Split (1)

train · 21.6M rows

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	C0685790	Congenital Abnormality	Congenital misalignment of palate rugae	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685791	Congenital Abnormality	Congenital protrusion of tongue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685793	Congenital Abnormality	Congenital dilatation of stomach	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685794	Congenital Abnormality	Congenital stenosis of stomach	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685797	Congenital Abnormality	Congenital atresia of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685798	Congenital Abnormality	Congenital hypoplasia of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685799	Congenital Abnormality	Congenital stenosis of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685800	Congenital Abnormality	Congenital diverticulum of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685801	Congenital Abnormality	Congenital fistula of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685802	Congenital Abnormality	Congenital dilatation of intestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685808	Congenital Abnormality	Supernumerary gallbladder	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685809	Congenital Abnormality	Congenital abnormal shape of gallbladder	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685811	Congenital Abnormality	Congenital abnormal shape of liver	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685814	Congenital Abnormality	Congenital abnormal fusion of liver lobes	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685818	Congenital Abnormality	Congenital abnormal fusion of adrenal glands	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685819	Congenital Abnormality	Congenital abnormal shape of adrenal gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685822	Congenital Abnormality	Congenital abnormal shape of kidney	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685823	Congenital Abnormality	Congenital absence of renal papilla	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685828	Congenital Abnormality	Congenital dilatation of urinary bladder	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685829	Congenital Abnormality	Congenital hypoplasia of urinary bladder	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685833	Congenital Abnormality	Congenital absence of genital tubercle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685836	Congenital Abnormality	Congenital hypoplasia of genital tubercle	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685840	Congenital Abnormality	Congenital hypoplasia of ovary	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685842	Congenital Abnormality	Congenital abnormal shape of ovary	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685846	Congenital Abnormality	Congenital hypoplasia of fallopian tube	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685850	Congenital Abnormality	Congenital abnormal shape of fallopian tube	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685852	Congenital Abnormality	Congenital abnormal shape of uterus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685853	Congenital Abnormality	Congenital atresia of uterus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685856	Congenital Abnormality	Congenital abnormal shape of testis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685858	Congenital Abnormality	Congenital absence of epididymis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685862	Congenital Abnormality	Congenital hypoplasia of vas deferens	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685864	Congenital Abnormality	Congenital abnormal shape of cerebrum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685865	Congenital Abnormality	Congenital abnormal shape of cerebellum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685868	Congenital Abnormality	Congenital absence of eye bulge	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685870	Congenital Abnormality	Congenital exophthalmos	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685871	Congenital Abnormality	Congenital hypoplasia of eye bulge	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685874	Congenital Abnormality	Congenital abnormal shape of inner ear	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685876	Congenital Abnormality	Congenital abnormal shape of pinna	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685877	Congenital Abnormality	Congenital abnormal shape of auditory ossicles	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685880	Congenital Abnormality	Congenital abnormal fusion of tympanic anulus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685881	Congenital Abnormality	Congenital abnormal shape of tympanic anulus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685884	Congenital Abnormality	Congenital hypoplasia of tympanic anulus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685888	Congenital Abnormality	Congenital abnormal shape of spleen	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685889	Congenital Abnormality	Splenic Hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685890	Congenital Abnormality	Congenital cleft of thymus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685891	Congenital Abnormality	Congenital hypoplasia of thymus	Malformations of organs or body parts during development in utero.	Underdevelopment of the thymus. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0685892	Congenital Abnormality	Congenital abnormal shape of thymus	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0685894	Congenital Abnormality	Congenital absence of thymus	Malformations of organs or body parts during development in utero.	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C0685896	Congenital Abnormality	Acephaly	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C0702169	Congenital Abnormality	Acrania	Malformations of organs or body parts during development in utero.	Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [https://orcid.org/0000-0002-0003-6754]
C0000768	isa	C0749420	Congenital Abnormality	Thyroid Agenesis	Malformations of organs or body parts during development in utero.	Absence of the thyroid gland in a newborn.
C0000768	isa	C0752244	Congenital Abnormality	Rathke Cleft Cysts	Malformations of organs or body parts during development in utero.	Rathke's pouch cysts are rarely symptomatic in the first two decades of life though they may produce symptoms in the third and fourth decades of life. When the cysts do present in the first decades of life, the symptoms are generally associated with diabetes insipidus or other conditions related to hypopituitarism.
C0000768	isa	C0795690	Congenital Abnormality	Congenital omphalocele	Malformations of organs or body parts during development in utero.	A congenital defect with major fissure in the ABDOMINAL WALL at the UMBILICUS resulting in the extrusion of VISCERA through the UMBILICUS. Unlike GASTROSCHISIS, omphalocele is covered with PERITONEUM but without overlying SKIN.
C0000768	isa	C0795873	Congenital Abnormality	Aldred syndrome	Malformations of organs or body parts during development in utero.	This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
C0000768	isa	C0795917	Congenital Abnormality	Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type	Malformations of organs or body parts during development in utero.	A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2)...
C0000768	isa	C0848558	Congenital Abnormality	Hypospadias	Malformations of organs or body parts during development in utero.	A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
C0000768	isa	C1261251	Congenital Abnormality	Agenesis of vagina	Malformations of organs or body parts during development in utero.	A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
C0000768	isa	C1263027	Congenital Abnormality	Cyst of Wolffian duct	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1267791	Congenital Abnormality	Accessory parathyroid gland	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1271219	Congenital Abnormality	Congenital ectopic pupil	Malformations of organs or body parts during development in utero.	A malposition of the pupil owing to a developmental defect of the iris. [https://orcid.org/0000-0001-8727-6592, https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C1274251	Congenital Abnormality	Developmental malformation of branchial arch	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1274737	Congenital Abnormality	Fordyce spots of buccal mucosa	Malformations of organs or body parts during development in utero.	null
C0000768	isa	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	isa	C1285201	Congenital Abnormality	Congenital anomaly of body cavity	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1285202	Congenital Abnormality	Congenital anomaly of body wall	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290455	Congenital Abnormality	Gynandromorphism syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290482	Congenital Abnormality	Congenital atresia of cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290483	Congenital Abnormality	Congenital stenosis of cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290484	Congenital Abnormality	Congenital cleft of cardiac valve	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290515	Congenital Abnormality	Supernumerary deciduous tooth (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290556	Congenital Abnormality	Protrusion of tooth	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290576	Congenital Abnormality	Congenital anomaly of palate	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290594	Congenital Abnormality	Aberrant insertion of labial frenulum	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290597	Congenital Abnormality	Ectopic oral gastrointestinal cyst	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290599	Congenital Abnormality	Aberrant insertion of frenum of tongue	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290830	Congenital Abnormality	Congenital absence of skeletal bone	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1290831	Congenital Abnormality	Congenital anomaly of visual system	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1298767	Congenital Abnormality	Congenital bony fusion of phalanges	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1301903	Congenital Abnormality	Cutaneous asthenia in dogs AND/OR cats	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1301903	Congenital Abnormality	Cutaneous asthenia in dogs AND/OR cats	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1302749	Congenital Abnormality	Congenital hamartoma	Malformations of organs or body parts during development in utero.	A hamartomatous lesion which is present at birth.
C0000768	isa	C1302790	Congenital Abnormality	Congenital malformation syndrome	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
C0000768	isa	C1303073	Congenital Abnormality	Nicolaides Baraitser syndrome	Malformations of organs or body parts during development in utero.	An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2. It is characterized by severe intellectual disability, early-onset seizures, and facial dysmorphia.
C0000768	isa	C1306503	Congenital Abnormality	Congenital exomphalos	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1306641	Congenital Abnormality	Accessory lacrimal gland disorder	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1313884	Congenital Abnormality	Congenital elephantiasis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1314883	Congenital Abnormality	Duplication of teeth	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1318558	Congenital Abnormality	Congenital melanocytic nevus	Malformations of organs or body parts during development in utero.	A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion.
C0000768	isa	C1321907	Congenital Abnormality	Congenital absence of parathyroid gland	Malformations of organs or body parts during development in utero.	Aplasia of the parathyroid gland. [https://orcid.org/0000-0002-0736-9199]
C0000768	isa	C1394315	Congenital Abnormality	Cyst of paramesonephric duct	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1531845	Congenital Abnormality	Congenital absence of heart structure	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1531846	Congenital Abnormality	Congenital failure of fusion between maxillary and mandibular processes	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1562689	Congenital Abnormality	Congenital hereditary endothelial dystrophy	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1737329	Congenital Abnormality	Dysmorphism	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C1842870	Congenital Abnormality	Chromosome 1p36 Deletion Syndrome	Malformations of organs or body parts during development in utero.	A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.
C0000768	isa	C1853490	Congenital Abnormality	22q13.3 Deletion Syndrome	Malformations of organs or body parts during development in utero.	A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
C0000768	isa	C1859405	Congenital Abnormality	Bowen-Conradi syndrome	Malformations of organs or body parts during development in utero.	A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
C0000768	isa	C1996981	Congenital Abnormality	Congenital hypoplasia of fovea centralis	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C2004462	Congenital Abnormality	Ectopic neuronal tissue (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	isa	C2004465	Congenital Abnormality	Congenital malformation of upper alimentary tract	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.