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 ⌀ |
|---|---|---|---|---|---|---|
C0000754 | has_associated_morphology | C4509813 | Congenital abnormal fusion | Congenital chorioretinal coloboma of right eye | null | null |
C0000754 | has_associated_morphology | C4509814 | Congenital abnormal fusion | Congenital chorioretinal coloboma of bilateral eyes | null | null |
C0000754 | has_associated_morphology | C4509839 | Congenital abnormal fusion | Hypotrichosis and intellectual disability syndrome Lopes type | null | Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. |
C0000754 | has_associated_morphology | C4510303 | Congenital abnormal fusion | Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome | null | Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter. |
C0000754 | has_associated_morphology | C4510372 | Congenital abnormal fusion | Polysomia | null | null |
C0000754 | has_associated_morphology | C4518569 | Congenital abnormal fusion | Duplication of eyebrow and syndactyly syndrome | null | Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the p... |
C0000754 | has_associated_morphology | C4544150 | Congenital abnormal fusion | Bilateral webbed toes of both feet | null | null |
C0000754 | has_associated_morphology | C4545230 | Congenital abnormal fusion | Tibio-fibular synostosis | null | A rare non-syndromic limb malformation with characteristics of fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis. The disease is frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula and valgus deformity of the knee. |
C0000754 | has_direct_morphology | C4545765 | Congenital abnormal fusion | Repair of syndactyly with skin graft | null | null |
C0000754 | has_associated_morphology | C4706392 | Congenital abnormal fusion | Isolated congenital syngnathia | null | A very rare developmental defect during embryogenesis with characteristics of varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could rang... |
C0000754 | has_associated_morphology | C4706525 | Congenital abnormal fusion | Syndactyly type 6 | null | A rare genetic non-syndromic congenital limb malformation with characteristics of unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second and third-toe fusion. Some individuals present only with webbing between second and third toes without involvement of fing... |
C0000754 | has_associated_morphology | C4706681 | Congenital abnormal fusion | Symbrachydactyly of digit of hand | null | null |
C0000754 | has_associated_morphology | C4707866 | Congenital abnormal fusion | Familial lambdoid synostosis | null | A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral de... |
C0000754 | has_associated_morphology | C4749852 | Congenital abnormal fusion | Ectodermal dysplasia syndactyly syndrome | null | A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyl... |
C0000754 | has_associated_morphology | C4751207 | Congenital abnormal fusion | Humeroradioulnar synostosis | null | An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened ar... |
C0000754 | has_associated_morphology | C4751214 | Congenital abnormal fusion | Bilateral radioulnar synostosis | null | null |
C0000754 | has_associated_morphology | C4751401 | Congenital abnormal fusion | Bilateral tarsal coalitions of feet | null | null |
C0000754 | has_associated_morphology | C4751506 | Congenital abnormal fusion | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | null | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compres... |
C0000754 | has_associated_morphology | C5190737 | Congenital abnormal fusion | Dobrow syndrome | null | A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated... |
C0000754 | has_associated_morphology | C5190852 | Congenital abnormal fusion | Cloverleaf skull, asphyxiating thoracic dysplasia syndrome | null | A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses a... |
C0000754 | has_associated_morphology | C5190993 | Congenital abnormal fusion | Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | null | A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. |
C0000754 | has_associated_morphology | C5191039 | Congenital abnormal fusion | Syndactyly, polydactyly, ear lobe syndrome | null | A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray i... |
C0000754 | has_associated_morphology | C5234850 | Congenital abnormal fusion | Antley-Bixler Syndrome | null | A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
C0000754 | has_associated_morphology | C5397319 | Congenital abnormal fusion | Syndactyly of toes with fusion of bones of toes of bilateral feet | null | null |
C0000754 | has_associated_morphology | C5437361 | Congenital abnormal fusion | Bilateral syndactyly of toes | null | null |
C0000754 | has_associated_morphology | C5437904 | Congenital abnormal fusion | Bilateral syndactyly of fingers with fusion of bones | null | null |
C0000754 | has_associated_morphology | C5438240 | Congenital abnormal fusion | Bilateral humeroradial synostosis | null | null |
C0000754 | has_associated_morphology | C5438413 | Congenital abnormal fusion | Fetal epignathus with conjoined twins | null | null |
C0000754 | has_associated_morphology | C5438468 | Congenital abnormal fusion | Symbrachydactyly of bilateral hands and feet | null | null |
C0000754 | has_associated_morphology | C5438514 | Congenital abnormal fusion | Simple syndactyly of toes of second web space of bilateral feet | null | null |
C0000754 | has_associated_morphology | C5438699 | Congenital abnormal fusion | Bilateral congenital tibiofibular synostosis | null | null |
C0000754 | has_associated_morphology | C5438812 | Congenital abnormal fusion | Pfeiffer syndrome type 1 | null | null |
C0000754 | has_associated_morphology | C5438849 | Congenital abnormal fusion | Pfeiffer syndrome type 2 | null | null |
C0000754 | has_associated_morphology | C5438850 | Congenital abnormal fusion | Pfeiffer syndrome type 3 | null | null |
C0000754 | has_associated_morphology | C5438933 | Congenital abnormal fusion | Simple syndactyly of toes of first web space of bilateral feet | null | null |
C0000754 | has_associated_morphology | C5438978 | Congenital abnormal fusion | Bilateral humero-radio-ulnar synostosis | null | null |
C0000754 | has_associated_morphology | C5438980 | Congenital abnormal fusion | Bilateral humero-ulnar synostosis | null | null |
C0000754 | has_associated_morphology | C5439182 | Congenital abnormal fusion | Thoracoomphalopagus | null | null |
C0000754 | has_associated_morphology | C5574939 | Congenital abnormal fusion | Timothy syndrome type 1 | null | Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Ti... |
C0000754 | has_associated_morphology | C5679809 | Congenital abnormal fusion | Congenital radioulnar synostosis | null | null |
C0000754 | has_associated_morphology | C5681240 | Congenital abnormal fusion | Short rib polydactyly syndrome type 5 | null | A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defe... |
C0000754 | has_associated_morphology | C5687227 | Congenital abnormal fusion | Bilateral congenital abnormal fusion of carpal bones | null | null |
C0000754 | has_associated_morphology | C5687283 | Congenital abnormal fusion | Congenital abnormal fusion of left carpal bones | null | null |
C0000754 | has_associated_morphology | C5687284 | Congenital abnormal fusion | Congenital abnormal fusion of right carpal bones | null | null |
C0000754 | has_associated_morphology | C5779878 | Congenital abnormal fusion | Triphalangeal thumb and polysyndactyly syndrome | null | A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually les... |
C0000754 | has_associated_morphology | C5816683 | Congenital abnormal fusion | Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome | null | A rare ectodermal dysplasia syndrome characterised by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. A... |
C0000754 | replaces | C5921896 | Congenital abnormal fusion | Abnormally fused structure | null | Fusion that has occurred in a structure that is not normally fused. |
C0000765 | mapped_from | C0332544 | Excessive body weight gain | Abnormal weight gain | null | null |
C0000765 | clinically_associated_with | C0002965 | Excessive body weight gain | Angina, Unstable | null | Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION. |
C0000765 | clinically_associated_with | C0149973 | Excessive body weight gain | Intrauterine pregnancy | null | null |
C0000765 | inverse_isa | C0740826 | Excessive body weight gain | VITAL/MEAS PROBLEM | null | null |
C0000765 | has_manifestation | C2749022 | Excessive body weight gain | Chromosome Xp11.23-P11.22 Duplication Syndrome | null | null |
C0000765 | possibly_equivalent_to | C0497406 | Excessive body weight gain | Overweight | null | A status with BODY WEIGHT that is above certain standards. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal over fat. |
C0000765 | has_risk_factor | C4060576 | Excessive body weight gain | Risk for unstable blood glucose level | null | Susceptible to variation in serum levels of glucose from the normal range, which may compromise health. |
C0000765 | isa | C2220009 | Excessive body weight gain | Excessive weight gain during pregnancy | null | null |
C0000765 | inverse_isa | C0043094 | Excessive body weight gain | Weight Gain | null | Increase in BODY WEIGHT over existing weight. |
C0000765 | inverse_isa | C1290926 | Excessive body weight gain | Body weight AND/OR growth problem | null | null |
C0000765 | isa | C2203026 | Excessive body weight gain | weight gain greater than 7% in one year | null | null |
C0000765 | is_interpreted_by | C0005911 | Excessive body weight gain | Body Weight Changes | null | A clinical manifestation consisting of alterations in an individual's weight from his or her norm. |
C0000765 | mapped_from | C0332544 | Excessive body weight gain | Abnormal weight gain | null | null |
C0000765 | is_interpreted_by | C0424655 | Excessive body weight gain | Weight trend | null | null |
C0000765 | interpretation_of | C0442802 | Excessive body weight gain | Excessive (qualifier value) | null | Beyond normal limits; unrestrained. |
C0000765 | is_interpreted_by | C1261467 | Excessive body weight gain | Body weight measure | null | null |
C0000765 | is_interpreted_by | C1285590 | Excessive body weight gain | Weight gain (amount) | null | null |
C0000765 | interpretation_of | C2711672 | Excessive body weight gain | Increased relative to previous | null | null |
C0000766 | co-occurs_with | C0003873 | X-ray abnormal | Rheumatoid Arthritis | null | A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have ... |
C0000766 | clinically_associated_with | C0011860 | X-ray abnormal | Diabetes Mellitus, Non-Insulin-Dependent | null | A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults... |
C0000766 | clinically_associated_with | C0014866 | X-ray abnormal | Esophageal Stenosis | null | A stricture of the ESOPHAGUS. Most are acquired but can be congenital. |
C0000766 | co-occurs_with | C0027543 | X-ray abnormal | Avascular necrosis of bone | null | Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. |
C0000766 | co-occurs_with | C0029443 | X-ray abnormal | Osteomyelitis | null | INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA. |
C0000766 | co-occurs_with | C0029453 | X-ray abnormal | Osteopenia | null | A decrease in bone mineral density with a T-score via DEXA (dual-energy X-ray absorptiometry) bone scan between -1 and -2.5. |
C0000766 | co-occurs_with | C0033802 | X-ray abnormal | Pseudogout | null | An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. |
C0000766 | clinically_associated_with | C0034079 | X-ray abnormal | Nodule of lung | null | Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. [https://orcid.org/0000-0002-4095-8489, PMID:26977460] |
C0000766 | clinically_associated_with | C0040128 | X-ray abnormal | Thyroid Diseases | null | Pathological processes involving the THYROID GLAND. |
C0000766 | clinically_associated_with | C0546176 | X-ray abnormal | sickle cell pain crisis | null | null |
C0000766 | inverse_isa | C0740845 | X-ray abnormal | Imaging problem | null | null |
C0000766 | clinically_associated_with | C0741154 | X-ray abnormal | AORTA ABDOMINAL ANEURYSM WITH THROMBUS | null | null |
C0000766 | co-occurs_with | C0743886 | X-ray abnormal | FEMUR HEAD BONY INFARCT | null | null |
C0000766 | co-occurs_with | C0743894 | X-ray abnormal | FEMUR LUCENCY | null | null |
C0000766 | co-occurs_with | C0744917 | X-ray abnormal | HIP BONE ISLAND | null | null |
C0000766 | co-occurs_with | C0745998 | X-ray abnormal | LUMBAR SPINE DEGENERATIVE CHANGES | null | null |
C0000766 | clinically_associated_with | C0749493 | X-ray abnormal | TIBIA FRACTURE ORIF | null | null |
C0000766 | co-occurs_with | C0749500 | X-ray abnormal | TIBIA MIDSHAFT FRACTURE | null | null |
C0000766 | co-occurs_with | C4551516 | X-ray abnormal | Hip pain | null | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. [https://orcid.org/0000-0002-0003-6754] |
C0000766 | classified_as | C0028315 | X-ray abnormal | Nonspecific abnormal findings on radiological and other examination of other sites of body | null | null |
C0000766 | classified_as | C0159085 | X-ray abnormal | Nonspecific (abnormal) findings on radiological and other examination of body structure | null | null |
C0000766 | classified_as | C0159093 | X-ray abnormal | Nonspecific (abnormal) findings on radiological and other examination of musculoskeletal system | null | null |
C0000767 | classifies | C0034933 | Reflexes abnormal NEC | Reflex, Abnormal | null | An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. |
C0000767 | has_member | C1964000 | Reflexes abnormal NEC | Guillain-Barre syndrome (SMQ) | null | Guillain-Barre syndrome (GBS) is an immune-mediated, acute inflammatory demyelinating polyneuropathy (AIDP). Condition commonly follows a viral or mycoplasmal illness affecting the upper respiratory or alimentary tracts. Other antecedent events include certain vaccinations. Immune responses directed toward the infectin... |
C0000767 | has_member | C1964001 | Reflexes abnormal NEC | Noninfectious encephalitis (SMQ) | null | Encephalitis is defined as inflammation of the brain. Commonly has an infectious etiology. May also be drug-induced (focus of this SMQ). Mixed disorders such as encephalomyelitis, encephalomyeloradiculitis, or encephalo-myelopathy may present with overlapping symptoms. Signs and symptoms include: acute febrile illness ... |
C0000767 | has_member | C1964003 | Reflexes abnormal NEC | Noninfectious meningitis (SMQ) | null | Meningitis is defined as an inflammation of the meninges. Commonly has an infectious etiology. May also be drug-induced (focus of this SMQ). 1) Aseptic meningitis: Characterized by CSF mononuclear pleocytosis and an absence of bacteria on examination and culture. May be caused by viruses. Rare but well-recognized compl... |
C0000768 | co-occurs_with | C0013080 | Congenital Abnormality | Down Syndrome | Malformations of organs or body parts during development in utero. | A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger... |
C0000768 | co-occurs_with | C0018989 | Congenital Abnormality | Hemiparesis | Malformations of organs or body parts during development in utero. | Weakness or incomplete paralysis of either the left or right side of the body. |
C0000768 | clinically_associated_with | C0032961 | Congenital Abnormality | Pregnancy | Malformations of organs or body parts during development in utero. | The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. |
C0000768 | co-occurs_with | C0080178 | Congenital Abnormality | Spina Bifida | Malformations of organs or body parts during development in utero. | Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete f... |
C0000768 | clinically_associated_with | C0149973 | Congenital Abnormality | Intrauterine pregnancy | Malformations of organs or body parts during development in utero. | null |
C0000768 | clinically_associated_with | C0242356 | Congenital Abnormality | Databases | Malformations of organs or body parts during development in utero. | An information set with a regular structure. Although it can be applied to any set of information the term was invented to refer to computerized data, and is used almost exclusively in computing. |
C0000768 | co-occurs_with | C0410916 | Congenital Abnormality | Neonatal Death | Malformations of organs or body parts during development in utero. | The death of a live-born INFANT less than 28 days of age. |
C0000768 | inverse_isa | C0566639 | Congenital Abnormality | Pregnancy problem | Malformations of organs or body parts during development in utero. | null |
C0000768 | co-occurs_with | C0596706 | Congenital Abnormality | Hip surgery | Malformations of organs or body parts during development in utero. | procedures performed on the hip, used in the treatment of disease, injuries, or deformities. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.