MCID: CMD004
MIFTS: 12

Comedones, Familial Dyskeratotic

Categories: Genetic diseases

Aliases & Classifications for Comedones, Familial Dyskeratotic

MalaCards integrated aliases for Comedones, Familial Dyskeratotic:

Name: Comedones, Familial Dyskeratotic 58 74
Familial Dyskeratotic Comedones 30

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
comedones, familial dyskeratotic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 120450
MedGen 43 C0345424
SNOMED-CT via HPO 70 199879009 263681008 95320005
UMLS 74 C0345424

Summaries for Comedones, Familial Dyskeratotic

MalaCards based summary : Comedones, Familial Dyskeratotic, is also known as familial dyskeratotic comedones. Affiliated tissues include skin, and related phenotype is abnormality of the skin.

Description from OMIM: 120450

Related Diseases for Comedones, Familial Dyskeratotic

Symptoms & Phenotypes for Comedones, Familial Dyskeratotic

Human phenotypes related to Comedones, Familial Dyskeratotic:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
Skin:
dyskeratotic comedones

Clinical features from OMIM:

120450

Drugs & Therapeutics for Comedones, Familial Dyskeratotic

Search Clinical Trials , NIH Clinical Center for Comedones, Familial Dyskeratotic

Genetic Tests for Comedones, Familial Dyskeratotic

Genetic tests related to Comedones, Familial Dyskeratotic:

# Genetic test Affiliating Genes
1 Familial Dyskeratotic Comedones 30

Anatomical Context for Comedones, Familial Dyskeratotic

MalaCards organs/tissues related to Comedones, Familial Dyskeratotic:

42
Skin

Publications for Comedones, Familial Dyskeratotic

Articles related to Comedones, Familial Dyskeratotic:

# Title Authors Year
1
Familial Dyskeratotic Comedones. ( 30207533 )
2018
2
Familial dyskeratotic comedones: A rare entity. ( 26953840 )
2016
3
Familial dyskeratotic comedones. ( 18388375 )
2008
4
Two sisters with familial dyskeratotic comedones. ( 15319152 )
2004
5
Familial dyskeratotic comedones. ( 10354042 )
1999
6
Familial dyskeratotic comedones. A report of three cases and review of the literature. ( 3316319 )
1987
7
Familial dyskeratotic comedones. ( 3156699 )
1985
8
Familial dyskeratotic comedones. ( 7105484 )
1982
9
Familial dyskeratotic comedones. ( 5060870 )
1972

Variations for Comedones, Familial Dyskeratotic

Expression for Comedones, Familial Dyskeratotic

Search GEO for disease gene expression data for Comedones, Familial Dyskeratotic.

Pathways for Comedones, Familial Dyskeratotic

GO Terms for Comedones, Familial Dyskeratotic

Sources for Comedones, Familial Dyskeratotic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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