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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: Dysostoses (D004413)
Parent Node: Encephalocele (D004677)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Facial Asymmetry (D005146)
..Starting node ..Fronto-facio-nasal dysplasia (C538063)
Child Nodes:
Sister Nodes:
..Facial Hemihypertrophy (C563014)
..Facial Palsy, Congenital, Unilateral Or Bilateral (C563309)
..Fronto-facio-nasal dysplasia (C538063)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Hemifacial myohyperplasia (C535862)
..Mehes syndrome (C536146)
..Oculodentoosseous dysplasia recessive (C537733)
..Opitz Reynolds Fitzgerald syndrome (C535713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4427
Name:	Fronto-facio-nasal dysplasia
Definition:
Alternative IDs:
ParentIDs:	MESH:D004413\|MESH:D004677\|MESH:D005124\|MESH:D005146\|MESH:D019465
TreeNumbers:	C05.116.099.370/C538063 \|C05.660.207/C538063 \|C10.500.680.488/C538063 \|C11.250/C538063 \|C16.131.384/C538063 \|C16.131.621.207/C538063 \|C16.131.666.680.488/C538063 \|C23.300.505/C538063 \|C23.300.707.186/C538063
Synonyms:	Fronto-facio-nasal dysostosis \|Frontofacionasal Dysostosis \|Frontofacionasal Dysplasia
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)
Reference:	MedGen: C538063 MeSH: C538063 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants