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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: Alopecia (D000505)
Parent Node: Cystic Fibrosis (D003550)
Parent Node: Hamartoma (D006222)
..Starting node ..Follicular hamartoma alopecia cystic fibrosis (C537071)
Child Nodes:
Sister Nodes:
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Follicular hamartoma alopecia cystic fibrosis (C537071)
..Giant mammary hamartoma (C536818)
..Hamartoma Syndrome, Multiple (D006223) 10
..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
..Hypothalamic hamartomas (C537158)
..Lip, Hamartomatous (C563621)
..Michelin tire baby syndrome (C537575)
..Microgastria limb reduction defect (C537554)
..Orstavik Lindemann Solberg syndrome (C537137)
..Pallister-Hall Syndrome (D054975)
..Tuberous Sclerosis (D014402) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4361
Name:	Follicular hamartoma alopecia cystic fibrosis
Definition:
Alternative IDs:
ParentIDs:	MESH:D000505\|MESH:D003550\|MESH:D006222
TreeNumbers:	C04.445/C537071 \|C06.689.202/C537071 \|C08.381.187/C537071 \|C16.320.190/C537071 \|C16.614.213/C537071 \|C17.800.329.937.122/C537071 \|C23.300.035/C537071
Synonyms:	Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis
Slim Mappings:	Cancer\|Digestive system disease\|Genetic disease (inborn)\|Infant-newborn disease\|Pathology (anatomical condition)\|Respiratory tract disease\|Skin disease
Reference:	MedGen: C537071 MeSH: C537071 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants