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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Mental Disorders Diagnosed in Childhood (D019952)
Parent Node: Speech Disorders (D013064)
..Starting node ..Mutism (D009155)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7573
Name:	Mutism
Definition:	The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)
Alternative IDs:
ParentIDs:	MESH:D013064\|MESH:D019952
TreeNumbers:	C10.597.606.150.500.800.500 \|C23.888.592.604.150.500.800.500 \|F03.550.700
Synonyms:	Aphasia, Kussmaul \|Aphasia, Kussmaul's \|Conversion Mutism \|Conversion Mutisms \|Elective Mutism \|Elective Mutisms \|Kussmaul Aphasia \|Kussmaul's Aphasia \|Kussmauls Aphasia \|Mutism, Conversion \|Mutism, Elective \|Mutism, Organic \|Mutisms \|Mutisms, Conversion \|Mutisms, Ele
Slim Mappings:	Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D009155 MeSH: D009155 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants