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 | C1274249 | Congenital Abnormality | Congenital vascular malformation due to inherited syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274286 | Congenital Abnormality | Acquired arteriovenous malformation of the skin | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274737 | Congenital Abnormality | Fordyce spots of buccal mucosa | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274792 | Congenital Abnormality | Congenital lower lip pits | Malformations of organs or body parts during development in utero. | A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secreti... |
C0000768 | has_associated_morphology | C1274795 | Congenital Abnormality | Urban Schosser Spohn syndrome | Malformations of organs or body parts during development in utero. | A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, a... |
C0000768 | has_associated_morphology | C1274811 | Congenital Abnormality | Patent vitelline duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274812 | Congenital Abnormality | Vitelline duct polyp | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274878 | Congenital Abnormality | Port-wine stain with associated anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1274879 | Congenital Abnormality | Port-wine stain with oculocutaneous melanosis | Malformations of organs or body parts during development in utero. | A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Sever... |
C0000768 | has_associated_morphology | C1274893 | Congenital Abnormality | Port-wine stain associated with spinal dysraphism | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1275077 | Congenital Abnormality | Port-wine stain in Rubinstein-Taybi syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1275078 | Congenital Abnormality | Acrocephalopolysyndactyly type 2 | Malformations of organs or body parts during development in utero. | A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of... |
C0000768 | has_associated_morphology | C1275079 | Congenital Abnormality | Sakati syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1275080 | Congenital Abnormality | Cardio-acral-facial syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1275081 | Congenital Abnormality | Cardio-facio-cutaneous syndrome | Malformations of organs or body parts during development in utero. | A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability. |
C0000768 | has_associated_morphology | C1275148 | Congenital Abnormality | Port-wine stain in proteus syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1276035 | Congenital Abnormality | Pena-Shokeir syndrome type I | Malformations of organs or body parts during development in utero. | The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity. |
C0000768 | has_associated_morphology | C1281879 | Congenital Abnormality | Multiple epiphyseal dysplasia tarda type IIIa | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1283306 | Congenital Abnormality | Mesonephric cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290475 | Congenital Abnormality | Congenital anomaly of nasal sinuses | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290501 | Congenital Abnormality | Congenital anomaly of oral mucosa | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290503 | Congenital Abnormality | Developmental anomaly of crown and root formation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290504 | Congenital Abnormality | Exaggerated cusp of tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290505 | Congenital Abnormality | Exaggerated cingulum of tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290506 | Congenital Abnormality | Abnormal crown of tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290507 | Congenital Abnormality | False anodontia | Malformations of organs or body parts during development in utero. | Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. |
C0000768 | has_associated_morphology | C1290508 | Congenital Abnormality | Abnormal number of teeth | Malformations of organs or body parts during development in utero. | The presence of an altered number of of teeth. [https://orcid.org/0000-0002-9338-3017] |
C0000768 | has_associated_morphology | C1290509 | Congenital Abnormality | Congenital absence of one tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290510 | Congenital Abnormality | Anodontia of primary dentition | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290511 | Congenital Abnormality | Anodontia of Permanent Dentition | Malformations of organs or body parts during development in utero. | A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C1290512 | Congenital Abnormality | Congenital hypodontia, multiple teeth, unrelated to systemic disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290513 | Congenital Abnormality | Congenital hypodontia, multiple teeth, related to systemic disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290514 | Congenital Abnormality | Familial hypodontia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290515 | Congenital Abnormality | Supernumerary deciduous tooth (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290516 | Congenital Abnormality | Supernumerary permanent tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290517 | Congenital Abnormality | Supernumerary tooth identifiable by tooth number | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290518 | Congenital Abnormality | Supernumerary tooth unidentifiable by tooth number | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290519 | Congenital Abnormality | Erupted mesiodens | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290520 | Congenital Abnormality | Impacted mesiodens | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290521 | Congenital Abnormality | Inverted mesiodens | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290522 | Congenital Abnormality | Multiple supernumerary teeth unrelated to systemic condition | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290523 | Congenital Abnormality | Multiple supernumerary teeth related to systemic condition | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290524 | Congenital Abnormality | Fusion of crown of teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290525 | Congenital Abnormality | Enamel spur | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290526 | Congenital Abnormality | Paired teeth microdontia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290527 | Congenital Abnormality | Single tooth microdontia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290528 | Congenital Abnormality | Multirooted tooth with divergent roots | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290529 | Congenital Abnormality | Multirooted tooth with convergent roots | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290530 | Congenital Abnormality | Lateral accessory root canals | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290535 | Congenital Abnormality | Intrinsic enamel discoloration of erythroblastosis fetalis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290536 | Congenital Abnormality | Amelogenesis imperfecta, hypoplastic type with microdontia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290546 | Congenital Abnormality | Localized enamel hypomineralization of undetermined etiology | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290547 | Congenital Abnormality | Localized enamel hypomineralization associated with localized trauma | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290548 | Congenital Abnormality | Localized enamel hypomineralization associated with localized infection | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290549 | Congenital Abnormality | Generalized enamel hypomineralization | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290550 | Congenital Abnormality | Reverse posterior crossbite, single tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290551 | Congenital Abnormality | Reverse posterior crossbite, multiple teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290552 | Congenital Abnormality | Tooth in buccoversion | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290553 | Congenital Abnormality | Tooth in linguoversion | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290554 | Congenital Abnormality | Crowding of teeth due to supernumerary teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290555 | Congenital Abnormality | Abnormal root proximity between adjacent teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290556 | Congenital Abnormality | Protrusion of tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290557 | Congenital Abnormality | Partially impacted tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290558 | Congenital Abnormality | Impacted tooth in soft tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290559 | Congenital Abnormality | Partially impacted tooth in bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290560 | Congenital Abnormality | Completely impacted tooth in bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290561 | Congenital Abnormality | Complicated impacted tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290576 | Congenital Abnormality | Congenital anomaly of palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290578 | Congenital Abnormality | Precocious exfoliation due to ectopic eruption of proximate tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290579 | Congenital Abnormality | Precocious exfoliation of teeth due to idiopathic root resorption | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290580 | Congenital Abnormality | Precocious exfoliation of teeth due to root resorption following trauma | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290584 | Congenital Abnormality | Failure of exfoliation of primary teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290585 | Congenital Abnormality | Failure of exfoliation associated with lack of succedaneous tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290586 | Congenital Abnormality | Failure of exfoliation associated with ectopic eruption of succedaneous tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290589 | Congenital Abnormality | Failure of tooth eruption associated with tooth impaction | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290590 | Congenital Abnormality | Hyperplastic tooth follicle | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290591 | Congenital Abnormality | Unilateral cleft of primary palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290592 | Congenital Abnormality | Bilateral cleft of primary palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290593 | Congenital Abnormality | Congenital commissural pits | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290594 | Congenital Abnormality | Aberrant insertion of labial frenulum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290596 | Congenital Abnormality | Palatal cyst of newborn | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290597 | Congenital Abnormality | Ectopic oral gastrointestinal cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290599 | Congenital Abnormality | Aberrant insertion of frenum of tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290600 | Congenital Abnormality | Congenital anomaly of uvula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290605 | Congenital Abnormality | Rudimentary uterus in male | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290606 | Congenital Abnormality | Cystic testicular dysplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290678 | Congenital Abnormality | Secondary dental arch length loss | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290679 | Congenital Abnormality | Dental arch length loss secondary to congenitally missing teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290680 | Congenital Abnormality | Dental arch length loss secondary to loss of primary precursors | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290681 | Congenital Abnormality | Dental arch length loss secondary to loss of permanent teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290682 | Congenital Abnormality | Dental arch length loss secondary to dental caries | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1290684 | Congenital Abnormality | Excessive dental arch length | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1298692 | Congenital Abnormality | Cleft lip and cleft of alveolar process of maxilla | Malformations of organs or body parts during development in utero. | Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. |
C0000768 | has_associated_morphology | C1299566 | Congenital Abnormality | Congenital anomaly of endocrine gonad | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1299568 | Congenital Abnormality | Congenital anomaly of endocrine testis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1299696 | Congenital Abnormality | Congenital anomaly of endocrine ovary | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1299883 | Congenital Abnormality | Congenital arthrogryposis caused by teratogen | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C1299889 | Congenital Abnormality | Hepatoportal microvascular dysplasia | Malformations of organs or body parts during development in utero. | A developmental defect characterized by underdevelopment of the portal vein. [] |
C0000768 | has_associated_morphology | C1299892 | Congenital Abnormality | Mittendorf dot | Malformations of organs or body parts during development in utero. | This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the d... |
C0000768 | has_associated_morphology | C1300205 | Congenital Abnormality | Neonatal osteosclerotic dysplasia | Malformations of organs or body parts during development in utero. | null |
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