loading...| Preferred Name |
MONILETHRIX |
| Synonyms |
MNLIX |
| ID |
http://purl.bioontology.org/ontology/OMIM/158000 |
| altLabel |
MNLIX |
| cui |
C0546966 |
| Gene Locus |
12q13 |
| Gene Symbol |
KRT83 MNLIX KRTHB3 HB3 EKVP5 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU026534 http://purl.bioontology.org/ontology/OMIM/MTHU002744 http://purl.bioontology.org/ontology/OMIM/MTHU005148 http://purl.bioontology.org/ontology/OMIM/MTHU023612 http://purl.bioontology.org/ontology/OMIM/MTHU026533 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
158000 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MONILETHRIX |
| Scope Statement |
Variable severity [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Hair regrowth may occur later in life [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutation in the keratin 83 gene (KRT83, 602765.0001) [MOLECULAR BASIS] Caused by mutation in the keratin 81 gene (KRT81, 602153.0001) [MOLECULAR BASIS] Caused by mutation in the keratin 86 gene (KRT86, 601928.0001). [MOLECULAR BASIS] |
| tui |
T019 |