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	co-occurs_with	C0744008	Congenital Abnormality	FINGER DEFORMITY DIGIT ABSENT DISTAL	Malformations of organs or body parts during development in utero.	null
C0000768	co-occurs_with	C0744538	Congenital Abnormality	HAND DEFORMITY EXTRA DIGIT	Malformations of organs or body parts during development in utero.	null
C0000768	co-occurs_with	C0748319	Congenital Abnormality	RENAL INSUFFICIENCY UNILATERAL	Malformations of organs or body parts during development in utero.	null
C0000768	clinically_associated_with	C0748343	Congenital Abnormality	REPRODUCTIVE HISTORY POOR	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0020305	Congenital Abnormality	Hydrops Fetalis	Malformations of organs or body parts during development in utero.	Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
C0000768	mapped_from	C0020305	Congenital Abnormality	Hydrops Fetalis	Malformations of organs or body parts during development in utero.	Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
C0000768	mapped_to	C0023794	Congenital Abnormality	Lipoidosis	Malformations of organs or body parts during development in utero.	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
C0000768	mapped_from	C0023794	Congenital Abnormality	Lipoidosis	Malformations of organs or body parts during development in utero.	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
C0000768	mapped_to	C0031925	Congenital Abnormality	Pilonidal Cyst	Malformations of organs or body parts during development in utero.	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.
C0000768	mapped_from	C0031925	Congenital Abnormality	Pilonidal Cyst	Malformations of organs or body parts during development in utero.	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.
C0000768	mapped_to	C0037223	Congenital Abnormality	Situs inversus thoracic organ	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0040588	Congenital Abnormality	Tracheoesophageal Fistula	Malformations of organs or body parts during development in utero.	Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.
C0000768	mapped_from	C0040588	Congenital Abnormality	Tracheoesophageal Fistula	Malformations of organs or body parts during development in utero.	Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.
C0000768	mapped_to	C0221360	Congenital Abnormality	Congenital absence of diaphragm	Malformations of organs or body parts during development in utero.	Congenital lack, i.e., aplasia of the diaphragm. [https://orcid.org/0000-0002-0736-9199]
C0000768	mapped_to	C0232910	Congenital Abnormality	Teratogenesis	Malformations of organs or body parts during development in utero.	The formation of CONGENITAL ABNORMALITIES.
C0000768	mapped_to	C0235832	Congenital Abnormality	Congenital hernia	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_from	C0235832	Congenital Abnormality	Congenital hernia	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0235861	Congenital Abnormality	Congenital flaccid paralysis	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0265706	Congenital Abnormality	Gastroschisis	Malformations of organs or body parts during development in utero.	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
C0000768	mapped_to	C0266008	Congenital Abnormality	Congenital anomaly of breast	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_from	C0266008	Congenital Abnormality	Congenital anomaly of breast	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	C0266362	Congenital Abnormality	Ambiguous Genitalia	Malformations of organs or body parts during development in utero.	A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.
C0000768	mapped_to	C0266589	Congenital Abnormality	Congenital ear anomaly NOS (disorder)	Malformations of organs or body parts during development in utero.	An abnormality of the ear. [https://orcid.org/0000-0002-0736-9199]
C0000768	mapped_to	C0302280	Congenital Abnormality	Adrenogenital Syndrome	Malformations of organs or body parts during development in utero.	Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females...
C0000768	mapped_from	C0302280	Congenital Abnormality	Adrenogenital Syndrome	Malformations of organs or body parts during development in utero.	Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females...
C0000768	mapped_from	C0332890	Congenital Abnormality	Congenital hemihypertrophy	Malformations of organs or body parts during development in utero.	Overgrowth of only one side of the body. [https://orcid.org/0000-0002-0736-9199]
C0000768	mapped_to	C0332907	Congenital Abnormality	Congenital absence	Malformations of organs or body parts during development in utero.	null
C0000768	mapped_to	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	mapped_to	C1744681	Congenital Abnormality	Congenital (qualifier value)	Malformations of organs or body parts during development in utero.	Denoting something that is present at birth.
C0000768	see_from	C0019247	Congenital Abnormality	Hereditary Diseases	Malformations of organs or body parts during development in utero.	Diseases caused by genetic mutations that are inherited from a parent's genome.
C0000768	has_member	C1869073	Congenital Abnormality	Congenital, familial and genetic disorders (SMQ)	Malformations of organs or body parts during development in utero.	This SMQ is a sub-search of SMQ Pregnancy and neonatal topics. For detailed description, please refer to the one in SMQ Pregnancy and neonatal topics.
C0000768	associated_with	C0003516	Congenital Abnormality	Aortopulmonary Septal Defect	Malformations of organs or body parts during development in utero.	A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE).
C0000768	associated_with	C0009081	Congenital Abnormality	Congenital clubfoot	Malformations of organs or body parts during development in utero.	A deformed foot in which the foot is plantarflexed, inverted, and adducted.
C0000768	associated_with	C0009680	Congenital Abnormality	Abdominal wall anomaly	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0009681	Congenital Abnormality	Anomalous pulmonary artery	Malformations of organs or body parts during development in utero.	An abnormality of the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]
C0000768	associated_with	C0009714	Congenital Abnormality	Hepatic Fibrosis, Congenital	Malformations of organs or body parts during development in utero.	A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulth...
C0000768	associated_with	C0012241	Congenital Abnormality	Congenital anomaly of gastrointestinal tract	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0013364	Congenital Abnormality	Dysautonomia, Familial	Malformations of organs or body parts during development in utero.	An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, lo...
C0000768	associated_with	C0013481	Congenital Abnormality	Ebstein Anomaly	Malformations of organs or body parts during development in utero.	A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
C0000768	associated_with	C0014588	Congenital Abnormality	Epispadias	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 above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often be...
C0000768	associated_with	C0015393	Congenital Abnormality	Eye Abnormalities	Malformations of organs or body parts during development in utero.	Congenital absence of or defects in structures of the eye; may also be hereditary.
C0000768	associated_with	C0016508	Congenital Abnormality	Congenital Foot Deformity	Malformations of organs or body parts during development in utero.	Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
C0000768	associated_with	C0018798	Congenital Abnormality	Congenital Heart Defects	Malformations of organs or body parts during development in utero.	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
C0000768	associated_with	C0019269	Congenital Abnormality	Hermaphroditism	Malformations of organs or body parts during development in utero.	An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia.
C0000768	associated_with	C0020534	Congenital Abnormality	Orbital separation excessive	Malformations of organs or body parts during development in utero.	Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
C0000768	associated_with	C0020757	Congenital Abnormality	Ichthyoses	Malformations of organs or body parts during development in utero.	Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
C0000768	associated_with	C0020758	Congenital Abnormality	Congenital ichthyosis	Malformations of organs or body parts during development in utero.	skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis that exist at, and usually before, birth regardless of their causation; most ichthyoses are genetically determined.
C0000768	associated_with	C0022584	Congenital Abnormality	Keratoderma, Palmoplantar, Diffuse	Malformations of organs or body parts during development in utero.	An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratode...
C0000768	associated_with	C0022595	Congenital Abnormality	Keratosis Follicularis	Malformations of organs or body parts during development in utero.	An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN F...
C0000768	associated_with	C0026505	Congenital Abnormality	Monster (disorder)	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0029455	Congenital Abnormality	Osteopoikilosis (disorder)	Malformations of organs or body parts during development in utero.	An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)
C0000768	associated_with	C0033804	Congenital Abnormality	Pseudohermaphroditism	Malformations of organs or body parts during development in utero.	An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia.
C0000768	associated_with	C0035238	Congenital Abnormality	Congenital abnormality of respiratory system	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities of the respiratory system.
C0000768	associated_with	C0037205	Congenital Abnormality	Sirenomelia	Malformations of organs or body parts during development in utero.	A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central ne...
C0000768	associated_with	C0037268	Congenital Abnormality	Congenital anomaly of skin	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities of the skin.
C0000768	associated_with	C0037277	Congenital Abnormality	Skin Diseases, Genetic	Malformations of organs or body parts during development in utero.	Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
C0000768	associated_with	C0040427	Congenital Abnormality	Tooth Abnormalities	Malformations of organs or body parts during development in utero.	Congenital absence of or defects in structures of the teeth.
