CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000768 | isa | C0685205 | Congenital Abnormality | Leptocephaly (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685210 | Congenital Abnormality | Congenital abnormal fusion of palatine bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685211 | Congenital Abnormality | Congenital abnormal shape of palatine bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685212 | Congenital Abnormality | Congenital hypoplasia of palatine bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685217 | Congenital Abnormality | Congenital abnormal fusion of zygomatic bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685218 | Congenital Abnormality | Congenital abnormal shape of zygomatic bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685219 | Congenital Abnormality | Congenital hypoplasia of zygomatic bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685223 | Congenital Abnormality | Congenital abnormal fusion of nasal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685224 | Congenital Abnormality | Congenital abnormal shape of nasal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685225 | Congenital Abnormality | Congenital fenestration of nasal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685226 | Congenital Abnormality | Congenital hypoplasia of nasal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685231 | Congenital Abnormality | Congenital abnormal fusion of lacrimal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685232 | Congenital Abnormality | Congenital abnormal shape of lacrimal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685233 | Congenital Abnormality | Congenital hypoplasia of lacrimal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685238 | Congenital Abnormality | Congenital abnormal shape of hyoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685240 | Congenital Abnormality | Congenital hypoplasia of hyoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685252 | Congenital Abnormality | Congenital abnormal fusion of premaxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685253 | Congenital Abnormality | Congenital abnormal shape of premaxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685254 | Congenital Abnormality | Congenital fenestration of premaxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685255 | Congenital Abnormality | Congenital hypoplasia of premaxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685261 | Congenital Abnormality | Congenital abnormal fusion of alisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685262 | Congenital Abnormality | Congenital abnormal shape of alisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685263 | Congenital Abnormality | Congenital fenestration of alisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685264 | Congenital Abnormality | Congenital hypoplasia of alisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685269 | Congenital Abnormality | Congenital abnormal fusion of basisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685270 | Congenital Abnormality | Congenital abnormal shape of basisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685271 | Congenital Abnormality | Congenital fenestration of basisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685272 | Congenital Abnormality | Congenital hypoplasia of basisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685277 | Congenital Abnormality | Congenital abnormal fusion of presphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685280 | Congenital Abnormality | Congenital abnormal shape of presphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685281 | Congenital Abnormality | Congenital fenestration of presphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685282 | Congenital Abnormality | Congenital hypoplasia of presphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685285 | Congenital Abnormality | Congenital abnormal fusion of basioccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685286 | Congenital Abnormality | Congenital abnormal shape of basioccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685287 | Congenital Abnormality | Congenital fenestration of basioccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685288 | Congenital Abnormality | Congenital hypoplasia of basioccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685293 | Congenital Abnormality | Congenital abnormal fusion of exoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685294 | Congenital Abnormality | Congenital abnormal shape of exoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685295 | Congenital Abnormality | Congenital fenestration of exoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685296 | Congenital Abnormality | Congenital hypoplasia of exoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685301 | Congenital Abnormality | Congenital abnormal fusion of supraoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685302 | Congenital Abnormality | Congenital abnormal shape of supraoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685303 | Congenital Abnormality | Congenital fenestration of supraoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685304 | Congenital Abnormality | Congenital hypoplasia of supraoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685310 | Congenital Abnormality | Congenital abnormal fusion of interparietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685311 | Congenital Abnormality | Congenital abnormal shape of interparietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685312 | Congenital Abnormality | Congenital fenestration of interparietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685313 | Congenital Abnormality | Congenital hypoplasia of interparietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685319 | Congenital Abnormality | Congenital abnormal fusion of parietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685320 | Congenital Abnormality | Congenital abnormal shape of parietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685321 | Congenital Abnormality | Congenital fenestration of parietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685322 | Congenital Abnormality | Congenital hypoplasia of parietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685327 | Congenital Abnormality | Congenital abnormal fusion of squamosal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685328 | Congenital Abnormality | Congenital abnormal shape of squamosal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685329 | Congenital Abnormality | Congenital fenestration of squamosal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685330 | Congenital Abnormality | Congenital hypoplasia of squamosal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685335 | Congenital Abnormality | Congenital abnormal fusion of frontal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685336 | Congenital Abnormality | Congenital abnormal shape of frontal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685337 | Congenital Abnormality | Congenital fenestration of frontal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685338 | Congenital Abnormality | Congenital hypoplasia of frontal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685344 | Congenital Abnormality | Macromelia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685348 | Congenital Abnormality | Congenital abnormal shape of digit | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685350 | Congenital Abnormality | Congenital absence of paw | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685351 | Congenital Abnormality | Congenital hypoplasia of paw | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685351 | Congenital Abnormality | Congenital hypoplasia of paw | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685360 | Congenital Abnormality | Congenital abnormal shape of clavicle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685369 | Congenital Abnormality | Congenital abnormal shape of humerus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685371 | Congenital Abnormality | Congenital abnormal fusion of humerus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685375 | Congenital Abnormality | Congenital hypoplasia of humerus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685377 | Congenital Abnormality | Congenital abnormal fusion of radius | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685380 | Congenital Abnormality | Congenital abnormal shape of radius | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685381 | Congenital Abnormality | Congenital hypoplasia of radius | Malformations of organs or body parts during development in utero. | Underdevelopment of the radius. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0685386 | Congenital Abnormality | Congenital abnormal fusion of ulna | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685390 | Congenital Abnormality | Congenital abnormal shape of ulna | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685391 | Congenital Abnormality | Congenital hypoplasia of ulna | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685399 | Congenital Abnormality | Congenital abnormal shape of carpal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685401 | Congenital Abnormality | Congenital hypoplasia of carpal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685404 | Congenital Abnormality | Congenital abnormal fusion of metacarpal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685406 | Congenital Abnormality | Congenital abnormal shape of metacarpal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685408 | Congenital Abnormality | Congenital hypoplasia of metacarpal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685414 | Congenital Abnormality | Congenital hypoplasia of forepaw phalanx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685415 | Congenital Abnormality | Supernumerary forepaw phalanx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685421 | Congenital Abnormality | Congenital abnormal shape of femur | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685425 | Congenital Abnormality | Congenital abnormal fusion of fibula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685427 | Congenital Abnormality | Congenital abnormal shape of fibula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685428 | Congenital Abnormality | Congenital hypoplasia of fibula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685434 | Congenital Abnormality | Congenital abnormal shape of tibia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685435 | Congenital Abnormality | Congenital hypoplasia of tibia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685456 | Congenital Abnormality | Congenital abnormal fusion of tarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685458 | Congenital Abnormality | Congenital abnormal shape of tarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685459 | Congenital Abnormality | Congenital hypoplasia of tarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685460 | Congenital Abnormality | Supernumerary tarsal bone | Malformations of organs or body parts during development in utero. | The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus). [PMID:9272214] |
C0000768 | isa | C0685465 | Congenital Abnormality | Congenital abnormal fusion of metatarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685467 | Congenital Abnormality | Congenital abnormal shape of metatarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685468 | Congenital Abnormality | Congenital hypoplasia of metatarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685469 | Congenital Abnormality | Supernumerary metatarsal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685476 | Congenital Abnormality | Congenital hypoplasia of hindpaw phalanx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685477 | Congenital Abnormality | Supernumerary hindpaw phalanx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685484 | Congenital Abnormality | Congenital abnormal fusion of arch of cervical vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0685486 | Congenital Abnormality | Congenital misalignment of arch of cervical vertebra | Malformations of organs or body parts during development in utero. | null |
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