loading...| Preferred Name | Pallister-Hall Syndrome [Disease/Finding] | |
| Synonyms |
CAVE Complex Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly Pallister-Hall Syndrome Hall-Pallister Syndrome Cerebroacrovisceral Early Lethality Complex Hypothalamic Hamartoblastoma Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181083 |
|
| altLabel |
CAVE Complex Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly Pallister-Hall Syndrome Hall-Pallister Syndrome Cerebroacrovisceral Early Lethality Complex Hypothalamic Hamartoblastoma Syndrome |
|
| cui |
C0265220 |
|
| MESH DEFINITION |
A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. |
|
| MESH DUI |
D054975 |
|
| MeSH name |
Pallister-Hall Syndrome |
|
| MESH UI |
M0511704 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181083 |
|
| NUI |
N0000181083 |
|
| prefLabel |
Pallister-Hall Syndrome [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |