MCID: ANN019
MIFTS: 11

Anonychia-Ectrodactyly

Categories: Rare diseases

Aliases & Classifications for Anonychia-Ectrodactyly

MalaCards integrated aliases for Anonychia-Ectrodactyly:

Name: Anonychia-Ectrodactyly 57 73
Anonychia Ectrodactyly 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? same as eec syndrome (129900)


HPO:

32
anonychia-ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 106900
MedGen 42 C1862843
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Nails:
anonychia

Skin:
ectodermal dysplasia

Limbs:
ectrodactyly
absent phalanges
absent metacarpals


Clinical features from OMIM:

106900

Human phenotypes related to Anonychia-Ectrodactyly:

32
# Description HPO Frequency HPO Source Accession
1 anonychia 32 HP:0001798
2 split hand 32 HP:0001171
3 ectodermal dysplasia 32 HP:0000968
4 aplasia of metacarpal bones 32 HP:0010048

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:

41
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 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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