| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| iridokorneal dysgenesi |
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 |
|
| aminosyrabristanemi |
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 |
|
| hyperextensionsdeformitet av knä |
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 |
|
| medfödd syfilitisk epifysit |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital disease (disorder) |
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 |
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 (disorder) |
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 |
|
| missbildat foster med sirenomyeli |
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 (disorder) |
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 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Niemann-Pick disease, type C, subacute form (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital obstruction of aqueduct of Sylvius |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Dwarf pelvis |
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 |
|