thanatophoric dysplasia type 1
Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
MONDO:0014658
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0017042
thanatophoric dysplasia
is_a
PLSD San Diego type
related
TD1
exact
thanatophoric dwarfism 1
related
thanatophoric dwarfism type 1
exact
thanatophoric dysplasia type I
related
thanatophoric dysplasia, type 1
exact
thanatophoric dysplasia, type I
related
type 1 thanatophoric dysplasia
exact