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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: Skin Diseases, Vesiculobullous (D012872)
..Starting node ..Atrichia with Papular Lesions (C565924)
Child Nodes:
Sister Nodes:
..Acantholysis (D000051) 1
..Amyloidosis, Cutaneous Bullous (C562644)
..Atrichia with Papular Lesions (C565924)
..Blister (D001768) 3
..Dermatitis Herpetiformis (D003874) 1
..Eczema, Dyshidrotic (D011146)
..Eosinophilic pustular folliculitis (C535953)
..Epidermolysis Bullosa (D004820) 29
..Erythema Multiforme (D004892) 1
..Hydroa Vacciniforme (D006837) 1
..Linear IgA Bullous Dermatosis (D062027)
..Papular urticaria (C537169)
..Pemphigoid Gestationis (D006559)
..Pemphigoid, Benign Mucous Membrane (D010390)
..Pemphigoid, Bullous (D010391)
..Pemphigus (D010392) 2
..Pemphigus, Benign Familial (D016506)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1040

Name:

Atrichia with Papular Lesions

Definition:

Alternative IDs:

OMIM:209500

ParentIDs:

MESH:D000505|MESH:D012872

TreeNumbers:

C17.800.329.937.122/C565924 |C17.800.865/C565924 |C23.300.035/C565924

Synonyms:

APL |Papular Atrichia

Slim Mappings:

Pathology (anatomical condition)|Skin disease

Reference:

MedGen: C565924
MeSH: C565924
OMIM: 209500;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007482	Generalized papillary lesions
3	HP:0001006	obsolete Hypotrichosis

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_005144.4(HR):c.3526C>T (p.Gln1176Ter)	55806	HR	Pathogenic	121434450	RCV000007764;	N	MedGen:C1859592,OMIM:209500,ORPHA:86819	8	21973257	21973257	NM_005144.4:c.3526C>T	NP_005135.2:p.Gln1176Ter	NC_000008.10:g.21973257G>A	OMIM Allelic Variant:602302.0011	C1859592 209500 Atrichia with papular lesions
NM_005144.4(HR):c.1837C>T (p.Arg613Ter)	55806	HR	Pathogenic	121434449	RCV000007760;	N	MedGen:C1859592,OMIM:209500,ORPHA:86819	8	21981240	21981240	NM_005144.4:c.1837C>T	NP_005135.2:p.Arg613Ter	NC_000008.10:g.21981240G>A	OMIM Allelic Variant:602302.0007	C1859592 209500 Atrichia with papular lesions