| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Timothy syndrome type 2 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation syndromes associated with short stature |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Central serous retinopathy with pit of optic disc |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital anomaly of spermatic cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dentinogenesis imperfecta - Shield's type I |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Total anomalous pulmonary venous connection of intracardiac type |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Anophthalmia plus syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital midvalvar ring of mitral leaflet |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital failure of eye elevation |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Systemic to pulmonary collateral artery from right brachiocephalic artery |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Systemic to pulmonary collateral artery from right brachiocephalic artery |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Deafness, enamel hypoplasia, nail defect syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Myopathy with type I hypotrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Branchiogenic deafness syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Tricho-oculodermovertebral syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Tricho-oculodermovertebral syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ear, face and neck congenital anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ear, face and neck congenital anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ear, face and neck congenital anomalies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| First and second branchial arch syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| First and second branchial arch syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Barkan membrane |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Eisenmenger's defect |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Myelocystocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital anomaly of talus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Melnick-Fraser syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Melnick-Fraser syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intracardiac location of anomalous pulmonary venous connection to right atrium |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Phakomatosis caesiomarmorata |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Phakomatosis caesiomarmorata |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Phakomatosis caesiomarmorata |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Semi-lobar holoprosencephaly |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Potter's facies |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of trachea and bronchus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of trachea and bronchus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Cobb's syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Cobb's syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lack of ossification of palatine bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital convoluted ureter |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Hemianencephaly |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Primary vesicoureteric reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Russell-Silver syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital hypomyelinating neuropathy |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Criss-cross heart |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lack of ossification of clavicle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital myelin deficiency of the optic disc |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Microcephaly with deafness and intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Trichodermodysplasia and dental alterations syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Trichodermodysplasia and dental alterations syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Trichodermodysplasia and dental alterations syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Upper moiety ureter of duplex kidney |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lissencephaly syndrome Norman Roberts type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lissencephaly syndrome Norman Roberts type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Syndactyly, telecanthus, anogenital and renal malformation syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Thyroglossal duct sinus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ischio-vertebral syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Bardet-Biedl syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Cerebrooculonasal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Cerebrooculonasal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Double outlet right ventricle |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Short rib-polydactyly syndrome, Majewski type |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Marshall-Smith syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Deafness with malformation of ear and facial palsy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Schilbach Rott syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital esophageal ring |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital secondary pulmonary lymphangiectasis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Fatal congenital nonlysosomal heart glycogenosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dysplastic ovary |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital anomaly of subcutaneous tissue |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital intracranial vascular malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dumbbell ossification of centrum of cervical vertebra |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Pseudocryptorchism |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Pseudocryptorchism |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Duane's syndrome of left eye |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Duane's syndrome of left eye |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital abnormality of scrotum |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Pena-Shokeir phenotype |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Cerebro-oculo-facio-skeletal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Major systemic to pulmonary collateral artery supplying part of left lung |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Major systemic to pulmonary collateral artery supplying part of left lung |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Fetal minoxidil syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of eye, ear and neck |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of eye, ear and neck |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of eye, ear and neck |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Posterior perimaxillary faciosynostosis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of thumb |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Fissured spine |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Total anomalous pulmonary venous connection to right atrium |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked limb girdle muscular dystrophy with normal dystrophin |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Sacral spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital left vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital left vesicoureterorenal reflux |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Specified anomalies of choroid |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ectopic pancreatic tissue in stomach |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Fetal aminopterin syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Fetal aminopterin syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |