MCID: AML063
MIFTS: 9

Amelogenesis Imperfecta Type 2a1

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta Type 2a1

MalaCards integrated aliases for Amelogenesis Imperfecta Type 2a1:

Name: Amelogenesis Imperfecta Type 2a1 12
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 71
Amelogenesis Imperfecta Type Iia1 12
Ai2a1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110057
ICD10 32 K00.5
UMLS 71 C2673922

Summaries for Amelogenesis Imperfecta Type 2a1

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.

MalaCards based summary : Amelogenesis Imperfecta Type 2a1, also known as amelogenesis imperfecta pigmented hypomaturation type 1, is related to amelogenesis imperfecta, hypomaturation type, iia1. Affiliated tissues include salivary gland.

Related Diseases for Amelogenesis Imperfecta Type 2a1

Symptoms & Phenotypes for Amelogenesis Imperfecta Type 2a1

Drugs & Therapeutics for Amelogenesis Imperfecta Type 2a1

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta Type 2a1

Genetic Tests for Amelogenesis Imperfecta Type 2a1

Anatomical Context for Amelogenesis Imperfecta Type 2a1

MalaCards organs/tissues related to Amelogenesis Imperfecta Type 2a1:

40
Salivary Gland

Publications for Amelogenesis Imperfecta Type 2a1

Variations for Amelogenesis Imperfecta Type 2a1

Expression for Amelogenesis Imperfecta Type 2a1

Search GEO for disease gene expression data for Amelogenesis Imperfecta Type 2a1.

Pathways for Amelogenesis Imperfecta Type 2a1

GO Terms for Amelogenesis Imperfecta Type 2a1

Sources for Amelogenesis Imperfecta Type 2a1

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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