Mondo term (ID and Label)
Branch under MONDO:0700282 POLR3-related leukodystrophy
(follow up to issue #8101 )
I do not think the current structure accurately reflects the sources, but I am not an expert so I am open to alternative suggestions, but given the various names/synonyms/genetic or molecular associations, I think this needs a revisit. I have tried to clarify my thought process below, but please let me know if anything is not clear.
Suggested revision and reasons
(action items for specific Mondo terms below) Note that more '+' means it is a child of the term immediately above with fewer +
POLR-related leukodystrophy (4H leukodystrophy) (NTR)
+POLR3-related leukodystrophy (Mondo:0700282 )
++Hypomyelinating leukodystrophy 21 (HLD21) Mondo: 0030263 ; OMIM 619310 , UMLS C5543334 (gene: POLR3K)
++Hypomyelinating leukodystrophy 11 ( MONDO:0014666; OMIM 616494; UMLS 4225305; Associated gene POLR1C, which may warrant a note that this acts in both POL1 and POL3 complexes, source OMIM gene page https://www.omim.org/entry/610060 )
++Hypomyelinating leukodystrophy 8 with or without oligodontia and or hypogonadotropic hypogonadism (MONDO:0013722; OMIM 614381; UMLS C3280644; Associated gene in POLR3B)
++NEW TERM REQUEST: "LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM" 607694 (HLD7, POLR3A associated gene)
+++Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome ORDO- 137639
(Ordo is narrower than OMIM 607694)- (Mondo Xref currently is Mondo:0011897 )
+++Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORDO- 447893 (Mondo:0018655; C5681201) (Ordo is narrower than OMIM 607694)
+++Odontoleukodystrophy ORPHA- 77295 ( Mondo:0019177; C3502054) (Ordo is narrower than OMIM 607694)
+++Tremor-ataxia-central hypomyelination syndrome Orpha- 447896 (Mondo:0018656; C5680067) (Ordo is narrower than OMIM 607694)
+Leukodystrophy, hypomyelinating 27 (HLD27, OMIM:620675; Mondo:0958018; Associated with POLR1A mutation)
Action item details
[ ] Split Mondo:0700282 to POLR-related (NTR, for Orpha289494) and POLR3-related (Mondo: 0700282 with Orpha 88637)
[ ] Split Mondo:0011897 to create NT for HLD7 (OMIM 607694, NTR) vs. OrphaNet 137639 (Orpha says their record is narrower than the OMIM term)
[ ] restructure hierarchy as shown above. POLR-related LD NTR as (grand) parent; then POLR3 as a group of terms; HLD27 (asso with POLR1A) is separate direct child of POLR-related.
@kanems : Megan to do (not a Mondo team issue) : Follow up with UMLS regarding split of C2676243 since OMIM 607694 is not an exact match to Orpha88637 .
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sabrinatoro
commented
13 hours ago
Mondo term (ID and Label) Branch under MONDO:0700282 POLR3-related leukodystrophy (follow up to issue #8101 )
I do not think the current structure accurately reflects the sources, but I am not an expert so I am open to alternative suggestions, but given the various names/synonyms/genetic or molecular associations, I think this needs a revisit. I have tried to clarify my thought process below, but please let me know if anything is not clear.
Suggested revision and reasons (action items for specific Mondo terms below) Note that more '+' means it is a child of the term immediately above with fewer +
POLR-related leukodystrophy (4H leukodystrophy) (NTR) +POLR3-related leukodystrophy (Mondo:0700282 ) ++Hypomyelinating leukodystrophy 21 (HLD21) Mondo: 0030263 ; OMIM 619310 , UMLS C5543334 (gene: POLR3K) ++Hypomyelinating leukodystrophy 11 ( MONDO:0014666; OMIM 616494; UMLS 4225305; Associated gene POLR1C, which may warrant a note that this acts in both POL1 and POL3 complexes, source OMIM gene page https://www.omim.org/entry/610060 ) ++Hypomyelinating leukodystrophy 8 with or without oligodontia and or hypogonadotropic hypogonadism (MONDO:0013722; OMIM 614381; UMLS C3280644; Associated gene in POLR3B) ++NEW TERM REQUEST: "LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM" 607694 (HLD7, POLR3A associated gene) +++Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome ORDO- 137639 (Ordo is narrower than OMIM 607694)- (Mondo Xref currently is Mondo:0011897 ) +++Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome ORDO- 447893 (Mondo:0018655; C5681201) (Ordo is narrower than OMIM 607694) +++Odontoleukodystrophy ORPHA- 77295 ( Mondo:0019177; C3502054) (Ordo is narrower than OMIM 607694) +++Tremor-ataxia-central hypomyelination syndrome Orpha- 447896 (Mondo:0018656; C5680067) (Ordo is narrower than OMIM 607694) +Leukodystrophy, hypomyelinating 27 (HLD27, OMIM:620675; Mondo:0958018; Associated with POLR1A mutation)
Action item details [ ] Split Mondo:0700282 to POLR-related (NTR, for Orpha289494) and POLR3-related (Mondo: 0700282 with Orpha 88637) [ ] Split Mondo:0011897 to create NT for HLD7 (OMIM 607694, NTR) vs. OrphaNet 137639 (Orpha says their record is narrower than the OMIM term) [ ] restructure hierarchy as shown above. POLR-related LD NTR as (grand) parent; then POLR3 as a group of terms; HLD27 (asso with POLR1A) is separate direct child of POLR-related. @kanems : Megan to do (not a Mondo team issue) : Follow up with UMLS regarding split of C2676243 since OMIM 607694 is not an exact match to Orpha88637 .
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