Preferred Label : Pallister-Hall syndrome;
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 synonym : syndrome, Pallister-Hall; hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; pallister hall syndrome; cerebroacrovisceral early lethality complex; hypothalamic hamartoblastoma syndrome; hamartoblastoma syndrome, hypothalamic; hamartoblastoma syndromes, hypothalamic; hypothalamic hamartoblastoma syndromes; syndrome, hypothalamic hamartoblastoma; syndromes, hypothalamic hamartoblastoma; CAVE complex; CAVE complices; complex, CAVE; complices, CAVE; Hall-Pallister syndrome; hall pallister syndrome; syndrome, Hall-Pallister;
CISMeF synonym : Pallister-Hall; Pallister-Hall's syndrome;
Wikipedia link : https://en.wikipedia.org/wiki/Cerebroacrovisceral early lethality complex;
Origin ID : D054975;
UMLS CUI : C0265220;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Manual NTBT mappings (CISMeF)
ORDO relation(s)
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
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.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=672
2013
true
France
French
Pallister-Hall syndrome
scientific and technical information
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=672
2013
false
France
French
Pallister-Hall syndrome
scientific and technical information
---