loading...| Preferred Name |
MEACHAM SYNDROME |
|
| Synonyms |
|
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608978 |
|
| cui |
C1837026 |
|
| Gene Locus |
11p13 |
|
| Gene Symbol |
WT1 NPHS4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006962 http://purl.bioontology.org/ontology/OMIM/MTHU003459 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU037913 http://purl.bioontology.org/ontology/OMIM/MTHU012058 http://purl.bioontology.org/ontology/OMIM/MTHU037208 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
608978 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MEACHAM SYNDROME |
|
| Scope Statement |
Gonads can have either ovarian or testicular morphology [MISCELLANEOUS] Caused by mutation in the WT1 transcription factor gene (WT1, 607102.0003) [MOLECULAR BASIS] Historic patients had complex congenital heart defects, gonads with testicular morphology, and neonatal death [MISCELLANEOUS] Based on a report of 2 half-sibs with XY karyotype (last curated June 2021) [MISCELLANEOUS] |
|
| tui |
T047 |