Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/C536029
http://purl.bioontology.org/ontology/MESH/C536029
Preferred Name

MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
Synonyms
Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)
Spastic paraplegia, type 1
X-Linked Corpus Callosum Agenesis
L1 Syndrome
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
Gareis-Mason syndrome
Thumb, congenital clasped, with mental retardation
Genetic Diseases, X-Linkeds
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Crash syndrome
Clasped thumb and mental retardation
X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas)
Spg1
Adducted thumb with mental retardation
Masa Syndrome
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Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)
Spastic paraplegia, type 1
X-Linked Corpus Callosum Agenesis
L1 Syndrome
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
Gareis-Mason syndrome
Thumb, congenital clasped, with mental retardation
Genetic Diseases, X-Linkeds
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Crash syndrome
Clasped thumb and mental retardation
X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas)
Spg1
Adducted thumb with mental retardation
Masa Syndrome
See more
See less
prefLabel
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
type
tui
T047
HM
D040181
D008607
D015419
SC
3
TERMUI
T738018
T738017
T738015
T841846
T752159
T841847
T738022
T738020
T841844
T841849
T841845
T841848
T738016
T845548
T738019
T802116
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TH
OMIM (2013)
NLM (2010)
GHR (2014)
NLM (2014)
ORD (2010)
MMR
20131024
notation
C536029
Semantic type UMLS property
cui
C0795953
MeSH Frequency
18
DSC
20100825
Inverse of RB
0
Mapped to
MDA
20100825
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