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 |