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 | isa | C1401774 | Congenital Abnormality | Congenital short esophagus | Malformations of organs or body parts during development in utero. | Abnormal reduction in the length of the esophagus. [PMID:29262377] |
C0000768 | isa | C1827229 | Congenital Abnormality | Molded baby syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1832800 | Congenital Abnormality | Micromelic dwarfism Fryns type | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1846671 | Congenital Abnormality | Multiple Congenital Anomalies Syndrome with Cloverleaf Skull | Malformations of organs or body parts during development in utero. | This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turn... |
C0000768 | isa | C1852523 | Congenital Abnormality | Costocoracoid ligament congenitally short | Malformations of organs or body parts during development in utero. | A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral ... |
C0000768 | isa | C1854678 | Congenital Abnormality | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | Malformations of organs or body parts during development in utero. | A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present. |
C0000768 | isa | C1855499 | Congenital Abnormality | Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome | Malformations of organs or body parts during development in utero. | A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated. |
C0000768 | isa | C1856051 | Congenital Abnormality | Daish Hardman Lamont syndrome | Malformations of organs or body parts during development in utero. | A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. |
C0000768 | isa | C1856891 | Congenital Abnormality | Faciocardiomelic Dysplasia, Lethal | Malformations of organs or body parts during development in utero. | An extremely rare polymalformative syndrome. |
C0000768 | isa | C1859327 | Congenital Abnormality | Heart defects limb shortening | Malformations of organs or body parts during development in utero. | Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological ... |
C0000768 | isa | C1859359 | Congenital Abnormality | Camptodactyly Syndrome, Guadalajara, Type I | Malformations of organs or body parts during development in utero. | A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eru... |
C0000768 | isa | C1859371 | Congenital Abnormality | Campomelia Cumming type | Malformations of organs or body parts during development in utero. | The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas... |
C0000768 | isa | C1860119 | Congenital Abnormality | Acrofacial dysostosis Rodriguez type | Malformations of organs or body parts during development in utero. | A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Lim... |
C0000768 | isa | C1860166 | Congenital Abnormality | Acrorenal mandibular syndrome | Malformations of organs or body parts during development in utero. | A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. |
C0000768 | isa | C1861963 | Congenital Abnormality | Camptobrachydactyly | Malformations of organs or body parts during development in utero. | An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were als... |
C0000768 | isa | C1863753 | Congenital Abnormality | LIMB-MAMMARY SYNDROME | Malformations of organs or body parts during development in utero. | A rare type of ectodermal dysplasia. Less than 50 cases have been described in the literature so far. Clinically, the syndrome has characteristics of severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Clinical expression is extremely variable. Individuals with mild LMS have isola... |
C0000768 | isa | C1864852 | Congenital Abnormality | CATSHL syndrome | Malformations of organs or body parts during development in utero. | This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein,... |
C0000768 | isa | C1866745 | Congenital Abnormality | Splenogonadal fusion limb defects micrognatia | Malformations of organs or body parts during development in utero. | A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid... |
C0000768 | isa | C1997437 | Congenital Abnormality | Congenital flat back deformity | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2919350 | Congenital Abnormality | Congenital deformity of pharynx | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2931146 | Congenital Abnormality | Radio renal syndrome | Malformations of organs or body parts during development in utero. | A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no fur... |
C0000768 | isa | C2931516 | Congenital Abnormality | Plagiocephaly and X-linked mental retardation | Malformations of organs or body parts during development in utero. | This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. |
C0000768 | isa | C2931680 | Congenital Abnormality | Camptodactyly syndrome Guadalajara type 2 | Malformations of organs or body parts during development in utero. | An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears... |
C0000768 | isa | C2937353 | Congenital Abnormality | Congenital amputation of upper limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3164262 | Congenital Abnormality | Congenital deformity of mitral valve annulus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3164546 | Congenital Abnormality | Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3532237 | Congenital Abnormality | Congenital tortuosity of branch of aortic arch | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3840146 | Congenital Abnormality | Congenital positional plagiocephaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4018802 | Congenital Abnormality | Congenital skin contracture | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4081902 | Congenital Abnormality | Congenital deformity of right hand | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4081970 | Congenital Abnormality | Congenital internal torsion of tibia of left lower limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4081978 | Congenital Abnormality | Congenital deformity of left hand | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4081979 | Congenital Abnormality | Congenital internal torsion of tibia of right lower limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4274367 | Congenital Abnormality | Longitudinal deficiency of part of limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4274368 | Congenital Abnormality | Longitudinal deficiency of part of upper limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4302673 | Congenital Abnormality | Distal limb deficiency with micrognathia syndrome | Malformations of organs or body parts during development in utero. | Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects... |
C0000768 | isa | C4302906 | Congenital Abnormality | intellectual disability with cataract and kyphosis syndrome | Malformations of organs or body parts during development in utero. | This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nos... |
C0000768 | isa | C4303067 | Congenital Abnormality | Congenital microgastria with limb reduction defect syndrome | Malformations of organs or body parts during development in utero. | Syndrome with the association of microgastria and limb reduction defect. Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies. Isolated congenital microgastria is an extremely rare condition; only three cases have been reported in the literat... |
C0000768 | isa | C4303788 | Congenital Abnormality | Ehlers-Danlos syndrome kyphoscoliotic and deafness type | Malformations of organs or body parts during development in utero. | A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. |
C0000768 | isa | C4304834 | Congenital Abnormality | Congenital bilateral internal tibial torsion | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4518792 | Congenital Abnormality | Camptodactyly taurinuria syndrome | Malformations of organs or body parts during development in utero. | A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An au... |
C0000768 | isa | C4551485 | Congenital Abnormality | Clinodactyly | Malformations of organs or body parts during development in utero. | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [PMID:16252026] |
C0000768 | isa | C4707851 | Congenital Abnormality | Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome | Malformations of organs or body parts during development in utero. | A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal car... |
C0000768 | isa | C4749808 | Congenital Abnormality | Torticollis, keloids, cryptorchidism, renal dysplasia syndrome | Malformations of organs or body parts during development in utero. | An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pye... |
C0000768 | isa | C4750982 | Congenital Abnormality | Bilateral congenital deformity of hands | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4751068 | Congenital Abnormality | Bilateral congenital retroversion of femurs | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4759453 | Congenital Abnormality | Congenital deformity of left sternocleidomastoid muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4759455 | Congenital Abnormality | Congenital kyphosis of thoracic spine | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4759456 | Congenital Abnormality | Congenital kyphosis of cervical spine | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5190708 | Congenital Abnormality | Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome | Malformations of organs or body parts during development in utero. | A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate... |
C0000768 | isa | C5190778 | Congenital Abnormality | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome | Malformations of organs or body parts during development in utero. | An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoi... |
C0000768 | isa | C5190823 | Congenital Abnormality | Radial deficiency, tibial hypoplasia syndrome | Malformations of organs or body parts during development in utero. | A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no fu... |
C0000768 | isa | C5395359 | Congenital Abnormality | Bilateral cornea plana | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437767 | Congenital Abnormality | Congenital bowing of ulna | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5438515 | Congenital Abnormality | Congenital short ear | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5441717 | Congenital Abnormality | Congenital short bowel syndrome | Malformations of organs or body parts during development in utero. | A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. |
C0000768 | isa | C5567191 | Congenital Abnormality | Congenital deformity of bone of forearm | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5568908 | Congenital Abnormality | Congenital lordosis deformity of spine | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5680042 | Congenital Abnormality | Joint contractures, developmental delay, Pierre Robin syndrome | Malformations of organs or body parts during development in utero. | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations includ... |
C0000768 | isa | C5686564 | Congenital Abnormality | Congenital deformity of soft tissue | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5688131 | Congenital Abnormality | Congenital deformity of bony orbit | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5688132 | Congenital Abnormality | Congenital expansion of orbit | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5688134 | Congenital Abnormality | Congenital contraction of orbit | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5848327 | Congenital Abnormality | Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome | Malformations of organs or body parts during development in utero. | An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been describ... |
C0000768 | inverse_isa | C0302142 | Congenital Abnormality | Deformity | Malformations of organs or body parts during development in utero. | An anatomic abnormality that is either present at birth or appears later in life. |
C0000768 | was_a | C0431765 | Congenital Abnormality | Specified intrauterine postural deformity NEC | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0432176 | Congenital Abnormality | Congenital malformation of sternum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2107183 | Congenital Abnormality | nonteratogenic congenital deformity | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_morphology_of | C0302142 | Congenital Abnormality | Deformity | Malformations of organs or body parts during development in utero. | An anatomic abnormality that is either present at birth or appears later in life. |
C0000768 | same_as | C0151491 | Congenital Abnormality | Congenital musculoskeletal anomalies | Malformations of organs or body parts during development in utero. | Congenital structural abnormalities and deformities of the musculoskeletal system. |
C0000768 | isa | C0010626 | Congenital Abnormality | Embryonic cyst | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0020636 | Congenital Abnormality | Congenital hypoplasia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0221210 | Congenital Abnormality | Congenital malrotation of intestine | Malformations of organs or body parts during development in utero. | A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. |
C0000768 | isa | C0266491 | Congenital Abnormality | Neuronal heterotopia | Malformations of organs or body parts during development in utero. | The presence of neuronal cells in an atypical anatomic site. |
C0000768 | isa | C0332866 | Congenital Abnormality | Congenital impairment, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332869 | Congenital Abnormality | Developmental immaturity | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332870 | Congenital Abnormality | Congenital dystrophy, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332871 | Congenital Abnormality | Congenital atrophy, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332872 | Congenital Abnormality | Congenital degeneration, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332873 | Congenital Abnormality | congenital hole | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332878 | Congenital Abnormality | Congenital contracture | Malformations of organs or body parts during development in utero. | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0332882 | Congenital Abnormality | congenital obstruction | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332887 | Congenital Abnormality | Congenital hypertrophy | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332894 | Congenital Abnormality | Congenital growth alteration, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332894 | Congenital Abnormality | Congenital growth alteration, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332907 | Congenital Abnormality | Congenital absence | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332923 | Congenital Abnormality | Congenital fistula, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332934 | Congenital Abnormality | Congenital malposition, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0332934 | Congenital Abnormality | Congenital malposition, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0333006 | Congenital Abnormality | congenital deficiency | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0333007 | Congenital Abnormality | Congenital pigmentation, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0542344 | Congenital Abnormality | Congenital opacity, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1265639 | Congenital Abnormality | Congenital fractures | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1265731 | Congenital Abnormality | Embryonal rest AND/OR persistent embryonic structure | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1299492 | Congenital Abnormality | Congenital developmental anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C1562630 | Congenital Abnormality | Congenital ectopia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2711843 | Congenital Abnormality | Congenital enlargement | Malformations of organs or body parts during development in utero. | null |
C0000768 | inverse_isa | C0332447 | Congenital Abnormality | Morphologically abnormal structure (morphologic abnormality) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0001193 | Congenital Abnormality | Apert syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. |
C0000768 | has_associated_morphology | C0002452 | Congenital Abnormality | Amelogenesis Imperfecta | Malformations of organs or body parts during development in utero. | A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION. |
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