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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Hearing Loss, Conductive (D006314)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Maxillofacial Abnormalities (D019767)
..Starting node ..Abruzzo Erickson syndrome (C535559)
Child Nodes:
Sister Nodes:
..Abruzzo Erickson syndrome (C535559)
..Ackerman syndrome (C538170)
..Bifid Nose, Autosomal Dominant (C567781)
..Cherubism (D002636) 2
..Dentofacial Deformities (D063169)
..Jaw Abnormalities (D007569) 158
..Maxillofacial Dysostosis (C563599)
..Maxillonasal dysplasia, Binder type (C536036)
..Oculomaxillofacial dysostosis (C537736)
..Robinow syndrome, autosomal recessive (C535863)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	97
Name:	Abruzzo Erickson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006314\|MESH:D017880\|MESH:D019767\|MESH:D040181
TreeNumbers:	C05.660.207.540/C535559 \|C05.660.585/C535559 \|C07.650.500/C535559 \|C09.218.458.341.562/C535559 \|C10.597.751.418.341.562/C535559 \|C16.131.621.207.540/C535559 \|C16.131.621.585/C535559 \|C16.131.850.500/C535559 \|C16.320.322/C535559 \|C23.888.592.763.393.341.562/C53555
Synonyms:	Abruzzo-Erickson Syndrome \|Charge-Like Syndrome, X-Linked \|CHARGE like syndrome, X linked
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Genetic disease (inborn)\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535559 MeSH: C535559 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants