Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Corrected transposition of great vessels |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hemianencephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Macromelia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dumbbell-shaped cartilaginous centrum of thoracic vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital tracheomalacia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectopic cilia of eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Periventricular nodular heterotopia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Aplasia of corpus callosum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spina bifida of sacral region (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sacral spina bifida without hydrocephalus - closed |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
11p partial monosomy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Chromosome 11p13 deletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Juvenile GM1 gangliosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Adult GM1 gangliosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Congenital cutaneous lymphangiectasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Aganglionosis of large intestine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pulmonary tuberous sclerosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Meningomyelocele of lumbosacral spine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Meningomyelocele of lumbosacral spine (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Congenital absence of body of uterus (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital respiratory biliary fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital respiratory biliary fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Trichorhinophalangeal syndrome type 1 and 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichorhinophalangeal syndrome type 1 and 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Posterior hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Generalized glucocorticoid resistance syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital arteriovenous malformation of duodenum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex with hypodontia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Eisenmenger ventricular septal defect (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mosaic trisomy 1 syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mosaic trisomy 1 syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Farber's lipogranulomatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital Fanconi syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Progressive deafness with stapes fixation (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hereditary camptodactyly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fabry's disease |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Melnick-Fraser syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Pulmonic stenosis and congenital nephrosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Senter syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Keratitis ichthyosis and deafness syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Keratitis ichthyosis and deafness syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Craniofacial deafness hand syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniofacial deafness hand syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Craniofacial deafness hand syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Emberger syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Myhre syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
6 |
X-linked non progressive cerebellar ataxia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pseudohypoparathyroidism type I A |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Beckwith-Wiedemann syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Fibrous skin tumor of tuberous sclerosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of skin on scalp |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Barber-Say syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Barber-Say syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Barber-Say syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Barber-Say syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Agenesis of bilateral lungs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Agenesis of bilateral lungs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital generalized hypertrichosis (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
MASA syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
MASA syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
MASA syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Microcephalus with albinism and digital anomaly syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
6 |
Aplasia cutis congenita of limb (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Basal encephalocele (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Basal encephalocele (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atresia of mitral valve with absent atrioventricular connection |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atresia of mitral valve with absent atrioventricular connection |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ablepharon of bilateral eyelids (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ablepharon of bilateral eyelids (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
46,XX disorder of sex development due to maternal androluteoma (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Jervell and Lange-Nielsen syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital parachute malformation of right atrioventricular valve (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital parachute malformation of right atrioventricular valve (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Constriction ring syndrome of lower limb with amputation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Constriction ring syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Blue sclera of bilateral eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Blue sclera of bilateral eyes |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Clinodactyly of bilateral toes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Clinodactyly of bilateral toes (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Bilateral coloboma of macula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral coloboma of macula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Bilateral coloboma of lens |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bilateral coloboma of lens |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Developmental anomaly of bilateral pleurae (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Developmental anomaly of bilateral pleurae (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |