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 | C0265933 | Congenital Abnormality | Absence of inferior vena cava | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265934 | Congenital Abnormality | Congenital stenosis of inferior vena cava | Malformations of organs or body parts during development in utero. | A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdomi... |
C0000768 | has_associated_morphology | C0265935 | Congenital Abnormality | Congenital anomaly of artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265937 | Congenital Abnormality | Congenital atresia of artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265938 | Congenital Abnormality | Congenital stricture of artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265940 | Congenital Abnormality | Double artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265942 | Congenital Abnormality | Peripheral congenital arteriovenous aneurysm | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265943 | Congenital Abnormality | Congenital anomaly of cerebral artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265945 | Congenital Abnormality | Congenital aneurysm of anterior communicating artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265947 | Congenital Abnormality | Anomalous origin of right subclavian artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265948 | Congenital Abnormality | Origin of innominate artery from left side of aortic arch | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265949 | Congenital Abnormality | Multiple renal arteries | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265950 | Congenital Abnormality | Venous malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265952 | Congenital Abnormality | Congenital atresia of vein | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265953 | Congenital Abnormality | Congenital phlebectasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265955 | Congenital Abnormality | Persistent left posterior cardinal vein | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265961 | Congenital Abnormality | Erythrokeratodermia variabilis | Malformations of organs or body parts during development in utero. | An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals ofte... |
C0000768 | has_associated_morphology | C0265962 | Congenital Abnormality | Ichthyosis linearis circumflexa | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265963 | Congenital Abnormality | Congenital keratoderma | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265964 | Congenital Abnormality | Mutilating keratoderma | Malformations of organs or body parts during development in utero. | Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional fe... |
C0000768 | has_associated_morphology | C0265965 | Congenital Abnormality | Dyskeratosis Congenita | Malformations of organs or body parts during development in utero. | A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr... |
C0000768 | has_associated_morphology | C0265966 | Congenital Abnormality | Hereditary benign intraepithelial dyskeratosis | Malformations of organs or body parts during development in utero. | A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in H... |
C0000768 | has_associated_morphology | C0265967 | Congenital Abnormality | Porokeratosis of Mibelli, plaque type | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265968 | Congenital Abnormality | Porokeratosis of Mibelli, superficial disseminated type | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265969 | Congenital Abnormality | Porokeratosis of Mibelli, linear unilateral type | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265970 | Congenital Abnormality | Porokeratosis, Disseminated Superficial Actinic | Malformations of organs or body parts during development in utero. | A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. |
C0000768 | has_associated_morphology | C0265971 | Congenital Abnormality | Acrokeratosis Verruciformis of Hopf | Malformations of organs or body parts during development in utero. | An alleleic variant of Darier's disease. |
C0000768 | has_associated_morphology | C0265972 | Congenital Abnormality | Congenital skin fragility of animals | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265972 | Congenital Abnormality | Congenital skin fragility of animals | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265974 | Congenital Abnormality | Birthmark | Malformations of organs or body parts during development in utero. | <p>Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. <a href="https://medlineplus.g... |
C0000768 | has_associated_morphology | C0265977 | Congenital Abnormality | Congenital cutaneous angiomatosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265979 | Congenital Abnormality | Fibrous Hamartoma of Infancy | Malformations of organs or body parts during development in utero. | A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. |
C0000768 | has_associated_morphology | C0265982 | Congenital Abnormality | Nevus anemicus | Malformations of organs or body parts during development in utero. | A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surr... |
C0000768 | has_associated_morphology | C0265985 | Congenital Abnormality | Mongolian Spot | Malformations of organs or body parts during development in utero. | A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood. |
C0000768 | has_associated_morphology | C0265987 | Congenital Abnormality | Nevus comedonicus | Malformations of organs or body parts during development in utero. | A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. |
C0000768 | has_associated_morphology | C0265988 | Congenital Abnormality | Congenital accessory skin tag | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265989 | Congenital Abnormality | Congenital scar | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265991 | Congenital Abnormality | Congenital anomaly of hair | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265994 | Congenital Abnormality | Persistent lanugo | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265996 | Congenital Abnormality | Bayonet hair | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265997 | Congenital Abnormality | Congenital anomaly of nail | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265999 | Congenital Abnormality | Congenital clubnail | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266001 | Congenital Abnormality | Congenital leukonychia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266003 | Congenital Abnormality | Subungual fibroma | Malformations of organs or body parts during development in utero. | The presence of fibromata beneath finger or toenails. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266004 | Congenital Abnormality | Knuckle pads, leuconychia and sensorineural deafness | Malformations of organs or body parts during development in utero. | A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness. |
C0000768 | has_associated_morphology | C0266006 | Congenital Abnormality | Pili torti-deafness syndrome | Malformations of organs or body parts during development in utero. | Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. |
C0000768 | has_associated_morphology | C0266007 | Congenital Abnormality | Congenital anomaly of subcutaneous tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266008 | Congenital Abnormality | Congenital anomaly of breast | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266012 | Congenital Abnormality | Ectopic breast tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266013 | Congenital Abnormality | Congenital hypoplasia of breast | Malformations of organs or body parts during development in utero. | Underdevelopment of the breast. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266014 | Congenital Abnormality | Congenital inversion of nipple | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266015 | Congenital Abnormality | Congenital digestive system anomalies | Malformations of organs or body parts during development in utero. | Congenital structural abnormalities of the DIGESTIVE SYSTEM. |
C0000768 | has_associated_morphology | C0266017 | Congenital Abnormality | Congenital absence of alimentary tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266018 | Congenital Abnormality | Congenital partial absence of alimentary tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266020 | Congenital Abnormality | Congenital malposition of digestive organs | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266021 | Congenital Abnormality | Other specified congenital malformations of upper alimentary tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266073 | Congenital Abnormality | Congenital asymmetry of jaw | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266076 | Congenital Abnormality | Maxillary prognathism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266077 | Congenital Abnormality | Mandibular retrognathism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266079 | Congenital Abnormality | Congenital macrognathism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266080 | Congenital Abnormality | Congenital mandibular hyperplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266094 | Congenital Abnormality | Congenital macrocheilia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266101 | Congenital Abnormality | Primordial cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266103 | Congenital Abnormality | Naso-palatine duct cyst | Malformations of organs or body parts during development in utero. | A non-odontogenic cyst of developmental origin that arises in the midline of the anterior maxilla. It is found exclusively in the midline of the anterior hard palate. (WHO 2017) |
C0000768 | has_associated_morphology | C0266106 | Congenital Abnormality | Median mandibular cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266113 | Congenital Abnormality | Epitheliogenesis imperfecta lingua bovis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266115 | Congenital Abnormality | Lethal glossopharyngeal defect | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266126 | Congenital Abnormality | Congenital anomaly of esophagus | Malformations of organs or body parts during development in utero. | A structural abnormality of the esophagus. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266132 | Congenital Abnormality | Congenital displacement of esophagus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266133 | Congenital Abnormality | Congenital diverticulum of esophagus | Malformations of organs or body parts during development in utero. | A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory ... |
C0000768 | has_associated_morphology | C0266135 | Congenital Abnormality | Congenital duplication of esophagus | Malformations of organs or body parts during development in utero. | A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. [https://orcid.org/0000-0002-0736-9199, PMID:10464795] |
C0000768 | has_associated_morphology | C0266137 | Congenital Abnormality | Congenital esophagobronchial fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266138 | Congenital Abnormality | Congenital esophagotracheal fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266139 | Congenital Abnormality | H-type congenital tracheoesophageal fistula | Malformations of organs or body parts during development in utero. | Congenital tracheoesophageal fistula without esophageal atresia. |
C0000768 | has_associated_morphology | C0266140 | Congenital Abnormality | Vascular compression of esophagus by aberrant artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266141 | Congenital Abnormality | Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266142 | Congenital Abnormality | Congenital anomaly of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266143 | Congenital Abnormality | Congenital cardiospasm | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266145 | Congenital Abnormality | Congenital hourglass stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266146 | Congenital Abnormality | Congenital displacement of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266147 | Congenital Abnormality | Congenital diverticulum of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0266151 | Congenital Abnormality | Congenital gastric perforation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266155 | Congenital Abnormality | Brunner's gland adenoma | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266156 | Congenital Abnormality | Congenital volvulus of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266157 | Congenital Abnormality | Congenital organoaxial volvulus of stomach | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266159 | Congenital Abnormality | Pyloric Atresia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266160 | Congenital Abnormality | Pyloric antral atresia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266162 | Congenital Abnormality | Congenital pyloric membrane | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266166 | Congenital Abnormality | Congenital duplication of intestine | Malformations of organs or body parts during development in utero. | A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266167 | Congenital Abnormality | Long tubular intestinal duplication | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266168 | Congenital Abnormality | Ectopic intestinal mucosa | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266169 | Congenital Abnormality | Congenital anomaly of small intestine | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266170 | Congenital Abnormality | Congenital absence of small intestine | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266172 | Congenital Abnormality | Congenital atresia of small intestine | Malformations of organs or body parts during development in utero. | A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction. |
C0000768 | has_associated_morphology | C0266173 | Congenital Abnormality | Congenital stenosis of small intestine | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0266174 | Congenital Abnormality | Duodenal atresia | Malformations of organs or body parts during development in utero. | A rare, non-syndromic intestinal malformation characterized by a complete but short segment obliteration of the duodenal lumen. |
C0000768 | has_associated_morphology | C0266175 | Congenital Abnormality | Jejunal Atresia | Malformations of organs or body parts during development in utero. | A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0266177 | Congenital Abnormality | Megaduodenum | Malformations of organs or body parts during development in utero. | Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. [] |
C0000768 | has_associated_morphology | C0266179 | Congenital Abnormality | Omphalocele with gangrene | Malformations of organs or body parts during development in utero. | null |
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