Jump to:
loading...| Preferred Name | autosomal genetic disease | |
| Synonyms |
autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease |
|
| Definitions |
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000429 |
|
| database_cross_reference |
DOID:0050739 UMLS:C0265384 SCTID:1899006 MEDGEN:539205 ICD9:758.5 |
|
| definition |
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. |
|
| has_exact_synonym |
autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease |
|
| id |
MONDO:0000429 |
|
| in_subset | ||
| label |
autosomal genetic disease |
|
| notation |
MONDO:0000429 |
|
| preferred label |
autosomal genetic disease |
|
| prefLabel |
autosomal genetic disease |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0265384 http://identifiers.org/snomedct/1899006 |
|
| subClassOf |
Create mapping