| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| syndrome de Jawad |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Zechi Ceide syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Emery Nelson syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Arthrogryposis and ectodermal dysplasia syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Femoral hypoplasia - unusual facies syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrofrontofacionasal dysostosis type 2 |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniofacial deafness hand syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Camptodactyly syndrome Guadalajara type 3 (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Eye defects, arachnodactyly, cardiopathy syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| 20q11.2 microdeletion syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de Coffin-Lowry |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trichorhinophalangeal syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Townes syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de Ruvalcaba (trouble) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de Nager (trouble) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Oculodentodigital syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ectrodactyly-ectodermal dysplasia-clefting syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de Mietens (trouble) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome oto-palato-digital type 2 (trouble) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Roberts-SC phocomelia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| FG syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Oral-facial-digital syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Hay-Wells syndrome of ectodermal dysplasia (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Larsen syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Miller syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Stickler syndrome |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Shprintzen syndrome |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ophthalmomandibulomelic dysplasia (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Autosomal recessive distal osteolysis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrocallosal syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Seaver Cassidy syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pseudoaminopterin syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Steinfeld syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| spectre ostéolyse multicentrique-nodulose-arthropathie |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trisomy 10p (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Hydrocephalus with cleft palate and joint contracture syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability Stevenson type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Carpenter Waziri syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Smith Fineman Myers syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pyknoachondrogenesis (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Pelviscapular dysplasia |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephalus with albinism and digital anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Hadziselimovic syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Lethal faciocardiomelic dysplasia (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| X-linked mandibulofacial dysostosis (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Renal dysplasia with limb defect syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Ulna fibula ray defect and brachydactyly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| camptodactylie de Tel Hashomer |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Trigonocephaly with broad thumb syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrofrontofacionasal dysostosis (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome acrootooculaire |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrorenal mandibular syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrocephalopolydactyly (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrocraniofacial dysostosis (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acromegaloid facial appearance syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Camptodactyly syndrome Guadalajara type 1 (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrofacial dysostosis Catania type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrofacial dysostosis Kennedy Teebi type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Acrofacial dysostosis Palagonia type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| dysostose acrofaciale type Rodríguez |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Bohring Opitz syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniofacial conodysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis Boston type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Filippi syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Oromandibular-limb hypogenesis spectrum |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Juberg Hayward syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial-limb defects as major feature |
Inferred relationship |
Some |
|
FHIR