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	C0271721	Congenital Abnormality	Hyperplasia of islet alpha cells with gastrin excess	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0272170	Congenital Abnormality	Shwachman syndrome	Malformations of organs or body parts during development in utero.	An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.
C0000768	has_associated_morphology	C0272405	Congenital Abnormality	Functional asplenia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0275862	Congenital Abnormality	Congenital syphilitic hepatomegaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0275866	Congenital Abnormality	Congenital syphilitic splenomegaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0282030	Congenital Abnormality	Distal muscular dystrophy with adult onset	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0282160	Congenital Abnormality	Aplasia Cutis Congenita	Malformations of organs or body parts during development in utero.	Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.
C0000768	has_associated_morphology	C0302319	Congenital Abnormality	Porokeratosis, Linear	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0302356	Congenital Abnormality	Incomplete Anencephaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0302467	Congenital Abnormality	Congenital anomaly of aorta	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0302889	Congenital Abnormality	Ectopic testis	Malformations of organs or body parts during development in utero.	Localization of the testis in an anatomic location other than the scrotum. [PMID:31211064]
C0000768	has_associated_morphology	C0311237	Congenital Abnormality	Goniodysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0311245	Congenital Abnormality	Congenital cystic kidney disease	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0311249	Congenital Abnormality	Cryptophthalmos	Malformations of organs or body parts during development in utero.	A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.
C0000768	has_associated_morphology	C0332879	Congenital Abnormality	Congenital adhesion, NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0333681	Congenital Abnormality	Sex chromosome mosaicism	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0333693	Congenital Abnormality	Triploidy syndrome	Malformations of organs or body parts during development in utero.	Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES.
C0000768	has_associated_morphology	C0334086	Congenital Abnormality	Nevus lipomatosus cutaneous superficialis	Malformations of organs or body parts during development in utero.	A rare cutaneous hamartoma characterized by the presence of ectopic adipose tissue in the dermis. Histologically, there are aggregates of mature adipocytes usually around blood vessels, in the papillary and upper reticular dermis.
C0000768	has_associated_morphology	C0338499	Congenital Abnormality	Tilted optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338500	Congenital Abnormality	Partial hypoplasia of optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338501	Congenital Abnormality	Sectorial hypoplasia of optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338502	Congenital Abnormality	Optic Nerve Hypoplasia	Malformations of organs or body parts during development in utero.	A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.
C0000768	has_associated_morphology	C0338504	Congenital Abnormality	Optic pit	Malformations of organs or body parts during development in utero.	A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be invo...
C0000768	has_associated_morphology	C0338505	Congenital Abnormality	Myelinated nerve fibers of optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338532	Congenital Abnormality	congenital disorder of eye and eyelid movements	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338533	Congenital Abnormality	Congenital failure of eye elevation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338534	Congenital Abnormality	Congenital nuclear ophthalmoplegia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0338540	Congenital Abnormality	Late congenital syphilitic polyneuropathy	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339125	Congenital Abnormality	Congenital lacrimal passage anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339182	Congenital Abnormality	Ankyloblepharon	Malformations of organs or body parts during development in utero.	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. [PMID:18125427]
C0000768	has_associated_morphology	C0339213	Congenital Abnormality	Congenital structural abnormality of cornea	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339281	Congenital Abnormality	Lattice corneal dystrophy, isolated form	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339284	Congenital Abnormality	Polymorphous corneal dystrophy	Malformations of organs or body parts during development in utero.	A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
C0000768	has_associated_morphology	C0339309	Congenital Abnormality	Congenital anomaly of iris	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339350	Congenital Abnormality	Congenital anomaly of lens	Malformations of organs or body parts during development in utero.	Any anatomic abnormality or physiologic dysfunction of the lens of the eye that is present at the time of birth.
C0000768	has_associated_morphology	C0339494	Congenital Abnormality	Central serous retinopathy with pit of optic disc	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339648	Congenital Abnormality	Strabismus fixus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339649	Congenital Abnormality	Vertical retraction syndrome	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0339789	Congenital Abnormality	Congenital deafness	Malformations of organs or body parts during development in utero.	complete loss of the ability to hear from both ears since birth, regardless of causation.
C0000768	has_associated_morphology	C0339983	Congenital Abnormality	Congenital cystic bronchiectasis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340115	Congenital Abnormality	Pulmonary tuberous sclerosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340215	Congenital Abnormality	Congenital tracheal fistula	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340239	Congenital Abnormality	Congenital bronchial stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340241	Congenital Abnormality	Infected bronchogenic cyst	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340261	Congenital Abnormality	Other cardiovascular system anomaly NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340496	Congenital Abnormality	Congenital complete heart block	Malformations of organs or body parts during development in utero.	A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tiss...
C0000768	has_associated_morphology	C0340568	Congenital Abnormality	Congenital stricture of cerebral artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340797	Congenital Abnormality	Vascular malformation peripheral	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340799	Congenital Abnormality	Hypoplasia of spinal vessel	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340800	Congenital Abnormality	Other peripheral vascular system anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340801	Congenital Abnormality	Other congenital anomalies of peripheral veins	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340802	Congenital Abnormality	Other congenital anomalies of peripheral arteries	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340807	Congenital Abnormality	Anomaly of renal artery NEC NOS	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340812	Congenital Abnormality	Congenital absence of artery	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340813	Congenital Abnormality	Absence of artery NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340816	Congenital Abnormality	Atresia of vein NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340817	Congenital Abnormality	Anomaly of vein NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340818	Congenital Abnormality	Venous valvular anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340819	Congenital Abnormality	Deep vein aplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340820	Congenital Abnormality	Absence of vein NEC	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340821	Congenital Abnormality	Deep vein hypoplasia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340822	Congenital Abnormality	Ectactic vein	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340823	Congenital Abnormality	True congenital varicose veins	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340825	Congenital Abnormality	Spongy venous malformation	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340826	Congenital Abnormality	Splenoportal Vascular Anomalies	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340827	Congenital Abnormality	Congenital abnormality of great veins and coronary sinus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0340848	Congenital Abnormality	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE	Malformations of organs or body parts during development in utero.	An autosomal recessive subtype of primary pulmonary hypertension which has histological characteristics of widespread fibrous intimal proliferation of septal veins and preseptal venules. There is frequent association with pulmonary capillary dilatation and proliferation and the disease can cause occult alveolar hemorrh...
C0000768	has_associated_morphology	C0340983	Congenital Abnormality	Congenital cyst of spleen	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341030	Congenital Abnormality	Microgenia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341037	Congenital Abnormality	Lateral developmental cyst of jaw	Malformations of organs or body parts during development in utero.	A developmental odontogenic cyst lined by non-keratinized epithelium, occurring on the lateral aspect or between the roots of erupted teeth. (WHO 2017)
C0000768	has_associated_morphology	C0341153	Congenital Abnormality	Tracheo-esophageal fistula without atresia of esophagus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341154	Congenital Abnormality	Esophageal atresia with tracheoesophageal fistula (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341307	Congenital Abnormality	Familial absence of villi	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341480	Congenital Abnormality	Congenital pancreatic cyst	Malformations of organs or body parts during development in utero.	A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs an...
C0000768	has_associated_morphology	C0341481	Congenital Abnormality	Polycystic disease of pancreas	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341533	Congenital Abnormality	Paraumbilical hernia with obstruction	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0341741	Congenital Abnormality	Congenital bladder neck stenosis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0342155	Congenital Abnormality	Congenital hypothyroidism with ectopic thyroid	Malformations of organs or body parts during development in utero.	Thyroid hormone deficiency present at birth that is associated with ectopic thyroid tissue located in the neck region.
C0000768	has_associated_morphology	C0342510	Congenital Abnormality	Ovarian dysgenesis	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0342684	Congenital Abnormality	Ocular albinism, type I	Malformations of organs or body parts during development in utero.	An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia.
C0000768	has_associated_morphology	C0343057	Congenital Abnormality	Keratosis pilaris decalvans	Malformations of organs or body parts during development in utero.	Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photopho...
C0000768	has_associated_morphology	C0343064	Congenital Abnormality	Keratolysis exfoliativa	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0343108	Congenital Abnormality	Flynn Aird syndrome	Malformations of organs or body parts during development in utero.	A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental ...
C0000768	has_associated_morphology	C0343110	Congenital Abnormality	Epidermolytic palmoplantar keratoderma of Vorner	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0343111	Congenital Abnormality	Naegeli syndrome	Malformations of organs or body parts during development in utero.	A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
C0000768	has_associated_morphology	C0343114	Congenital Abnormality	Wooly hair nevus	Malformations of organs or body parts during development in utero.	Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed...
C0000768	has_associated_morphology	C0343239	Congenital Abnormality	Benign congenital hypotonia	Malformations of organs or body parts during development in utero.	Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy).
C0000768	has_associated_morphology	C0343305	Congenital Abnormality	Congenital uremia	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344465	Congenital Abnormality	Acephalogaster	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344473	Congenital Abnormality	Fissured spine	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344474	Congenital Abnormality	Myelocele with hydrocephalus	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344479	Congenital Abnormality	Spinal Cord Myelodysplasia	Malformations of organs or body parts during development in utero.	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344488	Congenital Abnormality	Agenesis of cerebellum	Malformations of organs or body parts during development in utero.	A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, d...
C0000768	has_associated_morphology	C0344490	Congenital Abnormality	Sacral agenesis	Malformations of organs or body parts during development in utero.	Absence (aplasia) of the sacrum. [https://orcid.org/0000-0002-0736-9199]
C0000768	has_associated_morphology	C0344496	Congenital Abnormality	Hypoplasia of brain gyri	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344497	Congenital Abnormality	Hypoplasia of eye muscle	Malformations of organs or body parts during development in utero.	null
C0000768	has_associated_morphology	C0344499	Congenital Abnormality	Hypoplasia of eyelid	Malformations of organs or body parts during development in utero.	Developmental hypoplasia of the eyelid. [HPO_CONTRIBUTOR:GOC_MG]
C0000768	has_associated_morphology	C0344502	Congenital Abnormality	Congenital blepharophimosis	Malformations of organs or body parts during development in utero.	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi
C0000768	has_associated_morphology	C0344503	Congenital Abnormality	Congenital epiblepharon	Malformations of organs or body parts during development in utero.	A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign bod...
C0000768	has_associated_morphology	C0344504	Congenital Abnormality	Congenital distichiasis	Malformations of organs or body parts during development in utero.	null

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