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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: Pharyngeal Diseases (D010608)
..Starting node ..Branchial Cleft Anomalies (C562384)
Child Nodes:
Sister Nodes:
..Branchial Cleft Anomalies (C562384)
..Deglutition Disorders (D003680) 19
..Lemierre Syndrome (D057831)
..Myopathy, Distal 2 (C565262)
..Nasopharyngeal Diseases (D009302) 4
..Pharyngeal Neoplasms (D010610) 6
..Pharyngitis (D010612) 4
..Velopharyngeal Insufficiency (D014681)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1461

Name:

Branchial Cleft Anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D010608|MESH:D019465

TreeNumbers:

C05.660.207/C562384 |C07.550/C562384 |C09.775/C562384 |C16.131.621.207/C562384

Synonyms:

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C562384
MeSH: C562384
OMIM: 113600;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000464	Abnormality of the neck

Disease Causing ClinVar Variants