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@elviram
elviram committed Feb 17, 2017
1 parent 584384b commit f4fe082
Showing 1 changed file with 137 additions and 2 deletions.
139 changes: 137 additions & 2 deletions src/ontology/doid-edit.owl
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Expand Up @@ -1753,6 +1753,15 @@ Declaration(Class(obo:DOID_0060872))
Declaration(Class(obo:DOID_0060873))
Declaration(Class(obo:DOID_0060874))
Declaration(Class(obo:DOID_0060875))
Declaration(Class(obo:DOID_0060877))
Declaration(Class(obo:DOID_0060878))
Declaration(Class(obo:DOID_0060879))
Declaration(Class(obo:DOID_0060880))
Declaration(Class(obo:DOID_0060881))
Declaration(Class(obo:DOID_0060882))
Declaration(Class(obo:DOID_0060883))
Declaration(Class(obo:DOID_0060884))
Declaration(Class(obo:DOID_0060885))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070003))
Declaration(Class(obo:DOID_0070004))
Expand Down Expand Up @@ -31906,7 +31915,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060848 "OMIM:300088")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060848 "ORDO:101039")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "EFMR")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "EIEE9")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "Juberg–Hellman syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "Juberg Hellman syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "early infantile female-limited epilecptic encephalopathy")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060848 "female restricted epilepsy with mental retardation")
AnnotationAssertion(oboInOwl:id obo:DOID_0060848 "DOID:0060848")
Expand Down Expand Up @@ -32255,6 +32264,128 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0060875 "DOID:0060875")
AnnotationAssertion(rdfs:label obo:DOID_0060875 "isolated growth hormone deficiency type III"^^xsd:string)
SubClassOf(obo:DOID_0060875 obo:DOID_0060870)

# Class: obo:DOID_0060877 (ichthyosis bullosa of Siemens)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/4247927") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7524919") obo:IAO_0000115 obo:DOID_0060877 "An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060877 "ICD10CM:Q80.8")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060877 "MSH:D053560")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060877 "OMIM:146800")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060877 "ORDO:455")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060877 "UMLS_CUI:C0432306")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060877 "bullous type ichthyosis")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060877 "superficial epidermolytic ichthyosis")
AnnotationAssertion(oboInOwl:id obo:DOID_0060877 "DOID:0060877")
AnnotationAssertion(rdfs:label obo:DOID_0060877 "ichthyosis bullosa of Siemens"^^xsd:string)
SubClassOf(obo:DOID_0060877 obo:DOID_1697)

# Class: obo:DOID_0060878 (hypoparathyroidism-deafness-renal disease syndrome)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10935639") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/874665") obo:IAO_0000115 obo:DOID_0060878 "A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060878 "ICD10CM:Q87.8")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060878 "OMIM:146255")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060878 "ORDO:2237")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060878 "UMLS_CUI:C1840333")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060878 "Barakat syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060878 "HDR syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060878 "hypoparathyroidism, sensorineural deafness, and renal disease")
AnnotationAssertion(oboInOwl:id obo:DOID_0060878 "DOID:0060878")
AnnotationAssertion(rdfs:label obo:DOID_0060878 "hypoparathyroidism-deafness-renal disease syndrome"^^xsd:string)
SubClassOf(obo:DOID_0060878 obo:DOID_0060388)

# Class: obo:DOID_0060879 (primary hypomagnesemia)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18818955") obo:IAO_0000115 obo:DOID_0060879 "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060879 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060879 "OMIM:PS602014")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060879 "ORDO:34526")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060879 "HOMG")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060879 "primary familial hypomagnesemia")
AnnotationAssertion(oboInOwl:id obo:DOID_0060879 "DOID:0060879")
AnnotationAssertion(rdfs:label obo:DOID_0060879 "primary hypomagnesemia"^^xsd:string)
SubClassOf(obo:DOID_0060879 obo:DOID_896)

# Class: obo:DOID_0060880 (renal hypomagnesemia 3)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10390358") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16501001") obo:IAO_0000115 obo:DOID_0060880 "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060880 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060880 "OMIM:248250")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060880 "ORDO:31043")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "FHHNC without severe ocular involvement")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "HOMG3")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "isolated renal hypomagnesemia")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "primary hypomagnesemia due to defect in renal tubular transport of magnesium")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060880 "renal hypomagnesemia type 3")
AnnotationAssertion(oboInOwl:id obo:DOID_0060880 "DOID:0060880")
AnnotationAssertion(rdfs:label obo:DOID_0060880 "renal hypomagnesemia 3"^^xsd:string)
SubClassOf(obo:DOID_0060880 obo:DOID_0060879)

