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loading...| Preferred Name |
Greig cephalopolysyndactyly syndrome |
| Synonyms |
Cephalopolysyndactyly Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537300 |
| altLabel |
Cephalopolysyndactyly Syndrome Greig Cephalopolysyndactyly (Gcps) Syndrome Greig syndrome Polysyndactyly with peculiar skull shape |
| cui |
C0265306 |
| HM |
D000168 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
31 |
| MMR |
20160929 |
| notation |
C537300 |
| prefLabel |
Greig cephalopolysyndactyly syndrome |
| SC |
3 |
| Scope Statement |
A congenital syndrome characterized by variable abnormalities of the limbs, head and face including an unusually prominent forehead (frontal bossing), HYPERTELORISM; MACROCEPHALY; CRANIOSYNOSTOSES; and SYNDACTYLY. Psychomotor development is usually normal. It is caused by mutations or chromosomal translocations invloving the GLI3 gene. OMIM: 175700 |
| TERMUI |
T841545 T742125 T742124 T841544 T742122 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |
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