loading...| Preferred Name |
trichothiodystrophy 4, nonphotosensitive |
|
| Synonyms |
MPLKIP nonphotosensitive trichothiodystrophy Pollitt syndrome nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP TTD4 trichothiodystrophy 4, nonphotosensitive BIDS syndrome trichothiodystrophy-neurocutaneous syndrome hair-brain syndrome Amish brittle hair brain syndrome trichothiodystrophy, nonphotosensitive 1 nonphotosensitive trichothiodystrophy |
|
| Definitions |
A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0021013 |
|
| has_exact_synonym |
MPLKIP nonphotosensitive trichothiodystrophy Pollitt syndrome nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP TTD4 trichothiodystrophy 4, nonphotosensitive |
|
| has_related_synonym |
BIDS syndrome trichothiodystrophy-neurocutaneous syndrome hair-brain syndrome Amish brittle hair brain syndrome trichothiodystrophy, nonphotosensitive 1 nonphotosensitive trichothiodystrophy |
|
| label |
trichothiodystrophy 4, nonphotosensitive |
|
| prefixIRI |
MONDO:0021013 |
|
| prefLabel |
trichothiodystrophy 4, nonphotosensitive |
|
| textual definition |
A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0021013 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0021013 | MONDO | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146899 | NCIT | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C146899 | BERO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/234050 | OMIM | LOOM |