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	has_associated_morphology	C0266609	Congenital Abnormality	Accessory tragus	Malformations of organs or body parts during development in utero.	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. [eom:095679c21044c851]
C0000768	has_associated_morphology	C0266610	Congenital Abnormality	Preauricular dimple	Malformations of organs or body parts during development in utero.	Small indentation anterior to the insertion of the ear. [https://orcid.org/0009-0006-4530-3154, PMID:19152421]
C0000768	has_associated_morphology	C0266617	Congenital Abnormality	Congenital anomaly of face	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266619	Congenital Abnormality	Potter's facies	Malformations of organs or body parts during development in utero.	A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266623	Congenital Abnormality	Congenital anomaly of neck	Malformations of organs or body parts during development in utero.	An abnormality of the neck. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266624	Congenital Abnormality	Sinus of branchial cleft (disorder)	Malformations of organs or body parts during development in utero.	A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial ne...
C0000768	has_associated_morphology	C0266625	Congenital Abnormality	Congenital preauricular sinus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266627	Congenital Abnormality	Congenital cervicoaural fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266629	Congenital Abnormality	Congenital anomaly of the hematopoietic system	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266631	Congenital Abnormality	Accessory spleen	Malformations of organs or body parts during development in utero.	An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266632	Congenital Abnormality	Ectopic spleen	Malformations of organs or body parts during development in utero.	An abnormal (non-anatomic) location of the spleen. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0266633	Congenital Abnormality	Ectopic splenic tissue	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266634	Congenital Abnormality	Congenital splenomegaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266635	Congenital Abnormality	Congenital lobulation of spleen	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266636	Congenital Abnormality	Splenogonadal fusion	Malformations of organs or body parts during development in utero.	A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ecto...
C0000768	has_associated_morphology	C0266640	Congenital Abnormality	Cervical thymic remnant	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266644	Congenital Abnormality	Situs inversus abdominalis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266645	Congenital Abnormality	Situs inversus thoracis	Malformations of organs or body parts during development in utero.	A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs.
C0000768	has_associated_morphology	C0266647	Congenital Abnormality	Congenital anomalies of fetus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266649	Congenital Abnormality	Nodular embryo	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266650	Congenital Abnormality	Cylindrical embryo	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266651	Congenital Abnormality	Stunted embryo	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266652	Congenital Abnormality	abnormal fetus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266656	Congenital Abnormality	Frog fetus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266657	Congenital Abnormality	Immature fetus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266663	Congenital Abnormality	Notomelus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266664	Congenital Abnormality	Ectopic fetus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0266672	Congenital Abnormality	Amyelencephalus	Malformations of organs or body parts during development in utero.	Congenital absence of the spinal cord and brain
C0000768	has_associated_morphology	C0266796	Congenital Abnormality	Congenital hypoplasia of umbilical artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267357	Congenital Abnormality	Acquired megaduodenum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267497	Congenital Abnormality	Meckel's diverticulitis	Malformations of organs or body parts during development in utero.	Inflammation of a congenital diverticulum of the lower intestine.
C0000768	has_associated_morphology	C0267704	Congenital Abnormality	Umbilical hernia without obstruction or gangrene	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267705	Congenital Abnormality	Paraumbilical hernia with gangrene	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267706	Congenital Abnormality	Umbilical hernia with gangrene AND obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267707	Congenital Abnormality	Paraumbilical hernia with gangrene AND obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267708	Congenital Abnormality	Umbilical hernia with obstruction, without gangrene	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267709	Congenital Abnormality	Hepatomphalocele	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267831	Congenital Abnormality	Microhepatia (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267857	Congenital Abnormality	Calculus of cystic duct with acute cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267869	Congenital Abnormality	Bile duct calculus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267870	Congenital Abnormality	Calculus of bile duct without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267871	Congenital Abnormality	Calculus of bile duct with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267872	Congenital Abnormality	Calculus of common duct without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267873	Congenital Abnormality	Calculus of common duct with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267876	Congenital Abnormality	Calculus of hepatic duct without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267877	Congenital Abnormality	Calculus of hepatic duct with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267882	Congenital Abnormality	Calculus of bile duct with chronic cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267883	Congenital Abnormality	Calculus of bile duct with chronic cholecystitis without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267884	Congenital Abnormality	Calculus of bile duct with chronic cholecystitis with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267885	Congenital Abnormality	Calculus of common bile duct with chronic cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267886	Congenital Abnormality	Calculus of common bile duct with chronic cholecystitis without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267887	Congenital Abnormality	Calculus of common bile duct with chronic cholecystitis with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267888	Congenital Abnormality	Calculus of bile duct with acute cholecystitis without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267889	Congenital Abnormality	Calculus of common bile duct with acute cholecystitis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267890	Congenital Abnormality	Calculus of common bile duct with acute cholecystitis without obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267891	Congenital Abnormality	Calculus of common bile duct with acute cholecystitis with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0267961	Congenital Abnormality	Congenital pancreatic trypsin deficiency	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268135	Congenital Abnormality	Xeroderma pigmentosum, group A	Malformations of organs or body parts during development in utero.	Xeroderma pigmentosum caused by bi-allelic mutations in XPA gene.
C0000768	has_associated_morphology	C0268136	Congenital Abnormality	Xeroderma pigmentosum, group B	Malformations of organs or body parts during development in utero.	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC3 gene.
C0000768	has_associated_morphology	C0268138	Congenital Abnormality	Xeroderma Pigmentosum, Complementation Group D	Malformations of organs or body parts during development in utero.	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC2 gene.
C0000768	has_associated_morphology	C0268140	Congenital Abnormality	Xeroderma pigmentosum, group F	Malformations of organs or body parts during development in utero.	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC4 gene.
C0000768	has_associated_morphology	C0268141	Congenital Abnormality	Xeroderma pigmentosum, group G	Malformations of organs or body parts during development in utero.	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC5 gene.
C0000768	has_associated_morphology	C0268143	Congenital Abnormality	Disorder of central nervous system due to xeroderma pigmentosum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268144	Congenital Abnormality	Non-neurologic xeroderma pigmentosum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268145	Congenital Abnormality	Glycogen storage disease, hepatic form	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268241	Congenital Abnormality	Pancreatic colipase deficiency	Malformations of organs or body parts during development in utero.	A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no f...
C0000768	has_associated_morphology	C0268297	Congenital Abnormality	Pseudovaginal Perineoscrotal Hypospadias	Malformations of organs or body parts during development in utero.	A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
C0000768	has_associated_morphology	C0268350	Congenital Abnormality	Cutis Laxa, Autosomal Dominant	Malformations of organs or body parts during development in utero.	A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
C0000768	has_associated_morphology	C0268351	Congenital Abnormality	Cutis Laxa, Autosomal Recessive, Type I	Malformations of organs or body parts during development in utero.	A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
C0000768	has_associated_morphology	C0268368	Congenital Abnormality	Progressive recessive dystrophic epidermolysis bullosa	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268371	Congenital Abnormality	Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268373	Congenital Abnormality	Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268374	Congenital Abnormality	Adult junctional epidermolysis bullosa (disorder)	Malformations of organs or body parts during development in utero.	A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutan...
C0000768	has_associated_morphology	C0268375	Congenital Abnormality	Autosomal dominant epidermolysis bullosa simplex	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268425	Congenital Abnormality	Alstrom Syndrome	Malformations of organs or body parts during development in utero.	Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include T...
C0000768	has_associated_morphology	C0268503	Congenital Abnormality	Autosomal recessive ocular albinism	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268504	Congenital Abnormality	Ocular albinism-lentigines-deafness syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0268621	Congenital Abnormality	Hepatic methionine adenosyltransferase deficiency	Malformations of organs or body parts during development in utero.	A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.
C0000768	has_associated_morphology	C0268800	Congenital Abnormality	Simple renal cyst	Malformations of organs or body parts during development in utero.	An isolated cyst of the kidney. [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
C0000768	has_associated_morphology	C0269170	Congenital Abnormality	Torsion of accessory fallopian tube	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269235	Congenital Abnormality	Female infertility associated with congenital anomaly of uterus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269687	Congenital Abnormality	Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269722	Congenital Abnormality	Fetal disproportion due to fetal myelomeningocele	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269729	Congenital Abnormality	Bicornuate uterus affecting pregnancy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269766	Congenital Abnormality	Fetal or suspected fetal anencephaly affecting management of mother	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0269768	Congenital Abnormality	Fetal or suspected fetal spina bifida, with myelomeningocele, affecting management of mother	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270709	Congenital Abnormality	Rud Syndrome	Malformations of organs or body parts during development in utero.	Ichthyosis (usually present from infancy), mental retardation, epileptic seizures, hypogonadism with eunuchoid appearance, and occasional short stature. The male/female ratio is 2:1.
C0000768	has_associated_morphology	C0270771	Congenital Abnormality	Syringobulbia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270772	Congenital Abnormality	Syringomyelobulbia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270952	Congenital Abnormality	Muscular Dystrophy, Oculopharyngeal	Malformations of organs or body parts during development in utero.	An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
C0000768	has_associated_morphology	C0270962	Congenital Abnormality	Multi-core congenital myopathy	Malformations of organs or body parts during development in utero.	A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
C0000768	has_associated_morphology	C0270963	Congenital Abnormality	Myotubular myopathy with type I atrophy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270965	Congenital Abnormality	Mixed congenital myopathy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270966	Congenital Abnormality	Congenital myopathy with abnormal subcellular organelles	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0270968	Congenital Abnormality	Limb-girdle muscular dystrophy type 2H	Malformations of organs or body parts during development in utero.	A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertro...
C0000768	has_associated_morphology	C0270969	Congenital Abnormality	Zebra body myopathy	Malformations of organs or body parts during development in utero.	Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i&...
C0000768	has_associated_morphology	C0270971	Congenital Abnormality	Floppy infant syndrome	Malformations of organs or body parts during development in utero.	A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant.
C0000768	has_associated_morphology	C0271330	Congenital Abnormality	Encephalocele of orbit	Malformations of organs or body parts during development in utero.	A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction. []
C0000768	has_associated_morphology	C0271706	Congenital Abnormality	Hyperplasia of pancreatic islet beta cell	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0271717	Congenital Abnormality	Hyperplasia of islet alpha cells with glucagon excess	Malformations of organs or body parts during development in utero.	null

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