Sex reversal, kidney, adrenal, and lung dysgenesis syndrome
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affectsOrgan |
gptkb:cancer
gptkb:adrenal_gland gptkb:kidney gonads |
| gptkbp:firstDescribed |
1999
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sex reversal, kidney, adrenal, and lung dysgenesis syndrome
|
| gptkbp:ICD-10_code |
Q89.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
NR0B1 gene
|
| gptkbp:OMIM |
300018
|
| gptkbp:symptom |
sex reversal
adrenal dysgenesis kidney dysgenesis lung dysgenesis |
| gptkbp:synonym |
ASKAL syndrome
SRKD syndrome |
| gptkbp:bfsParent |
gptkb:SERKAL_syndrome
|
| gptkbp:bfsLayer |
8
|