Bohring-Opitz syndrome
rare genetic syndrome caused by a mutation in the ASXL1 gene
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Bohring-Opitz syndrome
Summary
Bohring-Opitz syndrome is a developmental defect during embryogenesis[1]. It draws 35 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]
Key Facts
- Bohring-Opitz syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Bohring-Opitz syndrome's instance of is recorded as rare disease[4].
- Bohring-Opitz syndrome's instance of is recorded as class of disease[5].
- Bohring-Opitz syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[6].
- Bohring-Opitz syndrome is a type of genetic syndromic intellectual disability[7].
- Bohring-Opitz syndrome's NCI Thesaurus ID is recorded as C131533[8].
- Bohring-Opitz syndrome's health specialty is recorded as medical genetics[9].
- Bohring-Opitz syndrome's genetic association is recorded as ASXL1[10].
- Bohring-Opitz syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_97297[11].
Why It Matters
Bohring-Opitz syndrome draws 35 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]