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 | C0025467 | Congenital Abnormality | Mesenteric Cyst | Malformations of organs or body parts during development in utero. | A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions. |
C0000768 | has_associated_morphology | C0025990 | Congenital Abnormality | Micrognathism | Malformations of organs or body parts during development in utero. | Abnormally small jaw. |
C0000768 | has_associated_morphology | C0026266 | Congenital Abnormality | Mitral Valve Insufficiency | Malformations of organs or body parts during development in utero. | Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation. |
C0000768 | has_associated_morphology | C0027773 | Congenital Abnormality | Nesidioblastosis | Malformations of organs or body parts during development in utero. | An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve t... |
C0000768 | has_associated_morphology | C0027794 | Congenital Abnormality | Neural Tube Defects | Malformations of organs or body parts during development in utero. | Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of... |
C0000768 | has_associated_morphology | C0027806 | Congenital Abnormality | Neurenteric Cyst | Malformations of organs or body parts during development in utero. | A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Pa... |
C0000768 | has_associated_morphology | C0027831 | Congenital Abnormality | Neurofibromatosis 1 | Malformations of organs or body parts during development in utero. | An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of ... |
C0000768 | has_associated_morphology | C0027832 | Congenital Abnormality | Neurofibromatosis 2 | Malformations of organs or body parts during development in utero. | An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutatio... |
C0000768 | has_associated_morphology | C0027961 | Congenital Abnormality | Nevus of Ota | Malformations of organs or body parts during development in utero. | A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS. |
C0000768 | has_associated_morphology | C0029411 | Congenital Abnormality | Osteoarthropathy, Primary Hypertrophic | Malformations of organs or body parts during development in utero. | A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the m... |
C0000768 | has_associated_morphology | C0029438 | Congenital Abnormality | Massive Osteolyses | Malformations of organs or body parts during development in utero. | Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized p... |
C0000768 | has_associated_morphology | C0029454 | Congenital Abnormality | Osteopetrosis | Malformations of organs or body parts during development in utero. | Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). |
C0000768 | has_associated_morphology | C0029520 | Congenital Abnormality | Other anomalies of great veins | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0029549 | Congenital Abnormality | Other conditions due to autosomal anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0029557 | Congenital Abnormality | Other congenital deformity of hip (joint) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0029729 | Congenital Abnormality | Other retinal changes, congenital | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0030044 | Congenital Abnormality | Acrocephaly | Malformations of organs or body parts during development in utero. | Premature closing of the lambdoid and coronal sutures. |
C0000768 | has_associated_morphology | C0031087 | Congenital Abnormality | Periodontal Cyst | Malformations of organs or body parts during development in utero. | An epithelium-lined sac containing fluid; usually found at the apex of a pulp-involved tooth. The lateral type occurs less frequently along the side of the root. |
C0000768 | has_associated_morphology | C0031190 | Congenital Abnormality | Persistent Fetal Circulation Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterio... |
C0000768 | has_associated_morphology | C0031192 | Congenital Abnormality | Persistent Ostium Primum | Malformations of organs or body parts during development in utero. | A congenital defect in the atrial septum at the level of the atrioventricular valves, resulting in abnormalities in the mitral and/or tricuspid valve; this defect is most commonly seen in those with Trisomy 21. |
C0000768 | has_associated_morphology | C0031269 | Congenital Abnormality | Peutz-Jeghers Syndrome | Malformations of organs or body parts during development in utero. | A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. |
C0000768 | has_associated_morphology | C0032209 | Congenital Abnormality | Platybasia | Malformations of organs or body parts during development in utero. | A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0032578 | Congenital Abnormality | Polyploidy | Malformations of organs or body parts during development in utero. | The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. |
C0000768 | has_associated_morphology | C0032580 | Congenital Abnormality | Adenomatous Polyposis Coli | Malformations of organs or body parts during development in utero. | A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. |
C0000768 | has_associated_morphology | C0033324 | Congenital Abnormality | Prognathism | Malformations of organs or body parts during development in utero. | A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0034084 | Congenital Abnormality | Infundibular pulmonic stenosis | Malformations of organs or body parts during development in utero. | Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue... |
C0000768 | has_associated_morphology | C0034960 | Congenital Abnormality | Refsum Disease | Malformations of organs or body parts during development in utero. | An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in t... |
C0000768 | has_associated_morphology | C0035313 | Congenital Abnormality | Retinal Dysplasia | Malformations of organs or body parts during development in utero. | Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary. |
C0000768 | has_associated_morphology | C0035353 | Congenital Abnormality | Congenital retrognathism | Malformations of organs or body parts during development in utero. | The condition or state of a person suffering from retrognathia. |
C0000768 | has_associated_morphology | C0035615 | Congenital Abnormality | Right aortic arch (disorder) | Malformations of organs or body parts during development in utero. | An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. |
C0000768 | has_associated_morphology | C0035619 | Congenital Abnormality | Ventricular Outflow Obstruction, Right | Malformations of organs or body parts during development in utero. | Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart. |
C0000768 | has_associated_morphology | C0036069 | Congenital Abnormality | Saldino-Noonan Syndrome | Malformations of organs or body parts during development in utero. | An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed meta... |
C0000768 | has_associated_morphology | C0036400 | Congenital Abnormality | Scimitar Syndrome | Malformations of organs or body parts during development in utero. | An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary arter... |
C0000768 | has_associated_morphology | C0036868 | Congenital Abnormality | Sex Chromosome Aberrations | Malformations of organs or body parts during development in utero. | Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. |
C0000768 | has_associated_morphology | C0037221 | Congenital Abnormality | Situs Inversus | Malformations of organs or body parts during development in utero. | A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inve... |
C0000768 | has_associated_morphology | C0037268 | Congenital Abnormality | Congenital anomaly of skin | Malformations of organs or body parts during development in utero. | Congenital structural abnormalities of the skin. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0037917 | Congenital Abnormality | Spina Bifida Cystica | Malformations of organs or body parts during development in utero. | A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbo... |
C0000768 | has_associated_morphology | C0038017 | Congenital Abnormality | Congenital spondylolisthesis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0039145 | Congenital Abnormality | Syringomyelia and syringobulbia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0040124 | Congenital Abnormality | Thyroglossal Cyst | Malformations of organs or body parts during development in utero. | A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed) |
C0000768 | has_associated_morphology | C0040761 | Congenital Abnormality | Transposition of Great Vessels | Malformations of organs or body parts during development in utero. | A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circul... |
C0000768 | has_associated_morphology | C0040961 | Congenital Abnormality | Tricuspid Valve Insufficiency | Malformations of organs or body parts during development in utero. | Backflow of blood from the RIGHT VENTRICLE into the RIGHT ATRIUM due to imperfect closure of the TRICUSPID VALVE. |
C0000768 | has_associated_morphology | C0040962 | Congenital Abnormality | Tricuspid Valve Prolapse | Malformations of organs or body parts during development in utero. | Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICL... |
C0000768 | has_associated_morphology | C0041022 | Congenital Abnormality | Trilogy of Fallot | Malformations of organs or body parts during development in utero. | A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY. |
C0000768 | has_associated_morphology | C0041207 | Congenital Abnormality | Truncus Arteriosus, Persistent | Malformations of organs or body parts during development in utero. | A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular... |
C0000768 | has_associated_morphology | C0041341 | Congenital Abnormality | Tuberous Sclerosis | Malformations of organs or body parts during development in utero. | Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation th... |
C0000768 | has_associated_morphology | C0041408 | Congenital Abnormality | Turner Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level ... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0043346 | Congenital Abnormality | Xeroderma Pigmentosum | Malformations of organs or body parts during development in utero. | A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. |
C0000768 | has_associated_morphology | C0078917 | Congenital Abnormality | Albinism, Ocular | Malformations of organs or body parts during development in utero. | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual a... |
C0000768 | has_associated_morphology | C0079037 | Congenital Abnormality | Branchial Cleft Anomalies | Malformations of organs or body parts during development in utero. | A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. |
C0000768 | has_associated_morphology | C0079136 | Congenital Abnormality | Cockayne-Touraine Disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0079153 | Congenital Abnormality | Hyperkeratosis, Epidermolytic | Malformations of organs or body parts during development in utero. | A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes t... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0079157 | Congenital Abnormality | reduction deformities of brain | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0079293 | Congenital Abnormality | Epidermolysis Bullosa Acquisita | Malformations of organs or body parts during development in utero. | Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction. |
C0000768 | has_associated_morphology | C0079294 | Congenital Abnormality | Epidermolysis Bullosa Dystrophica | Malformations of organs or body parts during development in utero. | Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major... |
C0000768 | has_associated_morphology | C0079295 | Congenital Abnormality | Epidermolysis Bullosa Herpetiformis Dowling-Meara | Malformations of organs or body parts during development in utero. | Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. |
C0000768 | has_associated_morphology | C0079298 | Congenital Abnormality | Epidermolysis Bullosa Simplex | Malformations of organs or body parts during development in utero. | A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. |
C0000768 | has_associated_morphology | C0079299 | Congenital Abnormality | Epidermolysis Bullosa Simplex Kobner | Malformations of organs or body parts during development in utero. | Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. |
C0000768 | has_associated_morphology | C0079301 | Congenital Abnormality | Junctional Epidermolysis Bullosa | Malformations of organs or body parts during development in utero. | Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. |
C0000768 | has_associated_morphology | C0079352 | Congenital Abnormality | Congenital torticollis | Malformations of organs or body parts during development in utero. | A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0079474 | Congenital Abnormality | Hallopeau-Siemens Disease | Malformations of organs or body parts during development in utero. | An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain. |
