Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Multiple congenital cardiac defects |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital sensorineural hearing loss |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cystic testicular dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Aortic orifice left side by side with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Reunion Island Larsen-like syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Inferior vena cava connecting to morphological left atrium |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Retroesophageal pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic orifice anterior left with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Stomach in central position |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic orifice posterior with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Developmental displacement of brachial plexus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic orifice anterior right with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic orifice right side by side with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intrahepatic gallbladder |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic orifice posterior left with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Aortic orifice anterior with respect to pulmonary orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Right-sided pulmonary arterial trunk |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Juxtaposed atrial appendage |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Malalignment of aortic sinus in relation to pulmonary sinus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Combined oxidative phosphorylation defect type 11 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mixed sclerosing bone dystrophy with extra-skeletal manifestation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fetal spina bifida |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Fetal spina bifida |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fetal hydrocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant spastic paraplegia type 13 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary hyperekplexia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, polydactyly, ear lobe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Syndactyly, polydactyly, ear lobe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Syndactyly, polydactyly, ear lobe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, polydactyly, ear lobe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Paternal uniparental disomy of chromosome X |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked spastic paraplegia type 16 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked spastic paraplegia type 16 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant spastic paraplegia type 38 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant spastic paraplegia type 38 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Conductive hearing loss, malformation of external ear syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Maternal uniparental disomy of chromosome X |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hirschsprung disease, ganglioneuroblastoma syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hirschsprung disease, ganglioneuroblastoma syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Heart defect, tongue hamartoma, polysyndactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital supravalvular mitral stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive brachyolmia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive brachyolmia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital abnormal number of ostium of coronary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Parachute malformation of tricuspid valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital absence of auricle with stenosis of auditory canal |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital absence of auricle with stenosis of auditory canal |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tracheoesophageal fistula without atresia of esophagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tracheoesophageal fistula without atresia of esophagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Platyspondylia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital aneurysm of precerebral artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive spastic paraplegia type 56 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital stenosis of pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital aneurysm of cerebral artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital bronchial stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital thoracostenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital supraglottic stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral multicystic renal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Spondylometaphyseal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multicystic renal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Otopalatodigital syndrome spectrum disorder |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital vascular anomaly of upper eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital vascular anomaly of lower eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |