| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Alopecia, contracture, dwarfism, intellectual disability syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Craniosynostosis Boston type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Cerebrooculonasal syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ehlers-Danlos syndrome musculocontractural type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Craniosynostosis Boston type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Filippi syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Frank-Ter Haar syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Magnetic resonance imaging of face without contrast |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Magnetic resonance imaging of face and orbit with contrast |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Chudley Lowry Hoar syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Cerebro-oculo-dento-auriculo-skeletal syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Fine Lubinsky syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Hall Riggs syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Short stature with webbed neck and congenital heart disease syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
10 |
| Deafness and intellectual disability Martin Probst type syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Cloverleaf skull with multiple congenital anomalies syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
11 |
| Magnetic resonance imaging of face and orbit without contrast |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Hydrocephalus, cardiac malformation, dense bone syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability, epilepsy, bulbous nose syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Holmes Gang syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Juberg Marsidi syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Puerto Rican infant hypotonia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Schilbach Rott syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Goldberg Shprintzen megacolon syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
9 |
| Brain malformation, congenital heart disease, postaxial polydactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Hypertrichosis and acromegaloid facial appearance syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Juberg Hayward syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Robinow-like syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Lymphedema, atrial septal defect, facial changes syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Acrofrontofacionasal dysostosis type 2 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Joubert syndrome with orofaciodigital defect |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Magnetic resonance imaging of orbit, face and neck without contrast |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Kapur Toriello syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Isotretinoin embryopathy-like syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Magnetic resonance imaging of orbit, face and neck with contrast |
Procedure site - Direct |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Macrocephaly, short stature, paraplegia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, balding, patella luxation, acromicria syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Congenital hereditary facial paralysis with variable hearing loss syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Oculocerebrofacial syndrome Kaufman type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Oro-facial digital syndrome type 10 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Oro-facial digital syndrome type 5 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Oro-facial digital syndrome type 8 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe X-linked intellectual disability Gustavson type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Toriello Carey syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Osteosclerosis, developmental delay, craniosynostosis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Perlman syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Ectodermal dysplasia with blindness syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Cyst of face |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Endocrine-cerebro-osteodysplasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Okamoto syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Endocrine-cerebro-osteodysplasia syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Faciocardiorenal syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Microlissencephaly micromelia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Ramos Arroyo syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Simpson-Golabi-Behmel syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Simpson Golabi Behmel syndrome type 2 |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Noonan syndrome-like disorder with loose anagen hair |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Pierre Robin sequence faciodigital anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Nasopalpebral lipoma coloboma syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Polyvalvular heart disease syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalic osteodysplastic dysplasia Saul Wilson type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Renier Gabreels Jasper syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Diprosopus tetrophthalmus |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Diprosopus |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Opodidymus |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Cephalodiprosopus |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Kleefstra syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Hypertelorism Teebi type |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Janiceps |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Crisponi syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Craniomicromelic syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Keutel syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Autosomal recessive faciodigitogenital syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability Buenos Aires type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Neurofaciodigitorenal syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Weaver Williams syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability Nascimento type |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Weaver Williams syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Cortical blindness, intellectual disability, polydactyly syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Cortical blindness, intellectual disability, polydactyly syndrome |
Finding site |
True |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Cyprus facial neuromusculoskeletal syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Epilepsy telangiectasia syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
6 |
| Dysmorphism, pectus carinatum, joint laxity syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
7 |
| Ichthyosis, oral and digital anomalies syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Hemifacial hyperplasia strabismus syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Finding site |
False |
Face structure |
Inferred relationship |
Existential restriction modifier |
3 |