| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Okamoto syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Deafness and intellectual disability Martin Probst type syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Deafness craniofacial syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Acrocallosal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia Cantu type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| CLAPO syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Noonan syndrome-like disorder with loose anagen hair |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Arteriovenous malformation of frontonasal process |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Juberg Hayward syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Orofaciodigital syndrome type 11 |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Intellectual disability, balding, patella luxation, acromicria syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Say Barber Miller syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
5 |
| Orofaciodigital syndrome type 8 |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Polyvalvular heart disease syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Joubert syndrome with orofaciodigital defect |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Cerebro-facio-thoracic dysplasia |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Gollop syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Ulna fibula ray defect and brachydactyly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Dysmorphism, pectus carinatum, joint laxity syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| CHIME syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| Smith Fineman Myers syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| Bencze syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Acrocraniofacial dysostosis |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Congenital hereditary facial paralysis with variable hearing loss syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Acromegaloid facial appearance syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Craniosynostosis and intracranial calcification syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Short stature Brussels type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Jawad syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| Brain malformation, congenital heart disease, postaxial polydactyly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Hypertrichosis and acromegaloid facial appearance syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
2 |
| Perlman syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Trisomy Xq28 |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| X-linked intellectual disability with plagiocephaly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Pterygium colli with intellectual disability and digital anomaly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Pyknoachondrogenesis |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Cloverleaf skull with multiple congenital anomalies syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Qazi Markouizos syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Carbuncle of face NOS |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia with blindness syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Oculocerebrofacial syndrome Kaufman type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Renier Gabreels Jasper syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Autosomal recessive faciodigitogenital syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Acrofrontofacionasal dysostosis type 2 |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| FG syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Ulbright Hodes syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Bohring Opitz syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Epilepsy telangiectasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
4 |
| 15q overgrowth syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Isotretinoin-like syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| GAPO syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Van den Ende-Gupta syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Gingival fibromatosis with facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Craniomicromelic syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Fountain syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Neurofaciodigitorenal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Robinow-like syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
3 |
| Severe X-linked intellectual disability Gustavson type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Lethal faciocardiomelic dysplasia |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Cyprus facial neuromusculoskeletal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Goldberg Shprintzen megacolon syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Short stature with webbed neck and congenital heart disease syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
1 |
| Cataract, congenital heart disease, neural tube defect syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Hypertelorism Teebi type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Adducted thumbs and arthrogryposis syndrome Christian type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Filippi syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Cerebrooculonasal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| SCARF syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Oral-facial-digital syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Ehlers-Danlos syndrome musculocontractural type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Tel Hashomer camptodactyly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Some |
4 |
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Camptodactyly syndrome Guadalajara type 1 |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
2 |
| Branchioskeletogenital syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Nasopalpebral lipoma coloboma syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Ultrasound guided biopsy of face and neck |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Ultrasound guided biopsy of face and neck |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Ultrasound of face and neck |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Thakker Donnai syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Spondyloepimetaphyseal dysplasia Genevieve type |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |
| Zechi Ceide syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
3 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Some |
1 |