Disease association ontology term - MONDO:0016761 - spondyloepiphyseal dysplasia
Term summary
ID
MONDO:0016761
Name
spondyloepiphyseal dysplasia
Ontology or CV name
Disease association
Definition
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
Parents
is_a
osteochondrodysplasia
Annotation
Disease association
MONDO:0054560
-
anauxetic dysplasia 1
References:
PB_REF:0000006
Genes:
mrp1 (SPNCRNA.82)
MONDO:0054561
-
anauxetic dysplasia 2
References:
PB_REF:0000006
Genes:
pop100 (SPAC25B8.16)
MONDO:0030019
-
anauxetic dysplasia 3
References:
PB_REF:0000006
Genes:
rmp1 (SPAC323.08)
MONDO:0014455
-
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
References:
PB_REF:0000006
Genes:
ism1 (SPCC18B5.08c)
MONDO:0010879
-
CODAS syndrome
References:
PB_REF:0000006
Genes:
lon1 (SPAC22F3.06c)
MONDO:0012873
-
Ehlers-Danlos syndrome, spondylocheirodysplastic type
References:
PB_REF:0000006
Genes:
zip3 (SPAP8A3.03)
MONDO:0014801
-
even-plus syndrome
References:
PB_REF:0000006
Genes:
ssc1 (SPAC664.11)
MONDO:0008471
-
spondyloepiphyseal dysplasia congenita
References:
PB_REF:0000003
Genes:
trs20 (SPBC11G11.04)
MONDO:0010737
-
spondyloepiphyseal dysplasia tarda, X-linked
References:
PB_REF:0000006
Genes:
trs20 (SPBC11G11.04)
MONDO:0979899
-
spondyloepiphyseal dysplasia, Holling type
References:
PB_REF:0000006
Genes:
sec20 (SPAC23A1.15c)
MONDO:0013870
-
TMEM165-congenital disorder of glycosylation
References:
PB_REF:0000006
Genes:
gdt1 (SPAC186.05c)
gdt2 (SPAC17G8.08c)
MONDO:0009192
-
Wolcott-Rallison syndrome
References:
PB_REF:0000006
Genes:
hri1 (SPAC20G4.03c)
hri2 (SPAC222.07c)
