Disease association ontology term - MONDO:0013889 - short stature-optic atrophy-Pelger-Huët anomaly syndrome
Term summary
ID
MONDO:0013889
Name
short stature-optic atrophy-Pelger-Huët anomaly syndrome
Ontology or CV name
Disease association
Parents
is_a
osteogenesis imperfecta and a reduction of bone mineral density.
Annotation
Disease association
MONDO:0013889
-
short stature-optic atrophy-Pelger-Huët anomaly syndrome
References:
PB_REF:0000006
Genes:
sec39 (SPAC7D4.11c)