OMIM import September 2021 (old pipeline)

[matentzn]

Remember that without @joeflack4 new and shiny great pipeline, you will still have to manually process the synonyms.

Phenotypic series

[Term]
id: MONDO:0023801
name: facioscapulohumeral muscular dystrophy
xref: OMIMPS:158900 {source="MONDO:equivalentTo"} ! facioscapulohumeral muscular dystrophy

[Term]
id: MONDO:0023880
name: whim syndrome
xref: OMIMPS:193670 {source="MONDO:equivalentTo"} ! whim syndrome

[Term]
id: MONDO:0023893
name: anencephaly
xref: OMIMPS:206500 {source="MONDO:equivalentTo"} ! anencephaly

[Term]
id: MONDO:0023910
name: martsolf syndrome
xref: OMIMPS:212720 {source="MONDO:equivalentTo"} ! martsolf syndrome

[Term]
id: MONDO:0023961
name: visceral neuropathy, familial
xref: OMIMPS:243180 {source="MONDO:equivalentTo"} ! visceral neuropathy, familial

[Term]
id: MONDO:0024084
name: polyposis syndrome, hereditary mixed
xref: OMIMPS:601228 {source="MONDO:equivalentTo"} ! polyposis syndrome, hereditary mixed

[Term]
id: MONDO:0024160
name: spastic quadriplegic cerebral palsy
xref: OMIMPS:612900 {source="MONDO:equivalentTo"} ! spastic quadriplegic cerebral palsy

[Term]
id: MONDO:0024189
name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
xref: OMIMPS:616263 {source="MONDO:equivalentTo"} ! neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

[Term]
id: MONDO:0024193
name: portal hypertension, noncirrhotic
xref: OMIMPS:617068 {source="MONDO:equivalentTo"} ! portal hypertension, noncirrhotic

Other terms

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

[Term]
id: MONDO:0023655
name: immunodeficiency 14b, autosomal recessive
synonym: "IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B" RELATED  [OMIM:619281]
is_a: MONDO:0021094 {source="OMIM:619281"} ! immunodeficiency disease
xref: OMIM:619281 {source="MONDO:equivalentTo"} ! immunodeficiency 14b, autosomal recessive

[Term]
id: MONDO:0023657
name: intellectual developmental disorder, autosomal dominant 65
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65" RELATED  [OMIM:619320]
synonym: "Mental Retardation, Autosomal Dominant 65" RELATED  [OMIM:619320]
xref: Orphanet:528084 {source="OMIM:619320"}
is_a: MONDO:0100172 {source="OMIM:619320"} ! intellectual disability, autosomal dominant
xref: OMIM:619320 {source="MONDO:equivalentTo"} ! intellectual developmental disorder, autosomal dominant 65

[Term]
id: MONDO:0023659
name: developmental and epileptic encephalopathy 96
synonym: "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96" RELATED  [OMIM:619340]
xref: Orphanet:1934 {source="OMIM:619340"}
is_a: MONDO:0100062 {source="OMIM:619340"} ! developmental and epileptic encephalopathy
xref: OMIM:619340 {source="MONDO:equivalentTo"} ! developmental and epileptic encephalopathy 96

[Term]
id: MONDO:0023660
name: angioedema, hereditary, 6
synonym: "ANGIOEDEMA, HEREDITARY, 6; HAE6" RELATED  [OMIM:619363]
is_a: MONDO:0019623 {source="OMIM:619363"} ! hereditary angioedema
xref: OMIM:619363 {source="MONDO:equivalentTo"} ! angioedema, hereditary, 6

[Term]
id: MONDO:0023662
name: lymphatic malformation 10
synonym: "LYMPHATIC MALFORMATION 10; LMPHM10" RELATED  [OMIM:619369]
is_a: MONDO:0019313 {source="OMIM:619369"} ! hereditary lymphedema
xref: OMIM:619369 {source="MONDO:equivalentTo"} ! lymphatic malformation 10

[Term]
id: MONDO:0023664
name: spermatogenic failure 54
synonym: "SPERMATOGENIC FAILURE 54; SPGF54" RELATED  [OMIM:619379]
is_a: MONDO:0004983 {source="OMIM:619379"} ! azoospermia
xref: OMIM:619379 {source="MONDO:equivalentTo"} ! spermatogenic failure 54

[Term]
id: MONDO:0023670
name: bardet-biedl syndrome 20
synonym: "BARDET-BIEDL SYNDROME 20; BBS20" RELATED  [OMIM:619471]
is_a: MONDO:0015229 {source="OMIM:619471"} ! Bardet-Biedl syndrome
xref: OMIM:619471 {source="MONDO:equivalentTo"} ! bardet-biedl syndrome 20

[Term]
id: MONDO:0023671
name: oculopharyngodistal myopathy 3
synonym: "OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3" RELATED  [OMIM:619473]
is_a: MONDO:0025193 {source="OMIM:619473"} ! oculopharyngodistal myopathy
xref: OMIM:619473 {source="MONDO:equivalentTo"} ! oculopharyngodistal myopathy 3

[nicolevasilevsky]

I added some of these and made some notes here. Action items are noted in the doc.

[nicolevasilevsky]

To do:

• [x] need to add: [Term] id: MONDO:0023670 name: Bardet-Biedl syndrome 20 synonym: "BBS20" EXACT ABBREVIATION [OMIM:619471] is_a: MONDO:0015229 {source="OMIM:619471"} ! Bardet-Biedl syndrome xref: OMIM:619471 {source="MONDO:equivalentTo"} ! bardet-biedl syndrome 20

• [x] Need to relabel: MONDO_0014926 'Bardet-Biedl syndrome 20' this is now Bardet-Biedl syndrome 22 (https://omim.org/entry/617119)

[nicolevasilevsky]

action items are outlined here (as noted above). To do in November for Dec release.

[joeflack4]

New pipeline looks like it's working now!

[nicolevasilevsky]

To do: updated 10/28/21

• [x] relabel: MONDO_0009466 'neuronal intestinal pseudoobstruction' - label will change to visceral neuropathy, familial, 1, autosomal recessive
• [x] relabel: MONDO_0016215 'spastic quadriplegia' - label will be changed to Spastic quadriplegic cerebral palsy