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 4 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's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[6].
- Bohring-Opitz syndrome's subclass of is recorded as genetic syndromic intellectual disability[7].
- Bohring-Opitz syndrome's MeSH descriptor ID is recorded as C537419[8].
- Bohring-Opitz syndrome's OMIM ID is recorded as 605039[9].
- Bohring-Opitz syndrome's ICD-10 ID is recorded as Q87.8[10].
- Bohring-Opitz syndrome's KEGG ID is recorded as H02047[11].
- Bohring-Opitz syndrome's Orphanet ID is recorded as 97297[12].
- Bohring-Opitz syndrome's NCI Thesaurus ID is recorded as C131533[13].
- Bohring-Opitz syndrome's health specialty is recorded as medical genetics[14].
- Bohring-Opitz syndrome's genetic association is recorded as ASXL1[15].
- Bohring-Opitz syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_97297[16].
- Bohring-Opitz syndrome's UMLS CUI is recorded as C0796232[17].
- Bohring-Opitz syndrome's ICD-10-CM is recorded as Q87.8[18].
- Bohring-Opitz syndrome's PatientsLikeMe condition ID is recorded as bohring-opitz-syndrome[19].
- Bohring-Opitz syndrome's GARD rare disease ID is recorded as 10140[20].
- Bohring-Opitz syndrome's Mondo ID is recorded as MONDO_0011510[21].
- Bohring-Opitz syndrome's Microsoft Academic ID is recorded as 2779574721[22].
- Bohring-Opitz syndrome's UniProt disease ID is recorded as DI-01304[23].
Why It Matters
Bohring-Opitz syndrome draws 4 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]