Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent...
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skeletal changes.: 500 : 549 Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked recessive chondrodysplasia punctata 302950 Conradi–Hünermann...
2 KB (113 words) - 04:48, 30 October 2023
Rhizomelia (redirect from Rhizomelic)
examples of Rhizomelic short stature are achondroplasia and pseudoachondroplasia. Amelia (birth defect) Rhizomelic chondrodysplasia punctata "Online Medical...
2 KB (225 words) - 03:09, 3 December 2023
and rhizomelic chondrodysplasia punctata type 1. Peroxin GeneReviews/NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia...
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Glyceronephosphate O-acyltransferase is an enzyme associated with rhizomelic chondrodysplasia punctata type 2. The gene encoding it, GNPAT, is located on chromosome...
2 KB (117 words) - 19:35, 27 February 2024
Restrictive dermopathy 1 RFT1-congenital disorder of glycosylation Rhizomelic chondrodysplasia punctata types 1 and 2 Ritscher-Schinzel syndrome 1 and 3 Roberts-SC...
14 KB (1,343 words) - 23:07, 26 April 2024
plasmalogen deficiencies, which lead to the development of rhizomelic chondrodysplasia punctata (RCDP) type 2 or 3, respectively. In such cases, both copies...
20 KB (2,392 words) - 16:58, 3 January 2024
Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis...
150 KB (15,363 words) - 22:39, 18 April 2024
(PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders...
8 KB (578 words) - 22:58, 29 April 2024
receptor. These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1, which impairs development of many parts of the body...
13 KB (1,342 words) - 03:39, 3 December 2023
dermopathy Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia punctata type 1, chondrodystrophia calcificans punctata, peroxisomal...
198 KB (17,977 words) - 12:52, 16 May 2024
acyltransferase, DHAP-AT) is an enzyme associated with Type 3 Rhizomelic chondrodysplasia punctata. This enzyme catalyses the following chemical reaction 1-acyl-glycerone...
2 KB (178 words) - 20:07, 16 October 2022
ANKH Chondrodysplasia punctata, rhizomelic, type 2; 222765; GNPAT Chondrodysplasia punctata, X-linked dominant; 302960; EBP Chondrodysplasia punctata, X-linked...
234 KB (18,877 words) - 15:43, 9 May 2024
MeSH C05.116.099.708.195 – chondrodysplasia punctata MeSH C05.116.099.708.195.200 – chondrodysplasia punctata, rhizomelic MeSH C05.116.099.708.207 – cleidocranial...
35 KB (2,265 words) - 16:55, 9 February 2024
112 – adrenoleukodystrophy MeSH C16.320.565.556.750.200 – chondrodysplasia punctata, rhizomelic MeSH C16.320.565.556.750.760 – Refsum disease MeSH C16.320...
78 KB (6,496 words) - 05:23, 12 April 2022
112 – adrenoleukodystrophy MeSH C18.452.648.556.750.200 – chondrodysplasia punctata, rhizomelic MeSH C18.452.648.556.750.760 – Refsum disease MeSH C18.452...
47 KB (4,274 words) - 16:49, 9 February 2024