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  1. NIF
  2. NIF-11609

many merging classes are missing from DO

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    • NIF
    • Issues closed as MONARCH has transitioned from UCSD services

    Description

      as i've been looking through our uberdisease ontology, i've found some issues.

      many of the classes in the merged.obo are missing seemingly pedantic grouping classes.

      for example,

      id: OMIM:614480
      name: Hypertriglyceridemia, Transient Infantile
      is_a: DOID:630 ! genetic disease

      id: OMIM:145750
      name: familial hypertriglyceridemia
      def: "A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency." [url:http://en.wikipedia.org/wiki/Familial_hypertriglyceridemia]
      comment: OMIM mapping confirmed by DO. [SN].
      synonym: "Pure hyperglyceridemia" EXACT []
      xref: DOID:0050527
      is_a: DOID:3146 ! lipid metabolism disorder
      is_a: DOID:630 ! genetic disease

      are not related to one another except for both being genetic diseases. why isn't the former also a lipid metabolism disorder? or even better, why aren't they both classified as "hypertriglyceridemia"? that seems like a natural grouping class.

      another

      id: OMIM:606170
      name: Genitopatellar Syndrome
      is_a: DOID:630 ! genetic disease

      in the text there is the description, "The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features."

      but it is also not classified:
      [Term]
      id: OMIM:603736
      name: Ohdo Syndrome, Sbbys Variant
      is_a: DOID:630 ! genetic disease

      so i'd think they would be grouped together in some way.

      when i just browse the ontology in protege, if you look under "genetic disease" there are many things that are siblings, but have nearly identical names, suggesting they should be subclasses of a more general disease, but are instead just a big fat flat list. some examples pulled only from A:

      Acyl-coa Dehydrogenase * Deficiency Of
      Adams-oliver Syndrome
      Adrenal Hyperplasia, Congenital
      Arthrogryposis * (only 3 of the 6 are classified as subtypes)
      Atrial Fibrillation (only 4 of 8 are classified as subtypes)
      Atrial Septal Defect (only 4 of 8 are classified as subtypes) ...
      in fact, 2257 of the omim diseases in the merged file can't be classified into any upper-level grouping class at all except for a plain "genetic disease", which isn't too helpful.

      (copied from https://github.com/monarch-initiative/disease-miner/issues/8)

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              sessaid Shahim Essaid
              nlw Nicole Washington
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