About: Myhre syndrome

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Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720
rdfs:label	متلازمة ماير (ar) Myhre-Syndrom (de) Myhre syndrome (en)
rdfs:comment	متلازمة ماير هو اضطراب وراثي نادر يورث بصورة سائدة. وهو ناتج عن طفرة في جين SMAD4. (ar) Das Myhre-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Minderwuchs, muskulärem Körperbau, Bewegungseinschränkung, Hörverlust und geistiger Retardierung. Synonyme sind: LAPS-Syndrom, Akronym für Laryngotrachealstenose, Arthropathie, Prognathie und Kleinwuchs (Short stature); Growth-mental Deficiency Syndrome of Myhre. Die Bezeichnung bezieht sich auf die Erstautorin Selma A. Myhre der Beschreibung von 1981. Das Syndrom ist nicht zu verwechseln mit dem Ruvalcaba-Myhre-Smith-Syndrom. (de) Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. (en)
foaf:depiction
dcterms:subject	Syndromes with musculoskeletal abnormalities Rare genetic syndromes Syndromes affecting the heart Syndromes with craniofacial abnormalities Syndromes with short stature Syndromes with dysmelia Rare syndromes Syndromes affecting hearing
Wikipage page ID	42454990 (xsd:integer)
Wikipage revision ID	1053097411 (xsd:integer)
Link from a Wikipage to another Wikipage	Prognathism Pyloric stenosis Syndromes with musculoskeletal abnormalities Aortic stenosis Rare genetic syndromes Syndromes affecting the heart Syndromes with craniofacial abnormalities Syndromes with short stature Medical genetics Syndromes with dysmelia Rare syndromes Syndromes affecting hearing Blepharophimosis SMAD4
Link from a Wikipage to an external page	http://ghr.nlm.nih.gov/condition/myhre-syndrome
sameAs	Myhre syndrome Myhre syndrome Myhre syndrome Myhre syndrome Myhre syndrome Myhre syndrome Myhre syndrome
SNOMED CT	699316006 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:NLM_content
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
ICD	Q87.8 (en)
OMIM	139210 (xsd:integer)
Orphanet	2588 (xsd:integer)
caption	Myhre syndrome is inherited in an autosomal dominant manner (en)
field	Medical genetics
synonyms	Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome (en)
has abstract	متلازمة ماير هو اضطراب وراثي نادر يورث بصورة سائدة. وهو ناتج عن طفرة في جين SMAD4. (ar) Das Myhre-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Minderwuchs, muskulärem Körperbau, Bewegungseinschränkung, Hörverlust und geistiger Retardierung. Synonyme sind: LAPS-Syndrom, Akronym für Laryngotrachealstenose, Arthropathie, Prognathie und Kleinwuchs (Short stature); Growth-mental Deficiency Syndrome of Myhre. Die Bezeichnung bezieht sich auf die Erstautorin Selma A. Myhre der Beschreibung von 1981. Das Syndrom ist nicht zu verwechseln mit dem Ruvalcaba-Myhre-Smith-Syndrom. (de) Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:Myhre_syndrome?oldid=1053097411&ns=0
page length (characters) of wiki page	5444 (xsd:nonNegativeInteger)
ICD10	Q87.8
OMIM id	139210 (xsd:integer)
ORPHA	2588
foaf:isPrimaryTopicOf	wikipedia-en:Myhre_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (M) Myhre Dysmelia Acromicric dysplasia Genetic and Myhre syndrome dbr:Mothers_against_decapentaplegic_homolog_4 Myhre Ruvalcaba Graham syndrome
is Wikipage redirect of	Genetic and Myhre syndrome Myhre Ruvalcaba Graham syndrome
is Wikipage disambiguates of	Myhre
is foaf:primaryTopic of	wikipedia-en:Myhre_syndrome

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