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	C0432101	Congenital Abnormality	Complete cleft of soft palate	Malformations of organs or body parts during development in utero.	Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula. [PMID:21331089, PMID:26171570]
C0000768	has_associated_morphology	C0432102	Congenital Abnormality	Incomplete cleft of soft palate	Malformations of organs or body parts during development in utero.	Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula. [PMID:21331089, PMID:26171570]
C0000768	has_associated_morphology	C0432103	Congenital Abnormality	Submucous cleft of hard palate	Malformations of organs or body parts during development in utero.	Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. [https://orcid.org/0000-0002-0736-9199, PMID:1977950...
C0000768	has_associated_morphology	C0432104	Congenital Abnormality	Occult submucous cleft palate	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432105	Congenital Abnormality	Cleft palate or cleft lip NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432176	Congenital Abnormality	Congenital malformation of sternum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432177	Congenital Abnormality	Other congenital anomalies of sternum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432178	Congenital Abnormality	Misshapen sternum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432194	Congenital Abnormality	Schneckenbecken dysplasia	Malformations of organs or body parts during development in utero.	Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
C0000768	has_associated_morphology	C0432200	Congenital Abnormality	Atelosteogenesis/diastrophic dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432201	Congenital Abnormality	Boomerang dysplasia	Malformations of organs or body parts during development in utero.	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
C0000768	has_associated_morphology	C0432204	Congenital Abnormality	Omodysplasia I	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432205	Congenital Abnormality	Omodysplasia II	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432206	Congenital Abnormality	Pseudodiastrophic dysplasia	Malformations of organs or body parts during development in utero.	Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Ps...
C0000768	has_associated_morphology	C0432207	Congenital Abnormality	Kniest-Stickler dysplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432209	Congenital Abnormality	Dyssegmental dysplasia, Rolland-Desbuquois type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432213	Congenital Abnormality	Spondyloepimetaphyseal Dysplasia, Irapa Type	Malformations of organs or body parts during development in utero.	Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
C0000768	has_associated_morphology	C0432217	Congenital Abnormality	Wolcott-Rallison syndrome	Malformations of organs or body parts during development in utero.	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
C0000768	has_associated_morphology	C0432231	Congenital Abnormality	Nievergelt syndrome	Malformations of organs or body parts during development in utero.	A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnorm...
C0000768	has_associated_morphology	C0432233	Congenital Abnormality	Trichorhinophalangeal dysplasia type I	Malformations of organs or body parts during development in utero.	Cone-shaped epiphyses, sparse hypopigmented hair, bulbous nose, variable growth retardation, and occasional mental retardation.
C0000768	has_associated_morphology	C0432237	Congenital Abnormality	Dysplasias with significant membranous bone involvement	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432243	Congenital Abnormality	Spondyloepimetaphyseal Dysplasia With Joint Laxity	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432244	Congenital Abnormality	Osteodysplastic primordial dwarfism	Malformations of organs or body parts during development in utero.	210720
C0000768	has_associated_morphology	C0432246	Congenital Abnormality	Microcephalic Osteodysplastic Primordial Dwarfism, Type II	Malformations of organs or body parts during development in utero.	A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
C0000768	has_associated_morphology	C0432269	Congenital Abnormality	Lenz Majewski hyperostotic dwarfism	Malformations of organs or body parts during development in utero.	An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
C0000768	has_associated_morphology	C0432271	Congenital Abnormality	Endosteal hyperostoses	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432272	Congenital Abnormality	Van Buchem disease	Malformations of organs or body parts during development in utero.	Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thicknes...
C0000768	has_associated_morphology	C0432273	Congenital Abnormality	Worth disease	Malformations of organs or body parts during development in utero.	A rare sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
C0000768	has_associated_morphology	C0432274	Congenital Abnormality	Endosteal hyperostoses with cerebellar hypoplasia	Malformations of organs or body parts during development in utero.	Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, op...
C0000768	has_associated_morphology	C0432275	Congenital Abnormality	Craniometaphyseal dysplasia - severe type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432276	Congenital Abnormality	Craniometaphyseal dysplasia - mild type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432278	Congenital Abnormality	Oculodento-osseous dysplasia - severe type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432279	Congenital Abnormality	Oculodento-osseous dysplasia - mild type	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432365	Congenital Abnormality	Thalidomide embryopathy syndrome	Malformations of organs or body parts during development in utero.	Thalidomide embryopathy is a group of anomalies presented in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine...
C0000768	has_associated_morphology	C0432366	Congenital Abnormality	Congenital malformation caused by cytotoxic agents	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432367	Congenital Abnormality	Fetal aminopterin syndrome	Malformations of organs or body parts during development in utero.	A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
C0000768	has_associated_morphology	C0432368	Congenital Abnormality	Fetal benzodiazepine syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432369	Congenital Abnormality	Fetal captopril/enalapril syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432370	Congenital Abnormality	Fetal carbamazepine syndrome	Malformations of organs or body parts during development in utero.	Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, s...
C0000768	has_associated_morphology	C0432371	Congenital Abnormality	Fetal cocaine syndrome	Malformations of organs or body parts during development in utero.	Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine gr...
C0000768	has_associated_morphology	C0432373	Congenital Abnormality	Fetal minoxidil syndrome	Malformations of organs or body parts during development in utero.	Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually dimini...
C0000768	has_associated_morphology	C0432374	Congenital Abnormality	Fetal misoprostol syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432375	Congenital Abnormality	Fetal primidone syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0432482	Congenital Abnormality	Fragile X chromosome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0451896	Congenital Abnormality	Cleft hard palate with cleft lip, bilateral	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0451897	Congenital Abnormality	Cleft hard palate with unilateral cleft lip	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0452132	Congenital Abnormality	congenital malformation syndromes due to known exogenous causes	Malformations of organs or body parts during development in utero.	A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause.
C0000768	has_associated_morphology	C0452147	Congenital Abnormality	Penoscrotal hypospadias	Malformations of organs or body parts during development in utero.	A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0452148	Congenital Abnormality	Perineal hypospadias	Malformations of organs or body parts during development in utero.	Hypospadias with location of the urethral meatus in the perineal region. [https://orcid.org/0000-0002-0736-9199, PMID:8097257]
C0000768	has_associated_morphology	C0452168	Congenital Abnormality	Glanular hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0456805	Congenital Abnormality	Vascular loops of inner ear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0456806	Congenital Abnormality	Vascular malformation of inner ear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0456835	Congenital Abnormality	Posterior buccal occlusion of mandibular teeth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0457774	Congenital Abnormality	Dental midlines coincident and incorrect	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0457807	Congenital Abnormality	Kniest-Stickler dysplasia group	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0458888	Congenital Abnormality	Tubule of epoophoron	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0458889	Congenital Abnormality	Duct of epoophoron	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0458891	Congenital Abnormality	Tubule of paroophoron	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0472503	Congenital Abnormality	Congenital malformation of vitreous humor	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0473555	Congenital Abnormality	Generalized essential telangiectasia (disorder)	Malformations of organs or body parts during development in utero.	A rare skin disease characterized by widespread cutaneous telangiectases usually &#64257;rst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or con&#64258;uent. Recurrent bleeding from the skin and ...
C0000768	has_associated_morphology	C0474865	Congenital Abnormality	Congenital tracheo-esophageal cleft	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0477981	Congenital Abnormality	Other congenital lens malformations	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478004	Congenital Abnormality	Other congenital malformations of renal artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478014	Congenital Abnormality	Other congenital malformations of nose	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478021	Congenital Abnormality	[X]Cleft palate, unspecified, bilateral	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478022	Congenital Abnormality	Unspecified cleft palate with bilateral cleft lip	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478024	Congenital Abnormality	Other congenital malformations of tongue	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478025	Congenital Abnormality	Congenital malformations of palate, NEC in SNOMED CT	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478026	Congenital Abnormality	Other congenital malformations of mouth	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478027	Congenital Abnormality	Other congenital malformations of pharynx	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478038	Congenital Abnormality	Other congenital malformations of pancreas and pancreatic duct	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478043	Congenital Abnormality	Other congenital malformations of fallopian tube and broad ligament	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478045	Congenital Abnormality	Other congenital malformations of uterus and cervix	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478046	Congenital Abnormality	Other congenital malformations of vagina	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478047	Congenital Abnormality	Other congenital malformations of vulva	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478048	Congenital Abnormality	Other specified congenital malformations of female genitalia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478049	Congenital Abnormality	[X]Other specified hypospadias	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478050	Congenital Abnormality	Other congenital malformations of testis and scrotum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478051	Congenital Abnormality	Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478052	Congenital Abnormality	Other congenital malformations of penis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478053	Congenital Abnormality	Other specified congenital malformations of male genital organs	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478092	Congenital Abnormality	Other congenital malformation syndromes due to known exogenous causes	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478093	Congenital Abnormality	Other congenital malformation syndromes with other skeletal changes	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478094	Congenital Abnormality	Other specified congenital malformation syndromes, NEC in SNOMED CT	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0478095	Congenital Abnormality	Other specified congenital malformations	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0495524	Congenital Abnormality	Peripheral arteriovenous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0520557	Congenital Abnormality	Arteriovenous malformation of liver	Malformations of organs or body parts during development in utero.	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.
C0000768	has_associated_morphology	C0520578	Congenital Abnormality	Retractile testis	Malformations of organs or body parts during development in utero.	A normal variant in which the testicle may move freely between the scrotum and the groin.
C0000768	has_associated_morphology	C0521545	Congenital Abnormality	Maternal PKU fetal effect	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521547	Congenital Abnormality	Congenital perforation of nasal septum	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521549	Congenital Abnormality	Congenital arteriovenous malformation of gastrointestinal tract	Malformations of organs or body parts during development in utero.	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the gastrointestinal tract.
C0000768	has_associated_morphology	C0521551	Congenital Abnormality	True generalized microdontia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521552	Congenital Abnormality	Congenital arteriovenous fistula of kidney	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521558	Congenital Abnormality	Posterior lentiglobus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521559	Congenital Abnormality	Congenital pigmentation of lens	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521560	Congenital Abnormality	Congenital anterior capsular pigmentation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0521570	Congenital Abnormality	Congenital arteriovenous malformation of retina	Malformations of organs or body parts during development in utero.	A vascular malformation of the retina that consists of arteriovenous communications and shunts. It occurs as an isolated lesion or as a component of the Wyburn-Mason syndrome.
C0000768	has_associated_morphology	C0521572	Congenital Abnormality	Macropalpebral fissure	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0524582	Congenital Abnormality	Mulibrey Nanism	Malformations of organs or body parts during development in utero.	Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
C0000768	has_associated_morphology	C0546965	Congenital Abnormality	Parachute malformation of mitral valve	Malformations of organs or body parts during development in utero.	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. [HPO_CONTRIBUTOR:DDD_dbrown]

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.