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 |