About: spondylocostal dysostosis     Goto   Sponge   NotDistinct   Permalink

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A dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • хвороба (uk)
  • solunum yetmezliği, çoklu omurga ve kaburga anormallikleri ile kendini gösteren az rastlanan bir genetik bozukluk (tr)
  • A dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (en)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • Q76
Mondo ID
  • MONDO_0000359
DiseasesDB
  • 32639
Disease Ontology ID
  • DOID:0050568
rdfs:label
  • Disostosis espondilotorácica (es)
  • Jarcho-Levin sendromu (tr)
  • Spondylokostale Dysostose (de)
  • Zespół Jarcho-Levina (pl)
  • dysostose spondylo-costale (fr)
  • spondylocostal dysostosis (en)
  • خلل التعظم الفقري الضلعي (ar)
skos:prefLabel
  • Disostosis espondilotorácica (es)
  • Jarcho-Levin sendromu (tr)
  • Spondylokostale Dysostose (de)
  • Zespół Jarcho-Levina (pl)
  • dysostose spondylo-costale (fr)
  • spondylocostal dysostosis (en)
  • خلل التعظم الفقري الضلعي (ar)
name
  • Disostosis espondilotorácica (es)
  • Jarcho-Levin sendromu (tr)
  • Spondylokostale Dysostose (de)
  • Zespół Jarcho-Levina (pl)
  • dysostose spondylo-costale (fr)
  • spondylocostal dysostosis (en)
  • خلل التعظم الفقري الضلعي (ar)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H00517
Orphanet ID
genetic association
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
Orphanet ID
  • 2311
  • 1797
genetic association
PatientsLikeMe condition ID
  • jarcho-levin-syndrome
GARD rare disease ID
  • 6798
  • 12174
OMIM ID
  • 122600
  • 277300
  • 608681
  • 613686
  • 609813
Genetics Home Reference Conditions ID
  • spondylocostal-dysostosis
  • spondylothoracic-dysostosis
ICD-9 ID
ICD-9 ID
  • 756.9
skos:altLabel
  • Jarcho Levin sendromu (tr)
  • Jarcho-Levin syndrome (en)
  • Jarco-Levin sendromu (tr)
  • Zespół Jarcho i Levina (pl)
  • spondylocostal dysostosis, autosomal recessive 3 (en)
  • spondylothoracic dysostosis (en)
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