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 57 53
Autosomal Dominant Onychodystrophy and Anonychia with Type B Brachydactyly and Ectrodactyly 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 106990
MedGen 42 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...

Symptoms via clinical synopsis from OMIM:

57
Nails:
anonychia
onychodystrophy

Skin:
ectodermal dysplasia

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


Clinical features from OMIM:

106990

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 HP:0008404
2 anonychia 32 HP:0001798
3 split hand 32 HP:0001171
4 nail dysplasia 32 HP:0002164
5 short metatarsal 32 HP:0010743
6 type b brachydactyly 32 HP:0005831
7 ectodermal dysplasia 32 HP:0000968
8 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835

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 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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