MCID: ISL100
MIFTS: 6

Isolated Congenital Breast Hypoplasia/aplasia

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Isolated Congenital Breast Hypoplasia/aplasia

MalaCards integrated aliases for Isolated Congenital Breast Hypoplasia/aplasia:

Name: Isolated Congenital Breast Hypoplasia/aplasia 58
Isolated Congenital Amastia 58

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

ICD10 via Orphanet 33 Q83.0
UMLS via Orphanet 72 C0432357
Orphanet 58 ORPHA180188

Summaries for Isolated Congenital Breast Hypoplasia/aplasia

MalaCards based summary : Isolated Congenital Breast Hypoplasia/aplasia, is also known as isolated congenital amastia. An important gene associated with Isolated Congenital Breast Hypoplasia/aplasia is PTPRF (Protein Tyrosine Phosphatase Receptor Type F). Affiliated tissues include breast.

Related Diseases for Isolated Congenital Breast Hypoplasia/aplasia

Symptoms & Phenotypes for Isolated Congenital Breast Hypoplasia/aplasia

Drugs & Therapeutics for Isolated Congenital Breast Hypoplasia/aplasia

Search Clinical Trials , NIH Clinical Center for Isolated Congenital Breast Hypoplasia/aplasia

Genetic Tests for Isolated Congenital Breast Hypoplasia/aplasia

Anatomical Context for Isolated Congenital Breast Hypoplasia/aplasia

MalaCards organs/tissues related to Isolated Congenital Breast Hypoplasia/aplasia:

40
Breast

Publications for Isolated Congenital Breast Hypoplasia/aplasia

Articles related to Isolated Congenital Breast Hypoplasia/aplasia:

# Title Authors PMID Year
1
Isolated congenital amastia: a subclavian artery supply disruption sequence? 61
20186805 2010

Variations for Isolated Congenital Breast Hypoplasia/aplasia

Expression for Isolated Congenital Breast Hypoplasia/aplasia

Search GEO for disease gene expression data for Isolated Congenital Breast Hypoplasia/aplasia.

Pathways for Isolated Congenital Breast Hypoplasia/aplasia

GO Terms for Isolated Congenital Breast Hypoplasia/aplasia

Sources for Isolated Congenital Breast Hypoplasia/aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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