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 | C0032897 | Congenital Abnormality | Prader-Willi Syndrome | Malformations of organs or body parts during development in utero. | An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATIO... |
C0000768 | has_associated_morphology | C0033770 | Congenital Abnormality | Prune Belly Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | 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 | has_associated_morphology | C0035934 | Congenital Abnormality | Rubinstein-Taybi Syndrome | Malformations of organs or body parts during development in utero. | A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The dise... |
C0000768 | has_associated_morphology | C0036391 | Congenital Abnormality | Schwartz-Jampel Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected chi... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0037231 | Congenital Abnormality | Sjogren-Larsson Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. |
C0000768 | has_associated_morphology | C0038505 | Congenital Abnormality | Sturge-Weber Syndrome | Malformations of organs or body parts during development in utero. | A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. |
C0000768 | has_associated_morphology | C0039685 | Congenital Abnormality | Tetralogy of Fallot | Malformations of organs or body parts during development in utero. | A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. |
C0000768 | has_associated_morphology | C0039743 | Congenital Abnormality | Thanatophoric Dysplasia | Malformations of organs or body parts during development in utero. | A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period. |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0040433 | Congenital Abnormality | Tooth Crowding | Malformations of organs or body parts during development in utero. | Changes in alignment of teeth in the dental arch [PMID:19125428, PMID:31468724] |
C0000768 | has_associated_morphology | C0040456 | Congenital Abnormality | Impacted tooth | Malformations of organs or body parts during development in utero. | A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures. |
C0000768 | has_associated_morphology | C0040457 | Congenital Abnormality | Tooth, Supernumerary | Malformations of organs or body parts during development in utero. | An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. |
C0000768 | has_associated_morphology | C0043119 | Congenital Abnormality | Werner Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. |
C0000768 | has_associated_morphology | C0043152 | Congenital Abnormality | White Heifer Disease | Malformations of organs or body parts during development in utero. | A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. |
C0000768 | has_associated_morphology | C0043459 | Congenital Abnormality | Zellweger Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; vi... |
C0000768 | has_associated_morphology | C0079541 | Congenital Abnormality | Holoprosencephaly | Malformations of organs or body parts during development in utero. | Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly... |
C0000768 | has_associated_morphology | C0079661 | Congenital Abnormality | Klein's Syndrome | Malformations of organs or body parts during development in utero. | A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gen... |
C0000768 | has_associated_morphology | C0085280 | Congenital Abnormality | Alagille Syndrome | Malformations of organs or body parts during development in utero. | A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagil... |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0151489 | Congenital Abnormality | Arterial malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0152240 | Congenital Abnormality | Uterus bilocularis | Malformations of organs or body parts during development in utero. | A congenital duplication of the UTERUS in which a septum is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA. |
C0000768 | has_associated_morphology | C0152415 | Congenital Abnormality | Ankyloglossia | Malformations of organs or body parts during development in utero. | A severe congenital restriction of TONGUE movement, resulting from fusion or adherence of the tongue to the floor of the mouth. In partial ankyloglossia (tongue-tie) the LINGUAL FRENUM is abnormally short, or is attached too close to the tip of the tongue. OMIM: 106280 |
C0000768 | has_associated_morphology | C0152429 | Congenital Abnormality | Accessory salivary gland | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0152436 | Congenital Abnormality | Hymen, Imperforate | Malformations of organs or body parts during development in utero. | A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [PMID:24822139] |
C0000768 | has_associated_morphology | C0155940 | Congenital Abnormality | Displaced tooth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0155963 | Congenital Abnormality | Persistent tuberculum impar | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158553 | Congenital Abnormality | Congenital anomaly of lens shape | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158635 | Congenital Abnormality | Congenital absence and hypoplasia of umbilical artery | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158638 | Congenital Abnormality | Congenital anomaly of cerebrovascular system | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158646 | Congenital Abnormality | Cleft palate with cleft lip | Malformations of organs or body parts during development in utero. | <p>Cleft lip and cleft palate are <a href="https://medlineplus.gov/birthdefects.html">birth defects</a> that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both.</p> <p>A cleft lip happens if the tissue that makes up the lip doe... |
