Q1031536: Difference between revisions

@@ label / fr / label / fr @@
-Dysplasie campomélique
+dysplasie campomélique
@@ label / en / label / en @@
-Campomelic dysplasia
+campomelic dysplasia
@@ label / nl / label / nl @@
-Campomele dysplasie
+campomele dysplasie
@@ label / it / label / it @@
-Sindrome camptomelica
+sindrome camptomelica
@@ label / es / label / es @@
+displasia campomélica
@@ label / ca / label / ca @@
+displàsia campomèlica
@@ label / tr / label / tr @@
+Kampomelik displazi
@@ label / bs / label / bs @@
+Kampomelna displazija
@@ label / sr / label / sr @@
+Кампомелични синдром
@@ aliases / it / 0 / aliases / it / 0 @@
+camptomelia
@@ aliases / it / 1 / aliases / it / 1 @@
-Camptomelia
@@ aliases / en / 0 / aliases / en / 0 @@
+Acampomelic Campomelic Dysplasia
@@ aliases / es / 0 / aliases / es / 0 @@
+Displasia campomelica
@@ description / en / description / en @@
+osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur
@@ description / it / description / it @@
+malattia umana
@@ description / de / description / de @@
+Krankheit
@@ description / uk / description / uk @@
+хвороба
@@ Property / OMIM ID: 114290 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / OMIM ID: 114290 / reference @@
-imported from Wikimedia project: English Wikipedia
@@ Property / OMIM ID: 114290 / reference @@
-imported from Wikimedia project: Disease Ontology
stated in: Disease ontology release 2015-04-16
retrieved: 28 April 2015Timestamp +2015-04-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2015-04-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Disease Ontology ID: DOID:0050463 / reference @@
+stated in: Disease Ontology
retrieved: 30 November 2020Timestamp +2020-11-30T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2020-11-30T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Disease Ontology ID: DOID:0050463 / reference @@
-imported from Wikimedia project: Disease Ontology
stated in: Disease ontology release 2015-04-16
retrieved: 28 April 2015Timestamp +2015-04-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2015-04-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / MeSH descriptor ID @@
-D055036
@@ Property / MeSH descriptor ID: D055036 / rank @@
-Normal rank
@@ Property / MeSH descriptor ID: D055036 / reference @@
-imported from Wikimedia project: Disease Ontology
stated in: Disease ontology release 2015-04-16
retrieved: 28 April 2015Timestamp +2015-04-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2015-04-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / subclass of @@
-disease
@@ Property / subclass of: disease / rank @@
-Normal rank
@@ Property / subclass of @@
+osteochondrodysplasia
@@ Property / subclass of: osteochondrodysplasia / rank @@
+Normal rank
@@ Property / subclass of: osteochondrodysplasia / reference @@
+stated in: Disease Ontology
retrieved: 30 November 2020Timestamp +2020-11-30T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2020-11-30T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / subclass of @@
+bent bone dysplasia
@@ Property / subclass of: bent bone dysplasia / rank @@
+Normal rank
@@ Property / subclass of @@
+autosomal dominant disease
@@ Property / subclass of: autosomal dominant disease / rank @@
+Normal rank
@@ Property / subclass of: autosomal dominant disease / reference @@
+stated in: Disease Ontology
retrieved: 30 November 2020Timestamp +2020-11-30T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2020-11-30T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / NCI Thesaurus ID @@
+C84609
@@ Property / NCI Thesaurus ID: C84609 / rank @@
+Normal rank
@@ Property / NCI Thesaurus ID: C84609 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / NCI Thesaurus ID @@
+C120205
@@ Property / NCI Thesaurus ID: C120205 / rank @@
+Normal rank
@@ Property / NCI Thesaurus ID: C120205 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / health specialty @@
+medical genetics
@@ Property / health specialty: medical genetics / rank @@
+Normal rank
@@ Property / exact match @@
+http://purl.obolibrary.org/obo/DOID_0050463
@@ Property / exact match: http://purl.obolibrary.org/obo/DOID_0050463 / rank @@
+Normal rank
@@ Property / exact match: http://purl.obolibrary.org/obo/DOID_0050463 / reference @@
+stated in: Disease Ontology
retrieved: 30 November 2020Timestamp +2020-11-30T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2020-11-30T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / exact match @@
+http://identifiers.org/doid/DOID:0050463
@@ Property / exact match: http://identifiers.org/doid/DOID:0050463 / rank @@
+Normal rank
@@ Property / exact match: http://identifiers.org/doid/DOID:0050463 / reference @@
+stated in: Identifiers.org
reference URL: https://registry.identifiers.org/registry/doid
@@ Property / UMLS CUI @@
+C1861922
@@ Property / UMLS CUI: C1861922 / rank @@
+Normal rank
@@ Property / UMLS CUI: C1861922 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / UMLS CUI @@
+C1861923
@@ Property / UMLS CUI: C1861923 / rank @@
+Normal rank
@@ Property / UMLS CUI: C1861923 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / instance of @@
+rare disease
@@ Property / instance of: rare disease / rank @@
+Normal rank
@@ Property / instance of @@
+class of disease
@@ Property / instance of: class of disease / rank @@
+Normal rank
@@ Property / GARD rare disease ID @@
@@ Property / GARD rare disease ID: 10027 / rank @@
+Normal rank
@@ Property / GARD rare disease ID: 10027 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / BabelNet ID @@
+03674371n
@@ Property / BabelNet ID: 03674371n / rank @@
+Normal rank
@@ Property / BabelNet ID: 03674371n / reference @@
+stated in: BabelNet
@@ Property / Orphanet ID @@
@@ Property / Orphanet ID: 140 / rank @@
+Normal rank
@@ Property / Orphanet ID: 140 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / MeSH descriptor ID @@
+D055036
@@ Property / MeSH descriptor ID: D055036 / rank @@
+Normal rank
@@ Property / MeSH descriptor ID: D055036 / reference @@
+stated in: Disease Ontology
retrieved: 28 August 2019Timestamp +2019-08-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Disease Ontology ID: DOID:0050463
-Timestamp
++2019-08-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / MeSH tree code @@
+C05.660.142
@@ Property / MeSH tree code: C05.660.142 / rank @@
+Normal rank
@@ Property / MeSH tree code @@
+C16.131.621.142
@@ Property / MeSH tree code: C16.131.621.142 / rank @@
+Normal rank
@@ Property / genetic association @@
+SOX9
@@ Property / genetic association: SOX9 / rank @@
+Normal rank
@@ Property / genetic association: SOX9 / reference @@
+stated in: Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
@@ Property / genetic association: SOX9 / reference @@
+stated in: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
@@ Property / genetic association: SOX9 / reference @@
+stated in: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
@@ Property / Commons category @@
+Campomelic dysplasia
@@ Property / Commons category: Campomelic dysplasia / rank @@
+Normal rank
@@ Property / Microsoft Academic ID @@
+2779572493
@@ Property / Microsoft Academic ID: 2779572493 / rank @@
+Normal rank
@@ Property / on focus list of Wikimedia project @@
+WikiProject Medicine
@@ Property / on focus list of Wikimedia project: WikiProject Medicine / rank @@
+Normal rank
@@ Property / KEGG ID @@
+H00442
@@ Property / KEGG ID: H00442 / rank @@
+Normal rank
@@ Property / Genetics Home Reference Conditions ID @@
+campomelic-dysplasia
@@ Property / Genetics Home Reference Conditions ID: campomelic-dysplasia / rank @@
+Normal rank
@@ Property / image @@
+Kyphoscoliosis hereditary sensory autonomic neuropathy III.jpg
+Normal rank
@@ Property / UniProt disease ID @@
+DI-01311
@@ Property / UniProt disease ID: DI-01311 / rank @@
+Normal rank
@@ Property / WikiProjectMed ID @@
+Campomelic dysplasia
@@ Property / WikiProjectMed ID: Campomelic dysplasia / rank @@
+Normal rank
@@ Property / Mondo ID @@
+MONDO_0007251
@@ Property / Mondo ID: MONDO_0007251 / rank @@
+Normal rank
@@ Property / Miraheze article ID @@
+lgbta:Campomelic_Dysplasia
@@ Property / Miraheze article ID: lgbta:Campomelic_Dysplasia / rank @@
+Normal rank
@@ links / dewiki / name / links / dewiki / name @@
-Campomele-Dysplasie
+Kampomele Dysplasie
@@ links / kowiki / name / links / kowiki / name @@
-굴지 형성이상
@@ links / eswiki / name / links / eswiki / name @@
+Displasia campomélica
@@ links / commonswiki / name / links / commonswiki / name @@
+Category:Campomelic dysplasia
@@ links / trwiki / name / links / trwiki / name @@
+Kampomelik displazi
@@ links / bswiki / name / links / bswiki / name @@
+Kampomelna displazija
@@ links / srwiki / name / links / srwiki / name @@
+Кампомелични синдром