loading...| Preferred Name |
Ectodermal Dysplasia 1, Anhidrotic |
|
| Synonyms |
Dysplasia 1, Ectodermal |
|
| Definitions |
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D053358 |
|
| altLabel |
Dysplasia 1, Ectodermal Ectodermal Dysplasia 1s Anhidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, X Linked Ectodermal Dysplasia 1 X Linked Hypohydridic Ectodermal Dysplasia Syndromes, CST Anhydrotic Ectodermal Dysplasia, X Linked X-Linked Hypohydridic Ectodermal Dysplasia Ectodermal Dysplasia, Anhidrotic, X-Linked Ectodermal Dysplasia, Hypohidrotic, X-Linked CST Syndromes CST Syndrome Christ-Siemens-Touraine Syndrome Ectodermal Dysplasia, Hypohydridic, X-Linked Anhydrotic Ectodermal Dysplasia, X-Linked Syndrome, CST Ectodermal Dysplasia 1, Anhydrotic Christ Siemens Touraine Syndrome |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0162359 |
|
| DC |
1 |
|
| definition |
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. |
|
| DX |
20070101 |
|
| FX |
D053331 |
|
| HN |
2007(1993) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2007; see ECTODERMAL DYSPLASIA 1993-2006 |
|
| Mapped from | ||
| MDA |
20060705 |
|
| MMR |
20150618 |
|
| MN |
C16.131.077.350.198 C16.131.831.350.198 C17.800.804.350.198 C16.320.322.116 C17.800.827.250.198 C16.320.850.250.198 |
|
| notation |
D053358 |
|
| prefLabel |
Ectodermal Dysplasia 1, Anhidrotic |
|
| TERMUI |
T812041 T843525 T661879 T661881 T841718 T661878 T665192 T812040 T732665 T013667 T812038 T665191 |
|
| TH |
OMIM (2013) NLM (1993) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |