Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Deafness, enamel hypoplasia, nail defect syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Indeterminate ventricular outflow tract obstruction |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Branchiogenic deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tricho-oculodermovertebral syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ear, face and neck congenital anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
First and second branchial arch syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
H-type congenital tracheoesophageal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Myelocystocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Overriding right ventriculoarterial valve |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Melnick-Fraser syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dystrophic epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intracardiac location of anomalous pulmonary venous connection to right atrium |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Phakomatosis caesiomarmorata |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Phakomatosis caesiomarmorata |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Potter's facies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of trachea and bronchus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cobb's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Carpal-tarsal osteolysis with nephropathy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mirror polydactyly, vertebral segmentation and limb defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hypomyelinating neuropathy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metachondromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lack of ossification of clavicle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brachyrachia (short spine dysplasia) |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly with deafness and intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly with deafness and intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Upper moiety ureter of duplex kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lissencephaly syndrome Norman Roberts type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Syndactyly, telecanthus, anogenital and renal malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hypoplasia of ulna and intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ischio-vertebral syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebrooculonasal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital epulis of newborn |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Short rib-polydactyly syndrome, Majewski type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Deafness with malformation of ear and facial palsy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Schilbach Rott syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anteversion of femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Extensive aganglionosis Hirschsprung disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Extensive aganglionosis Hirschsprung disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Right ventricular outflow obstruction - localized |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Type III short rib polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysplastic ovary |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary benign intraepithelial dyskeratosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary benign intraepithelial dyskeratosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital torsion of ovary |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dysplasia with increased bone density |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dumbbell ossification of centrum of cervical vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Inferior vena cava connecting to coronary sinus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metatropic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metaphyseal chondrodysplasia, Jansen type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft hard and soft palate with left cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft hard and soft palate with left cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Poland anomaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Poland anomaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Foramen ovale valvar aneurysm |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital malformation of eye, ear and neck |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Posterior perimaxillary faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Posterior perimaxillary faciosynostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital emphysema |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Fissured spine |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ectopic pancreatic tissue in stomach |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopic pancreatic tissue in stomach |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dural carotid cavernous fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spinal arteriovenous malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Persistent urogenital sinus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Late-onset junctional epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Proximal penile hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Perlman syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Familial expansile osteolysis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Nasofrontal encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Lamellar ichthyosis (limited type) |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Okamoto syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Okamoto syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
True congenital varicose veins |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Exaggerated cingulum of tooth |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Preauricular dimple |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft palate with right cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Self-healing collodion baby |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Disorder of sex development with intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital stricture of retinal artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral acheiria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
On examination - hands - arachnodactyly |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tricho-dento-osseous syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Curly hair, ankyloblepharon, nail dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ehlers-Danlos syndrome with periventricular heterotopia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ehlers-Danlos syndrome with periventricular heterotopia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ehlers-Danlos syndrome with periventricular heterotopia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |