osteoglophonic dwarfism

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth

Wikidata entity: Q55781317



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 ... Q14914258 (FGFR1) FGFR1
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
P279 subclass of ... Q55788820 (primary bone dysplasia with disorganized development of skeletal components) primary bone dysplasia with disorganized development of skeletal components
P279 subclass of ... Q3251367 (osteochondrodysplasia) osteochondrodysplasia

External Ids
P699Disease Ontology IDDOID:0111532
P4317GARD rare disease ID4142
P7464Genetics Home Reference Conditions IDosteoglophonic-dysplasia
P4229ICD-10-CMQ87.1
P665KEGG IDH00443
P486MeSH descriptor IDC536050
P5270Mondo IDMONDO_0008150
P492OMIM ID166250
P492OMIM ID166250
P1550Orphanet ID2645
P2892UMLS CUIC0432283
P11430UniProt disease IDDI-02110

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