Preferred Label : Achondrogenesis, type ia;
Symbol : ACG1A;
CISMeF acronym : ACG1A;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Achondrogenesis, houston-harris type;
Description : The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia
in humans, invariably lethal before or shortly after birth. Achondrogenesis type I,
as described by Parenti (1936) and by Fraccaro (1952), is a severe chondrodystrophy
characterized radiographically by deficient ossification in the lumbar vertebrae and
absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth
or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe
micromelia, there is a disproportionately large cranium due to marked edema of soft
tissues.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 11 gene (TRIP11, 604505.0001);
Prefixed ID : #200600;
Origin ID : 200600;
UMLS CUI : C0265273;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)