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 | C0265428 | Congenital Abnormality | Chromosome 9, partial trisomy 9p | Malformations of organs or body parts during development in utero. | Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, down... |
C0000768 | has_associated_morphology | C0265429 | Congenital Abnormality | 9q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265430 | Congenital Abnormality | Ring chromosome 9 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. |
C0000768 | has_associated_morphology | C0265431 | Congenital Abnormality | Partial tetrasomy of chromosome 9 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265432 | Congenital Abnormality | Anomaly of chromosome pair 10 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265433 | Congenital Abnormality | 10p partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265435 | Congenital Abnormality | Complete trisomy 10 syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265436 | Congenital Abnormality | 10p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265437 | Congenital Abnormality | 10q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265438 | Congenital Abnormality | Ring chromosome 10 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease an... |
C0000768 | has_associated_morphology | C0265439 | Congenital Abnormality | Anomaly of chromosome pair 11 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265442 | Congenital Abnormality | 11p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265443 | Congenital Abnormality | 11q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265444 | Congenital Abnormality | Ring chromosome 11 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have be... |
C0000768 | has_associated_morphology | C0265445 | Congenital Abnormality | Anomaly of chromosome pair 12 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265446 | Congenital Abnormality | 12p partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265447 | Congenital Abnormality | 12p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265448 | Congenital Abnormality | 12q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265449 | Congenital Abnormality | Pallister-Killian syndrome | Malformations of organs or body parts during development in utero. | Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. |
C0000768 | has_associated_morphology | C0265450 | Congenital Abnormality | Anomaly of chromosome pair 13 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265451 | Congenital Abnormality | Chromosome 13q deletion syndrome | Malformations of organs or body parts during development in utero. | A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. |
C0000768 | has_associated_morphology | C0265452 | Congenital Abnormality | 13p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265453 | Congenital Abnormality | 13q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265454 | Congenital Abnormality | Anomaly of chromosome pair 14 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265455 | Congenital Abnormality | Complete trisomy 14 syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265456 | Congenital Abnormality | 14q partial trisomy | Malformations of organs or body parts during development in utero. | Duplication of the long arm of chromosome 14 with delayed motor and mental development, craniofacial dysmorphism, failure to thrive, and hand and foot, cardiovascular, genitourinary, and other defects. |
C0000768 | has_associated_morphology | C0265457 | Congenital Abnormality | 14q partial proximal trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265458 | Congenital Abnormality | 14q partial distal trisomy syndrome | Malformations of organs or body parts during development in utero. | A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbo... |
C0000768 | has_associated_morphology | C0265459 | Congenital Abnormality | Anomaly of chromosome pair 15 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265460 | Congenital Abnormality | 15q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265461 | Congenital Abnormality | 15q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265462 | Congenital Abnormality | Anomaly of chromosome pair 16 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265463 | Congenital Abnormality | 16q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265464 | Congenital Abnormality | Complete trisomy 16 syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265465 | Congenital Abnormality | 16p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265466 | Congenital Abnormality | 16q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265467 | Congenital Abnormality | Anomaly of chromosome pair 17 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265468 | Congenital Abnormality | 17p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265469 | Congenital Abnormality | 17q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265470 | Congenital Abnormality | Anomaly of chromosome pair 18 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265471 | Congenital Abnormality | 18p partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265472 | Congenital Abnormality | 18q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265473 | Congenital Abnormality | 18p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265474 | Congenital Abnormality | 18q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265475 | Congenital Abnormality | Ring chromosome 18 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial featu... |
C0000768 | has_associated_morphology | C0265476 | Congenital Abnormality | Anomaly of chromosome pair 19 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265477 | Congenital Abnormality | 19q partial trisomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265478 | Congenital Abnormality | Anomaly of chromosome pair 20 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265479 | Congenital Abnormality | Chromosome 20, trisomy | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalit... |
C0000768 | has_associated_morphology | C0265480 | Congenital Abnormality | 20p partial trisomy syndrome | Malformations of organs or body parts during development in utero. | Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal ... |
C0000768 | has_associated_morphology | C0265481 | Congenital Abnormality | 20q partial trisomy | Malformations of organs or body parts during development in utero. | Duplication of the long arm of chromosome 20. The phenotype usually consists of brachycephaly, epicanthus, anteverted nostrils, short neck, vertical chin dimple, and congenital heart defect or murmur. Delayed development growth, speech, motor, and social interactions in some cases. |
C0000768 | has_associated_morphology | C0265482 | Congenital Abnormality | Ring Chromosome 20 Syndrome | Malformations of organs or body parts during development in utero. | Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. |
C0000768 | has_associated_morphology | C0265483 | Congenital Abnormality | Anomaly of chromosome pair 21 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265484 | Congenital Abnormality | Complete monosomy 21 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265485 | Congenital Abnormality | 21q partial monosomy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265486 | Congenital Abnormality | 21q partial trisomy | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265487 | Congenital Abnormality | Ring chromosome 21 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinod... |
C0000768 | has_associated_morphology | C0265488 | Congenital Abnormality | Anomaly of chromosome pair 22 | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265489 | Congenital Abnormality | 22q partial monosomy | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265490 | Congenital Abnormality | Trisomy 22 | Malformations of organs or body parts during development in utero. | A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells. |
C0000768 | has_associated_morphology | C0265491 | Congenital Abnormality | 22q partial trisomy | Malformations of organs or body parts during development in utero. | Duplication of the long arm of chromosome 22. Clinical characteristics vary with the karyotype and may include craniofacial, ocular, and genital abnormalities and developmental delay. |
C0000768 | has_associated_morphology | C0265492 | Congenital Abnormality | Ring chromosome 22 syndrome | Malformations of organs or body parts during development in utero. | An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. |
C0000768 | has_associated_morphology | C0265493 | Congenital Abnormality | Cat eye syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a ... |
C0000768 | has_associated_morphology | C0265494 | Congenital Abnormality | Anomaly of chromosome Y | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265495 | Congenital Abnormality | Anomaly of chromosome X | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265496 | Congenital Abnormality | Tetrasomy X | Malformations of organs or body parts during development in utero. | A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay a... |
C0000768 | has_associated_morphology | C0265497 | Congenital Abnormality | 49,XXXXX syndrome | Malformations of organs or body parts during development in utero. | A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes. |
C0000768 | has_associated_morphology | C0265498 | Congenital Abnormality | XXXY syndrome | Malformations of organs or body parts during development in utero. | The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. |
C0000768 | has_associated_morphology | C0265499 | Congenital Abnormality | 49,XXXXY Syndrome | Malformations of organs or body parts during development in utero. | The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. |
C0000768 | has_associated_morphology | C0265500 | Congenital Abnormality | Sex phenotype-karyotype dissociation syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265505 | Congenital Abnormality | Triploidy, diploidy, mixoploidy syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265509 | Congenital Abnormality | Congenital anomaly of skeletal bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265515 | Congenital Abnormality | Acephalocheiria | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265517 | Congenital Abnormality | Congenital anomaly of skeletal muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265518 | Congenital Abnormality | Congenital absence of skeletal muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265520 | Congenital Abnormality | Amyotrophia congenita | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265521 | Congenital Abnormality | Congenital anomaly of muscle AND/OR tendon | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265523 | Congenital Abnormality | congenital articular rigidity and myopathy | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265525 | Congenital Abnormality | Splayleg in piglets | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265525 | Congenital Abnormality | Splayleg in piglets | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265527 | Congenital Abnormality | Congenital anomaly of skull | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265528 | Congenital Abnormality | Congenital depression in skull | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265531 | Congenital Abnormality | Congenital hypertrophy of sphenoid bone | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265533 | Congenital Abnormality | Congenital deformity of forehead | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265535 | Congenital Abnormality | Trigonocephaly | Malformations of organs or body parts during development in utero. | Premature fusion of the metopic suture. |
C0000768 | has_associated_morphology | C0265536 | Congenital Abnormality | Imperfect fusion of skull | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265537 | Congenital Abnormality | Craniolacunia | Malformations of organs or body parts during development in utero. | A congenital abnormality characterized by round or oval shaped defects in the membranous skull vault resulting in non-ossified, honey comb-like areas in the calvaria. |
C0000768 | has_associated_morphology | C0265543 | Congenital Abnormality | Congenital anomaly of face bones | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265547 | Congenital Abnormality | Longitudinal deficiency of limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265548 | Congenital Abnormality | Meromicrosomia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265551 | Congenital Abnormality | Dimelia | Malformations of organs or body parts during development in utero. | Congenital duplication of all or part of a limb. [] |
C0000768 | has_associated_morphology | C0265555 | Congenital Abnormality | Brachymetapody | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265556 | Congenital Abnormality | Brachyphalangia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265561 | Congenital Abnormality | Congenital dislocation of elbow | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265562 | Congenital Abnormality | Congenital dislocation of glenohumeral joint | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265565 | Congenital Abnormality | Congenital pseudarthrosis of clavicle | Malformations of organs or body parts during development in utero. | A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle. |
C0000768 | has_associated_morphology | C0265566 | Congenital Abnormality | Reduction deformity of upper limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265572 | Congenital Abnormality | Congenital absence of forearm, including hand and fingers | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265577 | Congenital Abnormality | Longitudinal deficiency of humerus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0265579 | Congenital Abnormality | Longitudinal deficiency of radius AND ulna | Malformations of organs or body parts during development in utero. | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.