| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
|
| 2p13.2 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 11p15.4 microduplication syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 3q27.3 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Familial omphalocele syndrome with facial dysmorphism |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Kagami Ogata syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Pilotto syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Edinburgh malformation syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, short stature, hypertelorism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Teebi Shaltout syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 15q overgrowth syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Thakker Donnai syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Spondyloepimetaphyseal dysplasia Genevieve type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Xylosyltransferase 1 congenital disorder of glycosylation |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Mandibular hypoplasia, deafness, progeroid syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Roifman syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 9q31.1q31.3 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 13q12.3 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 14q24.1q24.3 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Craniofacial dysplasia osteopenia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Flat face, microstomia, ear anomaly syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Pitt Hopkins-like syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Progeroid and marfanoid aspect, lipodystrophy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Temple syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Blepharophimosis, intellectual disability syndrome, Verloes type |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Lethal polymalformative syndrome Boissel type |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Marfanoid habitus, inguinal hernia, advanced bone age syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe intellectual disability, progressive spastic diplegia syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Thin ribs, tubular bones, dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Macrocephaly, intellectual disability, autism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Stickler syndrome type 3 |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Ankyloblepharon filiforme adnatum with cleft palate syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Reunion Island Larsen-like syndrome |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Is a |
False |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Melnick-Needles syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Multiple congenital anomalies, hypotonia, seizures syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Aneurysm osteoarthritis syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 21q22.11q22.12 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Leprechaunism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Hennekam lymphangiectasia-lymphedema syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Ascher's syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Desbuquois syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Winchester syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Williams syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Fragile X syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Angelman syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Neu-Laxova syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Marshall-Smith syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Blepharophimosis, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Myhre syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Barber-Say syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Megalencephaly capillary malformation |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Antley-Bixler syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 14q32 deletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Crouzon syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Oculo-auriculo-vertebral spectrum |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalus co-occurrent with cervical spine fusion anomaly |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 16p11.2p12.2 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Combined deficiency of sialidase AND beta galactosidase |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Four X syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability hypotonic face syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| 2p15p16.1 microdeletion syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| N syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Multiple malformation syndrome with facial defects as major feature |
Inferred relationship |
Existential restriction modifier |
|
FHIR