Acromesomelic dysplasia 2a

Preferred Label : Acromesomelic dysplasia 2a;

Symbol : AMD2A;

CISMeF acronym : AMDG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Grebe chondrodysplasia; Acromesomelic dysplasia, grebe type; Achondrogenesis, type II; Achondrogenesis, brazilian; Grebe dysplasia; AMDG; Chondrodysplasia, grebe type;

Description : Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0003);

Prefixed ID : #200700;

Détails

Origin ID

200700;

UMLS CUI

C0265260;

Currated CISMeF NLP mapping
- Acromesomelic dysplasia, Grebe type [ICD-11 More detail]
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Chondrodysplasia, Grebe type [MeSH concept]
- Grebe syndrome (disorder) [SNOMED CT concept]
- Grebe type chondrodysplasia [PASCAL descriptor]
- acromesomelic dysplasia, Grebe type [DO Concept]
- chondrodysplasia, grebe type [MeSH Supplementary Concept]
- grebe syndrome [SNOMED Notion]
DO Cross reference
- acromesomelic dysplasia, Grebe type [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Acromesomelia [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Aplasia/Hypoplasia of metatarsal bones [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Fibular hypoplasia [HPO term]
- Flexion contracture [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Pes valgus [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short digit [HPO term]
- Short feet [HPO term]
- Short femur [HPO term]
- Short foot [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short limb dwarfism [HPO term]
- Short phalanx of finger [HPO term]
- Short tibia [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Stillborn or death in infancy [HPO term]
- Valgus hand deformity [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
See also inter- (CISMeF)
- Achondrogenesis, type II (disorder) [SNOMED CT concept]
- Type II Achondrogenesis [NCIt concept]
- achondrogenesis type 2 [MeSH Supplementary Concept]
- achondrogenesis type II [DO Concept]
- achondrogenesis, type ii [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Acromesomelic dysplasia, Grebe type [ICD-11 More detail]
- Chondrodysplasia, Grebe type [MeSH concept]
- Grebe syndrome (disorder) [SNOMED CT concept]
- acromesomelic dysplasia, Grebe type [DO Concept]
- chondrodysplasia, grebe type [MeSH Supplementary Concept]
- grebe syndrome [SNOMED Notion]

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