loading...| Preferred Name | Pallister-Hall Syndrome | |
| Synonyms |
Complex, CAVE Pallister Hall Syndrome CAVE Complex Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndromes Hall Pallister Syndrome Hall-Pallister Syndrome Syndrome, Hypothalamic Hamartoblastoma Hamartoblastoma Syndrome, Hypothalamic Cerebroacrovisceral Early Lethality Complex Syndrome, Hall-Pallister Complices, CAVE Hypothalamic Hamartoblastoma Syndrome Syndromes, Hypothalamic Hamartoblastoma CAVE Complices Syndrome, Pallister-Hall Hamartoblastoma Syndromes, Hypothalamic |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054975 |
|
| altLabel |
Complex, CAVE Pallister Hall Syndrome CAVE Complex Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndromes Hall Pallister Syndrome Hall-Pallister Syndrome Syndrome, Hypothalamic Hamartoblastoma Hamartoblastoma Syndrome, Hypothalamic Cerebroacrovisceral Early Lethality Complex Syndrome, Hall-Pallister Complices, CAVE Hypothalamic Hamartoblastoma Syndrome Syndromes, Hypothalamic Hamartoblastoma CAVE Complices Syndrome, Pallister-Hall Hamartoblastoma Syndromes, Hypothalamic |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0265220 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20090101 |
|
| HN |
2009 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2009 |
|
| MDA |
20080708 |
|
| MMR |
20130708 |
|
| MN |
C05.660.585.600.374 C10.551.240.250.700.500.249 C04.588.614.250.195.885.500.299 C10.228.140.211.885.500.299 C10.228.140.617.477.299 C04.445.622 C16.131.077.690 C16.131.621.585.600.374 |
|
| notation |
D054975 |
|
| prefLabel |
Pallister-Hall Syndrome |
|
| TERMUI |
T782697 T842231 T843518 T702711 T842232 T842230 |
|
| TH |
OMIM (2013) NLM (2009) NLM (2012) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D017689 http://purl.bioontology.org/ontology/MESH/D000015 |