MCID: ANN009
MIFTS: 13

Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly

Categories: Rare diseases

Aliases & Classifications for Anonychia-Onychodystrophy with Brachydactyly Type B and...

MalaCards integrated aliases for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

Name: Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 58 54
Autosomal Dominant Onychodystrophy and Anonychia with Type B Brachydactyly and Ectrodactyly 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 106990
MedGen 43 C1862842

Summaries for Anonychia-Onychodystrophy with Brachydactyly Type B and...

MalaCards based summary : Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly, also known as autosomal dominant onychodystrophy and anonychia with type b brachydactyly and ectrodactyly, is related to brachydactyly. Related phenotypes are nail dystrophy and anonychia

Description from OMIM: 106990

Related Diseases for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Diseases related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.5

Symptoms & Phenotypes for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Human phenotypes related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 anonychia 33 HP:0001798
3 split hand 33 HP:0001171
4 nail dysplasia 33 HP:0002164
5 short metatarsal 33 HP:0010743
6 type b brachydactyly 33 HP:0005831
7 ectodermal dysplasia 33 HP:0000968
8 aplasia/hypoplasia of the distal phalanges of the hand 33 HP:0009835

Symptoms via clinical synopsis from OMIM:

58
Nails:
anonychia
onychodystrophy

Skin:
ectodermal dysplasia

Limbs:
ectrodactyly
absent/hypoplastic metacarpals
absent/hypoplastic distal phalanges
hypoplastic metatarsals

Clinical features from OMIM:

106990

Drugs & Therapeutics for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Search Clinical Trials , NIH Clinical Center for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly

Genetic Tests for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Anatomical Context for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Publications for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Articles related to Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly:

# Title Authors Year
1
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. ( 3780038 )
1986

Variations for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Expression for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Search GEO for disease gene expression data for Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly.

Pathways for Anonychia-Onychodystrophy with Brachydactyly Type B and...

GO Terms for Anonychia-Onychodystrophy with Brachydactyly Type B and...

Sources for Anonychia-Onychodystrophy with Brachydactyly Type B and...

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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