Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spina bifida aperta of lumbar spine |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Duhamel operation, abdominoperineal pull-through |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Acquired anomaly of mouth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypotrichosis and deafness syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Conductive hearing loss, malformation of external ear syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Abnormal communication |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Vascular malformation |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Melnick-Needles syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hydromeningomyelocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Hydromeningomyelocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
6 |
Lumbar meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Lumbar meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Myelomeningocele without hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lipomyelomeningocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Thoracic meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Thoracic meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Cervical meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Cervical meningomyelocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Craniorhiny |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital septation |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Congenital hypersegmentation |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Trilobed structure |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Bilobed structure |
Is a |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
|
Bronchopulmonary collateral artery |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital vesicoureterorenal reflux, bilateral |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital vesicoureterorenal reflux, bilateral |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Multiple congenital anomalies, hypotonia, seizures syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cobblestone lissencephaly without muscular or ocular involvement |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hypersensitivity keratopathy of right eye caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of right optic disc |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of bilateral optic discs |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of bilateral optic discs |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of left optic disc |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Arthrogryposis and ectodermal dysplasia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Cerebral-retinal arteriovenous aneurysm |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Duplex kidney with reflux in one ureter |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Duplex kidney with reflux in both ureters |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Myelomeningocele co-occurrent with hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Aneurysm osteoarthritis syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lipomyelomeningocele |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Fetal spina bifida |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
21q22.11q22.12 microdeletion syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Meningomyelocele of lumbosacral spine |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
6 |
Meningomyelocele of lumbosacral spine |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Hypersensitivity keratopathy of left eye caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Release of constriction ring |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Stickler syndrome type 3 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Dry skin dermatitis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Myelomeningocele without hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Reunion Island Larsen-like syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
High lumbar myelomeningocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Low lumbar myelomeningocele |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
Osteochondrodysplasia with osteopetrosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Male pseudohermaphroditism due to 5-alpha-reductase deficiency |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Keratoderma blennorrhagicum |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
Division of constricting band on limb |
Direct morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Amelogenesis imperfecta, pigmented hypomaturation type |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Enamel-renal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Holzgreve syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia |
Direct morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
7 |
Arthrogryposis and ectodermal dysplasia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly, intellectual disability, autism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Osteopetrosis hypogammaglobulinemia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Oculoauriculofrontonasal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, polydactyly, ear lobe syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Brittle cornea syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Origin of innominate artery from left side of aortic arch |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Leprechaunism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
Leprechaunism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
Derangement of left knee |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Derangement of right knee |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Derangement of meniscus of right knee joint |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Derangement of meniscus of left knee joint |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
Derangement of meniscus of bilateral knee joints |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |