Disease #06539 (ECTD13 (Ectodermal dysplasia 13, hair/tooth type), OMIM:617392)

Official abbreviation ECTD13
Name Ectodermal dysplasia 13, hair/tooth type
OMIM ID 617392
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene KREMEN1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00464413 - Rosen and Holling et al. 2025 - submitted - M - Germany - - - - - ECTD13 tooth agenesis and mild ectodermal features - KREMEN1 1 1 Tess Holling
00464414 2.1 Rosen and Holling et al. 2025 - submitted 2 affected siblings F yes Egypt - - - - - ECTD13 tooth agenesis and mild ectodermal features KREMEN1 KREMEN1 1 2 Tess Holling
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.