About: Opsismodysplasia

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Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation. In addition to this delay, the disorder is characterized by micromelia (short or undersized bones), particularly of the hands and feet, delay of ossification (bone cell formation), platyspondyly (flattened vertebrae), irregular metaphyses, an array of facial aberrations and respiratory distress related to chronic infection. Opsismodysplasia is congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatCongenitalDisorders yago:WikicatSkeletalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Condition113920835 yago:Defect114464005 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Opsismodysplasia (en)
rdfs:comment	Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation. In addition to this delay, the disorder is characterized by micromelia (short or undersized bones), particularly of the hands and feet, delay of ossification (bone cell formation), platyspondyly (flattened vertebrae), irregular metaphyses, an array of facial aberrations and respiratory distress related to chronic infection. Opsismodysplasia is congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is (en)
foaf:name	Opsismodysplasia (en)
name	Opsismodysplasia (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Congenital disorders Rare diseases Skeletal disorders
Wikipage page ID	31513765 (xsd:integer)
Wikipage revision ID	1048873818 (xsd:integer)
Link from a Wikipage to another Wikipage	Carpal bones Epiphyseal plate Carpal Rare disease Genetic carrier Greek language Ossification center Osteochondrodysplasia Platyspondyly Autosomal recessive disorders Tibia Locus (genetics) Femur Ossification Hand Vertebral column Respiratory tract infection Congenital disorders Rare diseases Tarsus (skeleton) Skeletal disorders Wrist Dominance (genetics) Autosome Bone age Metaphyses Cartilage Long bone Congenital abnormality Respiratory distress Radiograph dbr:Wikt:dysplasia dbr:Wikt:micromelia dbr:Spondylometaphyseal_dysplasia,_Sedaghatian_type
sameAs	Opsismodysplasia Opsismodysplasia Opsismodysplasia Opsismodysplasia
dbp:wikiPageUsesTemplate	dbt:Clear dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Osteochondrodysplasia
thumbnail	wiki-commons:Special:FilePath/Gray79.png?width=300
DiseasesDB	31936 (xsd:integer)
ICD	(en) Q77.8 (en)
MeshID	537122.0 (nicaraguanCórdoba)
OMIM	258480 (xsd:integer)
Orphanet	2746 (xsd:integer)
field	orthopedic (en)
synonyms	OPSMD (en)
has abstract	Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation. In addition to this delay, the disorder is characterized by micromelia (short or undersized bones), particularly of the hands and feet, delay of ossification (bone cell formation), platyspondyly (flattened vertebrae), irregular metaphyses, an array of facial aberrations and respiratory distress related to chronic infection. Opsismodysplasia is congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is rare, with an incidence of less than 1 per 1,000,000 worldwide. It is inherited in an autosomal recessive pattern, which means the defective (mutated) gene that causes the disorder is located on an autosome, and the disorder occurs when two copies of this defective gene are inherited. No specific gene has been found to be associated with the disorder. It is similar to . (en)
gold:hypernym	Dysplasia
MeSH ID	C537122
prov:wasDerivedFrom	wikipedia-en:Opsismodysplasia?oldid=1048873818&ns=0
page length (characters) of wiki page	11169 (xsd:nonNegativeInteger)
DiseasesDB	31936
ICD10	Q77.8
OMIM id	258480 (xsd:integer)
ORPHA	2746
foaf:isPrimaryTopicOf	wikipedia-en:Opsismodysplasia
is Link from a Wikipage to another Wikipage of	List of diseases (O)
is foaf:primaryTopic of	wikipedia-en:Opsismodysplasia

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