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 | C0266399 | Congenital Abnormality | Infantile uterus | Malformations of organs or body parts during development in utero. | A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, ... |
C0000768 | has_associated_morphology | C0266400 | Congenital Abnormality | Uterus parvicollis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266401 | Congenital Abnormality | Subseptate Uterus | Malformations of organs or body parts during development in utero. | Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor ... |
C0000768 | has_associated_morphology | C0266402 | Congenital Abnormality | Congenital prolapsed uterus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266403 | Congenital Abnormality | Congenital anomaly of cervix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266413 | Congenital Abnormality | Embryonic cyst of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266414 | Congenital Abnormality | Imperforate Vagina | Malformations of organs or body parts during development in utero. | A congenital birth defect characterized by the absence of a normal vaginal opening. |
C0000768 | has_associated_morphology | C0266415 | Congenital Abnormality | Congenital anomaly of vulva | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266416 | Congenital Abnormality | Congenital cyst of vulva | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266417 | Congenital Abnormality | Congenital cyst of canal of Nuck | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266418 | Congenital Abnormality | Congenital absence of vulva | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266421 | Congenital Abnormality | Congenital anomaly of male genital system | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266423 | Congenital Abnormality | Congenital anomaly of testis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266432 | Congenital Abnormality | Leydig cell agenesis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266433 | Congenital Abnormality | Congenital anomaly of penis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266438 | Congenital Abnormality | Paraspadias | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266439 | Congenital Abnormality | Congenital anomaly of prostate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266440 | Congenital Abnormality | Congenital absence of prostate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266441 | Congenital Abnormality | Congenital anomaly of spermatic cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266443 | Congenital Abnormality | Congenital anomaly of vas deferens | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266495 | Congenital Abnormality | Dural arteriovenous malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266583 | Congenital Abnormality | Congenital anomaly of lacrimal gland | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266589 | Congenital Abnormality | Congenital ear anomaly NOS (disorder) | Malformations of organs or body parts during development in utero. | An abnormality of the ear. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266616 | Congenital Abnormality | Congenital absence of eustachian tube | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266621 | Congenital Abnormality | Unilateral congenital macrostomia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266622 | Congenital Abnormality | Bilateral congenital macrostomia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266628 | Congenital Abnormality | Fistula colli congenita | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266642 | Congenital Abnormality | Situs ambiguus | Malformations of organs or body parts during development in utero. | Congenital deformity in which the internal organs of the THORAX and the ABDOMEN are abnormally arranged across the mediolateral body axis. |
C0000768 | has_associated_morphology | C0266658 | Congenital Abnormality | Autositic twin of asymmetrical conjoined twins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266659 | Congenital Abnormality | Parasitic twin of asymmetrical conjoined twins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266660 | Congenital Abnormality | Triplet monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266661 | Congenital Abnormality | Polysomatous monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266665 | Congenital Abnormality | Single monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266667 | Congenital Abnormality | Cyclocephaly | Malformations of organs or body parts during development in utero. | A rare congenital abnormality characterized by the failure of the embryonic prosencephalon to separate the eye orbit into two distinct cavities. Facial features tend to be absent although a proboscis has been seen to develop in conjunction. |
C0000768 | has_associated_morphology | C0266668 | Congenital Abnormality | Cyclops hypognathus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266669 | Congenital Abnormality | Opocephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266673 | Congenital Abnormality | Monster with cranial anomalies, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266675 | Congenital Abnormality | Atretocephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266676 | Congenital Abnormality | Agnathus (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266677 | Congenital Abnormality | Synotus | Malformations of organs or body parts during development in utero. | A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [https://orcid.org/0009-0006-4530-3154] |
C0000768 | has_associated_morphology | C0266678 | Congenital Abnormality | Derencephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266679 | Congenital Abnormality | Cebocephaly | Malformations of organs or body parts during development in utero. | A congenital abnormality characterized by a malformation of the head. The eyes are hypoteleric and the nose may be absent or misshapen (small, flattened, single nostril) and defective. |
C0000768 | has_associated_morphology | C0266680 | Congenital Abnormality | Ethmocephalus | Malformations of organs or body parts during development in utero. | Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. [https://orcid.org/0000-0002-0003-6754, PMID:23248551] |
C0000768 | has_associated_morphology | C0266681 | Congenital Abnormality | Omocephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266682 | Congenital Abnormality | Celosomus | Malformations of organs or body parts during development in utero. | Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. [https://orcid.org/0009-0006-4530-3154] |
C0000768 | has_associated_morphology | C0266684 | Congenital Abnormality | Fetus in fetu | Malformations of organs or body parts during development in utero. | Rare abnormality where a fetal part of an identical twin that stopped developing during gestation is found within a normally developing fetus. It is considered a TWIN PREGNANCY complication. |
