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 ⌀ |
|---|---|---|---|---|---|---|
C0000754 | inverse_isa | C0000768 | Congenital abnormal fusion | Congenital Abnormality | null | Malformations of organs or body parts during development in utero. |
C0000754 | inverse_isa | C0332466 | Congenital abnormal fusion | Fused structure | null | null |
C0000754 | has_associated_morphology | C0001193 | Congenital abnormal fusion | Apert syndrome | null | An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. |
C0000754 | has_associated_morphology | C0016873 | Congenital abnormal fusion | Fused Teeth | null | Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both. |
C0000754 | has_associated_morphology | C0022738 | Congenital abnormal fusion | Klippel-Feil Syndrome | null | 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. |
C0000754 | has_associated_morphology | C0032357 | Congenital abnormal fusion | Poland Syndrome | null | A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. |
C0000754 | has_associated_morphology | C0037205 | Congenital abnormal fusion | Sirenomelia | null | 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... |
C0000754 | has_associated_morphology | C0039075 | Congenital abnormal fusion | Syndactyly | null | A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining ... |
C0000754 | has_associated_morphology | C0041428 | Congenital abnormal fusion | Twins, Conjoined | null | MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, ... |
C0000754 | has_associated_morphology | C0152436 | Congenital abnormal fusion | Hymen, Imperforate | null | 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] |
C0000754 | has_associated_morphology | C0158736 | Congenital abnormal fusion | Syndactyly of fingers with fusion of bones | null | Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. [https://orcid.org/0009-0006-4530-3154] |
C0000754 | has_associated_morphology | C0158738 | Congenital abnormal fusion | Syndactyly of toes with fusion of bones | null | Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism"." [https://orcid.org/0009-000... |
C0000754 | has_associated_morphology | C0158761 | Congenital abnormal fusion | Radioulnar Synostosis | null | An abnormal osseous union (fusion) between the radius and the ulna. [https://orcid.org/0000-0002-0736-9199] |
C0000754 | has_associated_morphology | C0175699 | Congenital abnormal fusion | Saethre-Chotzen Syndrome | null | A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. |
C0000754 | has_direct_morphology | C0191427 | Congenital abnormal fusion | Repair of syndactyly | null | null |
C0000754 | has_associated_morphology | C0220658 | Congenital abnormal fusion | Pfeiffer Syndrome | null | 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. |
C0000754 | has_associated_morphology | C0221352 | Congenital abnormal fusion | Syndactyly of fingers | null | Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism"." [https://orcid.org/0000-0002-0736-9199] |
C0000754 | has_associated_morphology | C0221353 | Congenital abnormal fusion | Horseshoe Kidney | null | Congenital fusion of two kidneys in the lower midline. |
C0000754 | has_associated_morphology | C0239054 | Congenital abnormal fusion | Coloboma of choroid | null | null |
C0000754 | has_associated_morphology | C0240896 | Congenital abnormal fusion | Fundus coloboma | null | Absence of a region of the retina, retinal pigment epithelium, and choroid. [https://orcid.org/0000-0002-0736-9199] |
C0000754 | has_associated_morphology | C0265239 | Congenital abnormal fusion | Wildervanck's syndrome | null | Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. |
C0000754 | has_associated_morphology | C0265303 | Congenital abnormal fusion | ACROCEPHALOPOLYSYNDACTYLY TYPE IV | null | Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descri... |
C0000754 | has_associated_morphology | C0265536 | Congenital abnormal fusion | Imperfect fusion of skull | null | null |
C0000754 | has_associated_morphology | C0265553 | Congenital abnormal fusion | Polysyndactyly | null | A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). |
C0000754 | has_associated_morphology | C0265651 | Congenital abnormal fusion | Astragaloscaphoid synostosis | null | null |
C0000754 | has_associated_morphology | C0265652 | Congenital abnormal fusion | Calcaneonavicular bar | null | null |
C0000754 | has_associated_morphology | C0265653 | Congenital abnormal fusion | Coalition of calcaneus | null | null |
C0000754 | has_associated_morphology | C0265654 | Congenital abnormal fusion | Tarsal Coalition | null | Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature. |
C0000754 | has_associated_morphology | C0265660 | Congenital abnormal fusion | Syndactyly of the toes | null | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism"." [https://orcid.org/0000-0002-0736-9199] |
C0000754 | has_associated_morphology | C0265678 | Congenital abnormal fusion | Congenital fusion of spine | null | null |
C0000754 | has_associated_morphology | C0265682 | Congenital abnormal fusion | Sacralization of lumbar vertebra | null | null |
C0000754 | has_associated_morphology | C0265685 | Congenital abnormal fusion | Congenital fusion of sacroiliac joint | null | null |
C0000754 | has_associated_morphology | C0265695 | Congenital abnormal fusion | Congenital fusion of ribs | null | Complete or partial merging of adjacent ribs. [https://orcid.org/0000-0002-0736-9199] |
C0000754 | has_associated_morphology | C0265709 | Congenital abnormal fusion | Assimilation pelvis | null | null |
C0000754 | has_associated_morphology | C0265710 | Congenital abnormal fusion | High assimilation pelvis | null | null |
C0000754 | has_associated_morphology | C0265711 | Congenital abnormal fusion | Low assimilation pelvis | null | null |
C0000754 | has_associated_morphology | C0265782 | Congenital abnormal fusion | Unilobar lung | null | null |
C0000754 | has_associated_morphology | C0265826 | Congenital abnormal fusion | Bicuspid cardiac valve | null | null |
C0000754 | has_associated_morphology | C0265850 | Congenital abnormal fusion | Fused commissures of mitral valve | null | null |
C0000754 | has_associated_morphology | C0266033 | Congenital abnormal fusion | Gemination of teeth | null | The development of two teeth from a single tooth bud, leading to a larger fused tooth. [PMID:18167487] |
C0000754 | has_associated_morphology | C0266096 | Congenital abnormal fusion | Synchilia | null | null |
C0000754 | has_associated_morphology | C0266305 | Congenital abnormal fusion | Fused Kidney | null | Congenital fusion of two kidneys. |
C0000754 | has_associated_morphology | C0266361 | Congenital abnormal fusion | Hermaphroditism, True | null | An historical term for conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes. |
C0000754 | has_associated_morphology | C0266419 | Congenital abnormal fusion | Synechia vulvae | null | Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. [PMID:17364294, PMID:29262197] |
C0000754 | has_associated_morphology | C0266428 | Congenital abnormal fusion | Congenital fusion of testis | null | null |
C0000754 | has_associated_morphology | C0266602 | Congenital abnormal fusion | Congenital fusion of ossicles of ear | null | null |
C0000754 | has_associated_morphology | C0266636 | Congenital abnormal fusion | Splenogonadal fusion | null | A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ecto... |
C0000754 | has_associated_morphology | C0266658 | Congenital abnormal fusion | Autositic twin of asymmetrical conjoined twins | null | null |
C0000754 | has_associated_morphology | C0266659 | Congenital abnormal fusion | Parasitic twin of asymmetrical conjoined twins | null | null |
C0000754 | has_associated_morphology | C0266674 | Congenital abnormal fusion | Cranial duplication | null | null |
C0000754 | has_associated_morphology | C0266684 | Congenital abnormal fusion | Fetus in fetu | null | Rare abnormality where a fetal part of an identical twin that stopped developing during gestation is found within a normally developing fetus. It is considered a TWIN PREGNANCY complication. |
C0000754 | has_associated_morphology | C0266685 | Congenital abnormal fusion | double; monster | null | null |
C0000754 | has_associated_morphology | C0266686 | Congenital abnormal fusion | Anadidymus | null | null |
C0000754 | has_associated_morphology | C0266687 | Congenital abnormal fusion | Cephalodymus | null | null |
C0000754 | has_associated_morphology | C0266689 | Congenital abnormal fusion | Cephalothoracopagus | null | null |
C0000754 | has_associated_morphology | C0266690 | Congenital abnormal fusion | Thoracodelphus | null | null |
C0000754 | has_associated_morphology | C0266691 | Congenital abnormal fusion | Pygodidymus | null | null |
C0000754 | has_associated_morphology | C0266692 | Congenital abnormal fusion | Craniopagus | null | null |
C0000754 | has_associated_morphology | C0266693 | Congenital abnormal fusion | Craniopagus occipitalis | null | null |
C0000754 | has_associated_morphology | C0266694 | Congenital abnormal fusion | Craniopagus parietalis | null | null |
C0000754 | has_associated_morphology | C0266695 | Congenital abnormal fusion | Monocephalus (disorder) | null | null |
C0000754 | has_associated_morphology | C0266696 | Congenital abnormal fusion | Monocephalus tetrapus dibrachius | null | null |
C0000754 | has_associated_morphology | C0266697 | Congenital abnormal fusion | Monocephalus tripus dibrachius | null | null |
C0000754 | has_associated_morphology | C0266698 | Congenital abnormal fusion | Syncephalus | null | null |
C0000754 | has_associated_morphology | C0266699 | Congenital abnormal fusion | Deradelphus | null | null |
C0000754 | has_associated_morphology | C0266700 | Congenital abnormal fusion | Janiceps (disorder) | null | null |
C0000754 | has_associated_morphology | C0266701 | Congenital abnormal fusion | Anakatadidymus | null | null |
C0000754 | has_associated_morphology | C0266702 | Congenital abnormal fusion | Gastrothoracopagus | null | null |
C0000754 | has_associated_morphology | C0266703 | Congenital abnormal fusion | Thoracodidymus | null | null |
C0000754 | has_associated_morphology | C0266704 | Congenital abnormal fusion | Thoracopagus | null | null |
C0000754 | has_associated_morphology | C0266705 | Congenital abnormal fusion | Thoracopagus parasiticus | null | null |
C0000754 | has_associated_morphology | C0266706 | Congenital abnormal fusion | Thoracopagus epigastricus | null | null |
C0000754 | has_associated_morphology | C0266707 | Congenital abnormal fusion | Thoracoparacephalus | null | null |
C0000754 | has_associated_morphology | C0266709 | Congenital abnormal fusion | Omphaloangiopagus | null | null |
C0000754 | has_associated_morphology | C0266711 | Congenital abnormal fusion | Pygopagus | null | null |
C0000754 | has_associated_morphology | C0266712 | Congenital abnormal fusion | Katadidymus | null | null |
C0000754 | has_associated_morphology | C0266713 | Congenital abnormal fusion | Heterodymus | null | null |
C0000754 | has_associated_morphology | C0266714 | Congenital abnormal fusion | Dicephalus dipus tetrabrachius | null | null |
C0000754 | has_associated_morphology | C0266715 | Congenital abnormal fusion | Dicephalus dipus tribrachius | null | null |
C0000754 | has_associated_morphology | C0266716 | Congenital abnormal fusion | Dicephalus tripus tribrachius | null | null |
C0000754 | has_associated_morphology | C0266717 | Congenital abnormal fusion | Acardius | null | A severe form of twin-twin transfusion syndrome that occurs in monochorionic pregnancies. The normal twin (pump twin) supplies the blood flow to its sibling that lacks heart or brain or both (acardiac/acephalic twin). Untreated, it may lead to the demise of the pump twin in some cases. |
C0000754 | has_associated_morphology | C0266720 | Congenital abnormal fusion | Acardiacus anceps | null | null |
C0000754 | has_associated_morphology | C0266723 | Congenital abnormal fusion | Compound monster, NOS | null | null |
C0000754 | has_associated_morphology | C0266724 | Congenital abnormal fusion | Desmiognathus | null | null |
C0000754 | has_associated_morphology | C0266725 | Congenital abnormal fusion | Epignathus | null | Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstr... |
C0000754 | has_associated_morphology | C0266726 | Congenital abnormal fusion | Thoracomelus | null | null |
C0000754 | has_associated_morphology | C0266727 | Congenital abnormal fusion | Ischiomelus | null | null |
C0000754 | has_associated_morphology | C0266728 | Congenital abnormal fusion | Pygomelus | null | null |
C0000754 | has_associated_morphology | C0266729 | Congenital abnormal fusion | Gastrothoracopagus dipygus | null | null |
C0000754 | has_associated_morphology | C0266735 | Congenital abnormal fusion | Derodidymis | null | null |
C0000754 | has_associated_morphology | C0266736 | Congenital abnormal fusion | Dicephalus dipus dibrachius | null | null |
C0000754 | has_associated_morphology | C0266739 | Congenital abnormal fusion | Pygoamorphus | null | null |
C0000754 | has_associated_morphology | C0266740 | Congenital abnormal fusion | Symmetrical conjoined twins | null | null |
C0000754 | has_associated_morphology | C0266741 | Congenital abnormal fusion | Xiphopagus | null | null |
C0000754 | has_associated_morphology | C0266742 | Congenital abnormal fusion | Asymmetrical conjoined twins | null | null |
C0000754 | has_associated_morphology | C0269719 | Congenital abnormal fusion | disproportion at birth due to conjoined twins | null | null |
C0000754 | has_associated_morphology | C0344757 | Congenital abnormal fusion | Fused tricuspid papillary muscle | null | null |
C0000754 | has_associated_morphology | C0344781 | Congenital abnormal fusion | Fused mitral papillary muscles | null | null |
C0000754 | has_associated_morphology | C0344822 | Congenital abnormal fusion | Fused common atrioventricular valve papillary muscle | null | null |
C0000754 | has_associated_morphology | C0344850 | Congenital abnormal fusion | Congenital fusion of right atrioventricular valve papillary muscles | null | null |
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