| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Holoprosencephaly and postaxial polydactyly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypospadias and intellectual disability syndrome Goldblatt type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrocephaly with spastic paraplegia and dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Deafness with epiphyseal dysplasia and short stature syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Potter sequence cleft lip and palate cardiopathy syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Trisomy 17p |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Trisomy 10p |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Short stature with craniofacial anomalies and genital hypoplasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Hypospadias and intellectual disability syndrome Goldblatt type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Ichthyosis cheek eyebrow syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephaly with deafness and intellectual disability syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Shprintzen Goldberg omphalocele syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
10 |
| Steinfeld syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Trisomy 17p |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Multicentric osteolysis nodulosis arthropathy spectrum |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Arthrogryposis multiplex congenita and whistling face syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Syndromic hypoplasia of orbital border |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Koolen De Vries syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Syndromic hypoplasia of orbital border |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Craniofacial digital and genital anomalies syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Craniofacial digital and genital anomalies syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Wolf Hirschhorn syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Camptodactyly with joint contracture and facial skeletal defect syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Camptodactyly with joint contracture and facial skeletal defect syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Congenital heart defect with round face and developmental delay syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Cranio-cerebello-cardiac dysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Hydrocephalus with cleft palate and joint contracture syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
10 |
| Cranio-cerebello-cardiac dysplasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Oro-facial digital syndrome type 11 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
9 |
| Oro-facial digital syndrome type 9 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability Seemanova type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Syndromic X-linked intellectual disability type 11 |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked intellectual disability Siderius type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked intellectual disability Stevenson type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability Stoll type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Pallister W syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| 14q11.2 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Carpenter Waziri syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability Stevenson type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| 14q11.2 microdeletion syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Short stature Brussels type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Pterygium colli with intellectual disability and digital anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Smith Fineman Myers syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Shprintzen Goldberg craniosynostosis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Pyknoachondrogenesis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Pelviscapular dysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Lethal faciocardiomelic dysplasia |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Branchioskeletogenital syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephalus cleft palate syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Cleft palate with short stature and vertebral anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Cleft palate with short stature and vertebral anomaly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Gingival fibromatosis with facial dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability with plagiocephaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| 8q22.1 microdeletion syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Wilson Turner syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Renal dysplasia with limb defect syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Van den Ende-Gupta syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ulna fibula ray defect and brachydactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Chromosome Xq28 trisomy |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Tel Hashomer camptodactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Camptodactyly syndrome Guadalajara type 1 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Acrofrontofacionasal dysostosis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Acrocraniofacial dysostosis |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Acrocephalopolydactyly |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Acromegaloid facial appearance syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Acrootoocular syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Bohring Opitz syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Anophthalmia plus syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Cerebro-facio-thoracic dysplasia |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Adducted thumbs and arthrogryposis syndrome Christian type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
11 |
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Craniosynostosis and intracranial calcification syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Deafness with skeletal dysplasia and lip granuloma syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Frank-Ter Haar syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |