Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000227235 Individual ID 00299913 Associated disease XHED Phenotype details adult not able to sweat (HP:0000966); height 178 cm, weight 107kg; resting heart rate 80/min; sweat volume 0.0 ul, 0 sweat pores/cm2; basal skin conductance 3.0 uS, increase after stimulation 0.0 uS; 26 missing teeth Diagnosis/Initial hypohidrotic ectodermal dysplasia Inheritance Familial, X-linked dominant Diagnosis/Definite XHED Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-21 19:30:17 +02:00 (CEST) Date last edited N/A

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