Atelosteogenesis

Disease Term Disease ID Gene Symbol Classification References Source
ATELOSTEOGENESIS
C5574658
FLNB Unknown — Disgenet
SLC26A2 Unknown — Disgenet
ATELOSTEOGENESIS TYPE 2
C1850554MESH:C535395
FLNB Unknown — Disgenet
SLC26A2 Unknown — CTD Disgenet
ATELOSTEOGENESIS TYPE 3
C3668942
FLNB Unknown — Disgenet
SLC26A2 Unknown — Disgenet
ATELOSTEOGENESIS TYPE I
1190MONDO:0007167
FLNB Causal
14991055 23401428 24624349 20301736
ClinVar GWAS catalog Orphanet
ATELOSTEOGENESIS TYPE II
56304MONDO:0009727
SLC26A2 Causal
11457925 16642506 18708426 20301493 21077202 25373420 26077908 8571951 8931695 9342225 9575183
ClinVar Disgenet Orphanet
ATELOSTEOGENESIS TYPE III
56305MONDO:0007168
FLNB Causal
14991055
ClinVar Disgenet Orphanet
ATELOSTEOGENESIS, TYPE 1
C0265283MESH:C535396
FLNB Unknown
14991055
CTD Disgenet
SLC26A2 Unknown — Disgenet
ATELOSTEOGENESIS, TYPE I
108720
FLNB Unknown — HPO
ATELOSTEOGENESIS, TYPE II
256050
SLC26A2 Unknown — HPO
ATELOSTEOGENESIS, TYPE III
108721OMIM:108721
FLNB Unknown
14991055
CTD HPO