MCID: ISL100
MIFTS: 6

Isolated Congenital Breast Hypoplasia/aplasia

Categories: Reproductive diseases, Rare diseases

Aliases & Classifications for Isolated Congenital Breast Hypoplasia/aplasia

MalaCards integrated aliases for Isolated Congenital Breast Hypoplasia/aplasia:

Name: Isolated Congenital Breast Hypoplasia/aplasia 59
Isolated Congenital Amastia 59

Classifications:



External Ids:

Orphanet 59 ORPHA180188
UMLS via Orphanet 74 C0432357
ICD10 via Orphanet 34 Q83.0

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).

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

Publications for Isolated Congenital Breast Hypoplasia/aplasia

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 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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