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MASA syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010559

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. [ Orphanet:2466 ]

Synonyms: X-linked complicated hereditary spastic paraplegia type 1 hereditary spastic paraplegia 1 masa syndrome, X-linked recessive X-linked corpus callosum agenesis X-linked spastic paraplegia 1 spastic paraplegia, X-linked Gareis-Mason syndrome intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome MASA syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:162894 (MONDO:equivalentTo)
  • SCTID:716996008 (MONDO:equivalentTo)
  • OMIM:303350 (Orphanet:2466/e)
  • GARD:6986 (MONDO:GARD)
  • UMLS:C0795953 (MONDO:equivalentTo)
  • NCIT:C129930 (MONDO:equivalentTo)
  • DOID:0060246 (MONDO:equivalentTo)
  • Orphanet:2466 (OMIM:303350)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

A synonym that is historic and discouraged
mental retardation, aphasia, shuffling Gait, and adducted thumbs [ https://omim.org/entry/303350 ]

A synonym that is historic and discouraged
thumb, congenital Clasped, with mental retardation [ https://omim.org/entry/303350 ]

A synonym that is historic and discouraged
thumb congenital clasped with mental retardation [ GARD:0006986 ]

A synonym that is historic and discouraged
mental retardation aphasia shuffling Gait adducted thumbs (MASA) [ GARD:0006986 ]

exactMatch

http://purl.obolibrary.org/obo/DOID_0060246

http://identifiers.org/medgen/162894

http://linkedlifedata.com/resource/umls/id/C0795953

http://www.orpha.net/ORDO/Orphanet_2466

http://purl.obolibrary.org/obo/NCIT_C129930

http://identifiers.org/snomedct/716996008

https://omim.org/entry/303350

has related synonym

thumb congenital clasped with intellectual disability

thumb congenital clasped with mental retardation

spastic paraplegia 1

Clasped thumb and mental retardation

spastic paraplegia 1, X-linked

thumb, congenital Clasped, with mental retardation

thumb, congenital Clasped, with intellectual disability

adducted thumb with intellectual disability

Clasped thumb and intellectual disability

CRASH syndrome

adducted thumb with mental retardation

intellectual disability aphasia shuffling Gait adducted thumbs (MASA)

intellectual disability, aphasia, shuffling Gait, and adducted thumbs

mental retardation aphasia shuffling Gait adducted thumbs (MASA)

mental retardation, aphasia, shuffling Gait, and adducted thumbs

CRASH syndrome, X-linked recessive

id

MONDO:0010559

term tracker item

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/4521