short stature-brachydactyly-obesity-global developmental delay syndrome

human disease

Wikidata entity: Q55785133



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18041046 (PRMT7) PRMT7
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P279 subclass of ... Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) multiple congenital anomalies/dysmorphic syndrome-intellectual disability
P279 subclass of ... Q55785866 (genetic syndromic intellectual disability) genetic syndromic intellectual disability
P279 subclass of ... Q55786310 (syndromic obesity) syndromic obesity
P279 subclass of ... Q55788807 (acromelic dysplasia) acromelic dysplasia

External Ids
P5270Mondo IDMONDO_0014944
P492OMIM ID617157
P492OMIM ID617157
P1550Orphanet ID464288
P2892UMLS CUIC4310689
P2892UMLS CUIC5568868
P11430UniProt disease IDDI-04865

Why not click here or view trends?

log id: 5675248