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- NCIT_C126560 IAO_0000115 "A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement." @default.
- NCIT_C126560 NCIT_NHC0 "C126560" @default.
- NCIT_C126560 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126560 NCIT_P108 "Leri-Weill Dyschondrosteosis" @default.
- NCIT_C126560 NCIT_P207 "C0265309" @default.
- NCIT_C126560 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126560 NCIT_P322 "NICHD" @default.
- NCIT_C126560 NCIT_P325 "SHOX deficiency caused by heterozygous mutation(s) in the SHOX gene. This condition is characterized by short stature, mesomelia (shortening of radius/ulna and tibia/fibula), and Madelung (dinner fork) deformity of the distal forearm and wrist." @default.
- NCIT_C126560 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126560 NCIT_R176 NCIT_C20917 @default.
- NCIT_C126560 NCIT_R176 NCIT_C75403 @default.
- NCIT_C126560 normalizedInformationContent "100" @default.
- NCIT_C126560 referenceCount "1" @default.
- NCIT_C126560 hasExactSynonym "Dyschondrosteosis" @default.
- NCIT_C126560 hasExactSynonym "Leri-Weill Dyschondrosteosis" @default.
- NCIT_C126560 hasExactSynonym "Leri-Weill Syndrome" @default.
- NCIT_C126560 inSubset NCIT_C118467 @default.
- NCIT_C126560 inSubset NCIT_C165258 @default.
- NCIT_C126560 inSubset NCIT_C192842 @default.
- NCIT_C126560 inSubset NCIT_C90259 @default.
- NCIT_C126560 type Class @default.
- NCIT_C126560 isDefinedBy ncit.owl @default.
- NCIT_C126560 label "Leri-Weill Dyschondrosteosis" @default.
- NCIT_C126560 subClassOf B7f318e26d25c7777a298785893e1629d @default.
- NCIT_C126560 subClassOf B843067c43923f0a33a1f4bded3aafc60 @default.
- NCIT_C126560 subClassOf NCIT_C126560 @default.
- NCIT_C126560 subClassOf NCIT_C2991 @default.
- NCIT_C126560 subClassOf NCIT_C4873 @default.
- NCIT_C126560 subClassOf NCIT_C53529 @default.
- NCIT_C126560 subClassOf NCIT_C53543 @default.
- NCIT_C126560 subClassOf NCIT_C53547 @default.
- NCIT_C126560 subClassOf NCIT_C7057 @default.