Brachyolmia

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT BRACHYOLMIA
93304MONDO:0007232
TRPV4 Unknown
18587396 24830047
GenCC Orphanet
AUTOSOMAL RECESSIVE BRACHYOLMIA
448242MONDO:0018662C4760908
PAPSS2 Causal
22791835
Disgenet Orphanet
BRACHYOLMIA
C0432228MESH:C537098MONDO:0015262
PAPSS2 Causal — Disgenet
LTBP3 Unknown
25669657
CTD Disgenet
TRPV4 Unknown
18587396 18762026 19790068 20605796 21964574 22791502 24577120 24644033 24677493
GenCC
BRACHYOLMIA TYPE 3
113500C0432227MESH:C562963
TRPV4 Unknown — CTD Disgenet HPO
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
612847
PAPSS2 Unknown — HPO
BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME
2899MONDO:0011018
LTBP3 Causal
25669657
ClinVar GWAS catalog Orphanet