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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: Craniofacial Abnormalities (D019465)
Parent Node: Myasthenic Syndromes, Congenital (D020294)
..Starting node ..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
Child Nodes:
Sister Nodes:
..Congenital myasthenic syndrome ib (C536089)
..Endplate Acetylcholinesterase Deficiency (C566415)
..Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors (C564979)
..Myasthenia, Familial Infantile, 1 (C565289)
..Myasthenia, Limb-Girdle, Autoimmune (C563552)
..Myasthenia, Limb-Girdle, with Tubular Aggregates (C566434)
..Myasthenic Syndrome due to Mutation in SCN4A (C565830)
..MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
..Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism (C563830)
..Myasthenic Syndrome, Congenital, Fast-Channel (C563832)
..Myasthenic Syndrome, Congenital, Ie (C563831)
..Myasthenic syndrome, congenital, postsynaptic slow-channel (C536091)
..Myasthenic syndrome, congenital, type Id (C536090)
..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..Myopathy, Congenital, Compton-North (C567261)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7589
Name:	Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Definition:
Alternative IDs:
ParentIDs:	MESH:D019465\|MESH:D020294
TreeNumbers:	C05.660.207/C563829 \|C10.668.758.800/C563829 \|C16.131.621.207/C563829 \|C16.320.590/C563829
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C563829 MeSH: C563829 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants