About: GAPO syndrome

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GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	GAPO-Syndrom (de) GAPO syndrome (en)
rdfs:comment	Das GAPO-Syndrom, Akronym für Growth Retardation (Wachstumsverzögerung), Alopezie, Pseudoanodontie (ausbleibender Durchbruch der Zahnanlagen) und Optikusatrophie, ist eine sehr seltene angeborene Erkrankung. Die Erstbeschreibung erfolgte im Jahre 1984 durch R. E. Tipton und Robert James Gorlin (1923–2006). (de) GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis. (en)
foaf:name	GAPO syndrome (en)
name	GAPO syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare syndromes Genetic disorders with OMIM but no gene Syndromes affecting stature
Wikipage page ID	4112582 (xsd:integer)
Wikipage revision ID	1090023177 (xsd:integer)
Link from a Wikipage to another Wikipage	Myopia Alopecia Corrective lens Corticosteroid Nonsense mutation RNA splicing Autosomal recessive disorders Progeroid syndromes Autosomal recessive Actin Exons Cell adhesion Chromosome 2 Rare syndromes Atherosclerosis ANTXR1 Genetic disorders with OMIM but no gene Syndromes affecting stature Fibrosis Extracellular matrix Optic atrophy
sameAs	GAPO syndrome GAPO syndrome GAPO syndrome GAPO syndrome GAPO syndrome GAPO syndrome GAPO syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:RareDiseases
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
ICD	Q87.8 (en)
MeshID	535642.0 (nicaraguanCórdoba)
OMIM	230740 (xsd:integer)
Orphanet	2067 (xsd:integer)
caption	Autosomal recessive pattern is the inheritance manner of this condition (en)
frequency	< 1 per million (en)
has abstract	Das GAPO-Syndrom, Akronym für Growth Retardation (Wachstumsverzögerung), Alopezie, Pseudoanodontie (ausbleibender Durchbruch der Zahnanlagen) und Optikusatrophie, ist eine sehr seltene angeborene Erkrankung. Die Erstbeschreibung erfolgte im Jahre 1984 durch R. E. Tipton und Robert James Gorlin (1923–2006). (de) GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alopecia, pseudoanodontia (teeth failing to emerge from the gums), and worsening optic atrophy in some subjects. Other common symptoms include premature aging, large, prominent foreheads, and delayed bone aging. GAPO syndrome typically results in premature death around age 30–40, due to interstitial fibrosis and atherosclerosis. (en)
MeSH ID	C535642
prov:wasDerivedFrom	wikipedia-en:GAPO_syndrome?oldid=1090023177&ns=0
page length (characters) of wiki page	8416 (xsd:nonNegativeInteger)
ICD10	Q87.8
OMIM id	230740 (xsd:integer)
ORPHA	2067
foaf:isPrimaryTopicOf	wikipedia-en:GAPO_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (G) Failure of eruption of teeth List of syndromes
is foaf:primaryTopic of	wikipedia-en:GAPO_syndrome

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