| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Holmes Gang syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypertrichosis and acromegaloid facial appearance syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypomandibular faciocranial dysostosis |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Juberg Marsidi syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Puerto Rican infant hypotonia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Blepharonasofacial malformation syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Lymphedema, atrial septal defect, facial changes syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypertelorism with microtia and facial clefting syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Isotretinoin embryopathy-like syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Kapur Toriello syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Macrocephaly, short stature, paraplegia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Oculocerebrofacial syndrome Kaufman type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Okamoto syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Congenital hereditary facial paralysis with variable hearing loss syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Ectodermal dysplasia with blindness syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Osteosclerosis, developmental delay, craniosynostosis syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Overgrowth, macrocephaly, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe X-linked intellectual disability Gustavson type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Perlman syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Agnathia, holoprosencephaly, situs inversus syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Auriculoocular anomaly and cleft lip syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Thickened earlobe with conductive deafness syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Toriello Carey syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Faciocardiorenal syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microbrachycephaly, ptosis, cleft lip syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Ramos Arroyo syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Simpson-Golabi-Behmel syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalic osteodysplastic dysplasia Saul Wilson type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Simpson Golabi Behmel syndrome type 2 |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Polyvalvular heart disease syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Renier Gabreels Jasper syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Freeman-Sheldon syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Kleefstra syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypospadias, hypertelorism, coloboma, deafness syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability Buenos Aires type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Weaver Williams syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Cataract, congenital heart disease, neural tube defect syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability Nascimento type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Cleft lip retinopathy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Cyprus facial neuromusculoskeletal syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| German syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Dysmorphism, pectus carinatum, joint laxity syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hemifacial hyperplasia strabismus syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Pseudoprogeria syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Oculo-palato-digital syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Oculodento-osseous dysplasia |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Kabuki make-up syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Solitary median maxillary central incisor syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, cleft palate, loose skin syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Craniofaciofrontodigital syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Cerebrofacioarticular syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Velofacioskeletal syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Wiedemann Steiner syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| White forelock with malformations syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypotonia, speech impairment, severe cognitive delay syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability Wolff type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Macrocephaly and developmental delay syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Malan overgrowth syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Oculomaxillofacial dysostosis |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Neonatal Marfan syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Otofaciocervical syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| King Denborough syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalic primordial dwarfism Montreal type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Nijmegen breakage syndrome-like disorder |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Diencephalic mesencephalic junction dysplasia |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Tall stature, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalic primordial dwarfism Alazami type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Combined immunodeficiency with faciooculoskeletal anomalies syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Prader-Willi-like syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive chorioretinopathy and microcephaly syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalic primordial dwarfism Dauber type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 5p13 microduplication syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, seizures, macrocephaly, obesity syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
FHIR