loading...| Preferred Name |
ADRENAL HYPOPLASIA, CONGENITAL |
|
| Synonyms |
AHCH |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300200 |
|
| altLabel |
AHCH AHC WITH HHG CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA AHC WITH ISOLATED GONADOTROPIN DEFICIENCY ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM ADDISON DISEASE, X-LINKED AHX AHC |
|
| cui |
C0342482 |
|
| Gene Locus |
Xp21.3-p21.2 |
|
| Gene Symbol |
SRXY2 AHX DAX1 NR0B1 AHC |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008544 http://purl.bioontology.org/ontology/OMIM/MTHU008545 http://purl.bioontology.org/ontology/OMIM/MTHU008553 http://purl.bioontology.org/ontology/OMIM/MTHU001136 http://purl.bioontology.org/ontology/OMIM/MTHU037101 http://purl.bioontology.org/ontology/OMIM/MTHU008551 http://purl.bioontology.org/ontology/OMIM/MTHU004911 http://purl.bioontology.org/ontology/OMIM/MTHU008549 http://purl.bioontology.org/ontology/OMIM/MTHU005257 http://purl.bioontology.org/ontology/OMIM/MTHU008548 http://purl.bioontology.org/ontology/OMIM/MTHU000177 http://purl.bioontology.org/ontology/OMIM/MTHU036721 http://purl.bioontology.org/ontology/OMIM/MTHU037275 http://purl.bioontology.org/ontology/OMIM/MTHU008542 http://purl.bioontology.org/ontology/OMIM/MTHU008554 http://purl.bioontology.org/ontology/OMIM/MTHU008541 http://purl.bioontology.org/ontology/OMIM/MTHU008546 http://purl.bioontology.org/ontology/OMIM/MTHU008552 http://purl.bioontology.org/ontology/OMIM/MTHU000164 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU008543 http://purl.bioontology.org/ontology/OMIM/MTHU008547 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
306190 |
|
| notation |
300200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ADRENAL HYPOPLASIA, CONGENITAL |
|
| Scope Statement |
Onset usually within first weeks of life [MISCELLANEOUS] Caused by mutation in the nuclear receptor subfamily 0, group B, member 1 gene (NR0B1, 300473.0001) [MOLECULAR BASIS] Poor gonadotropin response to gonadotropin releasing hormone (GnRH) [MISCELLANEOUS] Clinical variability [MISCELLANEOUS] May be seen in combination with Duchenne muscular dystrophy (DMD, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome [MISCELLANEOUS] Transient recovery of adrenal function may occur in childhood [MISCELLANEOUS] Later onset may occur (1 to 11 years) [MISCELLANEOUS] |
|
| tui |
T047 |