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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