Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Atrichia with papular lesions |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Arrhinia with choanal atresia and microphthalmia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Arrhinia with choanal atresia and microphthalmia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Occipital dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive popliteal pterygium syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive popliteal pterygium syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Shwachman syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital ectodermal dysplasia of face |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vici syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Vici syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vici syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Azygos lobe of lung |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Summitt syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Summitt syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pulmonary trunk absent with absent right pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Absence of fingerprints with congenital milia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Centripetalis recessive dystrophic epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Genochondromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Preductal aortic stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Overriding aorta |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hydrocephalus with obesity and hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital splenorenal shunt |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mammary digital nail syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Mammary digital nail syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Mammary digital nail syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pulmonary tuberous sclerosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Combined valvular-subvalvular pulmonic stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Trichorhinophalangeal dysplasia type III |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracoceloschisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Double inlet to ventricle of indeterminate morphology |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital genu valgum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive non-infectious anterior vertebral fusion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osteodysplastic primordial dwarfism, type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Alveolar capillary dysplasia with pulmonary venous misalignment |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Duplex kidney with reflux in one ureter |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of metatarsal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrioventricular septal defect - isolated ventricular component |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multicentric osteolysis nodulosis arthropathy spectrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Multicentric osteolysis nodulosis arthropathy spectrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Arteriovenous malformation of mandible |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Chiari malformation type III |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Displaced Meckel's diverticulum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital oculocutaneous hypopigmentation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Left ventricular outflow tract obstruction |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Sacral spina bifida with hydrocephalus - open |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cole-Carpenter dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe X-linked intellectual disability Gustavson type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Severe X-linked intellectual disability Gustavson type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Severe X-linked intellectual disability Gustavson type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Craniometaphyseal dysplasia - mild type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniometaphyseal dysplasia - mild type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Peutz-Jeghers polyps of small bowel |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital urethral syringocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Giant esophagus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cranio-cerebello-cardiac dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cranio-cerebello-cardiac dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Cranio-cerebello-cardiac dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Walker-Warburg congenital muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Radial polydactyly Wassel 1 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cryptotia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Koolen De Vries syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bronchial atresia with segmental pulmonary emphysema |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Bronchial atresia with segmental pulmonary emphysema |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Langer-Giedion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lethal retarded ossification syndromes |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Odonto-onychial dysplasia with alopecia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Lack of ossification of tympanic anulus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cardiomyopathy and renal anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Constriction ring of upper limb with acrosyndactyly and amputation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Triphalangeal thumb and dislocation of patella syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Splenogonadal fusion |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fistula of rectum and anus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fecal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dystrophic epidermolysis bullosa inverse type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Saethre-Chotzen syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Arterial dissection and lentiginosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
5-amino-4-imidazole carboxamide ribosiduria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thymic, renal, anal, lung dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy Paradas type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Postductal coarctation of aorta |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hydrolethalus syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Stenosis of infundibulum of right ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Stevenson type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Schinzel-Giedion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Charlie M syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Charlie M syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Charlie M syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Kohlschutter's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Kohlschutter's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Junctional epidermolysis bullosa mitis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Frank-Ter Haar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |