merge MONDO_0023097 'exostoses anetodermia brachydactyly type E'

[nicolevasilevsky]

there is a comment on this ticket to consider merge for MONDO_0023097 'exostoses anetodermia brachydactyly type E' but it doesn't say which term it should be merged with

[nicolevasilevsky]

@gardinfocenter

Do you think this is a distinct disease, or should it be merged with MONDO_0007211 'brachydactyly-arterial hypertension syndrome'

The definition is: Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

[nicolevasilevsky]

From GARD: I don’t think these two terms should merge into one (features are different and there is no apparent relationship among them – only the fact that they both have brachydactyly- which is not enough). Actually I retired 'exostoses anetodermia brachydactyly type E' which was described in only one family back in 1985.

[nicolevasilevsky]

action item:

• [x] obsolete MONDO_0023097 'exostoses anetodermia brachydactyly type E' (but don't add a 'term replaced by' annotation.) Add this ticket as seeAlso