MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: head or neck disease/disorder (MONDO:0021059)
..Starting node ..otorhinolaryngologic disease ()
Child Nodes:
........autoimmune disease of ear, nose and throat ()
........Cogan syndrome ()
........disease of ear ()
........disease of pharynx ()
........genetic otorhinolaryngologic disease ()
........idiopathic bilateral vestibulopathy ()
........mal de Debarquement ()
........rare otorhinolaryngologic tumor ()
........rare otorhinolaryngological malformation ()
........recurrent respiratory papillomatosis ()
........semicircular canal dehiscence syndrome ()
........silent sinus syndrome ()
........syndrome or malformation associated with head and neck malformations ()
Sister Nodes:
..cervical artery dissection ()
..cervical disc degenerative disorder ()
..cervical lymphadenitis ()
..faucial diphtheria ()
..genetic head and neck malformation ()
..head and neck neoplasm ()
..head disease ()
..otorhinolaryngologic disease ()
..pharyngitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24623
Name:	otorhinolaryngologic disease
Definition:	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease, ENT; disease, otolaryngologic; disease, otolaryngological; disease, otorhinolaryngologic; disease, otorhinolaryngological; diseases, ENT; diseases, otolaryngologic; diseases, otolaryngological; diseases, otorhinolaryngologic; diseases, otorhinolaryngological; ear, nose and throat disorder;
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal