Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Anophthalmia plus syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Microcephaly with deafness and intellectual disability syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Okamoto syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
syndrome marfanoïde-déficience intellectuelle autosomique récessif |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Deafness and intellectual disability Martin Probst type syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Deafness craniofacial syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Acrocallosal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Noonan syndrome-like disorder with loose anagen hair (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Arteriovenous malformation of frontonasal process |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Juberg Hayward syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Oro-facial digital syndrome type 11 (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
5 |
Oro-facial digital syndrome type 8 (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
syndrome de la maladie cardiaque polyvalvulaire |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Joubert syndrome with orofaciodigital defect (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Cerebro-facio-thoracic dysplasia (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Frontofacionasal dysplasia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Ulna fibula ray defect and brachydactyly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
Smith Fineman Myers syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Hemifacial hyperplasia strabismus syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Acrocraniofacial dysostosis (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Acromegaloid facial appearance syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Craniosynostosis and intracranial calcification syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Short stature Brussels type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
syndrome de Jawad |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
3 |
syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
syndrome d'hypertrichose-faciès acromégaloïde |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
2 |
Perlman syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Chromosome Xq28 trisomy (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
X-linked intellectual disability with plagiocephaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Pyknoachondrogenesis (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Hadziselimovic syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Puerto Rican infant hypotonia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Carbuncle of face NOS |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with blindness syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Oculocerebrofacial syndrome Kaufman type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Renier Gabreels Jasper syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Autosomal recessive faciodigitogenital syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Acrofrontofacionasal dysostosis type 2 |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
FG syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Renal dysplasia with limb defect syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Bohring Opitz syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Epilepsy telangiectasia syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
4 |
15q overgrowth syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Isotretinoin embryopathy-like syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Van den Ende-Gupta syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
syndrome de fibromatose gingivale-dysmorphie faciale |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Craniomicromelic syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Neurofaciodigitorenal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Robinow-like syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
3 |
Severe X-linked intellectual disability Gustavson type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Lethal faciocardiomelic dysplasia (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Cyprus facial neuromusculoskeletal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Goldberg Shprintzen megacolon syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Short stature with webbed neck and congenital heart disease syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
1 |
Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Hypertelorism Teebi type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Filippi syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Cerebrooculonasal syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
SCARF syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
Oral-facial-digital syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Ehlers-Danlos syndrome musculocontractural type (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
3 |
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
camptodactylie de Tel Hashomer |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
face |
Inferred relationship |
Some |
4 |
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Camptodactyly syndrome Guadalajara type 1 (disorder) |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
2 |
BSG syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
syndrome de lipomes naso-palpébraux-colobome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
Biopsy of face and neck using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
face |
Inferred relationship |
Some |
1 |
Biopsy of face and neck using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
face |
Inferred relationship |
Some |
3 |
Ultrasonography of face and neck |
Procedure site - Direct (attribute) |
True |
face |
Inferred relationship |
Some |
1 |
Thakker Donnai syndrome |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |
dysplasie spondylo-épimétaphysaire type Geneviève |
localisation d'une constatation (attribut) |
True |
face |
Inferred relationship |
Some |
1 |