01
Diseases
Chondrodysplasia Punctata, Rhizomelic
chondrodysplasia punctata, rhizomelic
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Chondrodysplasia Punctata, Rhizomelic
- Standard Disease Name
- chondrodysplasia punctata, rhizomelic
- MeSH Tree
- No data
- ICD-10
- E71.540
Identifiers
- DO ID
- No data
- MeSH ID
- D018902
- OMIM ID
- 215100
- UMLS ID
- C0282529
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.|MSH2017_2016_08_12:An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)