22q13 deletion syndrome

human disease

Wikidata entity: Q1926345

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18048003 (SHANK3) SHANK3
P1995 health specialty ... Q7162 (genetics) genetics
P1692 ICD-9-CM String 758.39 ???
P667 ICPC 2 ID String A90 ???
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q112193867 (class of disease) class of disease
P138 named after ... Q125458324 (Katy Phelan) Katy Phelan
P138 named after ... Q56441403 (Joann M. McDermid) Joann M. McDermid
P1748 NCI Thesaurus ID String C157124 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q12136 (disease) disease
P279 subclass of ... Q16918398 (chromosomal deletion syndrome) chromosomal deletion syndrome
P279 subclass of ... Q55785866 (genetic syndromic intellectual disability) genetic syndromic intellectual disability
P279 subclass of ... Q55786629 (partial deletion of the long arm of chromosome 22) partial deletion of the long arm of chromosome 22
External Ids
P699Disease Ontology IDDOID:0080354
P557DiseasesDB34793
P646Freebase ID/m/0fnvc2
P4317GARD rare disease ID10130
P494ICD-10 IDQ93
P4229ICD-10-CMQ93.5
P7807ICD-11 ID (Foundation)1667492731
P665KEGG IDH01238
P486MeSH descriptor IDC536801
P6366Microsoft Academic ID (discontinued)2779228235
P5270Mondo IDMONDO_0011652
P492OMIM ID606232
P492OMIM ID606232
P1550Orphanet ID48652
P4233PatientsLikeMe condition IDphelan-mcdermid-syndrome
P2892UMLS CUIC1853490
P2892UMLS CUIC2931332
P11430UniProt disease IDDI-03945
P11143WikiProjectMed ID22q13 deletion syndrome

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