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 | has_associated_morphology | C0431420 | Congenital Abnormality | Vein of Galen aneurysm | Malformations of organs or body parts during development in utero. | Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads ... |
C0000768 | has_associated_morphology | C0431421 | Congenital Abnormality | Congenital malformation of the meninges | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431438 | Congenital Abnormality | Congenital malformation of eye, ear and neck | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431446 | Congenital Abnormality | Congenital malformation of the eyebrow | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431447 | Congenital Abnormality | Synophrys | Malformations of organs or body parts during development in utero. | Meeting of the medial eyebrows in the midline. [PMID:19125427] |
C0000768 | has_associated_morphology | C0431448 | Congenital Abnormality | Absent eyebrow | Malformations of organs or body parts during development in utero. | Absence of the eyebrow. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0431449 | Congenital Abnormality | Double eyebrow | Malformations of organs or body parts during development in utero. | This may present as a partial or complete duplication of the eyebrows. [https://orcid.org/0009-0006-4530-3154] |
C0000768 | has_associated_morphology | C0431453 | Congenital Abnormality | Posterior chamber vascular anomalies NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431520 | Congenital Abnormality | Congenital stenosis of choanae | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431521 | Congenital Abnormality | Midline fissured, notched and cleft nose | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431522 | Congenital Abnormality | Congenital fissure of nose | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431530 | Congenital Abnormality | Congenital malformation of trachea and bronchus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431551 | Congenital Abnormality | Congenital malformation of tongue, mouth and pharynx | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431552 | Congenital Abnormality | Other mouth and pharynx anomalies NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431553 | Congenital Abnormality | Other specified congenital anomalies of mouth and pharynx | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431554 | Congenital Abnormality | Other pharynx anomalies NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431555 | Congenital Abnormality | Congenital pharyngeal polyp | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431556 | Congenital Abnormality | Other mouth anomalies NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431557 | Congenital Abnormality | Flat palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431560 | Congenital Abnormality | Congenital cleft tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431564 | Congenital Abnormality | Lobulated tongue | Malformations of organs or body parts during development in utero. | Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. [PMID:19125428] |
C0000768 | has_associated_morphology | C0431565 | Congenital Abnormality | Hamartoma of tongue | Malformations of organs or body parts during development in utero. | A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. [https://orcid.org/0000-0002-0736-9199, PMID:17667541] |
C0000768 | has_associated_morphology | C0431566 | Congenital Abnormality | Congenital malformation of salivary glands and ducts | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431567 | Congenital Abnormality | Other anomalies of salivary glands or ducts | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431568 | Congenital Abnormality | Displacement of Wharton's duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431570 | Congenital Abnormality | Accessory salivary gland or duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431571 | Congenital Abnormality | Accessory salivary duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431572 | Congenital Abnormality | Congenital palato-esophageal incoordination | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431574 | Congenital Abnormality | Unspecified anomalies of mouth and pharynx | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431609 | Congenital Abnormality | Congenital malformation of anterior abdominal wall | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431614 | Congenital Abnormality | Other specified anomalies of genital organs | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431615 | Congenital Abnormality | Cysts of embryonic remnants NEC | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431616 | Congenital Abnormality | Hypoplasia of genital organ NEC NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431617 | Congenital Abnormality | Congenital aplasia of genital organ NEC NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431618 | Congenital Abnormality | Atresia of genital organ NEC NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431619 | Congenital Abnormality | Genital organ absence NEC NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431620 | Congenital Abnormality | Cervical, vaginal and external female genital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431621 | Congenital Abnormality | Other cervical, vaginal and external female genital anomaly NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431622 | Congenital Abnormality | Congenital malformation of ovaries and fallopian tubes | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431626 | Congenital Abnormality | Embryonic cyst of fallopian tube or broad ligament NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431631 | Congenital Abnormality | Embryonic cyst of fallopian tube | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431632 | Congenital Abnormality | Congenital hydrosalpinx | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431633 | Congenital Abnormality | Congenital malformation of uterus and cervix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431634 | Congenital Abnormality | Other congenital anomaly of cervix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431635 | Congenital Abnormality | Other anomalies of uterus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431636 | Congenital Abnormality | Other specified anomalies of uterus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431638 | Congenital Abnormality | Solid rudimentary uterus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431639 | Congenital Abnormality | Doubling of uterus with doubling of cervix and vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431641 | Congenital Abnormality | Embryonic cyst of cervix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431643 | Congenital Abnormality | Congenital anomaly of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431643 | Congenital Abnormality | Congenital anomaly of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431645 | Congenital Abnormality | Congenital vaginal cyst NEC | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431647 | Congenital Abnormality | Atresia of lower vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431648 | Congenital Abnormality | Mayer-Rokitansky-Kuster syndrome | Malformations of organs or body parts during development in utero. | A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH synd... |