# Class: obo:DOID_0060881 (renal hypomagnesemia 5 with ocular involvement)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17033971") obo:IAO_0000115 obo:DOID_0060881 "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060881 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060881 "OMIM:248190")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060881 "ORDO:2196")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060881 "UMLS_CUI:C2931121")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060881 "FHHNC with severe ocular involvement")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060881 "Meier-Blumberg-Imahorn syndrome")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060881 "bilateral macular coloboma with hypercalciuria")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060881 "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060881 "hypercalciuria-bilateral macular coloboma syndrome")
AnnotationAssertion(oboInOwl:id obo:DOID_0060881 "DOID:0060881")
AnnotationAssertion(rdfs:label obo:DOID_0060881 "renal hypomagnesemia 5 with ocular involvement"^^xsd:string)
SubClassOf(obo:DOID_0060881 obo:DOID_0060879)

# Class: obo:DOID_0060882 (renal hypomagnesemia 4)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12584272") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/17671655") obo:IAO_0000115 obo:DOID_0060882 "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060882 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060882 "OMIM:611718")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060882 "ORDO:34527")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060882 "HOMG4")
AnnotationAssertion(oboInOwl:id obo:DOID_0060882 "DOID:0060882")
AnnotationAssertion(rdfs:label obo:DOID_0060882 "renal hypomagnesemia 4"^^xsd:string)
SubClassOf(obo:DOID_0060882 obo:DOID_0060879)

# Class: obo:DOID_0060883 (intestinal hypomagnesemia 1)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032568") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/12032570") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/18818955") obo:IAO_0000115 obo:DOID_0060883 "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060883 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060883 "OMIM:602014")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060883 "ORDO:30924")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "HOMG1")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "hypomagnesemia caused by selective magnesium malabsorption")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "hypomagnesemia intestinal type 1")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "hypomagnesemic tetany")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "intestinal hypomagnesemia with secondary hypocalcemia")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060883 "primary hypomagnesemia with secondary hypocalcemia")
AnnotationAssertion(oboInOwl:id obo:DOID_0060883 "DOID:0060883")
AnnotationAssertion(rdfs:label obo:DOID_0060883 "intestinal hypomagnesemia 1"^^xsd:string)
SubClassOf(obo:DOID_0060883 obo:DOID_0060879)

# Class: obo:DOID_0060884 (renal hypomagnesemia 6)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21397062") obo:IAO_0000115 obo:DOID_0060884 "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060884 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060884 "OMIM:613882")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060884 "ORDO:34527")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060884 "HOMG6")
AnnotationAssertion(oboInOwl:id obo:DOID_0060884 "DOID:0060884")
AnnotationAssertion(rdfs:label obo:DOID_0060884 "renal hypomagnesemia 6"^^xsd:string)
SubClassOf(obo:DOID_0060884 obo:DOID_0060879)

# Class: obo:DOID_0060885 (renal hypomagnesemia 2)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11062458") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/3298795") obo:IAO_0000115 obo:DOID_0060885 "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060885 "ICD10CM:E83.4")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060885 "OMIM:154020")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060885 "ORDO:34528")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060885 "HOMG2")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060885 "autosomal dominant primary hypomagnesemia with hypocalciuria")
AnnotationAssertion(oboInOwl:id obo:DOID_0060885 "DOID:0060885")
AnnotationAssertion(rdfs:label obo:DOID_0060885 "renal hypomagnesemia 2"^^xsd:string)
SubClassOf(obo:DOID_0060885 obo:DOID_0060879)

# Class: obo:DOID_0070001 (neoplastic disease)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Neoplasm"^^xsd:string) obo:IAO_0000115 obo:DOID_0070001 "A disease of cellular proliferation that results in an abnormal mass of tissue."^^xsd:string)
Expand Down Expand Up @@ -80533,11 +80664,15 @@ AnnotationAssertion(owl:deprecated obo:DOID_1695 "true"^^xsd:boolean)

# Class: obo:DOID_1697 (ichthyosis)

AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/HP_0008064") Annotation(oboInOwl:hasDbXref "url:http://www.dermnetnz.org/topics/ichthyosis/") Annotation(oboInOwl:hasDbXref "url:https://en.wikipedia.org/wiki/Ichthyosis") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK1420/") obo:IAO_0000115 obo:DOID_1697 "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1697 "MSH:D007057")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1697 "ORDO:79354")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_1697 "ichthyoses"^^xsd:string)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_1697 "non-syndromic ichthyosis")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_1697 "disease_ontology"^^xsd:string)
AnnotationAssertion(oboInOwl:id obo:DOID_1697 "DOID:1697"^^xsd:string)
AnnotationAssertion(rdfs:label obo:DOID_1697 "ichthyosis"^^xsd:string)
AnnotationAssertion(owl:deprecated obo:DOID_1697 "true"^^xsd:boolean)
SubClassOf(obo:DOID_1697 obo:DOID_37)

# Class: obo:DOID_1699 (congenital ichthyosiform erythroderma)

Expand Down

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