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: rare eyebrow/eyelashes anomaly (MONDO:0020184)
..Starting node ..eyebrow hypertrophy ()
Child Nodes:
........Cornelia de Lange syndrome ()
........mucopolysaccharidosis type 1 ()
........trisomy 18 ()
Sister Nodes:
..congenital absence of the eyebrow/eyelashes ()
..eyebrow hypertrophy ()
..eyebrow/eyelashes distichiasis ()
..eyebrow/eyelashes hypertrichosis ()
..eyebrow/eyelashes pigmentation anomaly ()
..eyebrow/eyelashes structural anomaly ()
..eyelashes hypertrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20186
Name:	eyebrow hypertrophy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal