| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Thin ribs, tubular bones, dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Herpes barbae |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Melnick-Needles syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Multiple congenital anomalies, hypotonia, seizures syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Solitary median maxillary central incisor syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Aneurysm osteoarthritis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| 21q22.11q22.12 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Stickler syndrome type 3 |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Potter's facies |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Reunion Island Larsen-like syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Persistent idiopathic facial pain |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Arthrogryposis and ectodermal dysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrocephaly, intellectual disability, autism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Oculoauriculofrontonasal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Acrofrontofacionasal dysostosis type 2 |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Femoral hypoplasia - unusual facies syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Leprechaunism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Chemical burn of face |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Hennekam lymphangiectasia-lymphedema syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Desbuquois syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Winchester syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Williams syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Fragile X syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Neurofibroma of face |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Angelman syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Neu-Laxova syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Marshall-Smith syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Trichorhinophalangeal syndrome type 1 and 3 |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Craniofacial deafness hand syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Myhre syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Barber-Say syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Structure of jaw region of face |
Is a |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
|
| Open wound of jaw with complication |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Open wound of jaw without complication |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Finding related to jaw protrusion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Severely limited jaw protrusion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Limited jaw protrusion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Normal jaw protrusion |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalus with albinism and digital anomaly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Complex laceration of chin |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Contaminated complex laceration of chin |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Chin lift |
Procedure site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Pain in chin |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Gunshot wound of face |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Oromandibular-limb hypogenesis spectrum |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Goldenhar syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Otomandibular dysostosis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Glossopalatine ankylosis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Acrorenal mandibular syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Hypomandibular faciocranial dysostosis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Agnathia, holoprosencephaly, situs inversus syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Distal limb deficiency with micrognathia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Thickened earlobe with conductive deafness syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Splenogonadal fusion, limb defect, micrognathia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Charlie M syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Mandibular hypoplasia, deafness, progeroid syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Megalencephaly capillary malformation |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Crush injury of face and scalp |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| 14q32 deletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant Robinow syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Autosomal recessive Robinow syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Malposition of fetus in face presentation |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Right mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Left mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Left mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Right mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Left mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Right mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Direct mentoanterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Direct mentoposterior position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Mentolateral position |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Cutis laxa-corneal clouding-oligophrenia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Foreign body in skin of face with infection |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Craniofrontonasal dysplasia with Poland anomaly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| 6q16 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Primary leiomyosarcoma of face |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Primary angiosarcoma of face |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |