Rhizomelic chondrodysplasia punctata, type 3

Preferred Label : Rhizomelic chondrodysplasia punctata, type 3;

Symbol : RCDP3;

CISMeF acronym : RCDP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alkylglycerone-phosphate synthase deficiency; Agps deficiency; Alkyldihydroxyacetonephosphate synthase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alkylglycerone-phosphate synthase gene (AGPS, 603051.0001);

Laboratory abnormalities : Absent alkyl-DHAP synthase activity; Normal plasma phytanic acid; Decreased erythrocyte plasmalogen;

Prefixed ID : #600121;

Details

Origin ID

600121;

UMLS CUI

C1838612;

Broader ORDO disease(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
Currated CISMeF NLP mapping
- Rhizomelic chondrodysplasia punctata type 3 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 3 [MeSH concept]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]
- rhizomelic chondrodysplasia punctata, type 3 [MeSH Supplementary Concept]
DO Cross reference
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]
Genes related to phenotype
- Alkylglycerone-phosphate synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Epiphyseal stippling [HPO term]
- Failure to thrive [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short femur [HPO term]
- Short humerus [HPO term]
ORDO concept(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 3 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 3 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 3 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 3 [MeSH concept]
- rhizomelic chondrodysplasia punctata type 3 [DO Concept]
- rhizomelic chondrodysplasia punctata, type 3 [MeSH Supplementary Concept]

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