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 | associated_with | C0314559 | Congenital Abnormality | Fibrinogen New Orleans I | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314560 | Congenital Abnormality | Fibrinogen Parma | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314561 | Congenital Abnormality | Fibrinogen Philadelphia | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314562 | Congenital Abnormality | Fibrinogen Quebec II | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314563 | Congenital Abnormality | Fibrinogen Rouen | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314564 | Congenital Abnormality | Fibrinogen San Juan | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314565 | Congenital Abnormality | Fibrinogen Valencia | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314566 | Congenital Abnormality | Fibrinogen Vancouver | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314567 | Congenital Abnormality | fibrinogen Vicenza | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314568 | Congenital Abnormality | Fibrinogen Vienna | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314569 | Congenital Abnormality | Fibrinogen Argenteuil | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314570 | Congenital Abnormality | Fibrinogen Charlottsville | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314571 | Congenital Abnormality | Fibrinogen Copenhagen | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314572 | Congenital Abnormality | fibrinogen Malmoe | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314573 | Congenital Abnormality | Fibrinogen Nancy | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314574 | Congenital Abnormality | Fibrinogen New Orleans II | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314576 | Congenital Abnormality | fibrinogen Oslo I | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314577 | Congenital Abnormality | Fibrinogen Pamplona | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314578 | Congenital Abnormality | Fibrinogen Poitiers | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314579 | Congenital Abnormality | fibrinogen Baltimore I | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314580 | Congenital Abnormality | fibrinogen Marburg | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0314581 | Congenital Abnormality | Fibrinogen Wiesbaden | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0344559 | Congenital Abnormality | Irido-corneo-trabecular dysgenesis (disorder) | Malformations of organs or body parts during development in utero. | Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. |
C0000768 | associated_with | C0345380 | Congenital Abnormality | Congenital anomaly of sternocleidomastoid muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0345460 | Congenital Abnormality | Omphalopagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0345461 | Congenital Abnormality | Ischiopagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0392477 | Congenital Abnormality | Congenital flat foot | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0405102 | Congenital Abnormality | Lithopedion | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0406735 | Congenital Abnormality | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | Malformations of organs or body parts during development in utero. | Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. |
C0000768 | associated_with | C0424711 | Congenital Abnormality | Orbital separation diminished | Malformations of organs or body parts during development in utero. | Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). [https://orcid.org/0000-0002-0736-9199, PMID:19125427] |
C0000768 | associated_with | C0431643 | Congenital Abnormality | Congenital anomaly of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0432132 | Congenital Abnormality | Congenital anomaly of thoracic cage | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0432267 | Congenital Abnormality | IBIDS Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensit... |
C0000768 | associated_with | C0432333 | Congenital Abnormality | Abnormal dermatoglyphic pattern | Malformations of organs or body parts during development in utero. | An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | associated_with | C0472503 | Congenital Abnormality | Congenital malformation of vitreous humor | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0478010 | Congenital Abnormality | Congenital anomaly of tricuspid valve | Malformations of organs or body parts during development in utero. | A defect of the tricuspid valve present at birth. |
C0000768 | associated_with | C0497552 | Congenital Abnormality | Congenital neurologic anomalies | Malformations of organs or body parts during development in utero. | Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. |
C0000768 | associated_with | C0520555 | Congenital Abnormality | Congenital anomaly of head | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0559913 | Congenital Abnormality | Congenital anomaly of broad ligament | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0596364 | Congenital Abnormality | Congenital disease of brain | Malformations of organs or body parts during development in utero. | pathologic condition existing at, and usually before, birth affecting the brain, which is composed of the intracranial components of the central nervous system. |
C0000768 | associated_with | C0623825 | Congenital Abnormality | fibrinogen New York 1 | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685208 | Congenital Abnormality | Congenital anomaly of palatine bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685215 | Congenital Abnormality | Congenital anomaly of zygomatic bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685222 | Congenital Abnormality | Congenital anomaly of nasal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685229 | Congenital Abnormality | Congenital anomaly of lacrimal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685236 | Congenital Abnormality | Congenital anomaly of hyoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685243 | Congenital Abnormality | Congenital anomaly of vomer | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685250 | Congenital Abnormality | Congenital anomaly of premaxilla | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685258 | Congenital Abnormality | Congenital anomaly of fetal head bones | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685259 | Congenital Abnormality | Congenital anomaly of alisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685267 | Congenital Abnormality | Congenital anomaly of basisphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685275 | Congenital Abnormality | Congenital anomaly of presphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685283 | Congenital Abnormality | Congenital anomaly of basioccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685291 | Congenital Abnormality | Congenital anomaly of exoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685299 | Congenital Abnormality | Congenital anomaly of supraoccipital bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685308 | Congenital Abnormality | Congenital anomaly of interparietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685317 | Congenital Abnormality | Congenital anomaly of parietal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685325 | Congenital Abnormality | Congenital anomaly of squamosal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685333 | Congenital Abnormality | Congenital anomaly of frontal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685349 | Congenital Abnormality | Congenital anomaly of paw | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685481 | Congenital Abnormality | Congenital anomaly of cervical vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685506 | Congenital Abnormality | Congenital anomaly of thoracic vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685531 | Congenital Abnormality | Congenital anomaly of lumbar vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685556 | Congenital Abnormality | Congenital anomaly of sacral vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685584 | Congenital Abnormality | Congenital anomaly of caudal vertebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685606 | Congenital Abnormality | Congenital anomaly of animal tail | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685612 | Congenital Abnormality | Congenital hooked tail | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685613 | Congenital Abnormality | Congenital blunt-tipped tail | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685634 | Congenital Abnormality | Congenital anomaly of rib cartilage | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685640 | Congenital Abnormality | Congenital anomaly of sternebra | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685650 | Congenital Abnormality | Congenital anomaly of pelvic bones | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685651 | Congenital Abnormality | Congenital anomaly of ilium | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685661 | Congenital Abnormality | Congenital anomaly of ischium | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685671 | Congenital Abnormality | Congenital anomaly of pubis | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685690 | Congenital Abnormality | Congenital anomaly of nasal turbinate | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685695 | Congenital Abnormality | Abnormal lung lobation | Malformations of organs or body parts during development in utero. | A developmental defect in the formation of pulmonary lobes. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | associated_with | C0685742 | Congenital Abnormality | Congenital anomaly of carotid artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685758 | Congenital Abnormality | Congenital anomaly of azygos vein | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685762 | Congenital Abnormality | Congenital anomaly of claw | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685826 | Congenital Abnormality | Congenital convoluted ureter | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685844 | Congenital Abnormality | Congenital anomaly of fallopian tubes | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685857 | Congenital Abnormality | Congenital anomaly of epididymis | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685869 | Congenital Abnormality | Monophthalmos | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0685874 | Congenital Abnormality | Congenital abnormal shape of inner ear | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0687149 | Congenital Abnormality | Pure gonadal dysgenesis | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0700587 | Congenital Abnormality | Congenital anomaly of spleen | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0730205 | Congenital Abnormality | Congenital anomaly of trunk | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C0949506 | Congenital Abnormality | Porokeratosis of Mibelli | Malformations of organs or body parts during development in utero. | The classical form of porokeratosis with isolated lesions. |
C0000768 | associated_with | C1096812 | Congenital Abnormality | Fibrinogen Birmingham | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1096813 | Congenital Abnormality | Fibrinogen Manchester | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1290455 | Congenital Abnormality | Gynandromorphism syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1290601 | Congenital Abnormality | Congenital anomaly of intestinal tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1301937 | Congenital Abnormality | Talipes | Malformations of organs or body parts during development in utero. | Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY. |
C0000768 | associated_with | C1305963 | Congenital Abnormality | Anomaly of epiglottis | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1306779 | Congenital Abnormality | brain; lesion, congenital | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1306780 | Congenital Abnormality | Congenital lesion of spinal cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1306781 | Congenital Abnormality | Congenital disease of spinal cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1306893 | Congenital Abnormality | Anomaly of placenta | Malformations of organs or body parts during development in utero. | An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | associated_with | C1313885 | Congenital Abnormality | Hereditary edema of legs | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_with | C1314799 | Congenital Abnormality | Fibrinogen Paris I | Malformations of organs or body parts during development in utero. | null |
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