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cherubism

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Human disease

Välised allikad

Freebase
/m/081994[1]
Microsoft Academic ID
2777134543
MeSH descriptor ID
D002636[2]

teema nimetus kujul: Cherubism

mapping relation type: täpne vaste

Quora topic ID
Cherubism[3]
eMedicine ID
389714
KEGG ID
H00497
UniProt disease ID
DI-00296
DiseasesDB
31217
Orphanet ID
184[4]

mapping relation type: täpne vaste

Disease Ontology ID
DOID:1856[5]
Genetics Home Reference Conditions ID
cherubism
MedlinePlus ID
001234
MeSH tree code
C05.116.099.708.375.199
C05.500.174
C07.320.173
C16.131.621.207.540.170
C16.320.170
WikiSkripta article ID
20988
UMLS CUI
C0008029[6]
GARD rare disease ID
6036[4][6]
ICD-11 ID (MMS)
LD24.22

teema nimetus kujul: Cherubism

ICD-10-CM
M27.8[6][4]
K10.8[4]
OMIM ID
118400[6]
WikiProjectMed ID
Cherubism
ICD-9 ID
526.89
ICD-11 (foundation)
1729261719
OpenAlex ID
C2777134543[7]
Mondo ID
MONDO_0007315

üksikjuht nähtusest

developmental defect during embryogenesis[4]
rare disease
class of disease

mille alamklass

autosomal dominant disease[5]
jaw disease
primary bone dysplasia with disorganized development of skeletal components[4]
hereditary neoplastic syndromes[4]
genetic systemic or rheumatologic disease[4]
autoinflammatory syndrome with immune deficiency[4]
rare disease with odontological manifestation[4]
multiple congenital anomalies/dysmorphic syndrome without intellectual disability[4]
skin disease[5]
haigus

meditsiiniline eriala

medical genetics
oral and maxillofacial surgery
Reumatoloogia

genetic association

SH3BP2[8][9][10]

Wikimedia projekti fookusnimekiri

Vikipeedia:Vikiprojekt Meditsiin

ICD-9-CM

526.89[4]

NCI Thesaurus ID

C84630[6]

täpne vaste

http://purl.obolibrary.org/obo/DOID_1856[5]
http://identifiers.org/doid/DOID:1856[11]
http://www.orpha.net/ORDO/Orphanet_184

Commonsi kategooria

Cherubism

Viited

  1. ↑ Freebase Data Dumps, 28. oktoober 2013
  2. ↑ Monarch Disease Ontology release 2018-06-29, MONDO_0007315, 28. juuli 2018
  3. ↑ Quora
  4. ↑ 4,00 4,01 4,02 4,03 4,04 4,05 4,06 4,07 4,08 4,09 4,10 4,11 Monarch Disease Ontology release 2018-06-29, 28. juuli 2018, MONDO_0007315
  5. ↑ 5,0 5,1 5,2 5,3 Disease Ontology, 30. november 2020, DOID:1856
  6. ↑ 6,0 6,1 6,2 6,3 6,4 Disease Ontology, 15. mai 2019, DOID:1856
  7. ↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
  8. ↑ P78314, 13. august 2019, UniProt
  9. ↑ Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
  10. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000087266/MONDO_0007315, inferred from an Open Targets association score over 0.7
  11. ↑ Identifiers.org, https://registry.identifiers.org/registry/doid
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q568865"