loading...| Preferred Name |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM |
| Synonyms |
IDDMOH |
| ID |
http://purl.bioontology.org/ontology/OMIM/615866 |
| altLabel |
IDDMOH CSS9 MRD27 COFFIN-SIRIS SYNDROME 9 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 |
| cui |
C4014528 |
| Gene Locus |
2p25 |
| Gene Symbol |
IDDMOH SOX11 MRD27 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU055291 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU004166 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU055293 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU055292 http://purl.bioontology.org/ontology/OMIM/MTHU000560 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
615866 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM |
| Scope Statement |
Two patients have been described (last curated June 2014) [MISCELLANEOUS] Caused by mutation in the SRY-box 11 gene (SOX11, 600898.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||