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short limbs child terms #3793

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sbello opened this issue Jul 18, 2023 · 3 comments
Closed

short limbs child terms #3793

sbello opened this issue Jul 18, 2023 · 3 comments

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@sbello
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sbello commented Jul 18, 2023

consider adding child terms for 'short limbs'
HPO has many child terms of Limb undergrowth (HP:0009826) that could be applicable

annotations to short limbs mention
rhizomelic (2)
distal shortening
hindlimb only
forelimb only

@anna-anagnostop
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Review parent/child relation of micromelia MP:0008736 and short limbs MP:0000547

micromelia MP:0008736
CURRENT DEF: disproportionately short or small limbs
CURRENT SYN: nanomelia

Questions:

@anna-anagnostop
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anna-anagnostop commented Jul 23, 2023

Also from https://www.sciencedirect.com/topics/medicine-and-dentistry/micromelia

  • Rhizomelia is where the limb shortening affects the proximal bones more than the distal bones.

  • Mesomelia is where the shortening affects the distal limb bones most.

Alternative definitions for rhizomelia and mesomelia from https://link.springer.com/chapter/10.1007/978-3-642-54610-5_13
"The term rhizomelic pertains to the proximal portions of the limbs including shoulder and arm in the upper extremity and hip and thigh in the lower extremity. Rhizomelia is defined as either a disproportion of the length of the proximal limb usually shortening or deformity affecting the shoulder and arm or hip and thigh. The term mesomelic pertains to the middle portions of the limbs including forearm and leg. Mesomelia is defined as a condition in which the forearms and lower legs are abnormally short or deformed. "

@sbello sbello self-assigned this Aug 8, 2023
sbello added a commit that referenced this issue Aug 8, 2023
added proximal and distal terms
sbello added a commit that referenced this issue Aug 8, 2023
fixed duplicate definition
@sbello
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sbello commented Aug 8, 2023

added rhizomelic limb with rhizomelia as synonym since in some definitions rhizomelia is used more as a disease term to cover multiple phenotypes (MP:0014288)
added
decreased distal limb length MP:0014289

@sbello sbello closed this as completed in 2549429 Nov 14, 2023
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