C0000768 | has_associated_morphology | C0266690 | Congenital Abnormality | Thoracodelphus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266691 | Congenital Abnormality | Pygodidymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266695 | Congenital Abnormality | Monocephalus (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266696 | Congenital Abnormality | Monocephalus tetrapus dibrachius | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266697 | Congenital Abnormality | Monocephalus tripus dibrachius | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266698 | Congenital Abnormality | Syncephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266699 | Congenital Abnormality | Deradelphus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266700 | Congenital Abnormality | Janiceps (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266701 | Congenital Abnormality | Anakatadidymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266702 | Congenital Abnormality | Gastrothoracopagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266703 | Congenital Abnormality | Thoracodidymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266704 | Congenital Abnormality | Thoracopagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266707 | Congenital Abnormality | Thoracoparacephalus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266709 | Congenital Abnormality | Omphaloangiopagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266712 | Congenital Abnormality | Katadidymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266713 | Congenital Abnormality | Heterodymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266723 | Congenital Abnormality | Compound monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266726 | Congenital Abnormality | Thoracomelus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266727 | Congenital Abnormality | Ischiomelus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266728 | Congenital Abnormality | Pygomelus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266730 | Congenital Abnormality | Dicheirus (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266731 | Congenital Abnormality | Diprosopus | Malformations of organs or body parts during development in utero. | Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointesti... |
C0000768 | has_associated_morphology | C0266732 | Congenital Abnormality | Diprosopus tetrophthalmus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266733 | Congenital Abnormality | Cephalodiprosopus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266734 | Congenital Abnormality | Opodidymus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266738 | Congenital Abnormality | Diplopodia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266739 | Congenital Abnormality | Pygoamorphus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266743 | Congenital Abnormality | Heterologous chimera | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266744 | Congenital Abnormality | Homologous chimera | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266745 | Congenital Abnormality | Isologous chimera | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266792 | Congenital Abnormality | Vascular anomaly of umbilical cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266793 | Congenital Abnormality | Arterial anomaly of umbilical cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266794 | Congenital Abnormality | Venous anomaly of umbilical cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266797 | Congenital Abnormality | Single vessel of umbilical cord | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0267023 | Congenital Abnormality | Fistula of lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0268301 | Congenital Abnormality | Reifenstein Syndrome | Malformations of organs or body parts during development in utero. | A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE. |
C0000768 | has_associated_morphology | C0268357 | Congenital Abnormality | Osteogenesis imperfecta, type 1A | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0268420 | Congenital Abnormality | Familial arthrogryposis-cholestatic hepatorenal syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269238 | Congenital Abnormality | Female infertility due to structural congenital anomaly of cervix | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269241 | Congenital Abnormality | Female infertility due to structural congenital anomaly of vagina | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269727 | Congenital Abnormality | Congenital abnormality of uterus, affecting pregnancy | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269728 | Congenital Abnormality | Double uterus affecting pregnancy | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269765 | Congenital Abnormality | Central nervous system malformation in fetus affecting obstetrical care | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0269767 | Congenital Abnormality | Fetal or suspected fetal hydrocephalus affecting management of mother | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0270972 | Congenital Abnormality | Cornelia De Lange Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be... |
C0000768 | has_associated_morphology | C0271760 | Congenital Abnormality | Lingual Goiter | Malformations of organs or body parts during development in utero. | Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms. |
C0000768 | has_associated_morphology | C0272314 | Congenital Abnormality | Capillary fragility abnormality | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0276380 | Congenital Abnormality | Akabane virus disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0278457 | Congenital Abnormality | Indeterminate sex | Malformations of organs or body parts during development in utero. | Outer genital organs are not visually male or female. |
C0000768 | has_associated_morphology | C0300948 | Congenital Abnormality | Caudal Regression Syndrome | Malformations of organs or body parts during development in utero. | A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described. |
C0000768 | has_associated_morphology | C0311242 | Congenital Abnormality | Gingival odontogenic cyst | Malformations of organs or body parts during development in utero. | An odontogenic cyst found in the alveolar mucosa. (WHO 2017) |
C0000768 | possibly_equivalent_to | C0332447 | Congenital Abnormality | Morphologically abnormal structure (morphologic abnormality) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0332965 | Congenital Abnormality | Congenital arteriovenous fistula | Malformations of organs or body parts during development in utero. | An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. |
C0000768 | has_associated_morphology | C0332994 | Congenital Abnormality | Hydatid cyst of Morgagni - male | Malformations of organs or body parts during development in utero. | null |
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