Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hand-foot-genital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hand-foot-genital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Pachydermoperiostosis - familial |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Megacystis-megaureter syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Juxtaductal aortic coarctation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epidermolysis bullosa simplex |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypospadias, balanic |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital bilateral aplasia of vas deferens |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepimetaphyseal dysplasia Shohat type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ulna metaphyseal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osteoporosis and oculocutaneous hypopigmentation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Osteoporosis and oculocutaneous hypopigmentation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Osteoporosis and oculocutaneous hypopigmentation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysplasia epiphysealis hemimelica |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital coronary artery fistula to pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Weill-Marchesani syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Acrocephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hemimyelocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Situs inversus viscerum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Occipital encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Universal mesentery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bamforth Lazarus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Dominant epidermolysis bullosa simplex, Weber-Cockayne type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
11p partial monosomy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Pulmonary trunk absent with absent left pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysostosis multiplex |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Transient bullous dermolysis of newborn |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Spina bifida without hydrocephalus - closed |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Carney complex |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Carney complex |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital coronary artery fistula to right ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital coronary artery fistula to right ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Astley-Kendall dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fallopian tube and broad ligament anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fallopian tube and broad ligament anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Acropectoral syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Laminar heterotopia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pontocerebellar hypoplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brachyolmia - Maroteaux type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osteodysplastic primordial dwarfism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ecchordosis physaliphora |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Chondrodysplasia punctata, Conradi-Hünermann type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Dermo-odonto dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital heart defect with round face and developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital abnormality of thoracic aorta and pulmonary arteries |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Acephalorhachia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrioventricular septal defect and common atrioventricular junction |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Port-wine stain in proteus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Right superior vena cava connecting to coronary sinus and then to left sided atrium |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Right superior vena cava connecting to coronary sinus and then to left sided atrium |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Indeterminate atrial arrangement |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital elevation of scapula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperphosphatasemia with bone disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperphosphatasemia with bone disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Brain calcification Rajab type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Left ventricular outflow tract abnormality |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pulmonary venous confluence in vertical orientation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Johanson-Blizzard syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital discoid meniscus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniometaphyseal dysplasia - severe type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniometaphyseal dysplasia - severe type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Atrial septal defect with endocardial cushion defect, partial type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Postductal aortic stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Syndromic hypoplasia of orbital border |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fuhrmann syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of frontal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Adult onset autosomal recessive muscular dystrophy with normal dystrophin |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital corneal keloid |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Exstrophy of cloaca sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Exstrophy of cloaca sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Exstrophy of cloaca sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Exstrophy of cloaca sequence |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Recessive dystrophic epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Transposition of pulmonary veins |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Transposition of pulmonary veins |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital penile torsion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of bone and joint |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lipomeningocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Parkes Weber syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrichia with papular lesions |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |