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 ⌀ |
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C0000768 | has_associated_morphology | C0002902 | Congenital Abnormality | Anencephaly | Malformations of organs or body parts during development in utero. | A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associate... |
C0000768 | has_associated_morphology | C0002992 | Congenital Abnormality | Angiomatosis | Malformations of organs or body parts during development in utero. | A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic. |
C0000768 | has_associated_morphology | C0003076 | Congenital Abnormality | Aniridia | Malformations of organs or body parts during development in utero. | A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. |
C0000768 | has_associated_morphology | C0003119 | Congenital Abnormality | Anophthalmos | Malformations of organs or body parts during development in utero. | Congenital absence of the eye or eyes. |
C0000768 | has_associated_morphology | C0003466 | Congenital Abnormality | Anus, Imperforate | Malformations of organs or body parts during development in utero. | A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. |
C0000768 | has_associated_morphology | C0003492 | Congenital Abnormality | Aortic coarctation | Malformations of organs or body parts during development in utero. | A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. |
C0000768 | has_associated_morphology | C0003499 | Congenital Abnormality | Supravalvular aortic stenosis | Malformations of organs or body parts during development in utero. | A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0004779 | Congenital Abnormality | Basal Cell Nevus Syndrome | Malformations of organs or body parts during development in utero. | Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant. |
C0000768 | has_associated_morphology | C0005754 | Congenital Abnormality | Congenital blindness | Malformations of organs or body parts during development in utero. | Blindness with onset at birth. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0006131 | Congenital Abnormality | Branchial Cleft Cyst | Malformations of organs or body parts during development in utero. | A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0006739 | Congenital Abnormality | Calculus of bile duct without mention of cholecystitis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0007294 | Congenital Abnormality | Genetic Carriers | Malformations of organs or body parts during development in utero. | <p>The patient is considered as carrier based on the testing results. A carrier is an individual who carries an altered form of a gene which can lead to having a child or offspring in future generations with a genetic disorder.</p> |
C0000768 | has_associated_morphology | C0008340 | Congenital Abnormality | Choledochal Cyst | Malformations of organs or body parts during development in utero. | A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common. |
C0000768 | has_associated_morphology | C0008449 | Congenital Abnormality | Congenital anomaly of cartilage | Malformations of organs or body parts during development in utero. | Any dysfunction in the growth of cartilage. |
C0000768 | has_associated_morphology | C0008626 | Congenital Abnormality | Congenital chromosomal disease | Malformations of organs or body parts during development in utero. | Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
C0000768 | has_associated_morphology | C0008628 | Congenital Abnormality | Chromosome Deletion | Malformations of organs or body parts during development in utero. | Actual loss of portion of a chromosome. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0009363 | Congenital Abnormality | Congenital ocular coloboma | Malformations of organs or body parts during development in utero. | Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. |
C0000768 | has_associated_morphology | C0009438 | Congenital Abnormality | Common Bile Duct Calculi | Malformations of organs or body parts during development in utero. | Gallstones that are present in the COMMON BILE DUCT, but are usually formed in the GALLBLADDER. |
C0000768 | has_associated_morphology | C0009680 | Congenital Abnormality | Abdominal wall anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0009693 | Congenital Abnormality | Congenital coronary artery sclerosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0009694 | Congenital Abnormality | Congenital cerebral meningocele | Malformations of organs or body parts during development in utero. | A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leakin... |
C0000768 | has_associated_morphology | C0009695 | Congenital Abnormality | Congenital cranial osteoporosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0009725 | Congenital Abnormality | Abnormal communication between pericardial sac and pleura | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0009730 | Congenital Abnormality | Spinal meningocele | Malformations of organs or body parts during development in utero. | A congenital abnormality in which the meninges protrude through a defect in the spinal column. |
C0000768 | has_associated_morphology | C0009995 | Congenital Abnormality | Cor Triatriatum | Malformations of organs or body parts during development in utero. | A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous... |
C0000768 | has_associated_morphology | C0010273 | Congenital Abnormality | Craniofacial Dysostosis | Malformations of organs or body parts during development in utero. | Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. |
C0000768 | has_associated_morphology | C0010278 | Congenital Abnormality | Craniosynostosis | Malformations of organs or body parts during development in utero. | Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. |
C0000768 | has_associated_morphology | C0010314 | Congenital Abnormality | Cri-du-Chat Syndrome | Malformations of organs or body parts during development in utero. | An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). |
C0000768 | has_associated_morphology | C0010334 | Congenital Abnormality | Crisscross Heart | Malformations of organs or body parts during development in utero. | A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VE... |
C0000768 | has_associated_morphology | C0010964 | Congenital Abnormality | Dandy-Walker Syndrome | Malformations of organs or body parts during development in utero. | A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging... |
C0000768 | has_associated_morphology | C0011428 | Congenital Abnormality | Dentigerous Cyst | Malformations of organs or body parts during development in utero. | Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. |
C0000768 | has_associated_morphology | C0011818 | Congenital Abnormality | Dextraposition of aorta | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0011999 | Congenital Abnormality | Diastematomyelia | Malformations of organs or body parts during development in utero. | A rare malformation characterized by localized longitudinal division of the spinal cord into two "hemicords". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lip... |
C0000768 | has_associated_morphology | C0012236 | Congenital Abnormality | DiGeorge Syndrome | Malformations of organs or body parts during development in utero. | Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies. |
C0000768 | has_associated_morphology | C0012241 | Congenital Abnormality | Congenital anomaly of gastrointestinal tract | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0013069 | Congenital Abnormality | Double Outlet Right Ventricle | Malformations of organs or body parts during development in utero. | Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as... |
C0000768 | has_associated_morphology | C0013080 | Congenital Abnormality | Down Syndrome | Malformations of organs or body parts during development in utero. | A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger... |
C0000768 | has_associated_morphology | C0013261 | Congenital Abnormality | Duane Retraction Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE. |
C0000768 | has_associated_morphology | C0013264 | Congenital Abnormality | Muscular Dystrophy, Duchenne | Malformations of organs or body parts during development in utero. | An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudoh... |
C0000768 | has_associated_morphology | C0013274 | Congenital Abnormality | Patent ductus arteriosus | Malformations of organs or body parts during development in utero. | A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth. |
C0000768 | has_associated_morphology | C0013403 | Congenital Abnormality | Dysplastic Nevus Syndrome | Malformations of organs or body parts during development in utero. | Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for m... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0013575 | Congenital Abnormality | Ectodermal Dysplasia | Malformations of organs or body parts during development in utero. | A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and h... |
C0000768 | has_associated_morphology | C0013589 | Congenital Abnormality | Ectromelia | Malformations of organs or body parts during development in utero. | Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. |
C0000768 | has_associated_morphology | C0013743 | Congenital Abnormality | Eisenmenger Complex | Malformations of organs or body parts during development in utero. | A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of th... |
C0000768 | has_associated_morphology | C0014116 | Congenital Abnormality | Endocardial Cushion Defects | Malformations of organs or body parts during development in utero. | A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atriovent... |
C0000768 | has_associated_morphology | C0014522 | Congenital Abnormality | Epidermodysplasia Verruciformis | Malformations of organs or body parts during development in utero. | An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. |
C0000768 | has_associated_morphology | C0014527 | Congenital Abnormality | Epidermolysis Bullosa | Malformations of organs or body parts during development in utero. | Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0014850 | Congenital Abnormality | Esophageal Atresia | Malformations of organs or body parts during development in utero. | Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0016395 | Congenital Abnormality | Focal Dermal Hypoplasia | Malformations of organs or body parts during development in utero. | A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
C0000768 | has_associated_morphology | C0016428 | Congenital Abnormality | Eruption cyst of jaw | Malformations of organs or body parts during development in utero. | A variant of dentigerous cyst found in the soft tissues overlying an erupting tooth. (WHO 2017) |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0016522 | Congenital Abnormality | Foramen Ovale, Patent | Malformations of organs or body parts during development in utero. | A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance. |
C0000768 | has_associated_morphology | C0016842 | Congenital Abnormality | Congenital pectus excavatum | Malformations of organs or body parts during development in utero. | A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. |
C0000768 | has_associated_morphology | C0017097 | Congenital Abnormality | Gardner Syndrome | Malformations of organs or body parts during development in utero. | A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as... |
C0000768 | has_associated_morphology | C0017920 | Congenital Abnormality | Glycogen Storage Disease Type I | Malformations of organs or body parts during development in utero. | An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appea... |
C0000768 | has_associated_morphology | C0017925 | Congenital Abnormality | Glycogen Storage Disease Type VI | Malformations of organs or body parts during development in utero. | A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity. |
C0000768 | has_associated_morphology | C0017927 | Congenital Abnormality | Glycogen Storage Disease Type VIII | Malformations of organs or body parts during development in utero. | An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. |
C0000768 | has_associated_morphology | C0018055 | Congenital Abnormality | Gonadal Dysgenesis, Mixed | Malformations of organs or body parts during development in utero. | A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46... |
C0000768 | has_associated_morphology | C0018508 | Congenital Abnormality | Hair nevus | Malformations of organs or body parts during development in utero. | A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. |
C0000768 | has_associated_morphology | C0018553 | Congenital Abnormality | Hamartoma Syndrome, Multiple | Malformations of organs or body parts during development in utero. | A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0018816 | Congenital Abnormality | Congenital septal defect of heart | Malformations of organs or body parts during development in utero. | Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. |
C0000768 | has_associated_morphology | C0018921 | Congenital Abnormality | Acquired hemangiomatosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0019311 | Congenital Abnormality | Paraumbilical hernia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0019322 | Congenital Abnormality | Umbilical hernia | Malformations of organs or body parts during development in utero. | A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abd... |
C0000768 | has_associated_morphology | C0019562 | Congenital Abnormality | Von Hippel-Lindau Syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma ... |
C0000768 | has_associated_morphology | C0019569 | Congenital Abnormality | Hirschsprung Disease | Malformations of organs or body parts during development in utero. | Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. |
C0000768 | has_associated_morphology | C0020225 | Congenital Abnormality | Hydranencephaly | Malformations of organs or body parts during development in utero. | A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero i... |
C0000768 | has_associated_morphology | C0020256 | Congenital Abnormality | Congenital Hydrocephalus | Malformations of organs or body parts during development in utero. | A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0020647 | Congenital Abnormality | Hypospadias or epispadias NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0021171 | Congenital Abnormality | Bloch Sulzberger syndrome | Malformations of organs or body parts during development in utero. | A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages. |
C0000768 | has_associated_morphology | C0022283 | Congenital Abnormality | Incontinentia Pigmenti Achromians | Malformations of organs or body parts during development in utero. | Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulde... |
C0000768 | has_associated_morphology | C0022350 | Congenital Abnormality | Jaundice, Chronic Idiopathic | Malformations of organs or body parts during development in utero. | A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional... |
C0000768 | has_associated_morphology | C0022387 | Congenital Abnormality | Jervell-Lange Nielsen Syndrome | Malformations of organs or body parts during development in utero. | A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
C0000768 | has_associated_morphology | C0022580 | Congenital Abnormality | Punctate keratosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | 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 | has_associated_morphology | C0022596 | Congenital Abnormality | Palmoplantar Keratosis | Malformations of organs or body parts during development in utero. | Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0022681 | Congenital Abnormality | Medullary sponge kidney | Malformations of organs or body parts during development in utero. | A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should ... |
C0000768 | has_associated_morphology | C0022735 | Congenital Abnormality | Klinefelter Syndrome | Malformations of organs or body parts during development in utero. | A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim,... |
C0000768 | has_associated_morphology | C0022738 | Congenital Abnormality | Klippel-Feil Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. |
C0000768 | has_associated_morphology | C0023213 | Congenital Abnormality | Ventricular Outflow Obstruction, Left | Malformations of organs or body parts during development in utero. | Occlusion of the outflow tract in the LEFT VENTRICLE of the heart. |
C0000768 | has_associated_morphology | C0023529 | Congenital Abnormality | Leukomalacia, Periventricular | Malformations of organs or body parts during development in utero. | Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PA... |
C0000768 | has_associated_morphology | C0023569 | Congenital Abnormality | Levocardia | Malformations of organs or body parts during development in utero. | Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with... |
C0000768 | has_associated_morphology | C0024164 | Congenital Abnormality | Lutembacher Syndrome | Malformations of organs or body parts during development in utero. | A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS. |
C0000768 | has_associated_morphology | C0024454 | Congenital Abnormality | Maffucci Syndrome | Malformations of organs or body parts during development in utero. | A rare non-inherited disorder primarily affecting the skin and skeletal system. It is classified as a mesodermal dysplasia. Clinical signs appear within the first decade and are characterized by multiple soft tissue hemiangiomas and enchondromas leading to skeletal deformities. Clinical course is progressive with varia... |
C0000768 | has_associated_morphology | C0024507 | Congenital Abnormality | Majewski Syndrome | Malformations of organs or body parts during development in utero. | A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such a... |
C0000768 | has_associated_morphology | C0025210 | Congenital Abnormality | Ocular melanosis | Malformations of organs or body parts during development in utero. | A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. [] |
C0000768 | has_associated_morphology | C0025221 | Congenital Abnormality | Meleda Disease | Malformations of organs or body parts during development in utero. | A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. |
C0000768 | has_associated_morphology | C0025269 | Congenital Abnormality | Multiple Endocrine Neoplasia Type 2b | Malformations of organs or body parts during development in utero. | Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distingu... |
C0000768 | has_associated_morphology | C0025312 | Congenital Abnormality | Meningomyelocele | Malformations of organs or body parts during development in utero. | Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with ... |
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