MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

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

Disease Browser
Parent Node: disease of ear (MONDO:0021205)
Parent Node: head and neck neoplasm (MONDO:0005586)
..Starting node ..ear neoplasm ()
Child Nodes:
........benign neoplasm of ear ()
........external ear neoplasm ()
........inner ear neoplasm ()
........malignant ear neoplasm ()
........neoplasm of middle ear ()
Sister Nodes:
..buccal mucosa neoplasm ()
..cavernous hemangioma of face ()
..cranial nerve neoplasm ()
..ear neoplasm ()
..eye neoplasm ()
..facial dermoid cyst ()
..familial thyroglossal duct cyst ()
..head and neck cancer ()
..head and neck paraganglioma ()
..laryngotracheal angioma ()
..lip neoplasm ()
..lipoma of face ()
..nasal cavity and paranasal sinus lethal midline granuloma ()
..nasal cavity and paranasal sinus neoplasm ()
..nasal cavity neoplasm ()
..nasopharyngeal neoplasm ()
..neoplasm of floor of mouth ()
..neoplasm of hypopharynx ()
..neoplasm of neck ()
..neoplasm of oropharynx ()
..ocular adnexal lymphoma ()
..odontogenic neoplasm ()
..odontoma ()
..oral cavity neoplasm ()
..rare otorhinolaryngologic tumor ()
..rare tumor of salivary glands ()
..recurrent respiratory papillomatosis ()
..skull neoplasm ()
..tongue neoplasm ()
..tonsil neoplasm ()
..tumor of salivary gland ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21233
Name:	ear neoplasm
Definition:	A neoplasm (disease) that involves the ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ear neoplasm (disease); Ear neoplasms; Ear tumor; ear tumor; neoplasm of Ear; neoplasm of ear; neoplasm of the Ear; tumor of Ear; tumor of ear; tumor of the Ear
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal