Skip to content

Commit

Permalink
Revert MTPD and revise with subtypes
Browse files Browse the repository at this point in the history 
This partially reverts commit e5c943c, in which MTPD was
incorrectly revised to MTPD1. A new disease entity is added for
MTPD1 instead. Includes revisions of MTPD & MTPD2.

See issue #1394
  • Loading branch information
@allenbaron
allenbaron committed Nov 1, 2024
1 parent ec5dd21 commit 5d72d57
Showing 1 changed file with 19 additions and 6 deletions.
25 changes: 19 additions & 6 deletions src/ontology/doid-edit.owl
View file
Original file line number Diff line number Diff line change
Expand Up @@ -2599,6 +2599,7 @@ Declaration(Class(obo:DOID_0070615))
Declaration(Class(obo:DOID_0070616))
Declaration(Class(obo:DOID_0070617))
Declaration(Class(obo:DOID_0070618))
Declaration(Class(obo:DOID_0070619))
Declaration(Class(obo:DOID_0080000))
Declaration(Class(obo:DOID_0080001))
Declaration(Class(obo:DOID_0080005))
Expand Down Expand Up @@ -41783,12 +41784,13 @@ SubClassOf(obo:DOID_0060998 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0060999 (mitochondrial trifunctional protein deficiency 2)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12754706/") obo:IAO_0000115 obo:DOID_0060999 "A lipid metabolism disorder that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12754706/") obo:IAO_0000115 obo:DOID_0060999 "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060999 "MIM:620300")
AnnotationAssertion(Annotation(dc:type obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060999 "MTPD2"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060999 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0060999 "DOID:0060999")
AnnotationAssertion(rdfs:label obo:DOID_0060999 "mitochondrial trifunctional protein deficiency 2"@en)
SubClassOf(obo:DOID_0060999 obo:DOID_3146)
SubClassOf(obo:DOID_0060999 obo:DOID_0111277)
SubClassOf(obo:DOID_0060999 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# Class: obo:DOID_0061001 (glycine encephalopathy 2)
Expand Down Expand Up @@ -50174,6 +50176,17 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070618 "MIM:609322")
SubClassOf(obo:DOID_0070618 obo:DOID_0070617)
SubClassOf(obo:DOID_0070618 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0070619 (mitochondrial trifunctional protein deficiency 1)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/12754706/") obo:IAO_0000115 obo:DOID_0070619 "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070619 "MIM:609015")
AnnotationAssertion(Annotation(dc:type obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070619 "MTPD1"@en)
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070619 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0070619 "DOID:0070619")
AnnotationAssertion(rdfs:label obo:DOID_0070619 "mitochondrial trifunctional protein deficiency 1"@en)
AnnotationAssertion(skos:exactMatch obo:DOID_0070619 "MIM:609015")
SubClassOf(obo:DOID_0070619 obo:DOID_0111277)

# Class: obo:DOID_0080000 (muscular disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles."@en)
Expand Down Expand Up @@ -86182,12 +86195,12 @@ AnnotationAssertion(rdfs:label obo:DOID_0111276 "sensory ataxic neuropathy, dysa
SubClassOf(obo:DOID_0111276 obo:DOID_700)
SubClassOf(obo:DOID_0111276 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# Class: obo:DOID_0111277 (mitochondrial trifunctional protein deficiency 1)
# Class: obo:DOID_0111277 (mitochondrial trifunctional protein deficiency)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12754706") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12838198") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7738175") obo:IAO_0000115 obo:DOID_0111277 "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12754706") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12838198") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7738175") obo:IAO_0000115 obo:DOID_0111277 "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "GARD:3684")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "MESH:C566945")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "MIM:609015")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "MIM:PS609015")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "NCI:C98991")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "ORDO:746")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111277 "SNOMEDCT_US_2023_03_01:237999008")
Expand All @@ -86199,7 +86212,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111277 "disease_ontology"
AnnotationAssertion(oboInOwl:id obo:DOID_0111277 "DOID:0111277")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111277 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111277 doid:NCIthesaurus)
AnnotationAssertion(rdfs:label obo:DOID_0111277 "mitochondrial trifunctional protein deficiency 1"@en)
AnnotationAssertion(rdfs:label obo:DOID_0111277 "mitochondrial trifunctional protein deficiency"@en)
SubClassOf(obo:DOID_0111277 obo:DOID_3146)
SubClassOf(obo:DOID_0111277 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
SubClassOf(obo:DOID_0111277 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0000580))
Expand Down

0 comments on commit 5d72d57

Please sign in to comment.