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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D050336
http://purl.bioontology.org/ontology/MESH/D050336
|
|---|---|
| Preferred Name | Mulibrey Nanism |
| Definitions |
Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
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| Synonyms |
Mulibrey Nanism Syndrome
Nanism, Muscle-Liver-Brain-Eye
Nanism Syndrome, Mulibrey
Perheentupa Syndrome
Nanism, Mulibrey
Muscle-Liver-Brain-Eye Nanism
Syndrome, Perheentupa
Muscle Liver Brain Eye Nanism
Syndrome, Mulibrey Nanism
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein. |
|---|---|
| altLabel |
Mulibrey Nanism Syndrome
Nanism, Muscle-Liver-Brain-Eye
Nanism Syndrome, Mulibrey
Perheentupa Syndrome
Nanism, Mulibrey
Muscle-Liver-Brain-Eye Nanism
Syndrome, Perheentupa
Muscle Liver Brain Eye Nanism
Syndrome, Mulibrey Nanism
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|
| prefLabel | Mulibrey Nanism
|
| Machine permutation | 2006; see DWARFISM 1998-2005
|
| HN | 2006; use DWARFISM 1998-2005
|
| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T013400
T602665
T614040
T602664
T013399
|
| TH |
OMIM (2013)
NLM (2006)
NLM (1998)
ORD (2010)
|
| MMR | 20120703
|
| notation | D050336
|
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| DX | 20060101
|
| cui | C0524582
|
| DC | 1
|
| MN |
C05.116.099.343.796
C16.320.240.875
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| AN | mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 19960716
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |