Preferred Name |
X-Linked Chondrodysplasia Punctata 1 |
Synonyms |
X-Linked Recessive Chondrodysplasia Punctata 1 |
ID |
http://purl.bioontology.org/ontology/MESH/C580533 |
altLabel |
X-Linked Recessive Chondrodysplasia Punctata 1 Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia punctata 1, X-linked recessive Arylsulfatase E Deficiency CDXP1 Cdpx1 |
cui |
C3669395 |
HM |
D040181 D002806 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20131024 |
MeSH Frequency |
12 |
MMR |
20211019 |
notation |
C580533 |
prefLabel |
X-Linked Chondrodysplasia Punctata 1 |
SC |
3 |
TERMUI |
T842724 T842722 T000994160 T842723 T842721 T737734 T842725 |
TH |
ORD (2010) OMIM (2013) NLM (2019) GHR (2014) |
tui |
T047 |