mulibrey nanism

Preferred Label : mulibrey nanism;

MeSH 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.;

MeSH synonym : nanism, muscle-liver-brain-eye; perheentupa syndrome; mulibrey nanism syndrome; nanism syndrome, mulibrey; syndrome, mulibrey nanism; syndrome, perheentupa; nanism, mulibrey; muscle-liver-brain-eye nanism; muscle liver brain eye nanism;

MeSH annotation : mulibrey (stands for MUscle, LIver, BRain, EYes): spell in titles & translations with lowercase m;

Wikipedia link : https://en.wikipedia.org/wiki/Mulibrey nanism;

Details

Origin ID

D050336;

UMLS CUI

C0524582;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- MULIBREY nanism [ICD-11 More detail]
- TRIM37 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Mulibrey Nanism [NCIt concept]
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism [OMIM Phenotype]
- Mulibrey nanism [ORDO Disease]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism syndrome [SNOMED Notion]
DO Cross reference
- mulibrey nanism [DO Concept]
Has phenotype(s) (HPO)
- Absent of small frontal sinus [HPO term]
- Broad and depressed nasal bridge [HPO term]
- Weak, high-pitched voice [HPO term]
Manual NTBT mappings (CISMeF)
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
ORDO relation(s)
- Mulibrey nanism [ORDO Disease]
Record concept(s)
- mulibrey nanism [MeSH concept]
Related MeSH Supplementary Concept(s)
- pericardial constriction with growth failure [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mulibrey Nanism [NCIt concept]
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism [OMIM Phenotype]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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