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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: Pathological Conditions, Anatomical (D020763)
..Starting node ..Facial Asymmetry (D005146)
Child Nodes:
........Facial Hemihypertrophy (C563014)
........Facial Palsy, Congenital, Unilateral Or Bilateral (C563309)
........Fronto-facio-nasal dysplasia (C538063)
........Hemifacial Hyperplasia With Strabismus (C564199)
........Hemifacial myohyperplasia (C535862)
........Mehes syndrome (C536146)
........Oculodentoosseous dysplasia recessive (C537733)
........Opitz Reynolds Fitzgerald syndrome (C535713)
Sister Nodes:
..Accessory Atrioventricular Bundle (D058606)
..Agenesis of Corpus Callosum (D061085) 59
..Airway Remodeling (D056151)
..Alopecia (D000505) 61
..Atrial Remodeling (D064752)
..Atrophy (D001284) 18
..Blister (D001768) 3
..Calculi (D002137) 15
..Choristoma (D002828) 2
..Constriction, Pathologic (D003251) 9
..Cysts (D003560) 78
..Dilatation, Pathologic (D004108)
..Diverticulum (D004240) 7
..Facial Asymmetry (D005146) 8
..Fistula (D005402) 34
..Hernia (D006547) 73
..Hypertrophy (D006984) 62
..Leg Length Inequality (D007870)
..Leukoplakia (D007971) 2
..Nails, Malformed (D009264) 44
..Plaque, Amyloid (D058225) 1
..Plaque, Atherosclerotic (D058226)
..Polyps (D011127) 7
..Prolapse (D011391) 5
..Rupture, Spontaneous (D012422) 1
..Torsion Abnormality (D014102) 13
..Vascular Remodeling (D066253)
..Ventricular Remodeling (D020257)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4068

Name:

Facial Asymmetry

Definition:

Congenital or acquired asymmetry of the face.

Alternative IDs:

ParentIDs:

MESH:D020763

TreeNumbers:

C23.300.505

Synonyms:

Asymmetries, Facial |Asymmetry, Facial |Facial Asymmetries

Slim Mappings:

Pathology (anatomical condition)

Reference:

MedGen: D005146
MeSH: D005146
OMIM: 133900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000689	Dental malocclusion
3	HP:0000324	Facial asymmetry
4	HP:0000327	Hypoplasia of the maxilla

Disease Causing ClinVar Variants