Disease Browser
Parent Node: Chondrodysplasia Punctata (D002806) Parent Node: Peroxisomal Disorders (D018901) ..Starting node .. Chondrodysplasia Punctata, Rhizomelic (D018902) Child Nodes:
........Rhizomelic chondrodysplasia punctata, type 1 (C531651) ........Rhizomelic chondrodysplasia punctata, type 2 (C537607) ........Rhizomelic chondrodysplasia punctata, type 3 (C537608) Sister Nodes: ..Acatalasia (D020642) ..Adrenoleukodystrophy (D000326) 4 ..Bile acid synthesis defect, congenital, 4 (C535444) ..Chondrodysplasia Punctata, Rhizomelic (D018902) 3 ..Mevalonate Kinase Deficiency (D054078) ..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568) ..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634) ..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405) ..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625) ..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964) ..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633) ..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301) ..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422) ..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387) ..Peroxisome Biogenesis Disorder, Complementation Group D (C566388) ..Peroxisome Biogenesis Disorder, Complementation Group E (C566569) ..Peroxisome Biogenesis Disorder, Complementation Group G (C566406) ..Peroxisome Biogenesis Disorder, Complementation Group H (C566626) ..Peroxisome Biogenesis Disorder, Complementation Group J (C563965) ..Peroxisome Biogenesis Disorder, Complementation Group K (C566624) ..Peroxisome Biogenesis Disorder, Complementation Group R (C566635) ..Peroxisome biogenesis disorders (C536664) ..Refsum Disease (D012035) 4 ..Refsum Disease, Infantile (D052919) ..Zellweger Syndrome (D015211) 3 Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 2135
Name: Chondrodysplasia Punctata, Rhizomelic
Definition: 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)
Alternative IDs:
ParentIDs: MESH:D002806|MESH:D018901
TreeNumbers: C05.116.099.708.195.200 |C16.320.565.663.200 |C18.452.648.663.200
Synonyms: Chondrodysplasia Punctata, Rhizomelic Form |Chondrodysplasia Punctatas, Rhizomelic |Punctata, Rhizomelic Chondrodysplasia |Punctatas, Rhizomelic Chondrodysplasia |Rhizomelic Chondrodysplasia Punctata |Rhizomelic Chondrodysplasia Punctatas
Slim Mappings: Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease
Reference:
MedGen: D018902
MeSH: D018902
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants