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- NCIT_C99099 IAO_0000115 "An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes." @default.
- NCIT_C99099 NCIT_NHC0 "C99099" @default.
- NCIT_C99099 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C99099 NCIT_P108 "Type I Acrocephalosyndactyly" @default.
- NCIT_C99099 NCIT_P207 "C0001193" @default.
- NCIT_C99099 NCIT_P322 "Cellosaurus" @default.
- NCIT_C99099 NCIT_P322 "NICHD" @default.
- NCIT_C99099 NCIT_R176 NCIT_C16612 @default.
- NCIT_C99099 NCIT_R176 NCIT_C19930 @default.
- NCIT_C99099 NCIT_R176 NCIT_C19931 @default.
- NCIT_C99099 NCIT_R176 NCIT_C20103 @default.
- NCIT_C99099 NCIT_R176 NCIT_C20719 @default.
- NCIT_C99099 NCIT_R176 NCIT_C21281 @default.
- NCIT_C99099 NCIT_R176 NCIT_C21295 @default.
- NCIT_C99099 NCIT_R176 NCIT_C25870 @default.
- NCIT_C99099 NCIT_R176 NCIT_C25871 @default.
- NCIT_C99099 NCIT_R176 NCIT_C25872 @default.
- NCIT_C99099 normalizedInformationContent "100" @default.
- NCIT_C99099 referenceCount "1" @default.
- NCIT_C99099 hasExactSynonym "Acrocephalosyndactyly Type I" @default.
- NCIT_C99099 hasExactSynonym "Apert Syndrome" @default.
- NCIT_C99099 hasExactSynonym "Type I Acrocephalosyndactyly" @default.
- NCIT_C99099 inSubset NCIT_C165258 @default.
- NCIT_C99099 inSubset NCIT_C192842 @default.
- NCIT_C99099 inSubset NCIT_C90259 @default.
- NCIT_C99099 inSubset NCIT_C99147 @default.
- NCIT_C99099 type Class @default.
- NCIT_C99099 isDefinedBy ncit.owl @default.
- NCIT_C99099 label "Type I Acrocephalosyndactyly" @default.
- NCIT_C99099 subClassOf B2061df2f777553faf0c950656639e7f8 @default.
- NCIT_C99099 subClassOf B2e8d050ff6a41a48b88c794689c84085 @default.
- NCIT_C99099 subClassOf NCIT_C28193 @default.
- NCIT_C99099 subClassOf NCIT_C2849 @default.
- NCIT_C99099 subClassOf NCIT_C2991 @default.
- NCIT_C99099 subClassOf NCIT_C34348 @default.
- NCIT_C99099 subClassOf NCIT_C36287 @default.
- NCIT_C99099 subClassOf NCIT_C4873 @default.
- NCIT_C99099 subClassOf NCIT_C53529 @default.
- NCIT_C99099 subClassOf NCIT_C53543 @default.
- NCIT_C99099 subClassOf NCIT_C53547 @default.
- NCIT_C99099 subClassOf NCIT_C7057 @default.
- NCIT_C99099 subClassOf NCIT_C97151 @default.
- NCIT_C99099 subClassOf NCIT_C99099 @default.