Schmid metaphyseal chondrodysplasia

metaphyseal dysplasia that results in dwarfism and bowed legs

Wikidata entity: Q2964434



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q5145893 (COL10A1) COL10A1
P6532 has phenotype ... Q194101 (dwarfism) dwarfism
P6532 has phenotype ... Q13566985 (metaphyseal dysplasia) metaphyseal dysplasia
P1995 health specialty ... Q216685 (orthopedics) orthopedics
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
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q13566985 (metaphyseal dysplasia) metaphyseal dysplasia
P279 subclass of ... Q55762930 (metaphyseal chondrodysplasia) metaphyseal chondrodysplasia
P279 subclass of ... Q55788805 (multiple metaphyseal dysplasia) multiple metaphyseal dysplasia

External Ids
P699Disease Ontology IDDOID:0080021
P4317GARD rare disease ID7029
P4229ICD-10-CMQ78.5
P486MeSH descriptor IDC537352
P6366Microsoft Academic ID (discontinued)2780699192
P5270Mondo IDMONDO_0007983
P492OMIM ID156500
P492OMIM ID156500
P1550Orphanet ID174
P2892UMLS CUIC0265289
P11430UniProt disease IDDI-02285
P11143WikiProjectMed IDMetaphyseal chondrodysplasia Schmid type

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