Link to this page
Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537607
http://purl.bioontology.org/ontology/MESH/C537607
|
|---|---|
| Preferred Name | Rhizomelic chondrodysplasia punctata, type 2 |
| Synonyms |
Glyceronephosphate O-Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Human dihydroxyacetonephosphate acyltransferase deficiency
Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
Dihydroxyacetonephosphate acyltransferase deficiency
Glyceronephosphate acyltransferase deficiency
DHAPAT deficiency
GNPAT deficiency
Type 2 rhizomelic chondrodysplasia punctata
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Glyceronephosphate O-Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Human dihydroxyacetonephosphate acyltransferase deficiency
Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency
Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
Dihydroxyacetonephosphate acyltransferase deficiency
Glyceronephosphate acyltransferase deficiency
DHAPAT deficiency
GNPAT deficiency
Type 2 rhizomelic chondrodysplasia punctata
See more
See less
|
|---|---|
| prefLabel | Rhizomelic chondrodysplasia punctata, type 2
|
| type | |
| tui | T047
|
| HM | D018902
|
| SC | 3
|
| TERMUI |
T807087
T743149
T743150
T743151
T743154
T743147
T743156
T743153
T743152
T807088
T743155
See more
See less
|
| TH |
OMIM (2013)
ORD (2010)
|
| MMR | 20121105
|
| notation | C537607
|
| Semantic type UMLS property | |
| cui | C1857242
|
| MeSH Frequency | 7
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |