Disease association ontology term - MONDO:0100237 - inherited cutis laxa
Term summary
ID
MONDO:0100237
Name
inherited cutis laxa
Ontology or CV name
Disease association
Definition
An instance of cutis laxa that is inherited.
Parents
is_a
hereditary disease
is_a
cutis laxa
Annotation
Disease association
MONDO:0009053
-
ALDH18A1-related de Barsy syndrome
References:
PB_REF:0000006
Genes:
pro1 (SPAC821.11)
pro2 (SPAC17H9.13c)
MONDO:0018163
-
autosomal recessive cutis laxa type 2A
References:
PB_REF:0000006
Genes:
vph1 (SPAC16E8.07c)
MONDO:0013051
-
autosomal recessive cutis laxa type 2B
References:
PB_REF:0000006
Genes:
pro3 (SPAPYUG7.05)
MONDO:0027462
-
autosomal recessive cutis laxa type 2C
References:
PB_REF:0000006
Genes:
vma4 (SPAC11E3.07)
MONDO:0027451
-
autosomal recessive cutis laxa type 2D
References:
PB_REF:0000006
Genes:
vma1 (SPAC343.05)
MONDO:0014706
-
cutis laxa, autosomal dominant 3
References:
PB_REF:0000006
Genes:
pro1 (SPAC821.11)
pro2 (SPAC17H9.13c)
MONDO:0010572
-
occipital horn syndrome
References:
PB_REF:0000006
Genes:
ccc2 (SPBC29A3.01)
MONDO:0013755
-
PYCR1-related de Barsy syndrome
References:
PB_REF:0000006
Genes:
pro3 (SPAPYUG7.05)
MONDO:0010208
-
wrinkly skin syndrome
References:
PB_REF:0000006
Genes:
vph1 (SPAC16E8.07c)
