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 |
|
Celoschisis |
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 |
|
déficit immunitaire combiné sévère dû à l'absence d'antigènes leucocytaires humains de classe II |
Occurrence |
False |
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 (disorder) |
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 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of larynx (disorder) |
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 |
Isolated xanthine oxidase deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
syndrome de Grönblad-Strandberg |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Vitamin D-dependent rickets, type 2 |
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 phenotype |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Accessory adrenal cortex |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mousepox |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of the urinary system |
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 |
maladie de Niemann-Pick type E |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Opocephalus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of germinal epithelium of testes (disorder) |
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< gangliosidosis |
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 |
|
Perinataler Ikterus verursacht durch Gallenpfropf-Syndrom |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Chronic tophaceous gout (disorder) |
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 |
|
Dextrokardie |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cerebellar hemangioblastomatosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. |
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 |
|