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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amblyopia (D000550)
Parent Node: Facial Asymmetry (D005146)
Parent Node: Strabismus (D013285)
..Starting node ..Hemifacial Hyperplasia With Strabismus (C564199)
Child Nodes:
Sister Nodes:
..Carnevale syndrome (C535586)
..Esotropia (D004948) 1
..Exotropia (D005099)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Krauss Herman Holmes syndrome (C537618)
..McPherson Robertson Cammarano syndrome (C538161)
..Mehes syndrome (C536146)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..Van Bogaert-Hozay syndrome (C536526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5009

Name:

Hemifacial Hyperplasia With Strabismus

Definition:

Alternative IDs:

ParentIDs:

MESH:D000550|MESH:D005146|MESH:D013285

TreeNumbers:

C10.228.140.055/C564199 |C10.292.562.887/C564199 |C10.597.751.941.073/C564199 |C11.590.810/C564199 |C11.966.073/C564199 |C23.300.505/C564199 |C23.888.592.763.941.073/C564199

Synonyms:

Bencze Syndrome

Slim Mappings:

Eye disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C564199
MeSH: C564199
OMIM: 141350;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000646	Amblyopia
3	HP:0005323	Hemifacial hypertrophy
4	HP:0000486	Strabismus
5	HP:0000176	Submucous cleft hard palate

Disease Causing ClinVar Variants