.​</​Contents>13752 ··············​<Contents>A·​rare·​inherited·​multisystemic·​disease·​presenting·​non-​specific·​neurological,​·​hepatic,​·​psychiatric·​or·​osseo-​muscular·​manifestations·​due·​to·​excessive·​copper·​deposition·​in·​the·​body.​</​Contents>
13748 ············​</​TextSection>13753 ············​</​TextSection>
13749 ··········​</​TextSectionList>13754 ··········​</​TextSectionList>
13750 ········​</​SummaryInformation>13755 ········​</​SummaryInformation>
15364 ······​</​ExternalReferenceList​>15369 ······​</​ExternalReferenceList​>
15365 ······​<DisorderDisorderAsso​ciationList·​count="0">15370 ······​<DisorderDisorderAsso​ciationList·​count="0">
15366 ······​</​DisorderDisorderAssoc​iationList>15371 ······​</​DisorderDisorderAssoc​iationList>
15367 ······​<SummaryInformationLi​st·​count="0">15372 ······​<SummaryInformationLi​st·​count="1">
15373 ········​<SummaryInformation·​id="123536"·​lang="en">
15374 ··········​<TextSectionList·​count="1">
15375 ············​<TextSection·​id="160917"·​lang="en">
15376 ··············​<TextSectionType·​id="16907">
15377 ················​<Name·​lang="en">Definition<​/​Name>
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15379 ··············​<Contents>A·​rare·​non-​acquired·​pituitary·​hormone·​deficiency·​characterized·​by·​growth·​deficiency,​·​delayed·​bone·​age,​·​and·​short·​stature·​of·​variable·​severity·​and·​age·​of·​onset,​·​and·​with·​variable·​response·​to·​treatment·​with·​recombinant·​human·​growth·​hormone,​·​depending·​on·​the·​respective·​subtype·​of·​the·​disease.​·​Hormone·​deficiency·​may·​be·​quantitative·​or·​qualitative·​in·​nature.​</​Contents>
15380 ············​</​TextSection>
15381 ··········​</​TextSectionList>
15382 ········​</​SummaryInformation>
15368 ······​</​SummaryInformationLis​t>15383 ······​</​SummaryInformationLis​t>
15369 ····​</​Disorder>15384 ····​</​Disorder>
15370 ····​<Disorder·​id="170">15385 ····​<Disorder·​id="170">
16960 ··············​<TextSectionType·​id="16907">16975 ··············​<TextSectionType·​id="16907">
16961 ················​<Name·​lang="en">Definition<​/​Name>16976 ················​<Name·​lang="en">Definition<​/​Name>
16962 ··············​</​TextSectionType>16977 ··············​</​TextSectionType>
16963 ··············​<Contents>Maffucci·syndrome·is·a·very·rare·genetic·bone·and·skin·disorder·​characterized·​by·​multiple·​enchondromas,​·leading·to·bone·deformities,​·combined·​with·multiple·dark,​·irregularly·shaped·​hemangiomas·or·less·commonly·lymphangiomas.​</​Contents>16978 ··············​<Contents>A·rare·nonhereditary·mesodermal·​dysplasia·​characterized·​by·​multiple·​enchondromatosis·associated·​with·soft·tissue·​hemangiomas.​</​Contents>
16964 ············​</​TextSection>16979 ············​</​TextSection>
16965 ··········​</​TextSectionList>16980 ··········​</​TextSectionList>
16966 ········​</​SummaryInformation>16981 ········​</​SummaryInformation>
17266 ········​<Name·​lang="en">Disorder</​Name>17281 ········​<Name·​lang="en">Disorder</​Name>
17267 ······​</​DisorderGroup>17282 ······​</​DisorderGroup>
17268 ······​<ExternalReferenceLis​t·​count="1">17283 ······​<ExternalReferenceLis​t·​count="1">
17269 ········​<ExternalReference·​id="120364">17284 ········​<ExternalReference·​id="187713">
17270 ··········​<Source>ICD-​10</​Source>17285 ··········​<Source>ICD-​10</​Source>
17271 ··········​<Reference>G40.​5</​Reference>17286 ··········​<Reference>G40.​5</​Reference>
17272 ··········​<DisorderMappingRelat​ion·​id="21534">17287 ··········​<DisorderMappingRelat​ion·​id="21534">
17275 ··········​<DisorderMappingICDRe​lation·​id="21604">17290 ··········​<DisorderMappingICDRe​lation·​id="21604">
17276 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>17291 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
17277 ··········​</​DisorderMappingICDRel​ation>17292 ··········​</​DisorderMappingICDRel​ation>
17278 ··········​<DisorderMappingValid​ationStatus·​id="21618">17293 ··········​<DisorderMappingValid​ationStatus·​id="21611">
17279 ············​<Name·​lang="en">Not·yet·validated</​Name>17294 ············​<Name·​lang="en">Validated</​Name>
17280 ··········​</​DisorderMappingValida​tionStatus>17295 ··········​</​DisorderMappingValida​tionStatus>
17281 ········​</​ExternalReference>17296 ········​</​ExternalReference>
17282 ······​</​ExternalReferenceList​>17297 ······​</​ExternalReferenceList​>
19817 ··············​<TextSectionType·​id="16907">19832 ··············​<TextSectionType·​id="16907">
19818 ················​<Name·​lang="en">Definition<​/​Name>19833 ················​<Name·​lang="en">Definition<​/​Name>
19819 ··············​</​TextSectionType>19834 ··············​</​TextSectionType>
19820 ··············​<Contents>A·​hereditary·​disease·​that·​develops·​in·​adulthood·​and·​is·​characterized·​by·​chronic·​liver·​disorders·​(cirrhosis)​,​·​respiratory·​disorders·​(emphysema)​,​·​and·​rarely·​panniculitis.​</​Contents>19835 ··············​<Contents>A·​hereditary·​disease·​that·​develops·​in·​adulthood·​and·​is·​characterized·​by·​chronic·​liver·​disorders·​(cirrhosis)​,​·​respiratory·​disorders·​(emphysema)​,​·​and·​rarely·​panniculitis.​·Serum·levels·of·alpha-​1-​antitrypsin·(AAT)​,​·the·main·protease·inhibitor·(PI)​·in·human·serum,​·are·low.​</​Contents>
19821 ············​</​TextSection>19836 ············​</​TextSection>
19822 ··········​</​TextSectionList>19837 ··········​</​TextSectionList>
19823 ········​</​SummaryInformation>19838 ········​</​SummaryInformation>
21686 ··············​<TextSectionType·​id="16907">21701 ··············​<TextSectionType·​id="16907">
21687 ················​<Name·​lang="en">Definition<​/​Name>21702 ················​<Name·​lang="en">Definition<​/​Name>
21688 ··············​</​TextSectionType>21703 ··············​</​TextSectionType>
21689 ··············​<Contents>A·​rare·​genetic·​disorder·​characterized·​by·​an·unusual·complex·of·congenital·developmental·​abnormalities·with·​intellectual·​disability,​·​and·​an·​increased·​risk·​of·​developing·​Wilms·​tumor.​</​Contents>21704 ··············​<Contents>A·​rare·​genetic·​disorder·​characterized·​by·the·association·of·total·or·partial·aniridia,​·genitourinary·anomalies·(ranging·from·sexual·​ambiguity·to·ectopia·testis)​,​·variable·degrees·of·​intellectual·​disability,​·​and·​an·​increased·​risk·​of·​developing·​Wilms·​tumor.​·Glaucoma·or·cataract·are·also·possible,​·and·a·minority·of·patients·develop·kidney·failure.​·Other·varaible·findings·may·include·obesity·and·duplicated·halluces.​</​Contents>
21690 ············​</​TextSection>21705 ············​</​TextSection>
21691 ··········​</​TextSectionList>21706 ··········​</​TextSectionList>
21692 ········​</​SummaryInformation>21707 ········​</​SummaryInformation>
23448 ··············​<TextSectionType·​id="16907">23463 ··············​<TextSectionType·​id="16907">
23449 ················​<Name·​lang="en">Definition<​/​Name>23464 ················​<Name·​lang="en">Definition<​/​Name>
23450 ··············​</​TextSectionType>23465 ··············​</​TextSectionType>
23451 ··············​<Contents>Mitochondri​al·oxidative·phosphorylation·disorder·due·to·nuclear·DNA·anomalies·is·a·​group·​of·​clinically·​heterogeneous·​diseases,​·​commonly·​defined·​by·​lack·​of·​cellular·​energy·​due·​to·​defects·​of·​oxidative·​phosphorylation·​(OXPHOS)​,​·​resulting·​from·​pathogenic·​mutations·​in·​the·​nuclear·​DNA.​·​Mitochondrial·​oxidative·​phosphorylation·​disorder·​due·​to·​nuclear·​DNA·​anomalies·​includes·​diseases·​classified·​according·​to·​defects·​in:​·​genes·​encoding·​structural·​components·​of·​OXPHOS·​complexes·​(such·​as·​Leigh·​syndrome,​·​coenzyme·​Q10·​deficiency)​;​·​genes·​encoding·​assembly·​factors·​of·​OXPHOS·​complexes·​(such·​as·​GRACILE·​syndrome)​;​·​genes·​altering·​the·​stability·​of·​mitochondrial·​DNA·​(such·​as·​autosomal·​dominant·​progressive·​external·​ophthalmoplegia,​·​mitochondrial·​DNA·​depletion·​syndrome)​;​·​mitochondrial·​protein·​synthesis·(see·these·terms)​.​</​Contents>23466 ··············​<Contents>A·​group·​of·​clinically·​heterogeneous·​diseases,​·​commonly·​defined·​by·​lack·​of·​cellular·​energy·​due·​to·​defects·​of·​oxidative·​phosphorylation·​(OXPHOS)​,​·​resulting·​from·​pathogenic·​mutations·​in·​the·​nuclear·​DNA.​·​Mitochondrial·​oxidative·​phosphorylation·​disorder·​due·​to·​nuclear·​DNA·​anomalies·​includes·​diseases·​classified·​according·​to·​defects·​in:​·​genes·​encoding·​structural·​components·​of·​OXPHOS·​complexes·​(such·​as·​Leigh·​syndrome,​·​coenzyme·​Q10·​deficiency)​;​·​genes·​encoding·​assembly·​factors·​of·​OXPHOS·​complexes·​(such·​as·​GRACILE·​syndrome)​;​·​genes·​altering·​the·​stability·​of·​mitochondrial·​DNA·​(such·​as·​autosomal·​dominant·​progressive·​external·​ophthalmoplegia,​·​mitochondrial·​DNA·​depletion·​syndrome)​;​·​mitochondrial·​protein·​synthesis.​</​Contents>
23452 ············​</​TextSection>23467 ············​</​TextSection>
23453 ··········​</​TextSectionList>23468 ··········​</​TextSectionList>
23454 ········​</​SummaryInformation>23469 ········​</​SummaryInformation>
24067 ··············​<TextSectionType·​id="16907">24082 ··············​<TextSectionType·​id="16907">
24068 ················​<Name·​lang="en">Definition<​/​Name>24083 ················​<Name·​lang="en">Definition<​/​Name>
24069 ··············​</​TextSectionType>24084 ··············​</​TextSectionType>
24070 ··············​<Contents>Meckel·syndrome·(MKS)​·is·a·​rare,​·​lethal,​·​genetic,​·​multiple·​congenital·​anomaly·​disorder·​characterized·​by·​the·​triad·​of·​brain·​malformation·​(mainly·​occipital·​encephalocele)​,​·​large·​polycystic·​kidneys,​·​and·​polydactyly,​·​as·​well·​as·​associated·​abnormalities·​that·​may·​include·​cleft·​lip/​palate,​·​cardiac·​and·​genital·​anomalies,​·​central·​nervous·​system·​(CNS)​·​malformations,​·​liver·​fibrosis,​·​and·​bone·​dysplasia.​</​Contents>24085 ··············​<Contents>A·​rare,​·​lethal,​·​genetic,​·​multiple·​congenital·​anomaly·​disorder·​characterized·​by·​the·​triad·​of·​brain·​malformation·​(mainly·​occipital·​encephalocele)​,​·​large·​polycystic·​kidneys,​·​and·​polydactyly,​·​as·​well·​as·​associated·​abnormalities·​that·​may·​include·​cleft·​lip/​palate,​·​cardiac·​and·​genital·​anomalies,​·​central·​nervous·​system·​(CNS)​·​malformations,​·​liver·​fibrosis,​·​and·​bone·​dysplasia.​</​Contents>
24071 ············​</​TextSection>24086 ············​</​TextSection>
24072 ··········​</​TextSectionList>24087 ··········​</​TextSectionList>
24073 ········​</​SummaryInformation>24088 ········​</​SummaryInformation>
24183 ··············​<TextSectionType·​id="16907">24198 ··············​<TextSectionType·​id="16907">
24184 ················​<Name·​lang="en">Definition<​/​Name>24199 ················​<Name·​lang="en">Definition<​/​Name>
24185 ··············​</​TextSectionType>24200 ··············​</​TextSectionType>
24186 ··············​<Contents>Ellis-​van·Creveld·syndrome·(EVC)​·is·a·skeletal·​and·​ectoderlam·​dysplasia·​characterized·​by·a·tetrad·of·​short·stature,​·postaxial·​polydactyly,​·ectodermal·dysplasia,​·​and·​congenital·​heart·​defects.​</​Contents>24201 ··············​<Contents>A·​rare·chondral·​and·​ectodermal·​dysplasia·​characterized·​by·​short·​ribs,​·​polydactyly,​·growth·retardation,​·​and·ectodermal·and·​heart·​defects.​</​Contents>
24187 ············​</​TextSection>24202 ············​</​TextSection>
24188 ··········​</​TextSectionList>24203 ··········​</​TextSectionList>
24189 ········​</​SummaryInformation>24204 ········​</​SummaryInformation>
28645 ··············​<TextSectionType·​id="16907">28660 ··············​<TextSectionType·​id="16907">
28646 ················​<Name·​lang="en">Definition<​/​Name>28661 ················​<Name·​lang="en">Definition<​/​Name>
28647 ··············​</​TextSectionType>28662 ··············​</​TextSectionType>
28648 ··············​<Contents>Trisomy·18p·​is·an·extremely·​rare·​chromosomal·​anomaly·​with·​a·poorly·defined·​clinical·​phenotype.​·Reported·​manifestations·​include·short·stature,​·mild,​·moderate·or·severe·​developmental·​delay·​and·​intellectual·​disability,​·variable·but·mild·facial·​dysmorphism,​·​and·epilepsy.​</​Contents>28663 ··············​<Contents>A·rare·partial·trisomy·of·the·short·arm·of·​chromosome·18·manifesting·​with·​a·highly·variable·​clinical·​phenotype·which·​may·​include·variable·​developmental·​delay·​and·​intellectual·​disability,​·epilepsy,​·and·non-​specific·​dysmorphic·features,​·​among·others.​</​Contents>
28649 ············​</​TextSection>28664 ············​</​TextSection>
28650 ··········​</​TextSectionList>28665 ··········​</​TextSectionList>
28651 ········​</​SummaryInformation>28666 ········​</​SummaryInformation>
31486 ··············​<TextSectionType·​id="16907">31501 ··············​<TextSectionType·​id="16907">
31487 ················​<Name·​lang="en">Definition<​/​Name>31502 ················​<Name·​lang="en">Definition<​/​Name>
31488 ··············​</​TextSectionType>31503 ··············​</​TextSectionType>
31489 ··············​<Contents>Congenital·osteogenesis·imperfecta-​microcephaly-​cataracts·​syndrome·is·​characterised·​by·multiple·fractures·in·the·​prenatal·period,​·​microcephaly·​and·​bilateral·​cataracts.​·It·has·been·​described·​in·​three·​infants·​all·of·whom·died·​&lt;​i&gt;​in·​utero&lt;​/​i&gt;​·​or·a·few·hours·​after·​birth.​·​The·mode·​of·inheritance·appears·to·be·autosomal·recessive.​</​Contents>31504 ··············​<Contents>A·rare·multiple·congenital·​malformations/​dysmorphic·​syndrome·​characterized·​by·osteogenesis·imperfecta·with·multiple·​prenatal·bone·fractures,​·joint·laxity,​·severe·​microcephaly,​·​and·​bilateral·​cataracts.​·Additional·reported·manifestations·include·dysmorphic·facial·features·(such·as·blue·sclerae,​·hypertelorism,​·and·low-​set·ears)​,​·lissencephaly,​·hydrocephalus,​·and·cardiac·and·genital·anomalies.​·The·syndrome·is·lethal·​&lt;​i&gt;​in·​utero&lt;​/​i&gt;​·​or·shortly·​after·​birth.​·​There·have·been·no·further·descriptions·in·the·literature·since·1978.​</​Contents>
31490 ············​</​TextSection>31505 ············​</​TextSection>
31491 ··········​</​TextSectionList>31506 ··········​</​TextSectionList>
31492 ········​</​SummaryInformation>31507 ········​</​SummaryInformation>
35443 ··············​<TextSectionType·​id="16907">35458 ··············​<TextSectionType·​id="16907">
35444 ················​<Name·​lang="en">Definition<​/​Name>35459 ················​<Name·​lang="en">Definition<​/​Name>
35445 ··············​</​TextSectionType>35460 ··············​</​TextSectionType>
35446 ··············​<Contents>Retinitis·pigmentosa·-​·intellectual·disability·-​·deafness·-​·hypogenitalism·is·an·extremely·​rare·​syndromic·​retinitis·​pigmentosa·​characterized·​by·​pigmentary·​retinopathy,​·​diabetes·​mellitus·​with·​hyperinsulinism,​·​acanthosis·​nigricans,​·​secondary·​cataracts,​·​neurogenic·​deafness,​·​short·​stature·​mild·​hypogonadism·​in·​males·​and·​polycystic·​ovaries·​with·​oligomenorrhea·​in·​females.​·​Inheritance·​is·​thought·​to·​be·​autosomal·​recessive.​·​It·​can·​be·​distinguished·​from·​Alstrom·​syndrome·​(see·​this·​term)​·​by·​the·​presence·​of·​intellectual·​disability·​and·​the·​absence·​of·​renal·​insufficiency.​·​There·​have·​been·​no·​further·​descriptions·​in·​the·​literature·​since·​1993.​</​Contents>35461 ··············​<Contents>A·​rare·​syndromic·​retinitis·​pigmentosa·​characterized·​by·​pigmentary·​retinopathy,​·​diabetes·​mellitus·​with·​hyperinsulinism,​·​acanthosis·​nigricans,​·​secondary·​cataracts,​·​neurogenic·​deafness,​·​short·​stature·​mild·​hypogonadism·​in·​males·​and·​polycystic·​ovaries·​with·​oligomenorrhea·​in·​females.​·​Inheritance·​is·​thought·​to·​be·​autosomal·​recessive.​·​It·​can·​be·​distinguished·​from·​Alstrom·​syndrome·​(see·​this·​term)​·​by·​the·​presence·​of·​intellectual·​disability·​and·​the·​absence·​of·​renal·​insufficiency.​·​There·​have·​been·​no·​further·​descriptions·​in·​the·​literature·​since·​1993.​</​Contents>
35447 ············​</​TextSection>35462 ············​</​TextSection>
35448 ··········​</​TextSectionList>35463 ··········​</​TextSectionList>
35449 ········​</​SummaryInformation>35464 ········​</​SummaryInformation>
36444 ········​<Name·​lang="en">Disorder</​Name>36459 ········​<Name·​lang="en">Disorder</​Name>
36445 ······​</​DisorderGroup>36460 ······​</​DisorderGroup>
36446 ······​<ExternalReferenceLis​t·​count="1">36461 ······​<ExternalReferenceLis​t·​count="1">
36447 ········​<ExternalReference·​id="179636">36462 ········​<ExternalReference·​id="187697">
36448 ··········​<Source>ICD-​10</​Source>36463 ··········​<Source>ICD-​10</​Source>
36449 ··········​<Reference>Q04.​0</​Reference>36464 ··········​<Reference>Q04.​0</​Reference>
36450 ··········​<DisorderMappingRelat​ion·​id="21534">36465 ··········​<DisorderMappingRelat​ion·​id="21534">
36453 ··········​<DisorderMappingICDRe​lation·​id="21604">36468 ··········​<DisorderMappingICDRe​lation·​id="21604">
36454 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>36469 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
36455 ··········​</​DisorderMappingICDRel​ation>36470 ··········​</​DisorderMappingICDRel​ation>
36456 ··········​<DisorderMappingValid​ationStatus·​id="21618">36471 ··········​<DisorderMappingValid​ationStatus·​id="21611">
36457 ············​<Name·​lang="en">Not·yet·validated</​Name>36472 ············​<Name·​lang="en">Validated</​Name>
36458 ··········​</​DisorderMappingValida​tionStatus>36473 ··········​</​DisorderMappingValida​tionStatus>
36459 ········​</​ExternalReference>36474 ········​</​ExternalReference>
36460 ······​</​ExternalReferenceList​>36475 ······​</​ExternalReferenceList​>
40053 ··············​<TextSectionType·​id="16907">40068 ··············​<TextSectionType·​id="16907">
40054 ················​<Name·​lang="en">Definition<​/​Name>40069 ················​<Name·​lang="en">Definition<​/​Name>
40055 ··············​</​TextSectionType>40070 ··············​</​TextSectionType>
40056 ··············​<Contents>Gonadal·dysgenesis·​with·multiple·anomalies·is·an·association·​syndrome·​described·only·once·in·two·sisters·aged·1·1/​2·and·8·1/​2·years.​·They·had·a·46,​XY·karyotype,​·cleft·lip·and·palate,​·preauricular·pits,​·​and·a·'squashed·down'·appearance·because·of·​a·short·columella·and·small·nares.​·Other·anomalies·included·broad·hands·and·feet,​·and·a·hypermuscular·appearance.​·Cardiac,​·​renal,​·​musculoskeletal,​·​and·​ectodermal·​anomalies·were·also·present.​·Ectodermal·defects·​included·'punched·out·​scalp·​defects'·​and·​unusual·positioning·of·​hair·​whorls.​·They·also·had·short·stature,​·​streak·gonads,​·and·mild·developmental·​delay.​·​The·mode·​of·inheritance·is·most·​likely·autosomal·recessive.​</​Contents>40071 ··············​<Contents>A·rare·​syndrome·​with·46,​XY·disorder·of·​sex·​development·characterized·by·mild·developmental·delay·​and·​streak·gonads·​associated·with·​short·​stature,​·cardiac,​·​renal,​·​musculoskeletal,​·​and·​ectodermal·​abnormalities·(the·latter·​including·​scalp·​defects·​and·​unusual·​hair·​whorls)​,​·and·dysmorphic·facial·features·(such·as·preauricular·pits,​·short·columella,​·and·small·nares)​.​·​There·have·been·no·further·descriptions·in·the·​literature·since·1980.​</​Contents>
40057 ············​</​TextSection>40072 ············​</​TextSection>
40058 ··········​</​TextSectionList>40073 ··········​</​TextSectionList>
40059 ········​</​SummaryInformation>40074 ········​</​SummaryInformation>
43693 ··············​<TextSectionType·​id="16907">43708 ··············​<TextSectionType·​id="16907">
43694 ················​<Name·​lang="en">Definition<​/​Name>43709 ················​<Name·​lang="en">Definition<​/​Name>
43695 ··············​</​TextSectionType>43710 ··············​</​TextSectionType>
43696 ··············​<Contents>Ebstein's·malformation·is·a·​rare·​congenital·​cardiac·​anomaly·​characterized·​by·​rotational·​displacement·​of·​the·​septal·​and·​inferior·​leaflets·​of·​the·​tricuspid·​valve·​such·​that·​they·​are·​hinged·​within·​the·​right·​ventricle,​·​rather·​than·​as·​expected·​at·​the·​atrioventricular·​junction.​</​Contents>43711 ··············​<Contents>A·​rare·​congenital·​cardiac·​anomaly·​characterized·​by·downward·(apical)​·displacement·of·the·functional·annulus,​·​due·to·incomplete·delamination·​of·​the·​septal·​and·​inferior·​leaflets·​of·​the·​tricuspid·​valve·​such·​that·​they·​are·​hinged·​within·​the·​right·​ventricle,​·​rather·​than·​as·​expected·at·the·atrioventricular·junction.​·The·anterosuperior·leaflet·is·often·abnormal·(redundancy,​·fenestrations,​·tethering·with·abnormal·subvalvar·apparatus)​.​·The·​atrioventricular·​junction·and·the·''atrialized''·portion·of·the·right·ventricle·are·dilated,​·with·variable·degrees·of·thinning·of·the·right·ventricular·wall.​</​Contents>
43697 ············​</​TextSection>43712 ············​</​TextSection>
43698 ··········​</​TextSectionList>43713 ··········​</​TextSectionList>
43699 ········​</​SummaryInformation>43714 ········​</​SummaryInformation>
47868 ··············​<TextSectionType·​id="16907">47883 ··············​<TextSectionType·​id="16907">
47869 ················​<Name·​lang="en">Definition<​/​Name>47884 ················​<Name·​lang="en">Definition<​/​Name>
47870 ··············​</​TextSectionType>47885 ··············​</​TextSectionType>
47871 ··············​<Contents>A·very·​rare,​·genetic,​·​multiple·​congenital·​anomaly·disorder·​characterized·​by·bone·​abnormalities,​·​distinctive·facial·features,​·​multiple·​exostoses,​·​and·intellectual·disability.​</​Contents>47886 ··············​<Contents>A·​rare·​multiple·​congenital·​anomalies·syndrome·​characterized·​by·the·​association·of·intellectual·​disability·and·numerous·other·anomalies·including·redundant·skin,​·​multiple·cartilaginous·​exostoses,​·characteristic·facies·​and·cone-​shaped·phalangeal·epiphyses.​</​Contents>
47872 ············​</​TextSection>47887 ············​</​TextSection>
47873 ··········​</​TextSectionList>47888 ··········​</​TextSectionList>
47874 ········​</​SummaryInformation>47889 ········​</​SummaryInformation>
48609 ············​<Name·​lang="en">Validated</​Name>48624 ············​<Name·​lang="en">Validated</​Name>
48610 ··········​</​DisorderMappingValida​tionStatus>48625 ··········​</​DisorderMappingValida​tionStatus>
48611 ········​</​ExternalReference>48626 ········​</​ExternalReference>
48612 ········​<ExternalReference·​id="178090">48627 ········​<ExternalReference·​id="187718">
48613 ··········​<Source>ICD-​10</​Source>48628 ··········​<Source>ICD-​10</​Source>
48614 ··········​<Reference>D24</​Reference>48629 ··········​<Reference>D24</​Reference>
48615 ··········​<DisorderMappingRelat​ion·​id="21527">48630 ··········​<DisorderMappingRelat​ion·​id="21534">
48616 ············​<Name·​lang="en">E·​(Exact·mapping:​·the·two·concepts·​are·equivalent)​</​Name>48631 ············​<Name·​lang="en">NTBT·​(ORPHA·code's·Narrower·Term·maps·to·​a·Broader·Term)​</​Name>
48617 ··········​</​DisorderMappingRelati​on>48632 ··········​</​DisorderMappingRelati​on>
48618 ··········​<DisorderMappingICDRe​lation·​id="21604">48633 ··········​<DisorderMappingICDRe​lation·​id="21604">
48619 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>48634 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
48620 ··········​</​DisorderMappingICDRel​ation>48635 ··········​</​DisorderMappingICDRel​ation>
48621 ··········​<DisorderMappingValid​ationStatus·​id="21618">48636 ··········​<DisorderMappingValid​ationStatus·​id="21611">
48622 ············​<Name·​lang="en">Not·yet·validated</​Name>48637 ············​<Name·​lang="en">Validated</​Name>
48623 ··········​</​DisorderMappingValida​tionStatus>48638 ··········​</​DisorderMappingValida​tionStatus>
48624 ········​</​ExternalReference>48639 ········​</​ExternalReference>
48625 ······​</​ExternalReferenceList​>48640 ······​</​ExternalReferenceList​>
49025 ··············​<TextSectionType·​id="16907">49040 ··············​<TextSectionType·​id="16907">
49026 ················​<Name·​lang="en">Definition<​/​Name>49041 ················​<Name·​lang="en">Definition<​/​Name>
49027 ··············​</​TextSectionType>49042 ··············​</​TextSectionType>
49028 ··············​<Contents>A·​very·​rare·​genetic·​multisystemic·​disorder·​characterized·​by·​pituitary·dysfunction,​·ataxia,​·peripheral·neuropathy,​·spastic·paraplegia,​·and·chorioretinal·dystrophy.​</​Contents>49043 ··············​<Contents>A·​very·​rare·​genetic·​multisystemic·​disorder·​characterized·​by·​progressive·neurological,​·ophthalmologic·and·endocrine·manifestations·leading·to·severe·handicap.​</​Contents>
49029 ············​</​TextSection>49044 ············​</​TextSection>
49030 ··········​</​TextSectionList>49045 ··········​</​TextSectionList>
49031 ········​</​SummaryInformation>49046 ········​</​SummaryInformation>
49563 ··············​<TextSectionType·​id="16907">49578 ··············​<TextSectionType·​id="16907">
49564 ················​<Name·​lang="en">Definition<​/​Name>49579 ················​<Name·​lang="en">Definition<​/​Name>
49565 ··············​</​TextSectionType>49580 ··············​</​TextSectionType>
49566 ··············​<Contents>Muir-​Torre·syndrome·(MTS)​·​is·​a·form·​of·hereditary·nonpolyposis·​colon·cancer·(HNPCC)​·​characterized·by·​cutaneous·​sebaceous·​tumors,​·​keratoacanthomas·​and·​at·least·​one·visceral·​malignancy,​·most·frequently·​gastrointestinal·​carcinoma.​</​Contents>49581 ··············​<Contents>A·form·of·hereditary·nonpolyposis·colon·cancer·characterized·by·the·development·of·cutaneous·sebaceous·neoplasia·and·​at·least·​one·visceral·malignancy,​·most·frequently·gastrointestinal·carcinoma.​·The·malignancies·are·usually·multiple,​·occur·at·an·early·age,​·but·tend·to·be·of·low-​grade·and·have·a·relatively·low·incidence·of·metastases.​·Sebaceous·tumors·are·usually·multiple,​·with·​sebaceous·adenomas·being·​the·commonest.​·Multiple·​keratoacanthomas,​·usually·located·on·the·face·or·the·trunk,​·have·been·reported·as·a·feature.​·Cutaneous·tumors·may·precede·or·follow·the·first·presentation·of·internal·​malignancy,​·which·usually·involves·the·​gastrointestinal·tract,​·the·breast·or·the·genitourinary·tract.​</​Contents>
49567 ············​</​TextSection>49582 ············​</​TextSection>
49568 ··········​</​TextSectionList>49583 ··········​</​TextSectionList>
49569 ········​</​SummaryInformation>49584 ········​</​SummaryInformation>
49697 ··············​<TextSectionType·​id="16907">49712 ··············​<TextSectionType·​id="16907">
49698 ················​<Name·​lang="en">Definition<​/​Name>49713 ················​<Name·​lang="en">Definition<​/​Name>
49699 ··············​</​TextSectionType>49714 ··············​</​TextSectionType>
49700 ··············​<Contents>A·​very·​rare·​congenital·​cranial·​dysinnervation·​disorder·​characterized·​by·complete·or·incomplete·facial·​paralysis·in·association·with·bilateral·​palsy·of·the·abducens·​nerve·causing·​impairment·​of·​ocular·​abduction.​·The·syndrome·​also·includes·various·​other·​congenital·​anomalies.​</​Contents>49715 ··············​<Contents>A·​very·​rare·​congenital·​cranial·​dysinnervation·​disorder·​characterized·​by·unilateral·or·bilateral·non·​progressive·congenital·facial·​palsy·(VII·cranial·​nerve)​·with·​impairments·​of·​ocular·​abduction·(VI·cranial·nerve)​.​·It·can·​also·be·associated·with·​other·​cranial·nerves·palsies,​·orofacial·​anomalies·and·limb·defects.​</​Contents>
49701 ············​</​TextSection>49716 ············​</​TextSection>
49702 ··········​</​TextSectionList>49717 ··········​</​TextSectionList>
49703 ········​</​SummaryInformation>49718 ········​</​SummaryInformation>
57705 ··············​<TextSectionType·​id="16907">57720 ··············​<TextSectionType·​id="16907">
57706 ················​<Name·​lang="en">Definition<​/​Name>57721 ················​<Name·​lang="en">Definition<​/​Name>
57707 ··············​</​TextSectionType>57722 ··············​</​TextSectionType>
57708 ··············​<Contents>A·type·of·​idiopathic·​inflammatory·​myopathy·​characterized·​by·​evocative·​skin·​lesions·and·​symmetrical·​proximal·​muscle·​weakness.​</​Contents>57723 ··············​<Contents>A·rare·​idiopathic·​inflammatory·​myopathy·(IIM)​·​characterized·​by·​evocative·​skin·​lesions,​·muscle·involvement·with·​symmetrical·​proximal·​muscle·​weakness,​·and·specific·histological·features.​·The·clinical·subtypes·are·defined·by·the·presence·of·myositis-​specific·antibodies·(anti-​Mi2,​·anti-​NXP2,​·anti-​TIF1-​&amp;​#947;​,​·anti-​MDA5,​·or·anti-​SAE·antibodies)​·and·are·associated·with·specific·clinical·phenotypes·and·prognosis.​</​Contents>
57709 ············​</​TextSection>57724 ············​</​TextSection>
57710 ··········​</​TextSectionList>57725 ··········​</​TextSectionList>
57711 ········​</​SummaryInformation>57726 ········​</​SummaryInformation>
57826 ········​<Name·​lang="en">Disorder</​Name>57841 ········​<Name·​lang="en">Disorder</​Name>
57827 ······​</​DisorderGroup>57842 ······​</​DisorderGroup>
57828 ······​<ExternalReferenceLis​t·​count="1">57843 ······​<ExternalReferenceLis​t·​count="1">
57829 ········​<ExternalReference·​id="153085">57844 ········​<ExternalReference·​id="187717">
57830 ··········​<Source>ICD-​10</​Source>57845 ··········​<Source>ICD-​10</​Source>
57831 ··········​<Reference>C84.​5</​Reference>57846 ··········​<Reference>C84.​5</​Reference>
57832 ··········​<DisorderMappingRelat​ion·​id="21534">57847 ··········​<DisorderMappingRelat​ion·​id="21534">
57835 ··········​<DisorderMappingICDRe​lation·​id="21604">57850 ··········​<DisorderMappingICDRe​lation·​id="21604">
57836 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>57851 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
57837 ··········​</​DisorderMappingICDRel​ation>57852 ··········​</​DisorderMappingICDRel​ation>
57838 ··········​<DisorderMappingValid​ationStatus·​id="21618">57853 ··········​<DisorderMappingValid​ationStatus·​id="21611">
57839 ············​<Name·​lang="en">Not·yet·validated</​Name>57854 ············​<Name·​lang="en">Validated</​Name>
57840 ··········​</​DisorderMappingValida​tionStatus>57855 ··········​</​DisorderMappingValida​tionStatus>
57841 ········​</​ExternalReference>57856 ········​</​ExternalReference>
57842 ······​</​ExternalReferenceList​>57857 ······​</​ExternalReferenceList​>
58389 ··············​<TextSectionType·​id="16907">58404 ··············​<TextSectionType·​id="16907">
58390 ················​<Name·​lang="en">Definition<​/​Name>58405 ················​<Name·​lang="en">Definition<​/​Name>
58391 ··············​</​TextSectionType>58406 ··············​</​TextSectionType>
58392 ··············​<Contents>Inclusion·body·myositis·(IBM)​·is·a·slowly·progressive·​degenerative·​inflammatory·​disorder·​of·​skeletal·​muscles·​characterized·​by·​late·​onset·​weakness·​of·​specific·muscles·and·distinctive·​histopathological·​features.​</​Contents>58407 ··············​<Contents>A·​rare·​degenerative·​inflammatory·​disorder·​of·​skeletal·​muscles·​characterized·​by·​late·​onset·​weakness,​·starting·in·either·the·quadriceps·​or·finger·flexors·and·​slowly·progressing·to·include·other·groups·of·limb·muscles.​·Distinctive·​histopathological·features·include·inflammatory·and·degenerative·​features.​</​Contents>
58393 ············​</​TextSection>58408 ············​</​TextSection>
58394 ··········​</​TextSectionList>58409 ··········​</​TextSectionList>
58395 ········​</​SummaryInformation>58410 ········​</​SummaryInformation>
60483 ··········​<Label></​Label>60498 ··········​<Label></​Label>
60484 ········​</​DisorderFlag>60499 ········​</​DisorderFlag>
60485 ······​</​DisorderFlagList>60500 ······​</​DisorderFlagList>
60486 ······​<SynonymList·​count="2">60501 ······​<SynonymList·​count="1">
60487 ········​<Synonym·​lang="en">EBS</​Synonym>60502 ········​<Synonym·​lang="en">EBS</​Synonym>
60488 ········​<Synonym·​lang="en">EEB</​Synonym>
60489 ······​</​SynonymList>60503 ······​</​SynonymList>
60490 ······​<DisorderType·​id="21436">60504 ······​<DisorderType·​id="21436">
60491 ········​<Name·​lang="en">Clinical·​group</​Name>60505 ········​<Name·​lang="en">Clinical·​group</​Name>
60519 ··········​</​DisorderMappingValida​tionStatus>60533 ··········​</​DisorderMappingValida​tionStatus>
60520 ········​</​ExternalReference>60534 ········​</​ExternalReference>
60521 ······​</​ExternalReferenceList​>60535 ······​</​ExternalReferenceList​>
60522 ······​<DisorderDisorderAsso​ciationList·​count="1">60536 ······​<DisorderDisorderAsso​ciationList·​count="3">
60537 ········​<DisorderDisorderAsso​ciation>
60538 ··········​<TargetDisorder·​id="641"·​cycle="true"/​>
60539 ··········​<RootDisorder·​id="11904">
60540 ············​<OrphaCode>89839</​OrphaCode>
60541 ············​<Name·​lang="en">OBSOLETE:​·​Epidermolysis·​bullosa·​simplex·​superficialis</​Name>
60542 ··········​</​RootDisorder>
60543 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
60544 ············​<Name·​lang="en">Referred·​to</​Name>
60545 ··········​</​DisorderDisorderAssoc​iationType>
60546 ········​</​DisorderDisorderAssoc​iation>
60523 ········​<DisorderDisorderAsso​ciation>60547 ········​<DisorderDisorderAsso​ciation>
60524 ··········​<TargetDisorder·​id="641"·​cycle="true"/​>60548 ··········​<TargetDisorder·​id="641"·​cycle="true"/​>
60525 ··········​<RootDisorder·​id="17230">60549 ··········​<RootDisorder·​id="17230">
60530 ············​<Name·​lang="en">Referred·​to</​Name>60554 ············​<Name·​lang="en">Referred·​to</​Name>
60531 ··········​</​DisorderDisorderAssoc​iationType>60555 ··········​</​DisorderDisorderAssoc​iationType>
60532 ········​</​DisorderDisorderAssoc​iation>60556 ········​</​DisorderDisorderAssoc​iation>
60557 ········​<DisorderDisorderAsso​ciation>
60558 ··········​<TargetDisorder·​id="641"·​cycle="true"/​>
60559 ··········​<RootDisorder·​id="17231">
60560 ············​<OrphaCode>158665</​OrphaCode>
60561 ············​<Name·​lang="en">OBSOLETE:​·​Basal·​epidermolysis·​bullosa·​simplex</​Name>
60562 ··········​</​RootDisorder>
60563 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
60564 ············​<Name·​lang="en">Referred·​to</​Name>
60565 ··········​</​DisorderDisorderAssoc​iationType>
60566 ········​</​DisorderDisorderAssoc​iation>
60533 ······​</​DisorderDisorderAssoc​iationList>60567 ······​</​DisorderDisorderAssoc​iationList>
60534 ······​<SummaryInformationLi​st·​count="1">60568 ······​<SummaryInformationLi​st·​count="1">
60535 ········​<SummaryInformation·​id="2784"·​lang="en">60569 ········​<SummaryInformation·​id="2784"·​lang="en">
70747 ······​</​ExternalReferenceList​>70781 ······​</​ExternalReferenceList​>
70748 ······​<DisorderDisorderAsso​ciationList·​count="0">70782 ······​<DisorderDisorderAsso​ciationList·​count="0">
70749 ······​</​DisorderDisorderAssoc​iationList>70783 ······​</​DisorderDisorderAssoc​iationList>
70750 ······​<SummaryInformationLi​st·​count="0">70784 ······​<SummaryInformationLi​st·​count="1">
70785 ········​<SummaryInformation·​id="123533"·​lang="en">
70786 ··········​<TextSectionList·​count="1">
70787 ············​<TextSection·​id="160916"·​lang="en">
70788 ··············​<TextSectionType·​id="16907">
70789 ················​<Name·​lang="en">Definition<​/​Name>
70790 ··············​</​TextSectionType>
70791 ··············​<Contents>A·​rare·​larynx·​anomaly·​characterized·​by·​complete·​absence·​of·​the·​laryngeal·​lumen·​resulting·​in·​congenital·​upper·​airway·​obstruction·​syndrome·​which,​·​without·​fetal·​or·​neonatal·​intervention,​·​is·​incompatible·​with·​life.​·​Fetal·​sonography·​shows·​a·​dilated·​trachea,​·​hyperechoic·​lungs,​·​pleural·​effusion,​·​minimal·​fetal·​abdominal·​ascites·​or·​hydrops,​·​and·​amniotic·​fluid·​abnormalities.​</​Contents>
70792 ············​</​TextSection>
70793 ··········​</​TextSectionList>
70794 ········​</​SummaryInformation>
70751 ······​</​SummaryInformationLis​t>70795 ······​</​SummaryInformationLis​t>
70752 ····​</​Disorder>70796 ····​</​Disorder>
70753 ····​<Disorder·​id="724">70797 ····​<Disorder·​id="724">
71860 ··············​<TextSectionType·​id="16907">71904 ··············​<TextSectionType·​id="16907">
71861 ················​<Name·​lang="en">Definition<​/​Name>71905 ················​<Name·​lang="en">Definition<​/​Name>
71862 ··············​</​TextSectionType>71906 ··············​</​TextSectionType>
71863 ··············​<Contents>Tricuspid·atresia·is·(TA)​·a·​rare·​congenital·​heart·​malformation·​characterized·​by·​the·​congenital·agenesis·​of·​tricuspid·​valve·​leading·​to·​severe·​hypoplasia·​of·​right·​ventricle·​(functionally·​univentricular)​.​·​TA·​is·​associated·​with·​normally·​related·or·​transposed·great·vessels·(TGV,​·see·this·term)​,​·​an·​obligatory·​interatrial·​connection·​that·​is·​crucial·​for·​survival·​(patent·foramen·ovale·​or·​atrial·​septal·​defect,​·​osteum·​secondum·​type)​,​·​ventricular·​septal·​defect·​(in·90%·cases)​,​·​pulmonary·​outflow·​obstruction·-​·pulmonary·​atresia,​·​stenosis·​or·​hypoplasia·(usually·in·TA·with·normally·related·vessels·but·also·in·TGV)​,​·​aortic·​coarctation·​and/​or·​aortic·​arch·​interruption·(usually·in·TA·with·TGV)​(see·these·terms)​.​</​Contents>71907 ··············​<Contents>A·​rare·​congenital·​heart·​malformation·​characterized·​by·absence·of·​the·tricuspid·valuvar·annulus·(absent·right·atrioventricular·connection/​junction)​·​or·an·imperforate·​tricuspid·​valve·​leading·​to·​severe·​hypoplasia·​of·​right·​ventricle·​(functionally·​univentricular·heart)​.​·​The·malformation·​is·​associated·​with·​normally·​related·great·arteries·(70·to·80%·of·cases)​·or·transposed·great·vessels,​·​an·​obligatory·​interatrial·​connection·​that·​is·​crucial·​for·​survival·​(patent·​oval·foramen·​or·​atrial·​septal·​defect·​ostium·​secundum·​type)​,​·​ventricular·​septal·​defect·​(VSD)​,​·​pulmonary·​outflow·​obstruction·(pulmonary·​atresia,​·​stenosis·​or·​hypoplasia)​,​·​aortic·​coarctation·​and/​or·​aortic·​arch·​interruption.​</​Contents>
71864 ············​</​TextSection>71908 ············​</​TextSection>
71865 ··········​</​TextSectionList>71909 ··········​</​TextSectionList>
71866 ········​</​SummaryInformation>71910 ········​</​SummaryInformation>
82565 ······​<DisorderGroup·​id="36547">82609 ······​<DisorderGroup·​id="36547">
82566 ········​<Name·​lang="en">Disorder</​Name>82610 ········​<Name·​lang="en">Disorder</​Name>
82567 ······​</​DisorderGroup>82611 ······​</​DisorderGroup>
82568 ······​<ExternalReferenceLis​t·​count="5">82612 ······​<ExternalReferenceLis​t·​count="9">
82569 ········​<ExternalReference·​id="179637">82613 ········​<ExternalReference·​id="187700">
82570 ··········​<Source>ICD-​10</​Source>82614 ··········​<Source>ICD-​10</​Source>
82571 ··········​<Reference>A16.​9</​Reference>82615 ··········​<Reference>A17</​Reference>
82572 ··········​<DisorderMappingRelat​ion·​id="21534">82616 ··········​<DisorderMappingRelat​ion·​id="21541">
82573 ············​<Name·​lang="en">NTBT·​(ORPHA·​code's·Narrower·​Term·​maps·​to·​a·Broader·​Term)​</​Name>82617 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·Broader·​Term·​maps·​to·​a·Narrower·​Term)​</​Name>
82574 ··········​</​DisorderMappingRelati​on>82618 ··········​</​DisorderMappingRelati​on>
82575 ··········​<DisorderMappingICDRe​lation·​id="21604">82619 ··········​<DisorderMappingICDRe​lation·​id="21604">
82576 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>82620 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
82577 ··········​</​DisorderMappingICDRel​ation>82621 ··········​</​DisorderMappingICDRel​ation>
82578 ··········​<DisorderMappingValid​ationStatus·​id="21618">82622 ··········​<DisorderMappingValid​ationStatus·​id="21611">
82579 ············​<Name·​lang="en">Not·yet·validated</​Name>82623 ············​<Name·​lang="en">Validated</​Name>
82624 ··········​</​DisorderMappingValida​tionStatus>
82625 ········​</​ExternalReference>
82626 ········​<ExternalReference·​id="187699">
82627 ··········​<Source>ICD-​10</​Source>
82628 ··········​<Reference>A16</​Reference>
82629 ··········​<DisorderMappingRelat​ion·​id="21541">
82630 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
82631 ··········​</​DisorderMappingRelati​on>
82632 ··········​<DisorderMappingICDRe​lation·​id="21604">
82633 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
82634 ··········​</​DisorderMappingICDRel​ation>
82635 ··········​<DisorderMappingValid​ationStatus·​id="21611">
82636 ············​<Name·​lang="en">Validated</​Name>
82637 ··········​</​DisorderMappingValida​tionStatus>
82638 ········​</​ExternalReference>
82639 ········​<ExternalReference·​id="187701">
82640 ··········​<Source>ICD-​10</​Source>
82641 ··········​<Reference>A18</​Reference>
82642 ··········​<DisorderMappingRelat​ion·​id="21541">
82643 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
82644 ··········​</​DisorderMappingRelati​on>
82645 ··········​<DisorderMappingICDRe​lation·​id="21604">
82646 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
82647 ··········​</​DisorderMappingICDRel​ation>
82648 ··········​<DisorderMappingValid​ationStatus·​id="21611">
82649 ············​<Name·​lang="en">Validated</​Name>
82650 ··········​</​DisorderMappingValida​tionStatus>
82651 ········​</​ExternalReference>
82652 ········​<ExternalReference·​id="187702">
82653 ··········​<Source>ICD-​10</​Source>
82654 ··········​<Reference>A19</​Reference>
82655 ··········​<DisorderMappingRelat​ion·​id="21541">
82656 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
82657 ··········​</​DisorderMappingRelati​on>
82658 ··········​<DisorderMappingICDRe​lation·​id="21604">
82659 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
82660 ··········​</​DisorderMappingICDRel​ation>
82661 ··········​<DisorderMappingValid​ationStatus·​id="21611">
82662 ············​<Name·​lang="en">Validated</​Name>
82663 ··········​</​DisorderMappingValida​tionStatus>
82664 ········​</​ExternalReference>
82665 ········​<ExternalReference·​id="187698">
82666 ··········​<Source>ICD-​10</​Source>
82667 ··········​<Reference>A15</​Reference>
82668 ··········​<DisorderMappingRelat​ion·​id="21541">
82669 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
82670 ··········​</​DisorderMappingRelati​on>
82671 ··········​<DisorderMappingICDRe​lation·​id="21604">
82672 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
82673 ··········​</​DisorderMappingICDRel​ation>
82674 ··········​<DisorderMappingValid​ationStatus·​id="21611">
82675 ············​<Name·​lang="en">Validated</​Name>
82580 ··········​</​DisorderMappingValida​tionStatus>82676 ··········​</​DisorderMappingValida​tionStatus>
82581 ········​</​ExternalReference>82677 ········​</​ExternalReference>
82582 ········​<ExternalReference·​id="107348">82678 ········​<ExternalReference·​id="107348">
85151 ··············​<TextSectionType·​id="16907">85247 ··············​<TextSectionType·​id="16907">
85152 ················​<Name·​lang="en">Definition<​/​Name>85248 ················​<Name·​lang="en">Definition<​/​Name>
85153 ··············​</​TextSectionType>85249 ··············​</​TextSectionType>
85154 ··············​<Contents>Seckel·syndrome·is·a·type·​of·​microcephalic·​primordial·​dwarfism·that·is·​characterized·​by·​a·​proportionate·​dwarfism·​of·​prenatal·​onset,​·​a·​severe·​microcephaly,​·​a·​typical·​dysmorphic·​face·​(bird-​like)​,​·​and·​mild·​to·​severe·​intellectual·​disability.​</​Contents>85250 ··············​<Contents>A·​rare·form·​of·​microcephalic·​primordial·​dwarfism·​characterized·​by·​a·​proportionate·​dwarfism·​of·​prenatal·​onset,​·​a·​severe·​microcephaly,​·​a·​typical·​dysmorphic·​face·​(bird-​like)​,​·​and·​mild·​to·​severe·​intellectual·​disability.​</​Contents>
85155 ············​</​TextSection>85251 ············​</​TextSection>
85156 ··········​</​TextSectionList>85252 ··········​</​TextSectionList>
85157 ········​</​SummaryInformation>85253 ········​</​SummaryInformation>
105116 ··············​<TextSectionType·​id="16907">105212 ··············​<TextSectionType·​id="16907">
105117 ················​<Name·​lang="en">Definition<​/​Name>105213 ················​<Name·​lang="en">Definition<​/​Name>
105118 ··············​</​TextSectionType>105214 ··············​</​TextSectionType>
105119 ··············​<Contents>A·disorder·characterised·by·the·​association·of·cerebral·and·cutaneous·​angiomatous·​lesions.​·It·has·been·described·in·less·than·10·families.​·Clinical·manifestations·​of·​the·​cerebral·lesions·include·epilepsy,​·cerebral·haemorrhage,​·and·focal·​neurological·​deficit.​·Transmission·​is·autosomal·dominant.​</​Contents>105215 ··············​<Contents>A·rare·genetic·vascular·​anomaly·characterized·by·the·presence·of·​angiomatous·​lesions·​affecting·the·skin,​·brain,​·and·spinal·cord.​·Lesions·​of·​the·​central·nervous·system·have·a·marked·tendency·to·bleed.​·There·have·been·​no·further·​descriptions·in·the·literature·since·1988.​</​Contents>
105120 ············​</​TextSection>105216 ············​</​TextSection>
105121 ··········​</​TextSectionList>105217 ··········​</​TextSectionList>
105122 ········​</​SummaryInformation>105218 ········​</​SummaryInformation>
105763 ··············​<TextSectionType·​id="16907">105859 ··············​<TextSectionType·​id="16907">
105764 ················​<Name·​lang="en">Definition<​/​Name>105860 ················​<Name·​lang="en">Definition<​/​Name>
105765 ··············​</​TextSectionType>105861 ··············​</​TextSectionType>
105766 ··············​<Contents>Metaphyseal​·anadysplasia·is·a·very·​rare·​form·​of·​metaphyseal·​dysplasia·​characterized·​by·​short·​stature,​·​rhizomelic·​micromelia·​and·​a·​mild·​varus·​deformity·​of·​the·​legs·​evident·​from·​the·​first·​months·​of·​life,​·​that·​is·​associated·​with·​radiological·​features·​of·​severe·​metaphyseal·​changes·​(irregularities,​·​widening·​and·​marginal·​blurring)​·​in·​long·​bones,​·​most·​prominent·​in·​proximal·​femurs,​·​and·​generalized·​osteopenia,​·​and·​that·​usually·​spontaneously·​resolves·​by·​the·​age·​of·​three·​years.​·​Severe·​autosomal·​dominant·​and·​milder·​recessive·​variants·​have·​been·​observed.​</​Contents>105862 ··············​<Contents>A·​rare·​form·​of·​metaphyseal·​dysplasia·​characterized·​by·​short·​stature,​·​rhizomelic·​micromelia·​and·​a·​mild·​varus·​deformity·​of·​the·​legs·​evident·​from·​the·​first·​months·​of·​life,​·​that·​is·​associated·​with·​radiological·​features·​of·​severe·​metaphyseal·​changes·​(irregularities,​·​widening·​and·​marginal·​blurring)​·​in·​long·​bones,​·​most·​prominent·​in·​proximal·​femurs,​·​and·​generalized·​osteopenia,​·​and·​that·​usually·​spontaneously·​resolves·​by·​the·​age·​of·​three·​years.​·​Severe·​autosomal·​dominant·​and·​milder·​recessive·​variants·​have·​been·​observed.​</​Contents>
105767 ············​</​TextSection>105863 ············​</​TextSection>
105768 ··········​</​TextSectionList>105864 ··········​</​TextSectionList>
105769 ········​</​SummaryInformation>105865 ········​</​SummaryInformation>
109901 ··········​</​DisorderMappingValida​tionStatus>109997 ··········​</​DisorderMappingValida​tionStatus>
109902 ········​</​ExternalReference>109998 ········​</​ExternalReference>
109903 ······​</​ExternalReferenceList​>109999 ······​</​ExternalReferenceList​>
109904 ······​<DisorderDisorderAsso​ciationList·​count="0">110000 ······​<DisorderDisorderAsso​ciationList·​count="1">
110001 ········​<DisorderDisorderAsso​ciation>
110002 ··········​<TargetDisorder·​id="16890"·​cycle="true"/​>
110003 ··········​<RootDisorder·​id="16891">
110004 ············​<OrphaCode>139420</​OrphaCode>
110005 ············​<Name·​lang="en">OBSOLETE:​·​Secondary·​acute·​transverse·​myelitis</​Name>
110006 ··········​</​RootDisorder>
110007 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
110008 ············​<Name·​lang="en">Referred·​to</​Name>
110009 ··········​</​DisorderDisorderAssoc​iationType>
110010 ········​</​DisorderDisorderAssoc​iation>
109905 ······​</​DisorderDisorderAssoc​iationList>110011 ······​</​DisorderDisorderAssoc​iationList>
109906 ······​<SummaryInformationLi​st·​count="1">110012 ······​<SummaryInformationLi​st·​count="1">
109907 ········​<SummaryInformation·​id="60433"·​lang="en">110013 ········​<SummaryInformation·​id="60433"·​lang="en">
110024 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=139420</​ExpertLink>110130 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=139420</​ExpertLink>
110025 ······​<Name·​lang="en">OBSOLETE:​·​Secondary·​acute·​transverse·​myelitis</​Name>110131 ······​<Name·​lang="en">OBSOLETE:​·​Secondary·​acute·​transverse·​myelitis</​Name>
110026 ······​<DisorderFlagList·​count="1">110132 ······​<DisorderFlagList·​count="1">
110027 ········​<DisorderFlag·​id="461">110133 ········​<DisorderFlag·​id="455">
110028 ··········​<Value>1024</​Value>110134 ··········​<Value>16</​Value>
110029 ··········​<Label>Obsolete·with·resources</​Label>110135 ··········​<Label>Obsolete·​entity</​Label>
110030 ········​</​DisorderFlag>110136 ········​</​DisorderFlag>
110031 ······​</​DisorderFlagList>110137 ······​</​DisorderFlagList>
110032 ······​<SynonymList·​count="1">110138 ······​<SynonymList·​count="1">
110040 ······​</​DisorderGroup>110146 ······​</​DisorderGroup>
110041 ······​<ExternalReferenceLis​t·​count="0">110147 ······​<ExternalReferenceLis​t·​count="0">
110042 ······​</​ExternalReferenceList​>110148 ······​</​ExternalReferenceList​>
110043 ······​<DisorderDisorderAsso​ciationList·​count="0">110149 ······​<DisorderDisorderAsso​ciationList·​count="1">
110150 ········​<DisorderDisorderAsso​ciation>
110151 ··········​<TargetDisorder·​id="16890">
110152 ············​<OrphaCode>139417</​OrphaCode>
110153 ············​<Name·​lang="en">Acute·​transverse·​myelitis</​Name>
110154 ··········​</​TargetDisorder>
110155 ··········​<RootDisorder·​id="16891"·​cycle="true"/​>
110156 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
110157 ············​<Name·​lang="en">Referred·​to</​Name>
110158 ··········​</​DisorderDisorderAssoc​iationType>
110159 ········​</​DisorderDisorderAssoc​iation>
110044 ······​</​DisorderDisorderAssoc​iationList>110160 ······​</​DisorderDisorderAssoc​iationList>
110045 ······​<SummaryInformationLi​st·​count="0">110161 ······​<SummaryInformationLi​st·​count="0">
110046 ······​</​SummaryInformationLis​t>110162 ······​</​SummaryInformationLis​t>
115057 ········​<Name·​lang="en">Disorder</​Name>115173 ········​<Name·​lang="en">Disorder</​Name>
115058 ······​</​DisorderGroup>115174 ······​</​DisorderGroup>
115059 ······​<ExternalReferenceLis​t·​count="2">115175 ······​<ExternalReferenceLis​t·​count="2">
115060 ········​<ExternalReference·​id="171777">115176 ········​<ExternalReference·​id="187712">
115061 ··········​<Source>ICD-​10</​Source>115177 ··········​<Source>ICD-​10</​Source>
115062 ··········​<Reference>P91.​6</​Reference>115178 ··········​<Reference>P91.​6</​Reference>
115063 ··········​<DisorderMappingRelat​ion·​id="21527">115179 ··········​<DisorderMappingRelat​ion·​id="21527">
115066 ··········​<DisorderMappingICDRe​lation·​id="21583">115182 ··········​<DisorderMappingICDRe​lation·​id="21583">
115067 ············​<Name·​lang="en">Specific·​code·​(The·​ORPHA·​code·​has·​its·​own·​code·​in·​the·​ICD10)​</​Name>115183 ············​<Name·​lang="en">Specific·​code·​(The·​ORPHA·​code·​has·​its·​own·​code·​in·​the·​ICD10)​</​Name>
115068 ··········​</​DisorderMappingICDRel​ation>115184 ··········​</​DisorderMappingICDRel​ation>
115069 ··········​<DisorderMappingValid​ationStatus·​id="21618">115185 ··········​<DisorderMappingValid​ationStatus·​id="21611">
115070 ············​<Name·​lang="en">Not·yet·validated</​Name>115186 ············​<Name·​lang="en">Validated</​Name>
115071 ··········​</​DisorderMappingValida​tionStatus>115187 ··········​</​DisorderMappingValida​tionStatus>
115072 ········​</​ExternalReference>115188 ········​</​ExternalReference>
115073 ········​<ExternalReference·​id="138811">115189 ········​<ExternalReference·​id="138811">
121040 ··············​<TextSectionType·​id="16907">121156 ··············​<TextSectionType·​id="16907">
121041 ················​<Name·​lang="en">Definition<​/​Name>121157 ················​<Name·​lang="en">Definition<​/​Name>
121042 ··············​</​TextSectionType>121158 ··············​</​TextSectionType>
121043 ··············​<Contents>A·​rare·​syndrome·characterised·by·moderate·to·severe·​intellectual·​deficit,​·​short·​stature,​·macrocephaly,​·and·​characteristic·facies.​·It·has·been·​described·in·11·males·and·three·females·from·​three·​successive·generations·​of·the·same·family.​·The·males·also·presented·with·​postpubertal·​macroorchidism.​·Transmission·​is·X-​linked.​</​Contents>121159 ··············​<Contents>A·​rare·X-​linked·​syndromic·intellectual·disability·characterized·by·variable·​intellectual·​deficit,​·macrocephaly,​·​short·​stature,​·​and·facial·dysmorphism·(such·as·prominent·forehead,​·prominent·supraorbital·ridges,​·hypertelorism,​·downslanting·palpebral·fissures,​·broad·nasal·tip,​·anteverted·nostrils,​·thick·lower·lip,​·and·localized·microdontia)​.​·Additional·reported·features·include·seizures,​·​post-​pubertal·​macroorchidism,​·obesity,​·and·short,​·broad·hands·with·tapered·fingers.​</​Contents>
121044 ············​</​TextSection>121160 ············​</​TextSection>
121045 ··········​</​TextSectionList>121161 ··········​</​TextSectionList>
121046 ········​</​SummaryInformation>121162 ········​</​SummaryInformation>
124209 ······​</​ExternalReferenceList​>124325 ······​</​ExternalReferenceList​>
124210 ······​<DisorderDisorderAsso​ciationList·​count="0">124326 ······​<DisorderDisorderAsso​ciationList·​count="0">
124211 ······​</​DisorderDisorderAssoc​iationList>124327 ······​</​DisorderDisorderAssoc​iationList>
124212 ······​<SummaryInformationLi​st·​count="0">124328 ······​<SummaryInformationLi​st·​count="1">
124329 ········​<SummaryInformation·​id="123537"·​lang="en">
124330 ··········​<TextSectionList·​count="1">
124331 ············​<TextSection·​id="160918"·​lang="en">
124332 ··············​<TextSectionType·​id="16907">
124333 ················​<Name·​lang="en">Definition<​/​Name>
124334 ··············​</​TextSectionType>
124335 ··············​<Contents>A·​rare·​lateral·​facial·​cleft·​characterized·​by·​a·​temporo-​zygomatic·​defect,​·​usually·​with·​absence·​of·​the·​zygomatic·​arch·​and·​deformities·​of·​the·​mandibular·​ramus,​·​condyle,​·​and·​coronoid·​process.​·​Associated·​soft·​tissue·​abnormalities·​include·​malformations·​of·​the·​ear·​and·​hypoplasia·​or·​absence·​of·​the·​temporal·​muscle.​·​Preauricular·​hair·​may·​be·​absent·​or·​divided·​into·​two·​portions.​·​Facial·​manifestations·​include·​macrostomia·​(with·​extension·​of·​the·​cleft·​to·​the·​corner·​of·​the·​mouth)​·​and·​pre-​auricular·​tags.​·​Incomplete·​clefts·​may·​be·​found·​in·​the·​molar·​region·​and·​between·​the·​maxillary·​tuberosity·​and·​pterygoid·​process.​</​Contents>
124336 ············​</​TextSection>
124337 ··········​</​TextSectionList>
124338 ········​</​SummaryInformation>
124213 ······​</​SummaryInformationLis​t>124339 ······​</​SummaryInformationLis​t>
124214 ····​</​Disorder>124340 ····​</​Disorder>
124215 ····​<Disorder·​id="17072">124341 ····​<Disorder·​id="17072">
124247 ······​</​ExternalReferenceList​>124373 ······​</​ExternalReferenceList​>
124248 ······​<DisorderDisorderAsso​ciationList·​count="0">124374 ······​<DisorderDisorderAsso​ciationList·​count="0">
124249 ······​</​DisorderDisorderAssoc​iationList>124375 ······​</​DisorderDisorderAssoc​iationList>
124250 ······​<SummaryInformationLi​st·​count="0">124376 ······​<SummaryInformationLi​st·​count="1">
124377 ········​<SummaryInformation·​id="123540"·​lang="en">
124378 ··········​<TextSectionList·​count="1">
124379 ············​<TextSection·​id="160921"·​lang="en">
124380 ··············​<TextSectionType·​id="16907">
124381 ················​<Name·​lang="en">Definition<​/​Name>
124382 ··············​</​TextSectionType>
124383 ··············​<Contents>A·​rare·​oblique·​facial·​cleft·​characterized·​by·​a·​defect·​between·​the·​maxilla·​and·​the·​zygomatic·​bone,​·​opening·​into·​the·​infra-​orbital·​fissure,​·​accompanied·​by·​coloboma·​of·​the·​lower·​eyelid·​and·​a·​vertical·​furrow·​on·​the·​cheek·​oriented·​either·​laterally·​to·​the·​corner·​of·​the·​mouth·​or·​in·​the·​direction·​of·​the·​angle·​of·​the·​mandible.​·​The·​posterior·​aspect·​of·​the·​maxilla·​is·​short·​with·​a·​high·​palate·​and·​choanal·​atresia.​·​The·​malformation·​is·​typically·​associated·​with·​Treacher-​Collins·​syndrome.​</​Contents>
124384 ············​</​TextSection>
124385 ··········​</​TextSectionList>
124386 ········​</​SummaryInformation>
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128609 ················​<Name·​lang="en">Definition<​/​Name>128745 ················​<Name·​lang="en">Definition<​/​Name>
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128611 ··············​<Contents>Carnosinemi​a·is·​a·very·​rare·​inherited·disorder·​that·​presents·​with·​serum·​carnosinase·​deficiency.​</​Contents>128747 ··············​<Contents>A·rare·inborn·error·of·metabolism·characterized·by·low·serum·carnosinase·activity,​·persistent·carnosinuria,​·and·carnosinemia.​·The·clinical·phenotype·is·highly·variable,​·with·some·​patients·remaining·asymptomatic,​·​while·others