MCID: ANN019
MIFTS: 11

Anonychia-Ectrodactyly

Categories: Rare diseases

Aliases & Classifications for Anonychia-Ectrodactyly

MalaCards integrated aliases for Anonychia-Ectrodactyly:

Name: Anonychia-Ectrodactyly 58 74
Anonychia Ectrodactyly 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? same as eec syndrome (129900)


HPO:

33
anonychia-ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 106900
MedGen 43 C1862843
UMLS 74 C1862843

Summaries for Anonychia-Ectrodactyly

MalaCards based summary : Anonychia-Ectrodactyly, is also known as anonychia ectrodactyly. Affiliated tissues include bone, and related phenotypes are anonychia and split hand

Description from OMIM: 106900

Related Diseases for Anonychia-Ectrodactyly

Symptoms & Phenotypes for Anonychia-Ectrodactyly

Human phenotypes related to Anonychia-Ectrodactyly:

33
# Description HPO Frequency HPO Source Accession
1 anonychia 33 HP:0001798
2 split hand 33 HP:0001171
3 ectodermal dysplasia 33 HP:0000968
4 aplasia of metacarpal bones 33 HP:0010048

Symptoms via clinical synopsis from OMIM:

58
Nails:
anonychia

Skin:
ectodermal dysplasia

Limbs:
ectrodactyly
absent phalanges
absent metacarpals

Clinical features from OMIM:

106900

Drugs & Therapeutics for Anonychia-Ectrodactyly

Search Clinical Trials , NIH Clinical Center for Anonychia-Ectrodactyly

Genetic Tests for Anonychia-Ectrodactyly

Anatomical Context for Anonychia-Ectrodactyly

MalaCards organs/tissues related to Anonychia-Ectrodactyly:

42
Bone

Publications for Anonychia-Ectrodactyly

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
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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