MCID: CMD004
MIFTS: 13

Comedones, Familial Dyskeratotic

Categories: Genetic diseases

Aliases & Classifications for Comedones, Familial Dyskeratotic

MalaCards integrated aliases for Comedones, Familial Dyskeratotic:

Name: Comedones, Familial Dyskeratotic 57 73
Familial Dyskeratotic Comedones 29

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
comedones, familial dyskeratotic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 120450
MedGen 42 C0345424
SNOMED-CT via HPO 69 263681008 199879009 95320005
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Skin:
dyskeratotic comedones


Clinical features from OMIM:

120450

Human phenotypes related to Comedones, Familial Dyskeratotic:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951

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 29

Anatomical Context for Comedones, Familial Dyskeratotic

MalaCards organs/tissues related to Comedones, Familial Dyskeratotic:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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