loading...| Preferred Name |
RETICULAR DYSGENESIS |
|
| Synonyms |
RETICULAR DYSGENESIA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/267500 |
|
| altLabel |
RETICULAR DYSGENESIA DE VAAL DISEASE CONGENITAL ALEUKIA ALEUKOCYTOSIS HEMATOPOIETIC HYPOPLASIA, GENERALIZED SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA |
|
| cui |
C0272167 |
|
| Gene Locus |
1p34 |
|
| Gene Symbol |
AK2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009698 http://purl.bioontology.org/ontology/OMIM/MTHU008324 http://purl.bioontology.org/ontology/OMIM/MTHU009700 http://purl.bioontology.org/ontology/OMIM/MTHU009697 http://purl.bioontology.org/ontology/OMIM/MTHU006263 http://purl.bioontology.org/ontology/OMIM/MTHU009701 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
267500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RETICULAR DYSGENESIS |
|
| Scope Statement |
Caused by mutation in the adenylate kinase-2 gene (AK2, 103020.0001) [MOLECULAR BASIS] Early death in the first few weeks of life [MISCELLANEOUS] |
|
| tui |
T047 |