autosomal recessive cutis laxa type 2A
An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
MONDO:0015286
congenital disorder of glycosylation
excluded_subClassOf
MONDO:0017752
defect in V-ATPase
excluded_subClassOf
MONDO:0018292
obsolete congenital disorder of glycosylation-related bone disorder (obsolete MONDO:0018292)
excluded_subClassOf
MONDO:0019058
obsolete neurometabolic disease (obsolete MONDO:0019058)
excluded_subClassOf
MONDO:0019573
autosomal recessive cutis laxa type 2
is_a
MONDO:0100118
hereditary skin disorder
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
ARCL2A
exact
autosomal recessive cutis laxa type 2A
exact
cutis laxa with Joint laxity and retarded development
exact
cutis laxa with bone dystrophy
exact
cutis laxa with congenital disorder of glycosylation
exact
cutis laxa with growth and developmental delay
exact
cutis laxa, autosomal recessive type 2A
exact
cutis laxa, autosomal recessive, type 2A
exact
cutis laxa, autosomal recessive, type IIA
exact
cutis laxa, debre type
exact
SPAC16E8.07c