377794 group of disorders
98053 Rare genetic disease
|
|
183530 Rare genetic developmental defect during embryogenesis
|
139009 Developmental anomaly of metabolic origin
7
139027 Malformation syndrome with skin/mucosae involvement
5
139030 Rare developmental defect with connective tissue involvement
2
183506 Genetic central nervous system malformation
2
183533 Genetic multiple congenital anomalies/dysmorphic syndrome
4
183536 Genetic congenital limb malformation
2
183539 Genetic renal or urinary tract malformation
2
183542 Genetic cranial malformation
1
183545 Genetic digestive tract malformation
4
183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
2
183554 Genetic respiratory or mediastinal malformation
1
183557 Genetic developmental defect of the eye
4
183570 Genetic malformation syndrome with short stature
1
183573 Genetic overgrowth/obesity syndrome
2
183576 Genetic branchial arch or oral-acral syndrome
1
183580 Genetic malformation syndrome with odontal and/or periodontal component
183583 Genetic head and neck malformation
7
211240 Genetic vascular anomaly
5
271853 Genetic cardiac anomaly
325690 Genetic disorder of sex development
3
363245 Genetic progeroid syndrome
404584 Rare genetic bone development disorder
2
98196 Malformation syndrome with hamartosis
1