About: Platyspondylic lethal skeletal dysplasia, Torrance type

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Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis).

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatSkeletalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Platyspondylitische Dysplasie Typ Torrance (de) Platyspondylic lethal skeletal dysplasia, Torrance type (en)
rdfs:comment	Die Platyspondylitische Dysplasie Typ Torrance ist eine sehr seltene angeborene Skelettdysplasie mit dem Hauptmerkmal einer Platyspondylie. Synonyme sind: PLSD-T; Platyspondylitische Dysplasie Typ Torrance-Luton; Platyspondylitische Skelettdysplasie, letale, Typ Torrance; englisch Lethal Short-Limbed Latyspondylic Dwarfism, Torrance Type; Thanatophoric Dysplasia, Torrance Variant Abzugrenzen ist die Platyspondylitische Dysplasie Typ San-Diego, s. unter Thanatophore Dysplasie. (de) Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis). (en)
foaf:depiction
dcterms:subject	Autosomal dominant disorders Skeletal disorders
Wikipage page ID	4091222 (xsd:integer)
Wikipage revision ID	1117166973 (xsd:integer)
Link from a Wikipage to another Wikipage	Bone Vitreous humour Chondrocytes Brachydactyly Connective tissue Platyspondyly Autosomal dominant Autosomal dominant disorders Skeletal disorders Collagen Cartilage Lordosis Pelvic bone COL2A1
Link from a Wikipage to an external page	http://ghr.nlm.nih.gov
sameAs	Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia, Torrance type
dbp:wikiPageUsesTemplate	dbt:Medref dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Scleroprotein_disease
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
ICD	Q77.8 (en)
OMIM	151210 (xsd:integer)
Orphanet	85166 (xsd:integer)
caption	Platyspondylic lethal skeletal dysplasia, Torrance type is inherited in an autosomal dominant pattern. (en)
synonyms	Platyspondylic dysplasia, Torrance-Luton type (en)
has abstract	Die Platyspondylitische Dysplasie Typ Torrance ist eine sehr seltene angeborene Skelettdysplasie mit dem Hauptmerkmal einer Platyspondylie. Synonyme sind: PLSD-T; Platyspondylitische Dysplasie Typ Torrance-Luton; Platyspondylitische Skelettdysplasie, letale, Typ Torrance; englisch Lethal Short-Limbed Latyspondylic Dwarfism, Torrance Type; Thanatophoric Dysplasia, Torrance Variant Abzugrenzen ist die Platyspondylitische Dysplasie Typ San-Diego, s. unter Thanatophore Dysplasie. (de) Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, a small chest with short ribs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and abnormal curvature of the spine (lordosis). As a result of these serious skeletal problems, many infants with platyspondylic lethal skeletal dysplasia, Torrance type are born prematurely, are stillborn, or die shortly after birth from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type?oldid=1117166973&ns=0
page length (characters) of wiki page	3716 (xsd:nonNegativeInteger)
ICD10	Q77.8
OMIM id	151210 (xsd:integer)
ORPHA	85166
foaf:isPrimaryTopicOf	wikipedia-en:Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type
is Link from a Wikipage to another Wikipage of	dbr:Collagen,_type_II,_alpha_1 PLSD-T PLSD-TL Platyspondylic chondrodysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia Platyspondylic skeletal dysplasia, Torrance type
is Wikipage redirect of	PLSD-T PLSD-TL Platyspondylic chondrodysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia Platyspondylic skeletal dysplasia, Torrance type
is foaf:primaryTopic of	wikipedia-en:Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type

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