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22q13 deletion syndrome: Applications, Regions & Standards

22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion…

Language: English [EN]
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22q13 deletion syndrome topic overview

The analysis highlights Applications, Regions and Standards as prominent areas in the source structure around 22q13 deletion syndrome.

Related topics
28
Source areas
4
Connected nodes
32
Extracted relationships
23
Related term clusters
12
Bridge connections
32

What this topic covers Research coverage

Source areas are shown by the number of related topics found in each part of the analysis. Use smaller areas too: they can reveal specialized angles and content gaps.

Overview · 13 topics
Cause · 10 topics
Signs and symptoms · 3 topics
Diagnosis and management · 2 topics

Smaller areas are not necessarily less important. They contain fewer connections in this analysis and can be useful for finding specialized angles or coverage gaps.

Key facts & relationships

High-confidence facts extracted from structured source data. Use them as anchors for further research.

Other names
Phelan–McDermid syndrome
Specialty
Genetics

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Explore all related topics Closing gaps

Browse the complete topic structure, not only the most central items. Less prominent entities and concepts can reveal missing angles, specialized context and useful research gaps. Each item opens a new analysis centered on that subject.

Overview

Signs and symptoms

Cause

Diagnosis and management

For the semantics nerds

You can skip this section if you’re here for content ideas and keyword inspiration.

Advanced semantic analysis

How 22q13 deletion syndrome connects Entity context

The extracted context around 22q13 deletion syndrome shows recurring relationship patterns in the source. For example, 22q13 deletion syndrome → Although, ARSA, ASD, BRD1, CELSR1, CHKB, Deletions, Interest, Kb, MAPK12, MAPK8IP2, Mb, PANX2, PLXNB2, SBF1, SCO2, SHANK3, Since, TCF20, Various Another extracted example is 22q13 deletion syndrome → Phelan–McDermid syndrome. Use these groups to spot repeated connection types before inspecting the individual relationships.

22q13 deletion syndrome

Top relations

related to Cause · 21
22q13 deletion syndrome → Although, ARSA, ASD, BRD1, CELSR1, CHKB, Deletions, Interest, Kb, MAPK12, MAPK8IP2, Mb, PANX2, PLXNB2, SBF1, SCO2, SHANK3, Since, TCF20, Various
Other names · 1
22q13 deletion syndrome → Phelan–McDermid syndrome
Specialty · 1
22q13 deletion syndrome → Genetics

Important terminology

Use these terms to understand the vocabulary surrounding the topic, not as a checklist for keyword stuffing.

Important terminology

deletion 22q13 syndrome shank3 pms terminal deletions genetic gene associated genes patients clinical features phelan et al cases chromosome may

22q13 deletion syndrome relationships Subject–Predicate–Object triples

TTTA extracted 23 structured relationships around 22q13 deletion syndrome. Examples in this analysis include 22q13 deletion syndrome → Other names → Phelan–McDermid syndrome and 22q13 deletion syndrome → Specialty → Genetics. The table shows each extracted connection, where it came from and its confidence.

SubjectPredicateObjectConfidenceSrc
22q13 deletion syndromeOther namesPhelan–McDermid syndrome1.00infobox
22q13 deletion syndromeSpecialtyGenetics1.00infobox
22q13 deletion syndromerelated to CauseVarious0.60section
22q13 deletion syndromerelated to CauseAlthough0.60section
22q13 deletion syndromerelated to CauseKb0.60section
22q13 deletion syndromerelated to CauseMb0.60section
22q13 deletion syndromerelated to CauseDeletions0.60section
22q13 deletion syndromerelated to CauseSHANK30.60section
22q13 deletion syndromerelated to CauseInterest0.60section
22q13 deletion syndromerelated to CauseASD0.60section
22q13 deletion syndromerelated to CauseSince0.60section
22q13 deletion syndromerelated to CauseMAPK8IP20.60section

Related concept clusters Related term clusters

The concept neighborhoods around 22q13 deletion syndrome bring nearby vocabulary together. In this analysis, examples include Deletion, Syndrome and Deletions. Use the clusters to find adjacent concepts and terminology that may deserve separate research.

  • 22q13 deletion syndrome
    • Deletion
    • Syndrome
    • Deletions
    • Terminal
    • Phelan
    • Al
    • Et
    • Genes
    • Region
    • Shank3
    • Chromosome
    • Described
  • 22q13 deletion syndrome
    • Deletion
    • Syndrome
    • Terminal
    • Deletions
    • Al
    • Et
    • Phelan
    • May
    • Shank3
    • Genes
    • Region
    • Chromosome
  • genetic disorder
    • See
    • Clinical
    • Features
    • Disorder
    • Genetic
    • Mcdermid
    • Associated
    • Gene
    • May
    • Pms
    • Phelan
    • Mapk8ip2
  • chromosome 22
    • Terminal
    • Cases
    • Deletions
    • Genetics
    • Shank3
    • Deletion
    • Pms
    • Disorder
    • Mcdermid
    • Region
    • Speech
    • Syndrome
  • ring chromosome
    • Terminal
    • Cases
    • Deletions
    • Genetics
    • Shank3
    • Deletion
    • Pms
    • Disorder
    • Mcdermid
    • Region
    • Speech
    • Syndrome
  • dysmorphic features
    • Speech
    • Genetic
    • Hypotonia
    • Table
    • Individuals
    • Pms
    • Phelan
    • Al
    • Et
    • Patients
    • Genetics
    • See
  • shank3
    • Gene
    • Asd
    • Syndrome
    • Al
    • Et
    • Associated
    • Described
    • Patients
    • Genes
    • Terminal
    • Mapk8ip2
    • Individuals
  • autism spectrum disorder
    • See
    • Genetic
    • Associated
    • Gene
    • Mapk8ip2
    • Shank3
    • Mcdermid
    • Asd
    • Phelan
    • Deletions
    • Genes
    • Terminal

Connections between topic areas Semantic bridges

For 22q13 deletion syndrome, one of the stronger structural bridges in this analysis connects 22q13 deletion syndrome with Overview. Bridges highlight paths between different parts of the map and can reveal research angles that are easy to miss in a flat list.

Min side: 3
22q13 deletion syndrome — Overview · splits 19 ⟂ 14
22q13 deletion syndrome — Cause · splits 22 ⟂ 11
22q13 deletion syndrome — Signs and symptoms · splits 29 ⟂ 4
22q13 deletion syndrome — Diagnosis and management · splits 30 ⟂ 3

Map overview Semantic statistics

22q13 deletion syndrome

Nodes33
Edges32
Triples23
Avg. degree1.94
Density0.060606
Components1

Source & methodology

TTTA analyzes the structure around 22q13 deletion syndrome to surface related topics, entities, relationships, concept neighborhoods and bridge connections. Use the map to explore areas such as Applications, Regions & Standards, including less central topics that may reveal useful research gaps. Automatically extracted connections are research leads rather than rewritten encyclopedia content.

Source: Wikipedia — 22q13 deletion syndrome · EN edition · Analysis: TopicsToTalkAbout

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