C0000768 | has_associated_morphology | C0079583 | Congenital Abnormality | Ichthyosiform Erythroderma, Congenital | Malformations of organs or body parts during development in utero. | Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATO... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | 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 | has_associated_morphology | C0079683 | Congenital Abnormality | Herlitz Disease | Malformations of organs or body parts during development in utero. | A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. |
C0000768 | has_associated_morphology | C0080174 | Congenital Abnormality | Spina Bifida Occulta | Malformations of organs or body parts during development in utero. | A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch ... |
C0000768 | has_associated_morphology | C0080178 | Congenital Abnormality | Spina Bifida | Malformations of organs or body parts during development in utero. | Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete f... |
C0000768 | has_associated_morphology | C0080218 | Congenital Abnormality | Tethered Cord Syndrome | Malformations of organs or body parts during development in utero. | During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the... |
C0000768 | has_associated_morphology | C0080333 | Congenital Abnormality | Weber-Cockayne Syndrome | Malformations of organs or body parts during development in utero. | Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0085413 | Congenital Abnormality | Polycystic Kidney, Autosomal Dominant | Malformations of organs or body parts during development in utero. | Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function. |
C0000768 | has_associated_morphology | C0085548 | Congenital Abnormality | Autosomal Recessive Polycystic Kidney Disease | Malformations of organs or body parts during development in utero. | A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. |
C0000768 | has_associated_morphology | C0085758 | Congenital Abnormality | Aganglionosis, Colonic | Malformations of organs or body parts during development in utero. | A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0086664 | Congenital Abnormality | Myelocele | Malformations of organs or body parts during development in utero. | A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. |
C0000768 | has_associated_morphology | C0149530 | Congenital Abnormality | Congenital heart block | Malformations of organs or body parts during development in utero. | Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune ... |
C0000768 | has_associated_morphology | C0149630 | Congenital Abnormality | Bicuspid aortic valve | Malformations of organs or body parts during development in utero. | Congenital heart valve defects where the AORTIC VALVE has two instead of normal three cusps. It is often associated with AORTIC REGURGITATION and AORTIC INSUFFICIENCY. |
C0000768 | has_associated_morphology | C0151490 | Congenital Abnormality | Congenital anomaly of central nervous system | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | 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 | has_associated_morphology | C0152095 | Congenital Abnormality | Patau syndrome | Malformations of organs or body parts during development in utero. | The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most fre... |
C0000768 | has_associated_morphology | C0152096 | Congenital Abnormality | Complete trisomy 18 syndrome | Malformations of organs or body parts during development in utero. | a kind of genetic disease |
C0000768 | has_associated_morphology | C0152225 | Congenital Abnormality | Latent nystagmus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152233 | Congenital Abnormality | Congenital ankyloblepharon | Malformations of organs or body parts during development in utero. | A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. |
C0000768 | has_associated_morphology | C0152235 | Congenital Abnormality | Congenital genu recurvatum | Malformations of organs or body parts during development in utero. | A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an ... |
C0000768 | has_associated_morphology | C0152239 | Congenital Abnormality | Congenital bronchiectasis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152417 | Congenital Abnormality | Congenital stenosis of aortic valve | Malformations of organs or body parts during development in utero. | Aortic valve stenosis that is present at birth. |
C0000768 | has_associated_morphology | C0152419 | Congenital Abnormality | Interrupted aortic arch | Malformations of organs or body parts during development in utero. | A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengt... |
C0000768 | has_associated_morphology | C0152424 | Congenital Abnormality | Common ventricle | Malformations of organs or body parts during development in utero. | Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two. |
C0000768 | has_associated_morphology | C0152426 | Congenital Abnormality | Craniorachischisis | Malformations of organs or body parts during development in utero. | Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. |
C0000768 | has_associated_morphology | C0152430 | Congenital Abnormality | Congenital coxa valga | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152431 | Congenital Abnormality | Congenital coxa vara | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152432 | Congenital Abnormality | Congenital genu varum | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152444 | Congenital Abnormality | Hydromyelia | Malformations of organs or body parts during development in utero. | Abnormal widening of the central spinal canal. |
C0000768 | has_associated_morphology | C0153133 | Congenital Abnormality | Congenital syphilitic encephalitis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0155219 | Congenital Abnormality | Vascular anomaly of eyelid | Malformations of organs or body parts during development in utero. | Any non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels of the eyelid. |
C0000768 | has_associated_morphology | C0155298 | Congenital Abnormality | Crater-like holes of optic disc | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0155299 | Congenital Abnormality | Coloboma of optic disc | Malformations of organs or body parts during development in utero. | Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isol... |
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