Disease association ontology term - MONDO:0015338 - syndromic craniosynostosis
Term summary
ID
MONDO:0015338
Name
syndromic craniosynostosis
Ontology or CV name
Disease association
Definition
A craniosynostosis that is part of a larger syndrome.
Parents
is_a
syndromic disease
is_a
craniosynostosis
is_a
skeletal dysplasia
Annotation
Disease association
MONDO:0008726
-
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
References:
PB_REF:0000006
Genes:
ccr1 (SPBC29A10.01)
MONDO:0014558
-
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
References:
PB_REF:0000006
Genes:
mst2 (SPAC17G8.13c)
MONDO:0009039
-
Baller-Gerold syndrome
References:
PB_REF:0000006
Genes:
drc1 (SPAC6B12.11)
hrq1 (SPAC23A1.19c)
MONDO:0979883
-
cranioectodermal dysplasia 6
References:
PB_REF:0000006
Genes:
mde3 (SPBC8D2.19)
pit1 (SPAC3C7.06c)
MONDO:0013740
-
lethal occipital encephalocele-skeletal dysplasia syndrome
References:
PB_REF:0000006
Genes:
erg5 (SPAC19A8.04)
