atelosteogenesis

human disease

Wikidata entity: Q18553377

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q17928818 (FLNB) FLNB
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55789477 (head and neck disease) head and neck disease
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q3251367 (osteochondrodysplasia) osteochondrodysplasia
P279 subclass of ... Q7577457 (spinal disease) spinal disease
P279 subclass of ... Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) multiple congenital anomalies/dysmorphic syndrome-intellectual disability
P279 subclass of ... Q55785394 (Pierre robin syndrome associated with bone disease) Pierre robin syndrome associated with bone disease
P279 subclass of ... Q55785866 (genetic syndromic intellectual disability) genetic syndromic intellectual disability
P279 subclass of ... Q55788802 (filamin-related bone disorder) filamin-related bone disorder
P279 subclass of ... Q55788812 (primary bone dysplasia with multiple joint dislocations) primary bone dysplasia with multiple joint dislocations
External Ids
P699Disease Ontology IDDOID:0050648
P4229ICD-10-CMQ78.8
P486MeSH descriptor IDC579928
P5270Mondo IDMONDO_0007168
P492OMIM ID108721
P492OMIM ID108721
P492OMIM ID108720
P492OMIM ID108720
P492OMIM ID256050
P492OMIM ID256050
P1550Orphanet ID56305
P2892UMLS CUIC1862414
P2892UMLS CUIC3668942

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