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What is Rhizomelic chondrodysplasia punctata, type 2?

What is Rhizomelic chondrodysplasia punctata, type 2?

  • Rhizomelic chondrodysplasia punctata, type 2: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.

Rhizomelic chondrodysplasia punctata, type 2: Introduction

Types of Rhizomelic chondrodysplasia punctata, type 2:

Broader types of Rhizomelic chondrodysplasia punctata, type 2:

What causes Rhizomelic chondrodysplasia punctata, type 2?

Causes of Rhizomelic chondrodysplasia punctata, type 2: see causes of Rhizomelic chondrodysplasia punctata, type 2

What are the symptoms of Rhizomelic chondrodysplasia punctata, type 2?

Symptoms of Rhizomelic chondrodysplasia punctata, type 2: see symptoms of Rhizomelic chondrodysplasia punctata, type 2

How is it treated?

Doctors and Medical Specialists for Rhizomelic chondrodysplasia punctata, type 2: Medical Geneticist ; see also doctors and medical specialists for Rhizomelic chondrodysplasia punctata, type 2.
Treatments for Rhizomelic chondrodysplasia punctata, type 2: see treatments for Rhizomelic chondrodysplasia punctata, type 2

Name and Aliases of Rhizomelic chondrodysplasia punctata, type 2

Main name of condition: Rhizomelic chondrodysplasia punctata, type 2

Other names or spellings for Rhizomelic chondrodysplasia punctata, type 2:

dihydroxyacetonephosphate acyl transferase deficiency, DHAPAT deficiency, glyceronephosphate O-Acyl transferase deficiency, GNPAT deficiency, peroxisomal dihydroxyacetonephosphate acyl transferase deficiency, chondrodysplasia punctate, rhizomelic, due to dihydroxyacetonephosphate acyl transferase deficiency, RCDP2, Type 2 rhizomelic chondrodysplasia punctata, Glyceronephosphate acyltransferase deficiency, Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency, Human dihydroxyacetonephosphate acyltransferase deficiency

 

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