MCID: ANN019
MIFTS: 9

Anonychia-Ectrodactyly

Categories: Rare diseases

Aliases & Classifications for Anonychia-Ectrodactyly

MalaCards integrated aliases for Anonychia-Ectrodactyly:

Name: Anonychia-Ectrodactyly 57 70
Anonychia Ectrodactyly 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? same as eec syndrome (129900)


HPO:

31
anonychia-ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 106900
MedGen 41 C1862843
UMLS 70 C1862843

Summaries for Anonychia-Ectrodactyly

MalaCards based summary : Anonychia-Ectrodactyly, is also known as anonychia ectrodactyly. Related phenotypes are split hand and anonychia

More information from OMIM: 106900

Related Diseases for Anonychia-Ectrodactyly

Symptoms & Phenotypes for Anonychia-Ectrodactyly

Human phenotypes related to Anonychia-Ectrodactyly:

31
# Description HPO Frequency HPO Source Accession
1 split hand 31 HP:0001171
2 anonychia 31 HP:0001798
3 ectodermal dysplasia 31 HP:0000968
4 aplasia of metacarpal bones 31 HP:0010048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Limbs:
ectrodactyly
absent phalanges
absent metacarpals

Skin:
ectodermal dysplasia

Nails:
anonychia

Clinical features from OMIM®:

106900 (Updated 20-May-2021)

Drugs & Therapeutics for Anonychia-Ectrodactyly

Search Clinical Trials , NIH Clinical Center for Anonychia-Ectrodactyly

Genetic Tests for Anonychia-Ectrodactyly

Anatomical Context for Anonychia-Ectrodactyly

Publications for Anonychia-Ectrodactyly

Articles related to Anonychia-Ectrodactyly:

# Title Authors PMID Year
1
Anonychia with ectrodactyly: clinical and linkage data. 57
13488188 1957

Variations for Anonychia-Ectrodactyly

Expression for Anonychia-Ectrodactyly

Search GEO for disease gene expression data for Anonychia-Ectrodactyly.

Pathways for Anonychia-Ectrodactyly

GO Terms for Anonychia-Ectrodactyly

Sources for Anonychia-Ectrodactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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