Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Irido-corneal dysgenesis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple malformation syndrome with facial defects as major feature |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital spinal meningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ectopic spleen |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Deventer's pelvis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Accessory thyroid gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of parathyroid glands |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Imidazole aminoaciduria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-I-H |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectopic pituitary tissue |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Adrenoleukodystrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sitosterolemia with xanthomatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Nasal encephalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Primary hyperoxaluria, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Mannosidosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Amino acid deficiency anemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Buphthalmos with megalocornea |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
High assimilation pelvis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of cerebrovascular system |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
déformation en hyperextension du genou |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of vulva |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Reniform pelvis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pseudo-Hurler polydystrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
APRT deficiency, Japanese type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
X-linked agammaglobulinemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Imperforate hymen |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Bayonet hair |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cleidocranial dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal aminopterin syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital fold of posterior segment of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Persistent hyperlysinemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Miller syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital hyperplasia of muscle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Regional odontodysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Longitudinal deficiency of lower limb |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
épiphysite syphilitique congénitale |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital fusion of ribs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hyperplasia of pancreatic islet beta cell |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of toe |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetal trimethadione syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vascular ring of aorta (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Craniopagus parietalis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of lung |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital cortical cataract |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of upper limb |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Deficiency of cerebroside-sulfatase |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital cervicoaural fistula |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Triploidy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anadidymus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cystathioninemia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mesotaurodontism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Niemann-Pick disease, type C |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Acrodysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Popliteal pterygium syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of alimentary tract |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous pulmonary venous drainage to superior vena cava |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital duplication of esophagus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of patella |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Glycogen storage disease type III |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cleft palate with cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
18q partial trisomy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital lobar emphysema |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pyloric antral atresia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vitamin D-dependent rickets, type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
X-linked Ehlers-Danlos syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ectopic pancreas in duodenum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sirenoform monster |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital stenosis of pulmonary valve |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anterior open bite |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cerebral-retinal arteriovenous aneurysm (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Erythropoietic porphyria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Longitudinal deficiency of limb |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cytochrome-c oxidase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Shell teeth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Umbilical hernia with gangrene |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ichthyosis hystrix |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Spina bifida |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Pretibial epidermolysis bullosa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Port-wine stain of skin |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Tongue tie |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pili torti-deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Aminomethyltransferase deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Maroteaux-Lamy syndrome, mild form (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Niemann-Pick disease, type C, subacute form |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital obstruction of aqueduct of Sylvius |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Dwarf pelvis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Lhermitte-Duclos disease |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of membranous labyrinth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of cartilage |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Crigler-Najjar syndrome, type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Anomalous origin of pulmonary artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital hypoplasia of bile duct |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Partial anomalous pulmonary venous connection |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Talipes equinovalgus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vitamin D-dependent rickets |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Accessory adrenal gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital hemivertebra |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Sphingolipid activator protein 1 deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|