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 |