C0000768 | has_associated_morphology | C0158647 | Congenital Abnormality | Cleft palate, unilateral, complete | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158648 | Congenital Abnormality | Cleft palate, unilateral, incomplete | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158649 | Congenital Abnormality | Complete bilateral cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158650 | Congenital Abnormality | Incomplete bilateral cleft palate | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158651 | Congenital Abnormality | Complete unilateral cleft lip | Malformations of organs or body parts during development in utero. | Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity. [PMID:21331089, PMID:26171570] |
C0000768 | has_associated_morphology | C0158652 | Congenital Abnormality | Incomplete unilateral cleft lip | Malformations of organs or body parts during development in utero. | Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity. [PMID:21331089, PMID:26171570] |
C0000768 | has_associated_morphology | C0158653 | Congenital Abnormality | Complete bilateral cleft lip | Malformations of organs or body parts during development in utero. | Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity. [PMID:19884685] |
C0000768 | has_associated_morphology | C0158654 | Congenital Abnormality | Incomplete bilateral cleft lip | Malformations of organs or body parts during development in utero. | Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side. [PMID:19884685] |
C0000768 | has_associated_morphology | C0158655 | Congenital Abnormality | Cleft palate with cleft lip, unilateral, complete | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158656 | Congenital Abnormality | Cleft palate with cleft lip, unilateral, incomplete | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158657 | Congenital Abnormality | Bilateral complete cleft palate with cleft lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158658 | Congenital Abnormality | Cleft palate with cleft lip, bilateral, incomplete | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158662 | Congenital Abnormality | Congenital anomaly of tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158663 | Congenital Abnormality | Tongue absent | Malformations of organs or body parts during development in utero. | Absence of the tongue owing to a developmental abnormality. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0158664 | Congenital Abnormality | Congenital adhesions of tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158667 | Congenital Abnormality | Aplasia of Lacrimal and Salivary Glands | Malformations of organs or body parts during development in utero. | A rare autosomal dominant disorder with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. |
C0000768 | has_associated_morphology | C0158669 | Congenital Abnormality | Congenital salivary gland fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158670 | Congenital Abnormality | Congenital fistula of lip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158684 | Congenital Abnormality | Anomalies of pancreas | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158687 | Congenital Abnormality | Congenital malformation of genital organs | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158689 | Congenital Abnormality | Fallopian tube and broad ligament anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0158695 | Congenital Abnormality | Embryonic cyst of cervix, vagina, and external female genitalia | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | 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 | has_associated_morphology | C0158795 | Congenital Abnormality | Other and unspecified congenital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0162635 | Congenital Abnormality | Angelman Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongu... |
C0000768 | has_associated_morphology | C0175691 | Congenital Abnormality | Dubowitz syndrome | Malformations of organs or body parts during development in utero. | Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. |
C0000768 | has_associated_morphology | C0175692 | Congenital Abnormality | Johanson-Blizzard syndrome | Malformations of organs or body parts during development in utero. | An extremely rare autosomal recessive condition caused by mutation(s) in the UBR1 gene, encoding E3 ubiquitin-protein ligase UBR1. It is characterized by failure to thrive, often due to pancreatic insufficiency, craniofacial abnormalities, and intellectual disability. |
C0000768 | has_associated_morphology | C0175693 | Congenital Abnormality | Russell-Silver syndrome | Malformations of organs or body parts during development in utero. | Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of ch... |
C0000768 | has_associated_morphology | C0175694 | Congenital Abnormality | Smith-Lemli-Opitz Syndrome | Malformations of organs or body parts during development in utero. | An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency... |
C0000768 | has_associated_morphology | C0175695 | Congenital Abnormality | Sotos' syndrome | Malformations of organs or body parts during development in utero. | Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing ne... |
C0000768 | has_associated_morphology | C0175697 | Congenital Abnormality | Van der Woude syndrome | Malformations of organs or body parts during development in utero. | Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. |
C0000768 | has_associated_morphology | C0175701 | Congenital Abnormality | Aarskog syndrome | Malformations of organs or body parts during development in utero. | A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. |
C0000768 | has_associated_morphology | C0175702 | Congenital Abnormality | Williams Syndrome | Malformations of organs or body parts during development in utero. | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... |
C0000768 | has_associated_morphology | C0175703 | Congenital Abnormality | Thrombocytopenia-Absent Radius Syndrome | Malformations of organs or body parts during development in utero. | A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system. |
C0000768 | has_associated_morphology | C0175778 | Congenital Abnormality | Larsen syndrome | Malformations of organs or body parts during development in utero. | An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. |
C0000768 | has_direct_morphology | C0192091 | Congenital Abnormality | Grafting of palate for cleft palate repair | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_direct_morphology | C0193034 | Congenital Abnormality | Decompression of imperforate anus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_direct_morphology | C0193077 | Congenital Abnormality | Duhamel operation, abdominoperineal pull-through | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_direct_morphology | C0193198 | Congenital Abnormality | Repair of congenital anovaginal fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_direct_morphology | C0193199 | Congenital Abnormality | Repair of congenital anovaginal fistula with cut-back type procedure | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_direct_morphology | C0193205 | Congenital Abnormality | Construction of anus for congenital absence with repair of urinary fistula | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0206554 | Congenital Abnormality | Odontodysplasia | Malformations of organs or body parts during development in utero. | A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp an... |
C0000768 | has_associated_morphology | C0220658 | Congenital Abnormality | Pfeiffer Syndrome | Malformations of organs or body parts during development in utero. | An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations. |
C0000768 | has_associated_morphology | C0220663 | Congenital Abnormality | Blepharophimosis, Ptosis, and Epicanthus Inversus | Malformations of organs or body parts during development in utero. | A rare ophthalmic disorder characterised by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). |
C0000768 | has_associated_morphology | C0220704 | Congenital Abnormality | Shprintzen syndrome | Malformations of organs or body parts during development in utero. | caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood. |
C0000768 | has_associated_morphology | C0220708 | Congenital Abnormality | VATER Association | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0220726 | Congenital Abnormality | Diastrophic dysplasia | Malformations of organs or body parts during development in utero. | A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). |
C0000768 | has_associated_morphology | C0220769 | Congenital Abnormality | FG syndrome | Malformations of organs or body parts during development in utero. | A multiple congenital anomaly/mental retardation syndrome characterized by a short stature, large head, hypotonia with or without joint contractures, seizures, imperforate anus, agenesis of the corpus callosum, and characteristic facies. "FG" stands for the surnames of patients in whom the syndrome was first reported. |
C0000768 | has_associated_morphology | C0221060 | Congenital Abnormality | Mobius Syndrome | Malformations of organs or body parts during development in utero. | A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, a... |
C0000768 | has_associated_morphology | C0221219 | Congenital Abnormality | Ectopic pancreas | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0221366 | Congenital Abnormality | Embryonic cyst of Gartner's duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0227918 | Congenital Abnormality | Epoophoron (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0227919 | Congenital Abnormality | Paroophoron | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0232511 | Congenital Abnormality | Disto-occlusion of teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0232512 | Congenital Abnormality | Mesio-occlusion of teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0235752 | Congenital Abnormality | Port-Wine Stain | Malformations of organs or body parts during development in utero. | A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: H... |
C0000768 | has_associated_morphology | C0236026 | Congenital Abnormality | Fetal valproate syndrome | Malformations of organs or body parts during development in utero. | A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). |
C0000768 | has_associated_morphology | C0238394 | Congenital Abnormality | Female Pseudohermaphroditism | Malformations of organs or body parts during development in utero. | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | has_associated_morphology | C0238395 | Congenital Abnormality | Male Pseudohermaphroditism | Malformations of organs or body parts during development in utero. | Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [https://orcid.org/0000-... |
C0000768 | has_associated_morphology | C0238402 | Congenital Abnormality | Pycnodysostosis | Malformations of organs or body parts during development in utero. | Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the ... |
C0000768 | has_associated_morphology | C0239119 | Congenital Abnormality | Lenticonus | Malformations of organs or body parts during development in utero. | A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. [HPO_CONTRIBUTOR:DDD_ncarter] |
C0000768 | has_associated_morphology | C0240340 | Congenital Abnormality | Microdontia (disorder) | Malformations of organs or body parts during development in utero. | Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. [https://orcid.org/0000-0002-9338-3017, PMID:19125428] |
C0000768 | has_associated_morphology | C0240635 | Congenital Abnormality | Byzanthine arch palate | Malformations of organs or body parts during development in utero. | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). [PMID:19125428] |
C0000768 | has_associated_morphology | C0241799 | Congenital Abnormality | Ruptured cerebral arteriovenous malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0241925 | Congenital Abnormality | Hutchinson's triad | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_associated_morphology | C0242385 | Congenital Abnormality | Crossbite | Malformations of organs or body parts during development in utero. | Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. [PMID:31468724] |
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