loading...| Preferred Name |
Ectodermal dysplasia 1, hypohidrotic, X-linked |
|
| Synonyms |
XHED |
|
| Definitions |
(XHED) - A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. |
|
| ID |
http://identifiers.org/omim/305100 |
|
| altLabel |
XHED |
|
| definition |
(XHED) - A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. |
|
| id |
OMIM:305100 |
|
| notation |
OMIM:305100 |
|
| prefLabel |
Ectodermal dysplasia 1, hypohidrotic, X-linked |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/305100 | GEXO | SAME_URI | |
| http://identifiers.org/omim/305100 | RETO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/305100 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_305100 | CCO | LOOM | |
| http://identifiers.org/omim/305100 | GEXO | LOOM | |
| http://identifiers.org/omim/305100 | RETO | LOOM |