| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Lack of ossification of basisphenoid bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Acommissural unicuspid aortic valve |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Lack of ossification of lacrimal bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital abnormality of cardiac ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Commissural fusion of aortic valve |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Accessory tissue on pulmonary valve cusp |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Lack of ossification of premaxilla |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Quadricuspid aortic valve |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Unicommissural unicuspid aortic valve |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Lack of ossification of presphenoid bone |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Rhinocephaly |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| 13q12.3 microdeletion syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| 14q24.1q24.3 microdeletion syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Hypertelorism, preauricular sinus, punctual pits, deafness syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Hutchinson's triad |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Tapered teeth |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Developmental anomaly of root of tooth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Robinow syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Developmental abnormality of tooth size and form |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intramedullary glomus arteriovenous malformation of spinal cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Intramedullary and extramedullary arteriovenous malformation of spinal cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Otomandibular dysostosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Developmental abnormality of cusp of tooth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Developmental anomaly of crown and root formation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Temporo-auro-mandibular dysostosis |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Developmental anomaly of tooth |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Chudley McCullough syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of bilateral external ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of bilateral external ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Craniofacial dysplasia osteopenia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Craniofacial dysplasia osteopenia syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Genitopalatocardiac syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Genitopalatocardiac syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Flat face, microstomia, ear anomaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Flat face, microstomia, ear anomaly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Pitt Hopkins-like syndrome |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Emery Nelson syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Emery Nelson syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Ataxia, photosensitivity, short stature syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital malformation of bilateral ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital malformation of bilateral ears |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Single left ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Osteogenesis imperfecta with blue sclerae AND normal teeth |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Single right ventricle |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Nephrocystin 3-related Meckel-like syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Myelocele with hydrocephalus |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Progeroid and marfanoid aspect, lipodystrophy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dandy-Walker syndrome with spina bifida |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital overriding toes of bilateral feet |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Congenital overriding toes of right foot |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital overriding toes of left foot |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Temtamy preaxial brachydactyly syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Didymosis aplasticosebacea |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Temple syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lethal polymalformative syndrome Boissel type |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal recessive cutis laxa type 2B |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant aplasia and myelodysplasia |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital deformity of bilateral upper limbs |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Congenital deformity of bilateral upper limbs |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Long umbilical cord |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Marginal insertion of umbilical cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Maxillary asymmetry due to hemifacial hypertrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Asymmetry of jaw |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Maxillary asymmetry due to hemifacial atrophy |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Asymmetry of mandible |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Asymmetry of inferior border of mandible |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Velamentous insertion of umbilical cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Asymmetry of maxilla |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Four vessels in umbilical cord |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Impairment of hearing of left ear co-occurrent and due to congenital ear malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Impairment of hearing of right ear co-occurrent and due to congenital ear malformation |
Associated morphology |
True |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Photoonycholysis |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Nodular elastosis with cysts and comedones |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Sunburn of third degree |
Associated morphology |
False |
Morphologically abnormal structure |
Inferred relationship |
Existential restriction modifier |
2 |