Closed matentzn closed 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.
robot verify
doesn't seem to have errorsrobot convert
doesn't seem to have errorsmake omim_slurp
doesn't runs without error, though has warningssh 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
make omim_slurp
are roughly emptycat tmp/ps_slurp_omim.obo
xref: {source="MONDO:equivalentTo"} !
cat tmp/rest_slurp_omim.obo
xref: {source="MONDO:equivalentTo"} !
Related issue; had difficulty slurping, but now fixed: https://github.com/monarch-initiative/mondo/issues/3751
@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
I am so glad this works, great work!
Description
@matentzn wrote: