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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C536259
http://purl.bioontology.org/ontology/MESH/C536259
|
|---|---|
| Preferred Name | Qazi Markouizos syndrome |
| Synonyms |
Puerto Rican Infant Hypotonia Syndrome
Puertorican infant hypotonia syndrome
Dysharmonic skeletal maturation muscular fibre disproportion
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Puerto Rican Infant Hypotonia Syndrome
Puertorican infant hypotonia syndrome
Dysharmonic skeletal maturation muscular fibre disproportion
|
|---|---|
| prefLabel | Qazi Markouizos syndrome
|
| Scope Statement | Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion
|
| type | |
| tui | T047
|
| HM |
D006130
D009123
D000015
D012640
D008607
|
| SC | 3
|
| TERMUI |
T804047
T738765
T738764
T738767
|
| TH |
OMIM (2013)
ORD (2010)
|
| MMR | 20131024
|
| notation | C536259
|
| Semantic type UMLS property | |
| cui | C2931142
|
| MeSH Frequency | 0
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |