loading...| Preferred Name | oculocutaneous albinism | |
| Synonyms |
|
|
| Definitions |
An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050632 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| definition |
An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
|
| hasDbXref |
ORDO:55 OMIM:614473 OMIM:606574 OMIM:606952 OMIM:615312 OMIM:203290 OMIM:203200 OMIM:203100 ICD10CM:E70.3 |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:0050632 |
|
| imported from | ||
| inSubset | ||
| label |
oculocutaneous albinism |
|
| prefixIRI |
DOID:0050632 |
|
| prefLabel |
oculocutaneous albinism |
|
| subClassOf |
This ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.