Disease #00695 (OSMEDB (Otospondylomegaepiphyseal dysplasia, autosomal recessive), OMIM:215150)

Official abbreviation OSMEDB
Name Otospondylomegaepiphyseal dysplasia, autosomal recessive
OMIM ID 215150
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 2 genes COL11A2, COL2A1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00024712 - - - F no Japan - - 0 - - OSMEDB - COL2A1 COL2A1 1 1 Isabelle Touitou
00250195 - - - M - Iran - - 0 - - OSMEDB - DDR2 DDR2 1 1 Masoud Heidari
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