Orphanet slurp

[matentzn]

I just ran the Orphanet slurp yesterday (@cmungall), and this is what it came up with:

I don't know what to do with this; @nicolevasilevsky maybe you can figure it out?

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

[Term]
id: MONDO:0034846
name: primary desmosis coli
subset: ordo_disease
xref: ICD10:K59.9 {source="Orphanet:565641"} {http://www.geneontology.org/formats/oboInOwlsource="NTBT (ORPHA code's Narrower Term maps to a Broader Term)"}
is_a: MONDO:0015245 {source="Orphanet:565641"} ! obsolete rare intestinal disease
is_a: MONDO:0000001 {source="Orphanet:565641"} ! disease or disorder
xref: Orphanet:565641 {source="MONDO:equivalentTo"} ! primary desmosis coli

[Term]
id: MONDO:0034849
name: laminin subunit alpha 2-related limb-girdle muscular dystrophy r23
subset: ordo_disease
is_a: MONDO:0015152 {source="Orphanet:565837"} ! autosomal recessive limb-girdle muscular dystrophy
is_a: MONDO:0016149 {source="Orphanet:565837"} ! qualitative or quantitative defects of merosin
is_a: MONDO:0000001 {source="Orphanet:565837"} ! disease or disorder
xref: Orphanet:565837 {source="MONDO:equivalentTo"} ! laminin subunit alpha 2-related limb-girdle muscular dystrophy r23

[Term]
id: MONDO:0034965
name: middle east respiratory syndrome
subset: ordo_disease
is_a: MONDO:0015118 {source="Orphanet:576074"} ! obsolete rare pulmonary disease
is_a: MONDO:0015576 {source="Orphanet:576074"} ! obsolete rare viral disease
is_a: MONDO:0000001 {source="Orphanet:576074"} ! disease or disorder
xref: Orphanet:576074 {source="MONDO:equivalentTo"} ! middle east respiratory syndrome

[Term]
id: MONDO:0034972
name: nlrc4-related familial cold autoinflammatory syndrome
subset: ordo_disease
xref: OMIM:616115 {source="Orphanet:576349"} {http://www.geneontology.org/formats/oboInOwlsource="E (Exact mapping: the two concepts are equivalent)"}
is_a: MONDO:0017370 {source="Orphanet:576349"} ! autoinflammatory syndrome with skin involvement
is_a: MONDO:0017953 {source="Orphanet:576349"} ! hereditary periodic fever syndrome
is_a: MONDO:0000001 {source="Orphanet:576349"} ! disease or disorder
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16412 {source="Orphanet:576349"} ! NLRC4
xref: Orphanet:576349 {source="MONDO:equivalentTo"} ! nlrc4-related familial cold autoinflammatory syndrome

[Term]
id: MONDO:0034975
name: variant creutzfeldt-jakob disease
subset: ordo_disease
is_a: MONDO:0000001 {source="Orphanet:576370"} ! disease or disorder
is_a: MONDO:0018686 {source="Orphanet:576370"} ! acquired Creutzfeldt-Jakob disease
xref: Orphanet:576370 {source="MONDO:equivalentTo"} ! variant creutzfeldt-jakob disease

[Term]
id: MONDO:0034976
name: iatrogenic creutzfeldt-jakob disease
subset: ordo_disease
is_a: MONDO:0000001 {source="Orphanet:576379"} ! disease or disorder
is_a: MONDO:0018686 {source="Orphanet:576379"} ! acquired Creutzfeldt-Jakob disease
xref: Orphanet:576379 {source="MONDO:equivalentTo"} ! iatrogenic creutzfeldt-jakob disease

[Term]
id: MONDO:0034987
name: intraductal tubulopapillary neoplasm of pancreas
subset: ordo_disease
is_a: MONDO:0000001 {source="Orphanet:580572"} ! disease or disorder
is_a: MONDO:0018520 {source="Orphanet:580572"} ! rare epithelial tumor of pancreas
xref: Orphanet:580572 {source="MONDO:equivalentTo"} ! intraductal tubulopapillary neoplasm of pancreas

[Term]
id: MONDO:0035004
name: serine biosynthesis pathway deficiency, infantile/juvenile form
subset: ordo_disease
is_a: MONDO:0015162 {source="Orphanet:583595"} ! obsolete rare syndromic intellectual disability
is_a: MONDO:0015983 {source="Orphanet:583595"} ! obsolete rare genetic syndromic intellectual disability
is_a: MONDO:0018162 {source="Orphanet:583595"} ! neurometabolic disorder due to serine deficiency
is_a: MONDO:0000001 {source="Orphanet:583595"} ! disease or disorder
xref: Orphanet:583595 {source="MONDO:equivalentTo"} ! serine biosynthesis pathway deficiency, infantile/juvenile form

[Term]
id: MONDO:0035008
name: isolated splenic vein thrombosis
subset: ordo_disease
is_a: MONDO:0000001 {source="Orphanet:583856"} ! disease or disorder
is_a: MONDO:0019997 {source="Orphanet:583856"} ! obsolete rare gastroenterologic disease
xref: Orphanet:583856 {source="MONDO:equivalentTo"} ! isolated splenic vein thrombosis

[Term]
id: MONDO:0035009
name: isolated mesenteric vein thrombosis
subset: ordo_disease
is_a: MONDO:0015245 {source="Orphanet:583861"} ! obsolete rare intestinal disease
is_a: MONDO:0000001 {source="Orphanet:583861"} ! disease or disorder
xref: Orphanet:583861 {source="MONDO:equivalentTo"} ! isolated mesenteric vein thrombosis

[nicolevasilevsky]

seems like we do have some of these already in Mondo, from different sources. In those cases, I'll add the Orphanet xref.

Otherwise I'll add these as new terms. I assume that is what is supposed to be done, but I don't know for sure.

[matentzn]

Yeah sounds good I think.. Makes sense. Check them 1 by 1, add xrefs were missing and new terms where necessary! Cool!