loading...| Preferred Name |
Hypohidrotic ectodermal dysplasia |
|
| Synonyms |
HED |
|
| Definitions |
A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_238468 |
|
| alternative_term |
HED Anhidrotic ectodermal dysplasia |
|
| definition |
A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
|
| hasDbXref |
OMIM:300291 OMIM:612132 OMIM:614940 OMIM:614941 OMIM:224900 ICD-11:LD27.02 ICD-10:Q82.4 OMIM:305100 OMIM:129490 |
|
| label |
Hypohidrotic ectodermal dysplasia |
|
| notation |
ORPHA:238468 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79373 |
|
| prefixIRI |
ORDO:Orphanet_238468 |
|
| prefLabel |
Hypohidrotic ectodermal dysplasia |
|
| present_in |
Europe AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79373 |
|
| subClassOf |