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C0000754
has_associated_morphology
C0685544
Congenital abnormal fusion
Congenital abnormal fusion of centrum cartilage of lumbar vertebra
null
null
C0000754
has_associated_morphology
C0685562
Congenital abnormal fusion
Congenital abnormal fusion of arch of sacral vertebra
null
null
C0000754
has_associated_morphology
C0685571
Congenital abnormal fusion
Congenital abnormal fusion of centrum of sacral vertebra
null
null
C0000754
has_associated_morphology
C0685572
Congenital abnormal fusion
Congenital abnormal fusion of centrum cartilage of sacral vertebra
null
null
C0000754
has_associated_morphology
C0685590
Congenital abnormal fusion
Congenital abnormal fusion of arch of caudal vertebra
null
null
C0000754
has_associated_morphology
C0685590
Congenital abnormal fusion
Congenital abnormal fusion of arch of caudal vertebra
null
null
C0000754
has_associated_morphology
C0685598
Congenital abnormal fusion
Congenital abnormal fusion of centrum of caudal vertebra
null
null
C0000754
has_associated_morphology
C0685598
Congenital abnormal fusion
Congenital abnormal fusion of centrum of caudal vertebra
null
null
C0000754
has_associated_morphology
C0685636
Congenital abnormal fusion
Congenital abnormal fusion of rib cartilage
null
null
C0000754
has_associated_morphology
C0685646
Congenital abnormal fusion
Supernumerary fused sternebra
null
null
C0000754
has_associated_morphology
C0685653
Congenital abnormal fusion
Congenital abnormal fusion of ilium
null
null
C0000754
has_associated_morphology
C0685663
Congenital abnormal fusion
Congenital abnormal fusion of ischium
null
null
C0000754
has_associated_morphology
C0685682
Congenital abnormal fusion
Single naris
null
The presence of only a single nostril. [PMID:19152422]
C0000754
has_associated_morphology
C0685777
Congenital abnormal fusion
Congenital abnormal fusion of mandible
null
null
C0000754
has_associated_morphology
C0685782
Congenital abnormal fusion
Congenital abnormal fusion of maxilla
null
null
C0000754
has_associated_morphology
C0685814
Congenital abnormal fusion
Congenital abnormal fusion of liver lobes
null
null
C0000754
has_associated_morphology
C0685818
Congenital abnormal fusion
Congenital abnormal fusion of adrenal glands
null
null
C0000754
has_associated_morphology
C0685880
Congenital abnormal fusion
Congenital abnormal fusion of tympanic anulus
null
null
C0000754
has_associated_morphology
C0685895
Congenital abnormal fusion
Rhinocephaly
null
A congenital anatomic defect characterised by the presence of a proboscis-like nose located above the eyes, which are partially or completely fused.
C0000754
has_associated_morphology
C0685896
Congenital abnormal fusion
Acephaly
null
null
C0000754
has_associated_morphology
C0687154
Congenital abnormal fusion
Acrocephalopolysyndactyly
null
null
C0000754
has_associated_morphology
C0795915
Congenital abnormal fusion
Winter Shortland Temple syndrome
null
A form of syndromic craniosynostosis with characteristics of unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin, eyes and intestine. Developme...
C0000754
has_associated_morphology
C0795936
Congenital abnormal fusion
Faciocardiorenal syndrome
null
A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft p...
C0000754
has_associated_morphology
C0795940
Congenital abnormal fusion
Filippi syndrome
null
Filippi syndrome has manifestations of microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, ...
C0000754
has_associated_morphology
C0795998
Congenital abnormal fusion
JACKSON-WEISS SYNDROME
null
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
C0000754
has_associated_morphology
C0796066
Congenital abnormal fusion
Microcephaly cervical spine fusion anomalies
null
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in...
C0000754
has_associated_morphology
C1272619
Congenital abnormal fusion
Mule foot deformity
null
null
C0000754
has_associated_morphology
C1272619
Congenital abnormal fusion
Mule foot deformity
null
null
C0000754
has_associated_morphology
C1275078
Congenital abnormal fusion
Acrocephalopolysyndactyly type 2
null
A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of...
C0000754
has_associated_morphology
C1275079
Congenital abnormal fusion
Sakati syndrome
null
null
C0000754
has_associated_morphology
C1290450
Congenital abnormal fusion
Fronto-malar faciosynostosis
null
null
C0000754
has_associated_morphology
C1290453
Congenital abnormal fusion
Spheno-fronto-parietal craniofaciosynostosis
null
null
C0000754
has_associated_morphology
C1290468
Congenital abnormal fusion
Talocalcaneal coalition
null
null
C0000754
has_associated_morphology
C1290524
Congenital abnormal fusion
Fusion of crown of teeth
null
null
C0000754
has_associated_morphology
C1298767
Congenital abnormal fusion
Congenital bony fusion of phalanges
null
null
C0000754
has_associated_morphology
C1410077
Congenital abnormal fusion
Sternopagus
null
null
C0000754
has_associated_morphology
C1510455
Congenital abnormal fusion
Acrocephalosyndactylia
null
Congenital craniostenosis with syndactyly.
C0000754
has_associated_morphology
C1802405
Congenital abnormal fusion
Summitt syndrome
null
Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later desc...
C0000754
has_associated_morphology
C1832354
Congenital abnormal fusion
Deafness, Progressive, With Stapes Fixation
null
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympano...
C0000754
has_associated_morphology
C1832590
Congenital abnormal fusion
Craniosynostosis, Philadelphia Type
null
A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal cr...
C0000754
has_associated_morphology
C1833340
Congenital abnormal fusion
Synostotic Posterior Plagiocephaly
null
Premature fusion of one of the lambdoid sutures.
C0000754
has_associated_morphology
C1834038
Congenital abnormal fusion
Schilbach-Rott Syndrome
null
An autosomal dominant dysmorphic disorder with characteristics hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individu...
C0000754
has_associated_morphology
C1836206
Congenital abnormal fusion
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
null
A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus fo...
C0000754
has_associated_morphology
C1839311
Congenital abnormal fusion
Scott Bryant Graham syndrome
null
Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic pa...
C0000754
has_associated_morphology
C1839728
Congenital abnormal fusion
METACARPAL 4-5 FUSION
null
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an i...
C0000754
has_associated_morphology
C1846671
Congenital abnormal fusion
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
null
This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turn...
C0000754
has_associated_morphology
C1849719
Congenital abnormal fusion
Bonneau Syndrome
null
Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Oth...
C0000754
has_associated_morphology
C1851100
Congenital abnormal fusion
LAURIN-SANDROW SYNDROME
null
Complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis).
C0000754
has_associated_morphology
C1853812
Congenital abnormal fusion
Acropectoral syndrome
null
Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and...
C0000754
has_associated_morphology
C1856197
Congenital abnormal fusion
Kleiner Holmes syndrome
null
A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplicatio...
C0000754
has_associated_morphology
C1859309
Congenital abnormal fusion
Syndactyly Cenani Lenz type
null
A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but...
C0000754
has_associated_morphology
C1861348
Congenital abnormal fusion
Syndactyly, type v
null
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, ...
C0000754
has_associated_morphology
C1861355
Congenital abnormal fusion
Syndactyly, Type IV
null
A rare non-syndromic syndactyly characterised by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.
C0000754
has_associated_morphology
C1861366
Congenital abnormal fusion
SYNDACTYLY, TYPE III
null
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.
C0000754
has_associated_morphology
C1861380
Congenital abnormal fusion
Syndactyly, Type I
null
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between...
C0000754
has_associated_morphology
C1861963
Congenital abnormal fusion
Camptobrachydactyly
null
An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were als...
C0000754
has_associated_morphology
C1862319
Congenital abnormal fusion
Banki Syndrome
null
A synostosis syndrome reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since...
C0000754
has_associated_morphology
C1866745
Congenital abnormal fusion
Splenogonadal fusion limb defects micrognatia
null
A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid...
C0000754
has_associated_morphology
C1867999
Congenital abnormal fusion
Polysyndactyly, Crossed
null
A rare genetic congenital limb malformation disorder with characteristics of unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patie...
C0000754
has_associated_morphology
C2676085
Congenital abnormal fusion
Occipitalization of atlas
null
null
C0000754
has_associated_morphology
C2678045
Congenital abnormal fusion
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
null
Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown funct...
C0000754
has_associated_morphology
C2699746
Congenital abnormal fusion
Syndactyly, type 2
null
A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manne...
C0000754
has_associated_morphology
C2910260
Congenital abnormal fusion
Syndactyly of fingers of bilateral hands
null
null
C0000754
has_associated_morphology
C2919488
Congenital abnormal fusion
Complex syndactyly of fingers
null
null
C0000754
has_associated_morphology
C2919807
Congenital abnormal fusion
Symbrachydactyly of toe
null
null
C0000754
has_associated_morphology
C2930865
Congenital abnormal fusion
Ramer Ladda syndrome
null
An abnormal osseous union (fusion) between the radius and the humerus. [https://orcid.org/0009-0006-4530-3154]
C0000754
has_associated_morphology
C2931046
Congenital abnormal fusion
Heart defect, tongue hamartoma and polysyndactyly
null
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is ...
C0000754
has_associated_morphology
C2931776
Congenital abnormal fusion
Der Kaloustian Mcintosh Silver syndrome
null
An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).
C0000754
has_associated_morphology
C2977497
Congenital abnormal fusion
Simple syndactyly of toes of right foot
null
null
C0000754
has_associated_morphology
C2977498
Congenital abnormal fusion
Simple syndactyly of toes of left foot
null
null
C0000754
has_associated_morphology
C3150890
Congenital abnormal fusion
Tsukahara Syndrome
null
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
C0000754
has_associated_morphology
C3164519
Congenital abnormal fusion
Commissural fusion of truncal valve
null
null
C0000754
has_associated_morphology
C3267187
Congenital abnormal fusion
Capra DeMarco syndrome
null
Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consangui...
C0000754
has_associated_morphology
C3494175
Congenital abnormal fusion
Incisors, Fused Mandibular
null
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.
C0000754
has_associated_morphology
C3531850
Congenital abnormal fusion
Thoracopagus with separate hearts and pericardial sacs
null
null
C0000754
has_associated_morphology
C3531851
Congenital abnormal fusion
Thoracopagus with separate hearts and common pericardial sac
null
null
C0000754
has_associated_morphology
C3531852
Congenital abnormal fusion
Thoracopagus with conjoined atria
null
null
C0000754
has_associated_morphology
C3531853
Congenital abnormal fusion
Thoracopagus with conjoined atria and ventricles
null
null
C0000754
has_associated_morphology
C3531854
Congenital abnormal fusion
Rachipagus
null
null
C0000754
has_associated_morphology
C3531871
Congenital abnormal fusion
Parapagus
null
null
C0000754
has_associated_morphology
C3531872
Congenital abnormal fusion
Dithoracic parapagus
null
null
C0000754
has_associated_morphology
C3531873
Congenital abnormal fusion
Dicephalic parapagus
null
null
C0000754
has_direct_morphology
C3697346
Congenital abnormal fusion
Correction of syndactyly with skin flap
null
null
C0000754
has_direct_morphology
C3697958
Congenital abnormal fusion
Correction of syndactyly with skin flap and graft
null
null
C0000754
has_associated_morphology
C3840106
Congenital abnormal fusion
Transitional lumbosacral vertebra
null
Condition with either the sacralisation of the lowest lumbar segment or the lumbarisation of the most superior sacral segment of the spine.
C0000754
has_associated_morphology
C4225285
Congenital abnormal fusion
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
null
A rare genetic disease with the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and vario...
C0000754
has_associated_morphology
C4281153
Congenital abnormal fusion
Tarsal coalition of left foot
null
null
C0000754
has_associated_morphology
C4281154
Congenital abnormal fusion
Tarsal coalition of right foot
null
null
C0000754
has_associated_morphology
C4303550
Congenital abnormal fusion
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
null
Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
C0000754
has_associated_morphology
C4303670
Congenital abnormal fusion
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
null
Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
C0000754
has_associated_morphology
C4303859
Congenital abnormal fusion
Craniofrontonasal dysplasia with Poland anomaly syndrome
null
A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far.
C0000754
has_associated_morphology
C4303990
Congenital abnormal fusion
Brachydactyly with syndactyly Zhao type
null
A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two ...
C0000754
has_associated_morphology
C4304033
Congenital abnormal fusion
Aphalangy and syndactyly with microcephaly syndrome
null
An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
C0000754
has_associated_morphology
C4304347
Congenital abnormal fusion
Timothy syndrome type 2
null
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Ti...
C0000754
has_associated_morphology
C4304738
Congenital abnormal fusion
Cleft palate with stapes fixation and oligodontia syndrome
null
Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It h...
C0000754
has_associated_morphology
C4304839
Congenital abnormal fusion
Progressive non-infectious anterior vertebral fusion
null
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder with characteristics of the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Prevalence is unknown, but PAVF (mostly isolated cases) has bee...
C0000754
has_associated_morphology
C4316558
Congenital abnormal fusion
Congenital right radioulnar synostosis
null
null
C0000754
has_associated_morphology
C4316559
Congenital abnormal fusion
Radioulnar synostosis of left upper limb
null
null
C0000754
has_associated_morphology
C4325574
Congenital abnormal fusion
Fused roots
null
null
C0000754
has_associated_morphology
C4509812
Congenital abnormal fusion
Congenital chorioretinal coloboma of left eye
null
null