| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Osteogenesis imperfecta, dominant perinatal lethal |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Absent finger |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Dipygus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| gastroschis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Macrodontia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital supravalvular aortic stenosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Maple syrup urine disease, multiple dehydrogenase form |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Complete trisomy 22 syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Accessory liver |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Lysinuric protein intolerance, type 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| X-linked hydrocephalus syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Anophthalmos |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital contracted pelvis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital anomaly of broad ligament |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital aplasia of inner ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Aase syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Tuberous sclerosis syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Abnormal fetal duplication |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital deformity of nose |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Long narrow head |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Postductal coarctation of aorta |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital hypoplasia of cardiac vein |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Inborn error of glutathione metabolism |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anomaly of larynx |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bicuspid aortic valve |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of diaphragm |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Bilateral left-sidedness sequence |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Niemann-Pick disease, type C, chronic form |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| X-linked ichthyosis with steryl-sulfatase deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Cervical rib |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hydroxymethylglutaryl-CoA lyase deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mucopolysaccharidosis, MPS-IV-A |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Uterus bicornis bicollis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Glycogen storage disease, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| isolerad brist på xantinoxidas |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Gronblad-Strandberg syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Vitamin D-dependent rickets, type 2 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital prognathism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Megaloappendix |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Moore-Federman syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Short rib-polydactyly syndrome, Majewski type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital cystic disease of liver |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Kynureninase deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital anomaly of epiglottis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Gastroschisis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Polyploidy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Thoracogenic scoliosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| 10q partial trisomy syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Coarctation of aorta |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mucopolysaccharidosis, MPS-I-S |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hunter's syndrome, severe form |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Pena-Shokeir-fenotyp |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Accessory adrenal cortex |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mousepox |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| medfödd missbildning i urinvägar |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Marshall-Smith syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of parathyroid gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hemimyelia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| Niemann-Picks sjukdom, typ E |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Opocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of germinal epithelium of testes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Adolescent postural kyphosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital anomaly of musculoskeletal system |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital subaortic stenosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Disorder of central nervous system due to xeroderma pigmentosum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Double outlet left ventricle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Common arterial trunk and common origin of pulmonary arteries (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital cutaneous angiomatosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Cobalamin A disease |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| adult GM>1<gangliosidos |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Cutis laxa with osteodystrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Metabolic disease of collagen |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Perinatal jaundice due to inspissated bile syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Chronic tophaceous gout |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital toxoplasmosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital malposition of digestive organs |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| 5p partial trisomy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital anomaly of pituitary gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| isolerad dextrokardi |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Cerebellar hemangioblastomatosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Progressive intrahepatic cholestasis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Partial tetrasomy of chromosome 9 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Coronary artery arising from main pulmonary artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital scar |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of fibula |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hereditary coproporphyria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Female infertility due to structural congenital anomaly of cervix |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Opodidymus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Woolf's syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital chromosomal disease |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Complete trisomy 9 syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Micromelia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital atresia of aorta |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| manus flexa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| XX males |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Craniopagus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Kommerell's diverticulum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Diplopodia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Crossed renal ectopia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|