obsolete MONDO:0010394

closes #1019

src/ontology/mondo-edit.obo

@@ -198956,18 +198956,27 @@ is_a: MONDO:0010108 {source="MONDOLEX:0010274"} ! testicular germ cell tumor
 id: MONDO:0010275
 name: spondyloepimetaphyseal dysplasia, Bieganski type
 def: "Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy." [Orphanet:168448]
-subset: ordo_disease {source="Orphanet:168448"}
+subset: ordo_disease {source="Orphanet:168448", source="Orphanet:83629"}
+synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660]
+synonym: "leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD" RELATED [OMIM:300660]
+synonym: "LKMCD" RELATED [MONDO:Lexical, OMIM:300660]
 synonym: "SEMD X-linked with mental deterioration" RELATED [GARD:0004891]
 synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232]
 synonym: "spondyloepimetaphyseal dysplasia x-linked with mental deterioration" RELATED [GARD:0004891]
 synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232]
 xref: GARD:0004891 {source="MONDO:equivalentTo", source="OMIM-shared"}
+xref: ICD10:G11.4 {source="ORDO:83629/attributed", source="ORDO:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"}
 xref: ICD10:Q77.7 {source="ORDO:168448/attributed", source="ORDO:168448/ntbt", source="Orphanet:168448"}
 xref: MESH:C536671 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
+xref: MESH:C567065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
 xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="ORDO:168448/e"}
+xref: OMIM:300660 {source="MONDO:equivalentTo", source="ORDO:83629/e", source="Orphanet:83629"}
 xref: Orphanet:168448 {source="OMIM:300232", source="MONDO:equivalentTo"}
+xref: Orphanet:83629 {source="OMIM:300660", source="MONDO:equivalentTo"}
 xref: UMLS:C1846148 {source="OMIM:300232", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
+xref: UMLS:C1970840 {source="NCBI:mim2gene_medline", source="OMIM:300660", source="MONDO:equivalentTo", source="Orphanet:83629"}
 is_a: MONDO:0016761 {source="Orphanet:168448"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
+is_a: MONDO:0024237 {source="Orphanet:83629"} ! inherited neurodegenerative disorder
 property_value: confidence "2.692307692307692" xsd:double
 
 [Term]
@@ -201602,19 +201611,9 @@ property_value: confidence "2.6000000000000005" xsd:double
 
 [Term]
 id: MONDO:0010394
-name: leukoencephalopathy-metaphyseal chondrodysplasia syndrome
-def: "The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27." [Orphanet:83629]
-subset: ordo_disease {source="Orphanet:83629"}
-synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660]
-synonym: "leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD" RELATED [OMIM:300660]
-synonym: "LKMCD" RELATED [MONDO:Lexical, OMIM:300660]
-xref: ICD10:G11.4 {source="ORDO:83629/attributed", source="ORDO:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"}
-xref: MESH:C567065 {source="MONDO:equivalentTo", source="MONDO:ontobio"}
-xref: OMIM:300660 {source="MONDO:equivalentTo", source="ORDO:83629/e", source="Orphanet:83629"}
-xref: Orphanet:83629 {source="OMIM:300660", source="MONDO:equivalentTo"}
-xref: UMLS:C1970840 {source="NCBI:mim2gene_medline", source="OMIM:300660", source="MONDO:equivalentTo", source="Orphanet:83629"}
-is_a: MONDO:0024237 {source="Orphanet:83629"} ! inherited neurodegenerative disorder
-property_value: confidence "3.533333333333334" xsd:double
+name: obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome
+is_obsolete: true
+replaced_by: MONDO:0010275
 
 [Term]
 id: MONDO:0010395
@@ -279824,7 +279823,7 @@ xref: UMLS:C3808991 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"
 is_a: MONDO:0000508 {source="Orphanet:404454"} ! syndromic intellectual disability
 is_a: MONDO:0019214 {source="DOID:0060728"} ! inborn carbohydrate metabolic disorder
 is_a: MONDO:0019602 {source="Orphanet:404454"} ! other inborn metabolic disease
-relationship: disease_has_basis_in_disruption_of GO:0000224 ! peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
+relationship: disease_has_basis_in_disruption_of GO:0000224
 relationship: disease_has_basis_in_disruption_of GO:0006517 ! protein deglycosylation
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17646 {source="mim2gene_medgen"} ! NGLY1
 relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare