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 | C0266087 | Congenital Abnormality | Congenital short hard palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266092 | Congenital Abnormality | Congenital lip pits | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266096 | Congenital Abnormality | Synchilia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266111 | Congenital Abnormality | Bifid tongue | Malformations of organs or body parts during development in utero. | Tongue with a median apical indentation or fork. [PMID:19125428] |
C0000768 | isa | C0266112 | Congenital Abnormality | Trifid tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266131 | Congenital Abnormality | Congenital dilatation of esophagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266137 | Congenital Abnormality | Congenital esophagobronchial fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266144 | Congenital Abnormality | Gastric atresia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266147 | Congenital Abnormality | Congenital diverticulum of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266150 | Congenital Abnormality | Congenital microgastria | Malformations of organs or body parts during development in utero. | Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multi... |
C0000768 | isa | C0266151 | Congenital Abnormality | Congenital gastric perforation | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266153 | Congenital Abnormality | Ectopic gastric tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266162 | Congenital Abnormality | Congenital pyloric membrane | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266168 | Congenital Abnormality | Ectopic intestinal mucosa | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266173 | Congenital Abnormality | Congenital stenosis of small intestine | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266208 | Congenital Abnormality | Congenital mesocolic hernia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266209 | Congenital Abnormality | Congenital dilatation of colon | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266214 | Congenital Abnormality | Congenital stricture of rectum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266219 | Congenital Abnormality | Congenital rectovesical fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266221 | Congenital Abnormality | Congenital rectovaginal fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266223 | Congenital Abnormality | Anorectal agenesis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266229 | Congenital Abnormality | Congenital stricture of anus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266232 | Congenital Abnormality | Congenital adhesions of omentum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266233 | Congenital Abnormality | Congenital adhesions of peritoneum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266234 | Congenital Abnormality | Jackson's membrane | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266241 | Congenital Abnormality | Congenital absence of bile duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266242 | Congenital Abnormality | Congenital hypoplasia of bile duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266245 | Congenital Abnormality | Congenital stricture of bile duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266251 | Congenital Abnormality | Gallbladder, Agenesis Of | Malformations of organs or body parts during development in utero. | A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledo... |
C0000768 | isa | C0266252 | Congenital Abnormality | Congenital septation of gallbladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266256 | Congenital Abnormality | Ectopic gallbladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266258 | Congenital Abnormality | Congenital absence of liver | Malformations of organs or body parts during development in utero. | Absence of the liver owing to a failure of the liver to develop. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266260 | Congenital Abnormality | Accessory hepatic duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266262 | Congenital Abnormality | Congenital liver grooves | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266267 | Congenital Abnormality | Congenital hypoplasia of pancreas | Malformations of organs or body parts during development in utero. | Hypoplasia of the pancreas. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266268 | Congenital Abnormality | Accessory pancreas | Malformations of organs or body parts during development in utero. | A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. |
C0000768 | isa | C0266270 | Congenital Abnormality | Pancreas Divisum | Malformations of organs or body parts during development in utero. | Anatomic variants in PANCREATIC DUCTS characterized by failure of fusion of the ventral and dorsal endodermal buds. Pancreas divisum results in inadequate or no communication between dorsal and ventral ducts. While most cases are asymptomatic, it may be associated with recurrent PANCREATITIS. |
C0000768 | isa | C0266273 | Congenital Abnormality | Congenital absence of adrenal gland | Malformations of organs or body parts during development in utero. | Absent development of the adrenal gland. [https://orcid.org/0000-0002-0538-4547] |
C0000768 | isa | C0266274 | Congenital Abnormality | Accessory adrenal gland | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266275 | Congenital Abnormality | Ectopic adrenal gland | Malformations of organs or body parts during development in utero. | Abnormal anatomical location of the adrenal gland. [https://orcid.org/0000-0002-0538-4547] |
C0000768 | isa | C0266282 | Congenital Abnormality | Accessory thyroid gland | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266288 | Congenital Abnormality | Ectopic pituitary tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266294 | Congenital Abnormality | Unilateral agenesis of kidney | Malformations of organs or body parts during development in utero. | Either a single or a single functioning kidney due to NEPHRECTOMY, birth defects or other kidney diseases. |
C0000768 | isa | C0266295 | Congenital Abnormality | Congenital hypoplasia of kidney | Malformations of organs or body parts during development in utero. | A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of nep... |
C0000768 | isa | C0266298 | Congenital Abnormality | Accessory kidney | Malformations of organs or body parts during development in utero. | A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266304 | Congenital Abnormality | Double kidney (disorder) | Malformations of organs or body parts during development in utero. | A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter. |
C0000768 | isa | C0266305 | Congenital Abnormality | Fused Kidney | Malformations of organs or body parts during development in utero. | Congenital fusion of two kidneys. |
C0000768 | isa | C0266308 | Congenital Abnormality | Discoid kidney | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266309 | Congenital Abnormality | congenital lobulation of kidney | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266312 | Congenital Abnormality | Microcystic renal disease | Malformations of organs or body parts during development in utero. | A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. |
C0000768 | isa | C0266315 | Congenital Abnormality | Trifid kidney | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266320 | Congenital Abnormality | Impervious ureter | Malformations of organs or body parts during development in utero. | A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266322 | Congenital Abnormality | Congenital stricture of ureter | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266323 | Congenital Abnormality | Congenital hydroureter | Malformations of organs or body parts during development in utero. | Dilatation of the ureter caused by obstruction of urine flow that is present at birth. |
C0000768 | isa | C0266326 | Congenital Abnormality | Congenital absence of ureter | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266327 | Congenital Abnormality | Accessory ureter | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266328 | Congenital Abnormality | Ectopic ureter | Malformations of organs or body parts during development in utero. | A congenital anomaly in which the ureteral orifice drains into an abnormal location. |
C0000768 | isa | C0266336 | Congenital Abnormality | Congenital absence of urinary bladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266338 | Congenital Abnormality | Accessory urinary bladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266339 | Congenital Abnormality | Congenital diverticulum of urinary bladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266340 | Congenital Abnormality | Congenital hernia of urinary bladder | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266344 | Congenital Abnormality | Congenital stricture of urethra | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266346 | Congenital Abnormality | Congenital absence of urethra | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266347 | Congenital Abnormality | Accessory urethra | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266350 | Congenital Abnormality | Congenital stricture of vesicourethral orifice | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266351 | Congenital Abnormality | Congenital stricture of urinary meatus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266352 | Congenital Abnormality | Atresia of urinary meatus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266354 | Congenital Abnormality | Congenital urethrorectal fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266368 | Congenital Abnormality | Congenital absence of ovary | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266369 | Congenital Abnormality | Accessory ovary | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266370 | Congenital Abnormality | Ectopic ovary | Malformations of organs or body parts during development in utero. | Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. [PMID:12584384] |
C0000768 | isa | C0266374 | Congenital Abnormality | Congenital atresia of fallopian tube | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266375 | Congenital Abnormality | Accessory fallopian tube | Malformations of organs or body parts during development in utero. | The presence of a supernumerary Fallopian tube. [https://orcid.org/0000-0002-0736-9199, PMID:23532389] |
C0000768 | isa | C0266377 | Congenital Abnormality | Congenital absence of broad ligament | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266378 | Congenital Abnormality | Accessory broad ligament | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266379 | Congenital Abnormality | Congenital atresia of broad ligament | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266384 | Congenital Abnormality | Congenital absence of uterus | Malformations of organs or body parts during development in utero. | A congenital abnormality characterized by the complete absence of the uterus. |
C0000768 | isa | C0266393 | Congenital Abnormality | Congenital duplication of uterus | Malformations of organs or body parts during development in utero. | An abnormality in which the MULLARIAN DUCTS do not properly join to form a single uterus during embryological development instead resulting in complete duplication of uterine horns and duplication of the cervix. Double uterus is associated with double cervix and vagina and sometimes renal agenesis. |
C0000768 | isa | C0266404 | Congenital Abnormality | Congenital absence of cervix | Malformations of organs or body parts during development in utero. | Congenital absence of the uterine cervix. [] |
C0000768 | isa | C0266406 | Congenital Abnormality | Congenital stenosis of cervical canal | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266410 | Congenital Abnormality | Congenital duplication of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266411 | Congenital Abnormality | Septate vagina | Malformations of organs or body parts during development in utero. | A rare vaginal malformation characterized by the presence of a complete or incomplete longitudinal or transverse septum in the vagina due to disrupted fusion or canalization of the solid vaginal plate during embryogenesis. Signs and symptoms depend on the type of septum. |
C0000768 | isa | C0266412 | Congenital Abnormality | Congenital stenosis of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266418 | Congenital Abnormality | Congenital absence of vulva | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266419 | Congenital Abnormality | Synechia vulvae | Malformations of organs or body parts during development in utero. | Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. [PMID:17364294, PMID:29262197] |
C0000768 | isa | C0266420 | Congenital Abnormality | Congenital absence of clitoris | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266425 | Congenital Abnormality | Congenital hypoplasia of testis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266428 | Congenital Abnormality | Congenital fusion of testis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266430 | Congenital Abnormality | Polyorchism | Malformations of organs or body parts during development in utero. | The presence of more than two testes. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0266435 | Congenital Abnormality | Congenital hypoplasia of penis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266436 | Congenital Abnormality | Congenital chordee | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266440 | Congenital Abnormality | Congenital absence of prostate | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266442 | Congenital Abnormality | Congenital absence of spermatic cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266445 | Congenital Abnormality | Congenital atresia of vas deferens | Malformations of organs or body parts during development in utero. | Abnormal closure or blockage of the vas deferens. [] |
C0000768 | isa | C0266446 | Congenital Abnormality | Congenital atresia of ejaculatory duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266458 | Congenital Abnormality | Hydromeningocele | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266459 | Congenital Abnormality | Cranial hydromeningocele | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266460 | Congenital Abnormality | Hydromicrocephaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266461 | Congenital Abnormality | Congenital absence of part of brain | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0266462 | Congenital Abnormality | Congenital hypoplasia of part of brain | Malformations of organs or body parts during development in utero. | null |
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