C0000768	associated_with	C0042063	Congenital Abnormality	Urogenital Abnormalities	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
C0000768	associated_with	C0060329	Congenital Abnormality	fibrinogen Aarhus	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060332	Congenital Abnormality	fibrinogen Baltimore II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060340	Congenital Abnormality	fibrinogen Giessen I	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060341	Congenital Abnormality	Fibrinogen Bergamo II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060342	Congenital Abnormality	fibrinogen Kawaguchi	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060347	Congenital Abnormality	fibrinogen Milano II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060348	Congenital Abnormality	fibrinogen Nagoya	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060354	Congenital Abnormality	fibrinogen Petoskey	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060356	Congenital Abnormality	Fibrinogen Schwarzach	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060358	Congenital Abnormality	fibrinogen Seattle II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0060360	Congenital Abnormality	fibrinogen Tokyo II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0079154	Congenital Abnormality	Congenital Nonbullous Ichthyosiform Erythroderma	Malformations of organs or body parts during development in utero.	A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so th...
C0000768	associated_with	C0079584	Congenital Abnormality	Ichthyosis Vulgaris	Malformations of organs or body parts during development in utero.	Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
C0000768	associated_with	C0079588	Congenital Abnormality	Ichthyosis, X-Linked	Malformations of organs or body parts during development in utero.	Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
C0000768	associated_with	C0082576	Congenital Abnormality	fibrinogen Genova II	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0085106	Congenital Abnormality	Familial benign pemphigus	Malformations of organs or body parts during development in utero.	An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE...
C0000768	associated_with	C0149955	Congenital Abnormality	Annular pancreas	Malformations of organs or body parts during development in utero.	A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.
C0000768	associated_with	C0151491	Congenital Abnormality	Congenital musculoskeletal anomalies	Malformations of organs or body parts during development in utero.	Congenital structural abnormalities and deformities of the musculoskeletal system.
C0000768	associated_with	C0152021	Congenital Abnormality	Congenital heart disease	Malformations of organs or body parts during development in utero.	imperfections or malformations of the heart, existing at, and usually before, birth regardless of their causation.
C0000768	associated_with	C0152234	Congenital Abnormality	Iniencephaly	Malformations of organs or body parts during development in utero.	Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
C0000768	associated_with	C0156724	Congenital Abnormality	Fetus papyraceous	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158587	Congenital Abnormality	Congenital anomaly of ossicles of ear	Malformations of organs or body parts during development in utero.	Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients fre...
C0000768	associated_with	C0158623	Congenital Abnormality	Congenital anomaly of coronary artery	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158629	Congenital Abnormality	Congenital anomaly of aortic arch	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158638	Congenital Abnormality	Congenital anomaly of cerebrovascular system	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158644	Congenital Abnormality	Congenital anomaly of lung	Malformations of organs or body parts during development in utero.	A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia.
C0000768	associated_with	C0158662	Congenital Abnormality	Congenital anomaly of tongue	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158684	Congenital Abnormality	Anomalies of pancreas	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158687	Congenital Abnormality	Congenital malformation of genital organs	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158688	Congenital Abnormality	Congenital anomaly of ovary	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158698	Congenital Abnormality	Congenital malformation of the urinary system	Malformations of organs or body parts during development in utero.	An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra.
C0000768	associated_with	C0158760	Congenital Abnormality	Congenital deformity of clavicle	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158767	Congenital Abnormality	Congenital deformity of knee joint	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158775	Congenital Abnormality	Congenital anomaly of spine	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158782	Congenital Abnormality	Congenital anomaly of diaphragm	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0158797	Congenital Abnormality	Congenital anomaly of adrenal gland	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0162839	Congenital Abnormality	Porokeratosis	Malformations of organs or body parts during development in utero.	A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, inclu...
C0000768	associated_with	C0163183	Congenital Abnormality	fibrinogen Lille	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0165134	Congenital Abnormality	fibrinogen Nijmegen	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0206762	Congenital Abnormality	Limb Deformities, Congenital	Malformations of organs or body parts during development in utero.	Congenital structural deformities of the upper and lower extremities collectively or unspecified.
C0000768	associated_with	C0208000	Congenital Abnormality	Fibrinogen Dusard	Malformations of organs or body parts during development in utero.	null
C0000768	associated_with	C0221199	Congenital Abnormality	Abnormal palmar creases	Malformations of organs or body parts during development in utero.	An abnormality of the creases of the skin of palm of hand. [https://orcid.org/0000-0002-0736-9199]

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