C0000768 | has_associated_morphology | C0431655 | Congenital Abnormality | Duplication of external genitalia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431656 | Congenital Abnormality | Congenital malformation of clitoris | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431657 | Congenital Abnormality | Other congenital anomaly of clitoris | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431659 | Congenital Abnormality | Hypoplasia of scrotum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431661 | Congenital Abnormality | Imperfectly descended testes - bilateral | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431662 | Congenital Abnormality | incomplete; descended testis, unilateral | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431663 | Congenital Abnormality | Bilateral Cryptorchidism | Malformations of organs or body parts during development in utero. | Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0431664 | Congenital Abnormality | Unilateral Cryptorchidism | Malformations of organs or body parts during development in utero. | Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0431665 | Congenital Abnormality | Other congenital anomaly of vas deferens or prostate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431668 | Congenital Abnormality | Congenital buried penis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431669 | Congenital Abnormality | Rotated penis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431670 | Congenital Abnormality | Webbed penis | Malformations of organs or body parts during development in utero. | Ventral skinfold extending from penis to scrotum. [PMID:23650202] |
C0000768 | has_associated_morphology | C0431672 | Congenital Abnormality | Short preputial frenulum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431673 | Congenital Abnormality | Congenital parameatal cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431674 | Congenital Abnormality | False hermaphrodite | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431675 | Congenital Abnormality | Intersex NEC | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431758 | Congenital Abnormality | Congenital malformation syndromes with other skeletal changes | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0431766 | Congenital Abnormality | Congenital malformation syndromes predominantly involving limbs | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432045 | Congenital Abnormality | Perodactylia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432046 | Congenital Abnormality | Perodactylia of multiple toes | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432047 | Congenital Abnormality | Perodactylia of lesser toe | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432048 | Congenital Abnormality | Perodactylia of great toe | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432063 | Congenital Abnormality | Other arthrogryposis syndromes | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432066 | Congenital Abnormality | Congenital malformation syndromes predominantly affecting facial appearance | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432077 | Congenital Abnormality | Other congenital anomaly of palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432078 | Congenital Abnormality | Central incomplete cleft palate with cleft lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432079 | Congenital Abnormality | Central cleft lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432080 | Congenital Abnormality | Bilateral complete and incomplete cleft lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432081 | Congenital Abnormality | Incomplete cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432082 | Congenital Abnormality | complete cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432083 | Congenital Abnormality | Unilateral cleft hard palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432084 | Congenital Abnormality | Cleft of primary palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432085 | Congenital Abnormality | Unilateral incomplete cleft lip and alveolus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432086 | Congenital Abnormality | Unilateral complete cleft lip and alveolus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432087 | Congenital Abnormality | Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432088 | Congenital Abnormality | bilateral complete cleft lip or alveolus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432089 | Congenital Abnormality | Bilateral complete and incomplete cleft lip and alveolus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432090 | Congenital Abnormality | Cleft of hard palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432091 | Congenital Abnormality | Cleft hard palate, central | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432092 | Congenital Abnormality | Cleft hard palate, bilateral | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432093 | Congenital Abnormality | Incomplete cleft hard and soft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432094 | Congenital Abnormality | Central incomplete cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432095 | Congenital Abnormality | Complete cleft hard and soft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432096 | Congenital Abnormality | Central complete cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0432098 | Congenital Abnormality | Cleft Soft Palate | Malformations of organs or body parts during development in utero. | Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. |
C0000768 | has_associated_morphology | C0432100 | Congenital Abnormality | Cleft soft palate, bilateral | Malformations of organs or body parts during development in utero. | null |
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