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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: Acidosis, Renal Tubular (D000141)
Parent Node: Calcinosis (D002114)
Parent Node: Osteopetrosis (D010022)
..Starting node ..Whyte Murphy Fallon Sly syndrome (C536060)
Child Nodes:
Sister Nodes:
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
..Osteopetrosis autosomal dominant type 1 (C536056)
..Osteopetrosis lethal (C536057)
..Osteopetrosis with renal tubular acidosis (C536058)
..Osteopetrosis, Autosomal Recessive 1 (C564915)
..OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
..Osteopetrosis, Autosomal Recessive 4 (C566933)
..Osteopetrosis, Autosomal Recessive 5 (C566883)
..Osteopetrosis, Autosomal Recessive 6 (C566931)
..Osteopetrosis, Autosomal Recessive 7 (C567354)
..Osteopetrosis, mild autosomal recessive form (C536059)
..Roy Maroteaux Kremp syndrome (C535875)
..Whyte Murphy Fallon Sly syndrome (C536060)
..Worth syndrome (C536748)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11748
Name:	Whyte Murphy Fallon Sly syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000141\|MESH:D002114\|MESH:D010022
TreeNumbers:	C05.116.099.708.702.678/C536060 \|C12.777.419.815.093/C536060 \|C13.351.968.419.815.093/C536060 \|C16.320.565.861.093/C536060 \|C18.452.076.176.210/C536060 \|C18.452.174.130/C536060 \|C18.452.648.861.093/C536060
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536060 MeSH: C536060 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants