DOID:0060289 ! Ohdo syndrome

[cmungall]

I think these are inverted:

 / DOID:4 ! disease
  is_a DOID:225 ! syndrome
   is_a DOID:0060289 ! Ohdo syndrome *** 
    is_a DOID:0060290 ! blepharophimosis-intellectual disability syndrome ***

Compare with Orphanet:

 / Orphanet:293642 ! Blepharophimosis-intellectual disability syndrome
  po Orphanet:1620 ! Distal monosomy 3p
  po Orphanet:2728 ! Blepharophimosis-intellectual disability syndrome, Ohdo type *** 
  po Orphanet:293707 ! Blepharophimosis-intellectual disability syndrome, MKB type
  po Orphanet:293725 ! Blepharophimosis-intellectual disability syndrome, Verloes type
  po Orphanet:3047 ! Blepharophimosis-intellectual disability syndrome, SBBYS type
  po Orphanet:329255 ! Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

[cmungall]

@sbello has this:

/ DC:0000138 ! Disease Cluster
  is_a DC:0000570 ! Ohdo Syndrome *** 
   is_a OMIM:249620 ! Ohdo Syndrome ***
   is_a OMIM:300895 ! Ohdo Syndrome, X-Linked
   is_a OMIM:603736 ! Ohdo Syndrome, Sbbys Variant

It seems like the original form observed has become the generic form

[elviram]

According to OMIM, Ohdo syndrome SBBYS variant (OMIM:603736 ) is a variant of Ohdo syndrome (OMIM:249620). OMIM:603736 is mapped to ORPHA:3047. Blepharophimosis-intellectual disability syndrome (DOID:0060290) is also mapped to ORPHA:3047. It was a case of the label being cut off, while the synonyms were in place. Fixed now. DOID:225 ! syndrome is_a DOID:0060289 ! Ohdo syndrome *\ is_a DOID:0060290 ! blepharophimosis-intellectual disability syndrome, SBBYS type