- Concept UI
- M0024244
- Scope Note
- Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
- Terms
-
Langer-Giedion Syndrome
Preferred Term
Term UI
T046934
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Acrodysplasia V
Term UI
T046932
Date03/20/1989
LexicalTag
NON
ThesaurusID
NLM (1990)
-
Giedion-Langer Syndrome
Term UI
T046933
Date03/20/1989
LexicalTag
EPO
ThesaurusID
-
Trichorhinophalangeal Syndrome Type II
Term UI
T046935
Date03/20/1989
LexicalTag
NON
ThesaurusID
-
Trichorhinophalangeal Syndrome with Exostoses
Term UI
T046936
Date03/21/1989
LexicalTag
NON
ThesaurusID
NLM (1990)
-
Trichorhinophalangeal Syndrome, Type II
Term UI
T824576
Date06/22/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Tricho-Rhino-Phalangeal Syndrome Type II
Term UI
T844310
Date05/16/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
TRPSII
Term UI
T844311
Date05/16/2013
LexicalTag
ABB
ThesaurusID
GHR (2014)
-
Trichorhinophalangeal Syndrome Type 2
Term UI
T844312
Date05/16/2013
LexicalTag
NON
ThesaurusID