monarch-initiative / omim

Data ingest pipeline for OMIM.
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Export as RDFXML and ensure no warnings when loading with ROBOT #10

Closed matentzn closed 2 years ago

matentzn commented 3 years ago

Description

@matentzn wrote:

Remember it is imperative you check that the output can be processed with ROBOT (losslessly, other than bnode IDs which will almost certainly be lost, but its not important).

joeflack4 commented 2 years ago

I changed the output format from .ttl to RDF .xml.

As for checking if it is parseable by ROBOT, I have some indicators of success, and indicators of failure.

Indicators of success

1. robot verify doesn't seem to have errors

robot-verify.txt

2. robot convert doesn't seem to have errors

robot-convert.txt

3. make omim_slurp doesn't runs without error, though has warnings

sh run.sh make omim_slurp

Running ODK with 8 GB of memory.
Makefile:1096: warning: overriding recipe for target 'reports/semantic-xref-pairs.tsv'
Makefile:535: warning: ignoring old recipe for target 'reports/semantic-xref-pairs.tsv'
cd sources/omim && make all -B
make[1]: Entering directory '/work/src/ontology/sources/omim'
curl https://github.com/monarch-initiative/omim/releases/download/latest/omim.xml --output omim-src.ttl
  % Total    % Received % Xferd  Average Speed   Time    Time     Time  Current
                                 Dload  Upload   Total   Spent    Left  Speed
100   616  100   616    0     0   2006      0 --:--:-- --:--:-- --:--:--  2006
owltools omim-src.ttl --set-ontology-id /mondo/omim-src.owl -o omim-src.owl
2021-10-05 17:24:27,773 ERROR (OWLOntologyID:82) Ontology IRIs must be absolute; IRI /mondo/omim-src.owl is relative and will be made absolute by prefixing urn:absolute: to it
echo "WARNING: OMIM ingest has multiple labels on classes (see https://github.com/monarch-initiative/dipper/issues/969)"
WARNING: OMIM ingest has multiple labels on classes (see https://github.com/monarch-initiative/dipper/issues/969)
robot convert -i omim-src.owl --check false -f obo -o omim-src.obo.tmp.obo && grep -v ^owl-axioms omim-src.obo.tmp.obo | perl ./bin/fix-omim.pl  > omim-src.obo
rm omim-src.obo.tmp.obo
perl ../../obo-grep.pl --neg -r '(equivalent_to|is_a: SO|property_value: RO:0002524)' omim-src.obo | perl ../../obo-grep.pl -r 'property_value: https://w3id.org/biolink/vocab/category https://w3id.org/biolink/vocab/Disease' - | perl -npe 's@http://omim.org/entry/@OMIM:@g;s@http://www.omim.org/phenotypicSeries/PS@OMIMPS:@g' |  perl ../../obo-grep.pl -r 'id: OMIM' -   > omim.obo.tmp.obo
owltools omim.obo.tmp.obo --set-ontology-id http://purl.obolibrary.org/obo/omim.owl -o -f obo omim.obo && rm omim.obo.tmp.obo
owltools omim.obo --set-ontology-id http://purl.obolibrary.org/obo/omim.owl -o omim.owl
mkdir -p ../releases/v2021-10-05
cp omim.owl ../releases/v2021-10-05
make[1]: Leaving directory '/work/src/ontology/sources/omim'
robot --catalog catalog-v001.xml convert -i sources/omim/omim.owl -o mirror/omim.obo
wget --no-check-certificate http://purl.obolibrary.org/obo/hp.obo -O mirror/hp.obo.tmp && mv mirror/hp.obo.tmp mirror/hp.obo && touch mirror/hp.obo
--2021-10-05 17:24:35--  http://purl.obolibrary.org/obo/hp.obo
Resolving purl.obolibrary.org (purl.obolibrary.org)... 52.3.123.63
Connecting to purl.obolibrary.org (purl.obolibrary.org)|52.3.123.63|:80... connected.
HTTP request sent, awaiting response... 302 Found
Location: https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo [following]
--2021-10-05 17:24:35--  https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo
Resolving raw.githubusercontent.com (raw.githubusercontent.com)... 185.199.109.133, 185.199.110.133, 185.199.111.133, ...
Connecting to raw.githubusercontent.com (raw.githubusercontent.com)|185.199.109.133|:443... connected.
HTTP request sent, awaiting response... 200 OK
Length: 7614919 (7.3M) [text/plain]
Saving to: ‘mirror/hp.obo.tmp’

mirror/hp.obo.tmp                        100%[================================================================================>]   7.26M  3.09MB/s    in 2.4s

2021-10-05 17:24:38 (3.09 MB/s) - ‘mirror/hp.obo.tmp’ saved [7614919/7614919]

cat mirror/omim.obo | perl ../scripts/add-to-tbd.pl > tmp/tbd_omim.tbd
READING mirror/hp.obo
READING mondo-edit.obo
READING omim-exclusion-set.obo
READING NEXT
Use of uninitialized value $xref in pattern match (m//) at ../scripts/add-to-tbd.pl line 295, <> line 3.
Use of uninitialized value $xref in concatenation (.) or string at ../scripts/add-to-tbd.pl line 295, <> line 3.
Use of uninitialized value $name in concatenation (.) or string at ../scripts/add-to-tbd.pl line 295, <> line 3.
cat tmp/tbd_omim.tbd | perl ../scripts/obo-grep.pl --neg -r ALREADY - | perl ../scripts/obo-grep.pl --neg -r is_obsol - | perl ../scripts/obo-grep.pl -r "xref: OMIMPS" - > tmp/ps_slurp_omim.obo
cat tmp/tbd_omim.tbd | perl ../scripts/obo-grep.pl --neg -r ALREADY - | perl ../scripts/obo-grep.pl --neg -r is_obsol - | perl ../scripts/obo-grep.pl -r is_a - | perl ../scripts/obo-grep.pl --neg -r "no mapping" - > tmp/rest_slurp_omim.obo
sed -i -E 's/is_a[:][ ]MONDO[:]0000001[ ][{]source[=]["]OMIM[:][0-9]+["][}][ ][!][ ]disease[ ]or[ ]disorder/is_a: MONDO:0003847/g' tmp/rest_slurp_omim.obo
echo "Slurping of omim completed".
Slurping of omim completed.
rm tmp/tbd_omim.tbd

Indicators of failure

1. Outputs of make omim_slurp are roughly empty

cat tmp/ps_slurp_omim.obo
xref:  {source="MONDO:equivalentTo"} !

cat tmp/rest_slurp_omim.obo
xref:  {source="MONDO:equivalentTo"} !
joeflack4 commented 2 years ago

Related issue; had difficulty slurping, but now fixed: https://github.com/monarch-initiative/mondo/issues/3751

joeflack4 commented 2 years ago

@matentzn Success!

ps_slurp_omim.obo:

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

[Term]
id: MONDO:0030560
name: whim syndrome
xref: OMIMPS:193670 {source="MONDO:equivalentTo"} ! whim syndrome

[Term]
id: MONDO:0030590
name: martsolf syndrome
xref: OMIMPS:212720 {source="MONDO:equivalentTo"} ! martsolf syndrome

[Term]
id: MONDO:0030644
name: visceral neuropathy, familial
xref: OMIMPS:243180 {source="MONDO:equivalentTo"} ! visceral neuropathy, familial

[Term]
id: MONDO:0030960
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:0030970
name: portal hypertension, noncirrhotic
xref: OMIMPS:617068 {source="MONDO:equivalentTo"} ! portal hypertension, noncirrhotic

rest_slurp_omim.obo

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

[Term]
id: MONDO:0030258
name: pontocerebellar hypoplasia, type 14
synonym: "PCH14" RELATED  [OMIM:619301]
synonym: "pontocerebellar hypoplasia, type 14" RELATED  [OMIM:619301]
is_a: MONDO:0020135 {source="OMIM:619301"} ! pontocerebellar hypoplasia
xref: OMIM:619301 {source="MONDO:equivalentTo"} ! pontocerebellar hypoplasia, type 14

[Term]
id: MONDO:0030259
name: pontocerebellar hypoplasia, type 15
synonym: "PCH15" RELATED  [OMIM:619302]
synonym: "pontocerebellar hypoplasia, type 15" RELATED  [OMIM:619302]
is_a: MONDO:0020135 {source="OMIM:619302"} ! pontocerebellar hypoplasia
xref: OMIM:619302 {source="MONDO:equivalentTo"} ! pontocerebellar hypoplasia, type 15

[Term]
id: MONDO:0030260
name: pontocerebellar hypoplasia, type 1e
synonym: "PCH1E" RELATED  [OMIM:619303]
synonym: "pontocerebellar hypoplasia, type 1e" RELATED  [OMIM:619303]
is_a: MONDO:0020135 {source="OMIM:619303"} ! pontocerebellar hypoplasia
xref: OMIM:619303 {source="MONDO:equivalentTo"} ! pontocerebellar hypoplasia, type 1e

[Term]
id: MONDO:0030261
name: pontocerebellar hypoplasia, type 1f
synonym: "PCH1F" RELATED  [OMIM:619304]
synonym: "pontocerebellar hypoplasia, type 1f" RELATED  [OMIM:619304]
is_a: MONDO:0020135 {source="OMIM:619304"} ! pontocerebellar hypoplasia
xref: OMIM:619304 {source="MONDO:equivalentTo"} ! pontocerebellar hypoplasia, type 1f

[Term]
id: MONDO:0030263
name: leukodystrophy, hypomyelinating, 21
synonym: "HLD21" RELATED  [OMIM:619310]
synonym: "leukodystrophy, hypomyelinating, 21" RELATED  [OMIM:619310]
is_a: MONDO:0019046 {source="OMIM:619310"} ! leukodystrophy
xref: OMIM:619310 {source="MONDO:equivalentTo"} ! leukodystrophy, hypomyelinating, 21

[Term]
id: MONDO:0030266
name: immunodeficiency 80 with or without congenital cardiomyopathy
synonym: "IMD80" RELATED  [OMIM:619313]
synonym: "immunodeficiency 80 with or without congenital cardiomyopathy" RELATED  [OMIM:619313]
synonym: "mcm10 deficiency" RELATED  [OMIM:619313]
is_a: MONDO:0021094 {source="OMIM:619313"} ! immunodeficiency disease
xref: OMIM:619313 {source="MONDO:equivalentTo"} ! immunodeficiency 80 with or without congenital cardiomyopathy

[Term]
id: MONDO:0030268
name: developmental and epileptic encephalopathy 6b
synonym: "DEE6B" RELATED  [OMIM:619317]
synonym: "developmental and epileptic encephalopathy 6b" RELATED  [OMIM:619317]
is_a: MONDO:0100062 {source="OMIM:619317"} ! developmental and epileptic encephalopathy
xref: OMIM:619317 {source="MONDO:equivalentTo"} ! developmental and epileptic encephalopathy 6b

[Term]
id: MONDO:0030270
name: lymphatic malformation 9
synonym: "LMPHM9" RELATED  [OMIM:619319]
synonym: "lymphatic malformation 9" RELATED  [OMIM:619319]
is_a: MONDO:0019313 {source="OMIM:619319"} ! hereditary lymphedema
xref: OMIM:619319 {source="MONDO:equivalentTo"} ! lymphatic malformation 9

[Term]
id: MONDO:0030281
name: arthrogryposis multiplex congenita 6
synonym: "AMC6" RELATED  [OMIM:619334]
synonym: "arthrogryposis multiplex congenita 6" RELATED  [OMIM:619334]
is_a: MONDO:0015168 {source="OMIM:619334"} ! arthrogryposis multiplex congenita
xref: OMIM:619334 {source="MONDO:equivalentTo"} ! arthrogryposis multiplex congenita 6

[Term]
id: MONDO:0030293
name: angioedema, hereditary, 5
synonym: "angioedema, hereditary, 5" RELATED  [OMIM:619361]
synonym: "HAE5" RELATED  [OMIM:619361]
is_a: MONDO:0019623 {source="OMIM:619361"} ! hereditary angioedema
xref: OMIM:619361 {source="MONDO:equivalentTo"} ! angioedema, hereditary, 5

[Term]
id: MONDO:0030294
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 3
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" RELATED  [OMIM:619362]
synonym: "MMIHS3" RELATED  [OMIM:619362]
is_a: MONDO:0025986 {source="OMIM:619362"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome
xref: OMIM:619362 {source="MONDO:equivalentTo"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome 3

[Term]
id: MONDO:0030296
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" RELATED  [OMIM:619365]
synonym: "MMIHS4" RELATED  [OMIM:619365]
is_a: MONDO:0025986 {source="OMIM:619365"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome
xref: OMIM:619365 {source="MONDO:equivalentTo"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome 4

[Term]
id: MONDO:0030298
name: angioedema, hereditary, 8
synonym: "angioedema, hereditary, 8" RELATED  [OMIM:619367]
synonym: "HAE8" RELATED  [OMIM:619367]
is_a: MONDO:0019623 {source="OMIM:619367"} ! hereditary angioedema
xref: OMIM:619367 {source="MONDO:equivalentTo"} ! angioedema, hereditary, 8

[Term]
id: MONDO:0030300
name: cardiomyopathy, dilated, 2d
synonym: "cardiomyopathy, dilated, 2d" RELATED  [OMIM:619371]
synonym: "CMD2D" RELATED  [OMIM:619371]
is_a: MONDO:0016333 {source="OMIM:619371"} ! familial dilated cardiomyopathy
xref: OMIM:619371 {source="MONDO:equivalentTo"} ! cardiomyopathy, dilated, 2d

[Term]
id: MONDO:0030302
name: immunodeficiency 81
synonym: "IMD81" RELATED  [OMIM:619374]
synonym: "immunodeficiency 81" RELATED  [OMIM:619374]
is_a: MONDO:0021094 {source="OMIM:619374"} ! immunodeficiency disease
xref: OMIM:619374 {source="MONDO:equivalentTo"} ! immunodeficiency 81

[Term]
id: MONDO:0030307
name: spermatogenic failure 55
synonym: "spermatogenic failure 55" RELATED  [OMIM:619380]
synonym: "SPGF55" RELATED  [OMIM:619380]
is_a: MONDO:0004983 {source="OMIM:619380"} ! azoospermia
xref: OMIM:619380 {source="MONDO:equivalentTo"} ! spermatogenic failure 55

[Term]
id: MONDO:0030308
name: immunodeficiency 82 with systemic inflammation
synonym: "IMD82" RELATED  [OMIM:619381]
synonym: "immunodeficiency 82 with systemic inflammation" RELATED  [OMIM:619381]
is_a: MONDO:0021094 {source="OMIM:619381"} ! immunodeficiency disease
xref: OMIM:619381 {source="MONDO:equivalentTo"} ! immunodeficiency 82 with systemic inflammation

[Term]
id: MONDO:0030309
name: leber hereditary optic neuropathy, autosomal recessive
synonym: "leber hereditary optic neuropathy, autosomal recessive" RELATED  [OMIM:619382]
synonym: "LHONAR" RELATED  [OMIM:619382]
synonym: "mitochondrial complex 1 deficiency, nuclear type 38" RELATED  [OMIM:619382]
is_a: MONDO:0100223 {source="OMIM:619382"} ! mitochondrial complex I deficiency, nuclear type
xref: OMIM:619382 {source="MONDO:equivalentTo"} ! leber hereditary optic neuropathy, autosomal recessive

[Term]
id: MONDO:0030311
name: combined oxidative phosphorylation deficiency 52
synonym: "combined oxidative phosphorylation deficiency 52" RELATED  [OMIM:619386]
synonym: "COXPD52" RELATED  [OMIM:619386]
is_a: MONDO:0000732 {source="OMIM:619386"} ! combined oxidative phosphorylation deficiency
xref: OMIM:619386 {source="MONDO:equivalentTo"} ! combined oxidative phosphorylation deficiency 52

[Term]
id: MONDO:0030312
name: spinocerebellar ataxia, autosomal recessive 29
synonym: "barakat-van ham-kaya syndrome" RELATED  [OMIM:619389]
synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" RELATED  [OMIM:619389]
synonym: "SCAR29" RELATED  [OMIM:619389]
synonym: "spinocerebellar ataxia, autosomal recessive 29" RELATED  [OMIM:619389]
is_a: MONDO:0015244 {source="OMIM:619389"} ! autosomal recessive cerebellar ataxia
xref: OMIM:619389 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive 29

