Achondrogenesis, type II

Preferred Label : Achondrogenesis, type II;

Symbol : ACG2;

CISMeF acronym : ACG2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Achondrogenesis, langer-saldino type; Chondrogenesis imperfecta; Achondrogenesis, type ib;

Included titles and symbols : Hypochondrogenesis;

Description : Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0002);

Prefixed ID : #200610;

Details

Origin ID

200610;

UMLS CUI

C0220685;

Automatic exact mappings (from CISMeF team)
- Achondrogenesis [ICD-10 Sub-category]
- Hypochondrogenesis [ORDO Disease]
- Hypochondrogenesis [ICD-11 Sub-sub category]
- Hypochondrogenesis (disorder) [SNOMED CT concept]
- achondrogenesis type 1B [MeSH Supplementary Concept]
- achondrogenesis type IB [DO Concept]
- achondrogenesis, type ib [SNOMED Notion]
- hypochondrogenesis [MeSH Supplementary Concept]
- hypochondrogenesis [DO Concept]
- hypochondrogenesis [MeSH concept]
Currated CISMeF NLP mapping
- Achondrogenesis type 2 [ICD-11 More detail]
- Achondrogenesis type 2 [MeSH concept]
- Achondrogenesis type 2 [ORDO Disease]
- Achondrogenesis, type II (disorder) [Inactive SNOMED CT concept]
- 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]
DO Cross reference
- achondrogenesis type II [DO Concept]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal foot morphology [HPO term]
- Absent vertebral body mineralization [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Broad long bones [HPO term]
- Cleft palate [HPO term]
- Cystic hygroma [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Edema [HPO term]
- Horizontal ribs [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplastic iliac wing [HPO term]
- Marked micromelic dwarfism [HPO term]
- Polyhydramnios [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Short trunk [HPO term]
- Short tubular bones of the hand [HPO term]
- Small iliac wings with concave inferior and medial margin [HPO term]
- Stillbirth [HPO term]
- Stillborn or death shortly after birth [HPO term]
- very short, broad tubular bones [HPO term]
Not associated HPO term(s)
- Abnormal clavicle morphology [HPO term]
ORDO concept(s)
- Achondrogenesis [ORDO Disease]
- Achondrogenesis type 2 [ORDO Disease]
- Hypochondrogenesis [ORDO Disease]
See also inter- (CISMeF)
- Achondrogenesis, type IB (disorder) [SNOMED CT concept]
- Hypochondroplasia [ICD-11 Sub-sub category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondrogenesis type 2 [ORDO Disease]
- Achondrogenesis type 2 [MeSH concept]
- Achondrogenesis type 2 [ICD-11 More detail]
- 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]

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