MCID: AML063
MIFTS: 10

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 72
Amelogenesis Imperfecta Type Iia1 12
Ai2a1 12

Classifications:



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Disease Ontology 12 DOID:0110057
ICD10 33 K00.5
UMLS 72 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

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Genetic Tests for Amelogenesis Imperfecta Type 2a1

Anatomical Context for Amelogenesis Imperfecta Type 2a1

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

41
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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