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New OMIM terms 26.05.2022 #4970

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matentzn opened this issue May 26, 2022 · 2 comments · Fixed by #4972
Closed

New OMIM terms 26.05.2022 #4970

matentzn opened this issue May 26, 2022 · 2 comments · Fixed by #4972
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June release

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OMIM

[Term]
id: MONDO:0024777
name: immunodeficiency 98 with autoinflammation, x-linked
synonym: "IMD98" RELATED  [OMIM:301078]
synonym: "immunodeficiency 98 with autoinflammation, X-linked" RELATED  [OMIM:301078]
synonym: "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by tlr8" RELATED  [OMIM:301078]
is_a: MONDO:0021094 {source="OMIM:301078"} ! immunodeficiency disease
xref: OMIM:301078 {source="MONDO:equivalentTo"} ! immunodeficiency 98 with autoinflammation, x-linked

[Term]
id: MONDO:0030619
name: retinitis pigmentosa 92
synonym: "retinitis pigmentosa 92" RELATED  [OMIM:619614]
synonym: "RP92" RELATED  [OMIM:619614]
is_a: MONDO:0019200 {source="OMIM:619614"} ! retinitis pigmentosa
xref: OMIM:619614 {source="MONDO:equivalentTo"} ! retinitis pigmentosa 92

[Term]
id: MONDO:0030785
name: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
synonym: "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" RELATED  [OMIM:619827]
synonym: "MRT75" RELATED  [OMIM:619827]
is_a: MONDO:0019502 {source="OMIM:619827"} ! autosomal recessive non-syndromic intellectual disability
xref: OMIM:619827 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

[Term]
id: MONDO:0030787
name: spermatogenic failure 71
synonym: "spermatogenic failure 71" RELATED  [OMIM:619831]
synonym: "SPGF71" RELATED  [OMIM:619831]
is_a: MONDO:0004983 {source="OMIM:619831"} ! spermatogenic failure
xref: OMIM:619831 {source="MONDO:equivalentTo"} ! spermatogenic failure 71

[Term]
id: MONDO:0030797
name: retinitis pigmentosa 93
synonym: "retinitis pigmentosa 93" RELATED  [OMIM:619845]
synonym: "RP93" RELATED  [OMIM:619845]
is_a: MONDO:0019200 {source="OMIM:619845"} ! retinitis pigmentosa
xref: OMIM:619845 {source="MONDO:equivalentTo"} ! retinitis pigmentosa 93

[Term]
id: MONDO:0030798
name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
synonym: "IMD99" RELATED  [OMIM:619846]
synonym: "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" RELATED  [OMIM:619846]
is_a: MONDO:0021094 {source="OMIM:619846"} ! immunodeficiency disease
xref: OMIM:619846 {source="MONDO:equivalentTo"} ! immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

[Term]
id: MONDO:0030800
name: cholestasis, progressive familial intrahepatic, 9
synonym: "cholestasis, progressive familial intrahepatic, 9" RELATED  [OMIM:619849]
synonym: "PFIC9" RELATED  [OMIM:619849]
is_a: MONDO:0015762 {source="OMIM:619849"} ! progressive familial intrahepatic cholestasis
xref: OMIM:619849 {source="MONDO:equivalentTo"} ! cholestasis, progressive familial intrahepatic, 9

[Term]
id: MONDO:0030809
name: spermatogenic failure 72
synonym: "spermatogenic failure 72" RELATED  [OMIM:619867]
synonym: "SPGF72" RELATED  [OMIM:619867]
is_a: MONDO:0004983 {source="OMIM:619867"} ! spermatogenic failure
xref: OMIM:619867 {source="MONDO:equivalentTo"} ! spermatogenic failure 72

[Term]
id: MONDO:0030810
name: cholestasis, progressive familial intrahepatic, 10
synonym: "cholestasis, progressive familial intrahepatic, 10" RELATED  [OMIM:619868]
synonym: "PFIC10" RELATED  [OMIM:619868]
is_a: MONDO:0015762 {source="OMIM:619868"} ! progressive familial intrahepatic cholestasis
xref: OMIM:619868 {source="MONDO:equivalentTo"} ! cholestasis, progressive familial intrahepatic, 10

[Term]
id: MONDO:0030813
name: immunodeficiency 101 (varicella zoster virus-specific)
synonym: "IMD101" RELATED  [OMIM:619872]
synonym: "immunodeficiency 101 (varicella zoster virus-specific)" RELATED  [OMIM:619872]
is_a: MONDO:0021094 {source="OMIM:619872"} ! immunodeficiency disease
xref: OMIM:619872 {source="MONDO:equivalentTo"} ! immunodeficiency 101 (varicella zoster virus-specific)

[Term]
id: MONDO:0030815
name: cholestasis, progressive familial intrahepatic, 11
synonym: "cholestasis, progressive familial intrahepatic, 11" RELATED  [OMIM:619874]
synonym: "PFIC11" RELATED  [OMIM:619874]
is_a: MONDO:0015762 {source="OMIM:619874"} ! progressive familial intrahepatic cholestasis
xref: OMIM:619874 {source="MONDO:equivalentTo"} ! cholestasis, progressive familial intrahepatic, 11

[Term]
id: MONDO:0030818
name: spermatogenic failure 73
synonym: "spermatogenic failure 73" RELATED  [OMIM:619878]
synonym: "SPGF73" RELATED  [OMIM:619878]
is_a: MONDO:0004983 {source="OMIM:619878"} ! spermatogenic failure
xref: OMIM:619878 {source="MONDO:equivalentTo"} ! spermatogenic failure 73

[Term]
id: MONDO:0030819
name: meckel syndrome 14
synonym: "meckel syndrome 14" RELATED  [OMIM:619879]
synonym: "MKS14" RELATED  [OMIM:619879]
is_a: MONDO:0018921 {source="OMIM:619879"} ! Meckel syndrome
xref: OMIM:619879 {source="MONDO:equivalentTo"} ! meckel syndrome 14

[Term]
id: MONDO:0030822
name: renal hypodysplasia/aplasia 4
synonym: "renal hypodysplasia/aplasia 4" RELATED  [OMIM:619887]
synonym: "RHDA4" RELATED  [OMIM:619887]
is_a: MONDO:0018470 {source="OMIM:619887"} ! renal agenesis
xref: OMIM:619887 {source="MONDO:equivalentTo"} ! renal hypodysplasia/aplasia 4

OMIMPS:

xref:  {source="MONDO:equivalentTo"} ! 

[Term]
id: MONDO:0031298
name: restrictive dermopathy
xref: OMIMPS:275210 {source="MONDO:equivalentTo"} ! restrictive dermopathy

[Term]
id: MONDO:0031365
name: stuve-wiedemann syndrome
xref: OMIMPS:601559 {source="MONDO:equivalentTo"} ! stuve-wiedemann syndrome

[Term]
id: MONDO:0031432
name: thyroid hormone metabolism, abnormal
xref: OMIMPS:609698 {source="MONDO:equivalentTo"} ! thyroid hormone metabolism, abnormal

[Term]
id: MONDO:0031447
name: macrothrombocytopenia, isolated
xref: OMIMPS:613112 {source="MONDO:equivalentTo"} ! macrothrombocytopenia, isolated

[Term]
id: MONDO:0031466
name: congenital disorder of deglycosylation
xref: OMIMPS:615273 {source="MONDO:equivalentTo"} ! congenital disorder of deglycosylation

[Term]
id: MONDO:0031474
name: autoinflammatory syndrome, familial, behcet-like
xref: OMIMPS:616744 {source="MONDO:equivalentTo"} ! autoinflammatory syndrome, familial, behcet-like

We are taking suggestions now how to improve the output so you can fold these new terms in quicker. Let me know if you see anything (better synonym processing, etc).
@nicolevasilevsky
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These are already on my radar and need to be split, see: #4864

OMIMPS:

xref:  {source="MONDO:equivalentTo"} ! 

[Term]
id: MONDO:0031298
name: restrictive dermopathy
xref: OMIMPS:275210 {source="MONDO:equivalentTo"} ! restrictive dermopathy

[Term]
id: MONDO:0031365
name: stuve-wiedemann syndrome
xref: OMIMPS:601559 {source="MONDO:equivalentTo"} ! stuve-wiedemann syndrome

[Term]
id: MONDO:0031466
name: congenital disorder of deglycosylation
xref: OMIMPS:615273 {source="MONDO:equivalentTo"} ! congenital disorder of deglycosylation

[Term]
id: MONDO:0031474
name: autoinflammatory syndrome, familial, behcet-like
xref: OMIMPS:616744 {source="MONDO:equivalentTo"} ! autoinflammatory syndrome, familial, behcet-like

@nicolevasilevsky nicolevasilevsky added this to the June release milestone May 26, 2022
@nicolevasilevsky
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We are taking suggestions now how to improve the output so you can fold these new terms in quicker. Let me know if you see anything (better synonym processing, etc).

  • x-linked should be X-linked (I think almost always)
  • synonyms should be exact, unless they are INCLUDED entries in OMIM
  • abbreviations should have the ABBREVIATION tag

thank you! :)

@nicolevasilevsky nicolevasilevsky mentioned this issue May 26, 2022
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nicolevasilevsky added a commit that referenced this issue May 26, 2022
@nicolevasilevsky
add new OMIM terms (OMIM slurp)
14e7e0a 
close #4970
@nicolevasilevsky nicolevasilevsky mentioned this issue May 26, 2022
Merged
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add new OMIM terms (OMIM slurp) monarch-initiative/mondo
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@nicolevasilevsky @matentzn