MCID: DFN021
MIFTS: 14

Deafness with Labyrinthine Aplasia Microtia and Microdontia malady

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Aliases & Descriptions for Deafness with Labyrinthine Aplasia Microtia and Microdontia:

Name: Deafness with Labyrinthine Aplasia Microtia and Microdontia 48
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 68
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 48
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 48
 
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 27
Deafness with Lamm 48
Lamm Syndrome 48

Classifications:



Summaries for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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MalaCards based summary: Deafness with Labyrinthine Aplasia Microtia and Microdontia, also known as deafness, congenital, with inner ear agenesis, microtia, and microdontia, is related to deafness, congenital with inner ear agenesis, microtia, and microdontia and microtia. An important gene associated with Deafness with Labyrinthine Aplasia Microtia and Microdontia is FGF3 (Fibroblast Growth Factor 3).

Related Diseases for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Diseases related to Deafness with Labyrinthine Aplasia Microtia and Microdontia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, congenital with inner ear agenesis, microtia, and microdontia12.2
2microtia10.4
3cerebritis10.2
4cerebral folate deficiency10.2

Symptoms & Phenotypes for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Drugs & Therapeutics for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Genetic Tests for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Genetic tests related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:

id Genetic test Affiliating Genes
1 Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm)27

Anatomical Context for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Publications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Articles related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:

idTitleAuthorsYear
1
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). (21752681)
2011
2
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (22993869)
1993

Variations for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Expression for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Search GEO for disease gene expression data for Deafness with Labyrinthine Aplasia Microtia and Microdontia.

Pathways for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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GO Terms for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Sources for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet