loading...| Preferred Name |
WITKOP SYNDROME |
| Synonyms |
TNS |
| ID |
http://purl.bioontology.org/ontology/OMIM/189500 |
| altLabel |
TNS ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE TOOTH-AND-NAIL SYNDROME ECTD3 NAIL DYSPLASIA WITH HYPODONTIA ECTODERMAL DYSPLASIA 3, WITKOP TYPE |
| cui |
C0406735 |
| Gene Locus |
4p16.1 |
| Gene Symbol |
HOX7 STHAG1 HYD1 OFC5 MSX1 ECTD3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015239 http://purl.bioontology.org/ontology/OMIM/MTHU009447 http://purl.bioontology.org/ontology/OMIM/MTHU015241 http://purl.bioontology.org/ontology/OMIM/MTHU015243 http://purl.bioontology.org/ontology/OMIM/MTHU007784 http://purl.bioontology.org/ontology/OMIM/MTHU015245 http://purl.bioontology.org/ontology/OMIM/MTHU001506 http://purl.bioontology.org/ontology/OMIM/MTHU015246 http://purl.bioontology.org/ontology/OMIM/MTHU015244 http://purl.bioontology.org/ontology/OMIM/MTHU015242 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
189500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
WITKOP SYNDROME |
| Scope Statement |
Thin, fine hair described in few individuals [MISCELLANEOUS] Caused by mutation in the MSH homeobox 1 gene (MSX1, 142983.0003) [MOLECULAR BASIS] Estimated incidence of 1-2 in 10,000 [MISCELLANEOUS] Normal ability to tolerate heat [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536736 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C536736 | Medical Subject Headings / 医学主题词表 | LOOM |