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: Facies (D019066)
Parent Node: Heart Septal Defects, Atrial (D006344)
Parent Node: Lymphedema (D008209)
..Starting node ..Irons Bhan syndrome (C535539)
Child Nodes:
Sister Nodes:
..Aagenaes syndrome (C535330)
..CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
..Dahlberg Borer Newcomer syndrome (C535769)
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Elephantiasis (D004604)
..Elephantiasis, Filarial (D004605)
..German Syndrome (C562543)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Irons Bhan syndrome (C535539)
..Lymphedema and Cerebral Arteriovenous Anomaly (C563612)
..Lymphedema distichiasis syndrome (C537710)
..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..Lymphedema, Congenital Recessive (C565432)
..Lymphedema, Hereditary, IB (C567452)
..LYMPHEDEMA, HEREDITARY, IC (OMIM:613480)
..Lymphedema, Hereditary, II (C562467)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..Non-Filarial Lymphedema (D062846)
..Waldmann disease (C536567)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5916
Name:	Irons Bhan syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006344\|MESH:D008209\|MESH:D019066
TreeNumbers:	C14.240.400.560.375/C535539 \|C14.280.400.560.375/C535539 \|C15.604.496/C535539 \|C16.131.240.400.560.375/C535539 \|C23.550.291.812/C535539
Synonyms:	Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes \|Lymphedema, atrial septal defect, and characteristic facial changes
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Lymphatic disease\|Pathology (process)
Reference:	MedGen: C535539 MeSH: C535539 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants