Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Kapur Toriello syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft soft palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary lens coloboma (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hand with syndactyly (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lens coloboma |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital cleft of cardiac valve |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hand with polydactyly |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard and soft palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hard and soft palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral incomplete cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral incomplete cleft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hard and soft palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hard and soft palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sacral spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome d'Okamoto |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central complete cleft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central complete cleft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral complete cleft palate with cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital coloboma of optic disc |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Giant ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spina bifida of dorsal region (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbar myelocystocele (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tetralogy of Fallot with atresia of pulmonary valve |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oto-palato-digital syndrome, type II |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed subarterial ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft lip retinopathy syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Opitz-Frias syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft leaflet of tricuspid valve |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cervical spina bifida with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Doubly committed subarterial ventricular septal defect with membranous septum extension |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myelomeningocele and hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Roger's disease |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hologastroschisis (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Auricular abnormality, cleft lip, ocular abnormality syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft uvula |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete bilateral cleft palate |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete bilateral cleft palate |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft soft palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital cleft of posterior cricoid cartilage |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spina bifida |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myeloschisis |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete great vessel transposition |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tetralogy of Fallot with pulmonary stenosis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical spina bifida with hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic spina bifida with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbar spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Holorachischisis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Van der Woude syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fallot complex with intellectual disability and growth delay syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pentalogy of Fallot |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Secondary lens coloboma (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary lens coloboma |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetralogy of Fallot with absent pulmonary valve |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect in Fallot's tetralogy (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cervical myelocystocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thoracic myelocystocele |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracic spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spina bifida aperta of lumbar spine (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rachischisis with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervical spina bifida without hydrocephalus - open |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Zlotogora Ogur syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spina bifida aperta of thoracic spine (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cervical spina bifida without hydrocephalus - closed |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracic spina bifida without hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Ventricular septal defect with malaligned outlet septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypospadias, hypertelorism, coloboma, deafness syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ventricular septal defect with malaligned outlet septum to right |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |