Preferred Name |
HID Syndrome |
|
Synonyms |
Hystrix-Like Ichthyosis with Deafness |
|
ID |
http://purl.bioontology.org/ontology/MESH/C566528 |
|
altLabel |
Hystrix-Like Ichthyosis with Deafness Ichthyosis, Hystrix-Like, with Deafness |
|
cui |
C1865234 |
|
HM |
D006319 D007057 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20121105 |
|
MeSH Frequency |
1 |
|
MMR |
20131024 |
|
notation |
C566528 |
|
prefLabel |
HID Syndrome |
|
SC |
3 |
|
Scope Statement |
mutation in GJB2 |
|
TERMUI |
T841725 T825400 T825401 |
|
TH |
OMIM (2013) GHR (2014) |
|
tui |
T047 |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/121011 | OMIM | CUI | |
http://purl.bioontology.org/ontology/OMIM/602540 | OMIM | CUI | |
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566528 | RH-MESH | LOOM |