Cerebral palsy - draft structure

[peupeubangbang]

HPO term Cerebral Palsy HP:0100021

Suggested revision and reasons Notes for suggested HPO CP structure...

• Add obligate frequency annotations for same CP HPO vs MONDO terms to account for phenotype/disease overlap?
• Introduce MONDO xrefs? (again for phenotype-disease overlap)
• Multiple parents for existing terms are a good way of introducing into the HPO CP branch
• Using HPO clinical modifier terms are a good way to avoid having introduce upper limb/lower limb HPO CP codes which is what SNOMED uses for its disorder terms (a bit overcoded imo)
• Avoid progressive terms
• Severity is currently difficult to code for HPO CP terms as relies on GMFCS I-V for motor function (plus MACS for ability + CFCS for communication)
• Onset prenatal vs neonatal vs post neonatal is important to differentiate between known cause of CP and probably useful for any links to gene/variant
• Can use HPO clinical modifier terms in laterality & spatial pattern (lower vs upper body predominance) branches for identifying limbs affected

Suggested structure

• Cerebral Palsy all terms immediately below to have link to this as parent (bullet point indents represent branch level)
  • Spastic CP new term (additional parent: Spasticity HP:0001257, new term suggested so we can separate spasticity that isn't CP)
    • Spastic CP bilateral new term OR rely on clinical modifier terms to avoid laterality in HPO terms
      • Spastic tetraplegia (quadriplegia)
      • Spastic triplegia
      • Spastic diplegia
        • additional parent: Cerebral palsy HP:0100021 (requested today)
    • Spastic CP unilateral new term OR rely on clinical modifier terms to avoid laterality in HPO terms
      • Spastic monoplegia new term suggested today
      • Spastic hemiparesis (hemiplegia)
  • Dyskinetic CP new term
    • Athetoid CP reclassify and suggest rename term to Choreoathetoid CP for aggregate form of athetosis + chorea
      • remove Dyskinetic CP as synonym to become new parent term in own right (as above)
      • suggest renaming to Choreoathetoid CP
      • additional parent: Choreoathetosis HP:0001266 which needs Athetosis HP:0002305 added as an additional parent (requested #7656)
    • Dystonic CP new term
      • additional parent: Dystonia HP:0001332
    • Chorea CP is not a suggested classification (despite making up Dyskinetic CP: athetosis/dystonia/chorea)
  • Ataxic CP new term
    • additional parent: Ataxia HP:0001251
  • Hypotonic CP new term - CONTROVERSIAL!!!
    • additional parents: Generalized hypotonia HP:0001290 + Spasticity HP:0001257
    • Isn't considered a CP type for some countries
    • Definition for CP is "generalised hypotonia with increased reflexes"
    • Lot of syndrome overlap
  • For mixed CP could code above HPOs in conjunction with...
    • Mixed CP MONDO disease term
      • Mixed CP is not a good term for HPO
      • Often dystonia + spasticity, ataxia + spasticity

[nicolevasilevsky]

@peupeubangbang thanks for this! Do you think we should model the Mondo hierarchy in the same way? We can also add xrefs in Mondo to HPO.

cc @sabrinatoro @jagcsun

Related to https://github.com/monarch-initiative/mondo/issues/4767

[peupeubangbang]

@nicolevasilevsky hi sorry it took me so long! Maybe hold off only because I am going to get some more feedback at the Australian CP Registers classification meeting in two weeks and will also look at HPO-MONDO overlap. I will update the draft structure with any suggested changes and also post feedback in MONDO CP branch issue - btw thanks for linking 😄

[nicolevasilevsky]

Sure, sounds good! Thanks again. :)

[peupeubangbang]

closing as HPO structure has improved. Request pending for NTR spastic monoplegia #7653