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- NCIT_C85047 IAO_0000115 "An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation." @default.
- NCIT_C85047 NCIT_NHC0 "C85047" @default.
- NCIT_C85047 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C85047 NCIT_P108 "Rhizomelic Chondrodysplasia Punctata" @default.
- NCIT_C85047 NCIT_P207 "C0282529" @default.
- NCIT_C85047 NCIT_P322 "Cellosaurus" @default.
- NCIT_C85047 NCIT_P322 "NICHD" @default.
- NCIT_C85047 NCIT_R100 NCIT_C12219 @default.
- NCIT_C85047 NCIT_R100 NCIT_C12755 @default.
- NCIT_C85047 NCIT_R100 NCIT_C12919 @default.
- NCIT_C85047 normalizedInformationContent "100" @default.
- NCIT_C85047 referenceCount "1" @default.
- NCIT_C85047 hasExactSynonym "Rhizomelic Chondrodysplasia Punctata Syndrome" @default.
- NCIT_C85047 hasExactSynonym "Rhizomelic Chondrodysplasia Punctata" @default.
- NCIT_C85047 hasExactSynonym "Rhizomelic Dwarfism" @default.
- NCIT_C85047 inSubset NCIT_C165258 @default.
- NCIT_C85047 inSubset NCIT_C192842 @default.
- NCIT_C85047 inSubset NCIT_C90259 @default.
- NCIT_C85047 inSubset NCIT_C99147 @default.
- NCIT_C85047 type Class @default.
- NCIT_C85047 isDefinedBy ncit.owl @default.
- NCIT_C85047 label "Rhizomelic Chondrodysplasia Punctata" @default.
- NCIT_C85047 subClassOf NCIT_C155747 @default.
- NCIT_C85047 subClassOf NCIT_C26835 @default.
- NCIT_C85047 subClassOf NCIT_C27551 @default.
- NCIT_C85047 subClassOf NCIT_C27588 @default.
- NCIT_C85047 subClassOf NCIT_C2991 @default.
- NCIT_C85047 subClassOf NCIT_C4873 @default.
- NCIT_C85047 subClassOf NCIT_C53529 @default.
- NCIT_C85047 subClassOf NCIT_C53531 @default.
- NCIT_C85047 subClassOf NCIT_C53543 @default.
- NCIT_C85047 subClassOf NCIT_C53547 @default.
- NCIT_C85047 subClassOf NCIT_C61253 @default.
- NCIT_C85047 subClassOf NCIT_C7057 @default.
- NCIT_C85047 subClassOf NCIT_C84632 @default.
- NCIT_C85047 subClassOf NCIT_C85047 @default.