Achondrogenesis, type ib

Preferred Label : Achondrogenesis, type ib;

Symbol : ACG1B;

CISMeF acronym : ACG1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Achondrogenesis, fraccaro type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 222600.0005);

Laboratory abnormalities : No cartilage staining with toluidine blue; Impaired synthesis of fibroblast sulfated proteoglycans;

Prefixed ID : #600972;

Détails

Origin ID

600972;

UMLS CUI

C0265274;

Currated CISMeF NLP mapping
- Achondrogenesis type 1B [ICD-11 More detail]
- Achondrogenesis type 1B [MeSH concept]
- Achondrogenesis type 1B [ORDO Disease]
- Achondrogenesis, type IB (disorder) [SNOMED CT concept]
- achondrogenesis type 1B [MeSH Supplementary Concept]
- achondrogenesis type IB [DO Concept]
- achondrogenesis, type ib [SNOMED Notion]
DO Cross reference
- achondrogenesis type IB [DO Concept]
Genes related to phenotype
- Solute carrier family 26 (sulfate transporter), member 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Absent or minimally ossified vertebral bodies [HPO term]
- Autosomal recessive inheritance [HPO term]
- Breech presentation [HPO term]
- Edema [HPO term]
- Flat face [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplastic ilia [HPO term]
- Inguinal hernia [HPO term]
- Malar flattening [HPO term]
- Micromelia [HPO term]
- Narrow chest [HPO term]
- Neonatal short-limb short stature [HPO term]
- Polyhydramnios [HPO term]
- Respiratory insufficiency [HPO term]
- Short ribs [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Achondrogenesis [ORDO Disease]
- Achondrogenesis type 1B [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondrogenesis type 1B [MeSH concept]
- Achondrogenesis type 1B [ORDO Disease]
- Achondrogenesis type 1B [ICD-11 More detail]
- Achondrogenesis, type IB (disorder) [SNOMED CT concept]
- achondrogenesis type 1B [MeSH Supplementary Concept]
- achondrogenesis type IB [DO Concept]
- achondrogenesis, type ib [SNOMED Notion]

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