| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| dysplasie spondylo-épimétaphysaire type Geneviève |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Zechi Ceide syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Roifman syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| 9q31.1q31.3 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| 13q12.3 microdeletion syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| 14q24.1q24.3 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Robinow syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Craniofacial dysplasia osteopenia syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Flat face, microstomia, ear anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Pitt Hopkins-like syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
| Emery Nelson syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| MRI of head and face with contrast |
Procedure site - Direct (attribute) |
True |
face |
Inferred relationship |
Some |
1 |
| Needle stick injury of cheek |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
| Needle stick injury of nose |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
| Crush injury, face NOS |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
| Other face injuries |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
| syndrome de Temple |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Lethal polymalformative syndrome Boissel type |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Non-surgical biopsy face NOS |
localisation de l'intervention (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
| Facial profile finding |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Complexion finding |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
|
| Facial appearance finding |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Maxillofacial bone structure |
est un(e) (attribut) |
True |
face |
Inferred relationship |
Some |
|
| Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Thin ribs, tubular bones, dysmorphism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| RIDDLE syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Herpes barbae (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability due to GRIA3 mutations |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Melnick-Needles syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Ultrasonography of paranasal sinuses |
Procedure site - Direct (attribute) |
False |
face |
Inferred relationship |
Some |
1 |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Stimmler syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
| Solitary median maxillary central incisor syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Aneurysm osteoarthritis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| 21q22.11q22.12 microdeletion syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Stickler syndrome type 3 (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Potter's facies |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Reunion Island Larsen-like syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Persistent idiopathic facial pain |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Arthrogryposis and ectodermal dysplasia syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Macrocephaly, intellectual disability, autism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Oculoauriculofrontonasal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Acrofrontofacionasal dysostosis type 2 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Femoral hypoplasia - unusual facies syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Leprechaunism syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Chemical burn of face (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Hennekam syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Desbuquois syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
| Winchester syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Williams syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
5 |
| Fragile X syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Neurofibroma of face (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Angelman syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Neu-Laxova syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
| Marshall-Smith syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Trichorhinophalangeal syndrome type 1 and 3 |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Craniofacial deafness hand syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Myhre syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
| Barber-Say syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
| Structure of jaw region of face |
est un(e) (attribut) |
False |
face |
Inferred relationship |
Some |
|
| Open wound of jaw with complication |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
| Open wound of jaw without complication |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
| Finding related to jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Severely limited jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Limited jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Normal jaw protrusion (finding) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
| Microcephalus with albinism and digital anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
6 |