Disease browser and phenotype 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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Blepharophimosis (D016569)
..Starting node ..Krieble Bixler syndrome (C537619)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..Blepharophimosis syndrome Ohdo type (C536232)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Bpes With Duane Retraction Syndrome (C566222)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Jorgenson Lenz syndrome (C536292)
..Krauss Herman Holmes syndrome (C537618)
..Krieble Bixler syndrome (C537619)
..Marden Walker like syndrome (C535909)
..Marden-Walker syndrome (C535910)
..Nablus mask-like facial syndrome (C536110)
..Young Simpson syndrome (C536717)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6146
Name:	Krieble Bixler syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D016569
TreeNumbers:	C11.250.090/C537619 \|C11.338.190/C537619 \|C16.131.077/C537619 \|C16.131.384.190/C537619
Synonyms:	Autosomal dominant blepharophimosis with multiple congenital anomalies
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: C537619 MeSH: C537619 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants