| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Short stature Brussels type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| BSG syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Microcephalus cleft palate syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome de fibromatose gingivale-dysmorphie faciale |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| X-linked intellectual disability with plagiocephaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| microdélétion 8q22.1 |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Wilson Turner syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Van den Ende-Gupta syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Chromosome Xq28 trisomy (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Temtamy syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Anophthalmia plus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Arrhinia with choanal atresia and microphthalmia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Arthrogryposis multiplex congenita and whistling face syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cerebro-facio-thoracic dysplasia (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Craniofacial dyssynostosis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Craniosynostosis and intracranial calcification syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cerebrooculonasal syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Ehlers-Danlos syndrome musculocontractural type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Frank-Ter Haar syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Chudley Lowry Hoar syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Fine Lubinsky syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hall Riggs syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Short stature with webbed neck and congenital heart disease syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Short tarsus with absence of lower eyelashes syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Goldberg Shprintzen megacolon syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability, epilepsy, bulbous nose syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Holmes Gang syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome d'hypertrichose-faciès acromégaloïde |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hypomandibular faciocranial dysostosis (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Juberg Marsidi syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Puerto Rican infant hypotonia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Blepharonasofacial malformation syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Lymphedema, atrial septal defect, facial changes syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hypertelorism with microtia and facial clefting syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Isotretinoin embryopathy-like syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Kapur Toriello syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Macrocephaly, short stature, paraplegia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Oculocerebrofacial syndrome Kaufman type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Okamoto syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Ectodermal dysplasia with blindness syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Severe X-linked intellectual disability Gustavson type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Perlman syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Agnathia, holoprosencephaly, situs inversus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Auriculoocular anomaly and cleft lip syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Thickened earlobe with conductive deafness syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Toriello Carey syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Faciocardiorenal syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Microbrachycephaly, ptosis, cleft lip syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Ramos Arroyo syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Simpson Golabi Behmel syndrome type 2 (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome de la maladie cardiaque polyvalvulaire |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Renier Gabreels Jasper syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome de Freeman-Sheldon (trouble) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Kleefstra syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) |
est un(e) (attribut) |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability Buenos Aires type (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Weaver Williams syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cataract, congenital heart disease, neural tube defect syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| déficience intellectuelle liée à l'X type Nascimento |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cleft lip retinopathy syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Cyprus facial neuromusculoskeletal syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| syndrome de German |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Hemifacial hyperplasia strabismus syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
est un(e) (attribut) |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Some |
|
FHIR