[Term]
id: MONDO:0030313
name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
synonym: "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" RELATED  [OMIM:619396]
synonym: "herpes simplex encephalitis, susceptibility to, 7" RELATED  [OMIM:619396]
synonym: "IIAE10" RELATED  [OMIM:619396]
is_a: MONDO:0000166 {source="OMIM:619396"} ! encephalopathy, acute, infection-induced
xref: OMIM:619396 {source="MONDO:equivalentTo"} ! encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10

[Term]
id: MONDO:0030314
name: inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
synonym: "IBD31" RELATED  [OMIM:619398]
synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" RELATED  [OMIM:619398]
synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED  [OMIM:619398]
is_a: MONDO:0005265 {source="OMIM:619398"} ! inflammatory bowel disease
xref: OMIM:619398 {source="MONDO:equivalentTo"} ! inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive

[Term]
id: MONDO:0030316
name: lymphatic malformation 11
synonym: "LMPHM11" RELATED  [OMIM:619401]
synonym: "lymphatic malformation 11" RELATED  [OMIM:619401]
is_a: MONDO:0019313 {source="OMIM:619401"} ! hereditary lymphedema
xref: OMIM:619401 {source="MONDO:equivalentTo"} ! lymphatic malformation 11

[Term]
id: MONDO:0030317
name: cardiomyopathy, familial hypertrophic, 28
synonym: "cardiomyopathy, familial hypertrophic, 28" RELATED  [OMIM:619402]
synonym: "CMH28" RELATED  [OMIM:619402]
is_a: MONDO:0024573 {source="OMIM:619402"} ! familial hypertrophic cardiomyopathy
xref: OMIM:619402 {source="MONDO:equivalentTo"} ! cardiomyopathy, familial hypertrophic, 28

[Term]
id: MONDO:0030318
name: spinocerebellar ataxia, autosomal recessive 30
synonym: "SCAR30" RELATED  [OMIM:619405]
synonym: "spinocerebellar ataxia, autosomal recessive 30" RELATED  [OMIM:619405]
is_a: MONDO:0015244 {source="OMIM:619405"} ! autosomal recessive cerebellar ataxia
xref: OMIM:619405 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive 30

[Term]
id: MONDO:0030323
name: spinocerebellar ataxia, autosomal recessive 31
synonym: "SCAR31" RELATED  [OMIM:619422]
synonym: "spinocerebellar ataxia, autosomal recessive 31" RELATED  [OMIM:619422]
is_a: MONDO:0015244 {source="OMIM:619422"} ! autosomal recessive cerebellar ataxia
xref: OMIM:619422 {source="MONDO:equivalentTo"} ! spinocerebellar ataxia, autosomal recessive 31

[Term]
id: MONDO:0030326
name: mitochondrial dna depletion syndrome 16b (neuroophthalmic type)
synonym: "mitochondrial dna depletion syndrome 16b (neuroophthalmic type)" RELATED  [OMIM:619425]
synonym: "MTDPS16B" RELATED  [OMIM:619425]
is_a: MONDO:0018158 {source="OMIM:619425"} ! mitochondrial DNA depletion syndrome
xref: OMIM:619425 {source="MONDO:equivalentTo"} ! mitochondrial dna depletion syndrome 16b (neuroophthalmic type)

[Term]
id: MONDO:0030329
name: megacystis-microcolon-intestinal hypoperistalsis syndrome 5
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" RELATED  [OMIM:619431]
synonym: "MMIHS5" RELATED  [OMIM:619431]
is_a: MONDO:0025986 {source="OMIM:619431"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome
xref: OMIM:619431 {source="MONDO:equivalentTo"} ! megacystis-microcolon-intestinal hypoperistalsis syndrome 5

[Term]
id: MONDO:0030330
name: cardiomyopathy, familial restrictive, 6
synonym: "cardiomyopathy, familial restrictive, 6" RELATED  [OMIM:619433]
synonym: "RCM6" RELATED  [OMIM:619433]
is_a: MONDO:0016340 {source="OMIM:619433"} ! familial restrictive cardiomyopathy
xref: OMIM:619433 {source="MONDO:equivalentTo"} ! cardiomyopathy, familial restrictive, 6

[Term]
id: MONDO:0030331
name: ritscher-schinzel syndrome 4
synonym: "ritscher-schinzel syndrome 4" RELATED  [OMIM:619435]
synonym: "RTSC4" RELATED  [OMIM:619435]
is_a: MONDO:0019078 {source="OMIM:619435"} ! Ritscher-Schinzel syndrome
xref: OMIM:619435 {source="MONDO:equivalentTo"} ! ritscher-schinzel syndrome 4

[Term]
id: MONDO:0030332
name: ciliary dyskinesia, primary, 46
synonym: "CILD46" RELATED  [OMIM:619436]
synonym: "ciliary dyskinesia, primary, 46" RELATED  [OMIM:619436]
is_a: MONDO:0016575 {source="OMIM:619436"} ! primary ciliary dyskinesia
xref: OMIM:619436 {source="MONDO:equivalentTo"} ! ciliary dyskinesia, primary, 46

[Term]
id: MONDO:0030333
name: immunodeficiency 84
synonym: "IMD84" RELATED  [OMIM:619437]
synonym: "immunodeficiency 84" RELATED  [OMIM:619437]
is_a: MONDO:0021094 {source="OMIM:619437"} ! immunodeficiency disease
xref: OMIM:619437 {source="MONDO:equivalentTo"} ! immunodeficiency 84

[Term]
id: MONDO:0030334
name: encephalitis, acute, infection (viral)-induced, susceptibility to, 11
synonym: "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" RELATED  [OMIM:619441]
synonym: "IIAE11" RELATED  [OMIM:619441]
is_a: MONDO:0000166 {source="OMIM:619441"} ! encephalopathy, acute, infection-induced
xref: OMIM:619441 {source="MONDO:equivalentTo"} ! encephalitis, acute, infection (viral)-induced, susceptibility to, 11

[Term]
id: MONDO:0030335
name: diarrhea 12, with microvillus atrophy
synonym: "DIAR12" RELATED  [OMIM:619445]
synonym: "diarrhea 12, with microvillus atrophy" RELATED  [OMIM:619445]
synonym: "microvillus inclusion disease 2" RELATED  [OMIM:619445]
is_a: MONDO:0000824 {source="OMIM:619445"} ! congenital diarrhea
xref: OMIM:619445 {source="MONDO:equivalentTo"} ! diarrhea 12, with microvillus atrophy

[Term]
id: MONDO:0030337
name: cutis laxa, autosomal recessive, type 2e
synonym: "ARCL2E" RELATED  [OMIM:619451]
synonym: "cutis laxa, autosomal recessive, type 2e" RELATED  [OMIM:619451]
is_a: MONDO:0100237 {source="OMIM:619451"} ! inherited cutis laxa
xref: OMIM:619451 {source="MONDO:equivalentTo"} ! cutis laxa, autosomal recessive, type 2e

[Term]
id: MONDO:0030338
name: anencephaly 2
synonym: "anencephaly 2" RELATED  [OMIM:619452]
synonym: "ANPH2" RELATED  [OMIM:619452]
is_a: MONDO:0000819 {source="OMIM:619452"} ! anencephaly
xref: OMIM:619452 {source="MONDO:equivalentTo"} ! anencephaly 2

[Term]
id: MONDO:0030339
name: microcephaly 28, primary, autosomal recessive
synonym: "MCPH28" RELATED  [OMIM:619453]
synonym: "microcephaly 28, primary, autosomal recessive" RELATED  [OMIM:619453]
is_a: MONDO:0016660 {source="OMIM:619453"} ! autosomal recessive primary microcephaly
xref: OMIM:619453 {source="MONDO:equivalentTo"} ! microcephaly 28, primary, autosomal recessive

[Term]
id: MONDO:0030341
name: myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive
synonym: "CMS7B" RELATED  [OMIM:619461]
synonym: "myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive" RELATED  [OMIM:619461]
is_a: MONDO:0018940 {source="OMIM:619461"} ! congenital myasthenic syndrome
xref: OMIM:619461 {source="MONDO:equivalentTo"} ! myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive

[Term]
id: MONDO:0030346
name: ciliary dyskinesia, primary, 47, and lissencephaly
synonym: "CILD47" RELATED  [OMIM:619466]
synonym: "ciliary dyskinesia, primary, 47, and lissencephaly" RELATED  [OMIM:619466]
is_a: MONDO:0016575 {source="OMIM:619466"} ! primary ciliary dyskinesia
xref: OMIM:619466 {source="MONDO:equivalentTo"} ! ciliary dyskinesia, primary, 47, and lissencephaly

[Term]
id: MONDO:0030353
name: joubert syndrome 38
synonym: "JBTS38" RELATED  [OMIM:619476]
synonym: "joubert syndrome 38" RELATED  [OMIM:619476]
is_a: MONDO:0018772 {source="OMIM:619476"} ! Joubert syndrome
xref: OMIM:619476 {source="MONDO:equivalentTo"} ! joubert syndrome 38

[Term]
id: MONDO:0030354
name: facioscapulohumeral muscular dystrophy 3, digenic
synonym: "facioscapulohumeral muscular dystrophy 3, digenic" RELATED  [OMIM:619477]
synonym: "FSHD3" RELATED  [OMIM:619477]
is_a: MONDO:0001347 {source="OMIM:619477"} ! facioscapulohumeral muscular dystrophy
xref: OMIM:619477 {source="MONDO:equivalentTo"} ! facioscapulohumeral muscular dystrophy 3, digenic

[Term]
id: MONDO:0030355
name: facioscapulohumeral muscular dystrophy 4, digenic
synonym: "facioscapulohumeral muscular dystrophy 4, digenic" RELATED  [OMIM:619478]
synonym: "FSHD4" RELATED  [OMIM:619478]
is_a: MONDO:0001347 {source="OMIM:619478"} ! facioscapulohumeral muscular dystrophy
xref: OMIM:619478 {source="MONDO:equivalentTo"} ! facioscapulohumeral muscular dystrophy 4, digenic

[Term]
id: MONDO:0030356
name: short-rib thoracic dysplasia 21 without polydactyly
synonym: "short-rib thoracic dysplasia 21 without polydactyly" RELATED  [OMIM:619479]
synonym: "SRTD21" RELATED  [OMIM:619479]
is_a: MONDO:0018770 {source="OMIM:619479"} ! Jeune syndrome
xref: OMIM:619479 {source="MONDO:equivalentTo"} ! short-rib thoracic dysplasia 21 without polydactyly

[Term]
id: MONDO:0030360
name: cholestasis, progressive familial intrahepatic, 6
synonym: "cholestasis, progressive familial intrahepatic, 6" RELATED  [OMIM:619484]
synonym: "PFIC6" RELATED  [OMIM:619484]
is_a: MONDO:0015762 {source="OMIM:619484"} ! progressive familial intrahepatic cholestasis
xref: OMIM:619484 {source="MONDO:equivalentTo"} ! cholestasis, progressive familial intrahepatic, 6

[Term]
id: MONDO:0030361
name: aicardi-goutieres syndrome 8
synonym: "AGS8" RELATED  [OMIM:619486]
synonym: "aicardi-goutieres syndrome 8" RELATED  [OMIM:619486]
is_a: MONDO:0018866 {source="OMIM:619486"} ! Aicardi-Goutieres syndrome
xref: OMIM:619486 {source="MONDO:equivalentTo"} ! aicardi-goutieres syndrome 8

[Term]
id: MONDO:0030362
name: aicardi-goutieres syndrome 9
synonym: "AGS9" RELATED  [OMIM:619487]
synonym: "aicardi-goutieres syndrome 9" RELATED  [OMIM:619487]
is_a: MONDO:0018866 {source="OMIM:619487"} ! Aicardi-Goutieres syndrome
xref: OMIM:619487 {source="MONDO:equivalentTo"} ! aicardi-goutieres syndrome 9

[Term]
id: MONDO:0030366
name: cardiomyopathy, dilated, 2e
synonym: "cardiomyopathy, dilated, 2e" RELATED  [OMIM:619492]
synonym: "CMD2E" RELATED  [OMIM:619492]
is_a: MONDO:0016333 {source="OMIM:619492"} ! familial dilated cardiomyopathy
xref: OMIM:619492 {source="MONDO:equivalentTo"} ! cardiomyopathy, dilated, 2e

Attachments

slurp results.zip

matentzn commented 2 years ago

I am so glad this works, great work!