Experimental Factor Ontology
6213 terms(s) returned
| Term Type: | Record: 1 to 50 of 6213 Records | Page: 1 of 125, First Previous Next Last | Show Records Per Page |
- 10p11.21p12.31 microdeletion syndrome
- 14q22q23 microdeletion syndrome
- 15q11.2 microdeletion syndrome
- 15q13.3 microdeletion syndrome
- 15q24 microdeletion syndrome
- 16p13.3 microduplication syndrome
- 17p13.3 microduplication syndrome
- 17q11 microdeletion syndrome
- 17q12 microdeletion syndrome
- 17q12 microduplication syndrome
- 17q21.31 microdeletion syndrome
- 17q21.31 microduplication syndrome
- 19p13.13 microdeletion syndrome
- 19q13.11 microdeletion syndrome
- 1p36 deletion syndrome
- 1q21.1 microdeletion syndrome
- 1q21.1 microduplication syndrome
- 21q22.13q22.2 microdeletion syndrome
- 22q11.2 microduplication syndrome
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- 3-phosphoserine phosphatase deficiency
- 3C syndrome
- 3M syndrome
- 3q29 microdeletion syndrome
- 3q29 microduplication
- 46,XX disorder of sex development - anorectal anomalies
- 46,XX disorder of sex development - skeletal anomalies
- 46,XX gonadal dysgenesis
- 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
- 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
- 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
- 46,XY disorder of sex development due to cholesterol synthesis defect
- 46,XY disorder of sex development due to impaired androgen production
- 46,XY disorder of sex development due to isolated 17,20 lyase deficiency
- 46,XY disorder of sex development due to testicular steroidogenesis defect
- 46,XY disorder of sex development due to testosterone synthesis defect
- 46,XY disorder of sex development of gynecological interest
- 46,XY gonadal dysgenesis - motor and sensory neuropathy
- 4q21 microdeletion syndrome
- 5p13 microduplication syndrome
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- 8p23.1 microduplication syndrome
- 8q21.11 microdeletion syndrome
- ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
- ALG13-CDG
- Absence deformity of leg - cataract
- Absence of fingerprints - congenital milia
- Absent thumb - short stature - immunodeficiency
- Absent tibia - polydactyly
- Absent tibia - polydactyly - arachnoid cyst
