About: thanatophoric dysplasia     Goto   Sponge   NotDistinct   Permalink

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osteochondrodysplasia that results in short arms and legs with excess folds of skin

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • хвороба (uk)
  • rara enfermedad de origen genético que afecta al desarrollo del esqueleto (es)
  • osteochondrodysplasia that results in short arms and legs with excess folds of skin (en)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0017042
DiseasesDB
  • 29403
Disease Ontology ID
  • DOID:13481
rdfs:label
  • ตัวเตี้ยแบบไม่สามารถรอดชีวิตได้ (th)
  • Displasia tanatofora (it)
  • Displasia tanatofórica (pt)
  • Dysplazja śmiertelna (pl)
  • Tanatoforinen dysplasia (fi)
  • Tanatoforna displazija (bs)
  • enanismo tanatofórico (es)
  • nanisme thanatophore (fr)
  • thanatophore Dysplasie (de)
  • thanatophoric dysplasia (en)
skos:prefLabel
  • ตัวเตี้ยแบบไม่สามารถรอดชีวิตได้ (th)
  • Displasia tanatofora (it)
  • Displasia tanatofórica (pt)
  • Dysplazja śmiertelna (pl)
  • Tanatoforinen dysplasia (fi)
  • Tanatoforna displazija (bs)
  • enanismo tanatofórico (es)
  • nanisme thanatophore (fr)
  • thanatophore Dysplasie (de)
  • thanatophoric dysplasia (en)
name
  • ตัวเตี้ยแบบไม่สามารถรอดชีวิตได้ (th)
  • Displasia tanatofora (it)
  • Displasia tanatofórica (pt)
  • Dysplazja śmiertelna (pl)
  • Tanatoforinen dysplasia (fi)
  • Tanatoforna displazija (bs)
  • enanismo tanatofórico (es)
  • nanisme thanatophore (fr)
  • thanatophore Dysplasie (de)
  • thanatophoric dysplasia (en)
Freebase ID
Freebase ID
  • /m/05jv3m
image
instance of
image
  • http://commons.wikimedia.org/wiki/Special:FilePath/Thanatophoric-dwarf-102.jpg
instance of
subclass of
subclass of
eMedicine ID
eMedicine ID
  • 949591
KEGG ID
KEGG ID
KEGG ID
  • H01750
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
Orphanet ID
  • 2655
  • 93274
  • 1860
  • 93275
ICD-9-CM
  • 259.4
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