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: Diseases (C)
Parent Node: Hypotrichosis simplex (C537160)
..Starting node ..HYPOTRICHOSIS 2 (OMIM:146520)
Child Nodes:
Sister Nodes:
..HYPOTRICHOSIS 2 (OMIM:146520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5646

Name:

HYPOTRICHOSIS 2

Definition:

Alternative IDs:

ParentIDs:

MESH:C537160

TreeNumbers:

C17.800.329.937/C537160/146520

Synonyms:

HTSS |HTSS1 |HYPOTRICHOSIS SIMPLEX OF THE SCALP 1 |HYPOTRICHOSIS, SPANISH TYPE |HYPT2

Slim Mappings:

Skin disease

Reference:

MedGen: 146520
MeSH: 146520
OMIM: 146520;

Genes: CDSN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004782	obsolete Hypotrichosis of the scalp

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001264.4(CDSN):c.643C>T (p.Gln215Ter)	-1	-	Pathogenic	121917819	RCV000007412;	N	MedGen:C1840299,OMIM:146520	6	31084749	31084749	NM_001264.4:c.643C>T	NP_001255.3:p.Gln215Ter	NC_000006.11:g.31084749G>A	OMIM Allelic Variant:602593.0001	C1840299 146520 Hypotrichosis 2
NM_001264.4(CDSN):c.598C>T (p.Gln200Ter)	-1	-	Pathogenic	121917820	RCV000007413;	N	MedGen:C1840299,OMIM:146520	6	31084794	31084794	NM_001264.4:c.598C>T	NP_001255.3:p.Gln200Ter	NC_000006.11:g.31084794G>A	OMIM Allelic Variant:602593.0002	C1840299 146520 Hypotrichosis 2