Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Cerebellar-facial-dental syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
16p12.1p12.3 triplication syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
4q25 proximal deletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Lamb Shaffer syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
12p12.1 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Developmental and speech delay due to SRY-box 5 deficiency (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Oculocerebrodental syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Menke Hennekam syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Radiotherapy to face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Multiple epiphyseal dysplasia Lowry type (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
6 |
Marden Walker syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Abrasion of face |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Triopia |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
Swab from face (specimen) |
Specimen source topography |
True |
Face structure |
Inferred relationship |
Some |
1 |
Chronic orofacial pain due to nonvascular intracranial disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to infectious disease |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Chronic orofacial pain due to temporomandibular joint disorder (finding) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
Bite wound of face (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Autologous graft of rib cartilage to face |
Procedure site - Direct (attribute) |
True |
Face structure |
Inferred relationship |
Some |
1 |
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Clark Baraitser syndrome (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
KLHL7-related Bohring Opitz-like syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
Congenital pontocerebellar hypoplasia type 11 (disorder) |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
Congenital pontocerebellar hypoplasia type 12 |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |