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 |