Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/308940
http://purl.bioontology.org/ontology/OMIM/308940
|
|---|---|
| Preferred Name | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME |
| Synonyms |
ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS
DL-ATS
CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
ATS-DL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS
DL-ATS
CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME
LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
ATS-DL
|
|---|---|
| prefLabel | LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME
|
| notation | 308940
|
| Scope Statement | Contiguous gene syndrome involving deletions of the collagen, type IV, alpha-5 (COL4A5, 303630) and collagen, type IV, alpha-6 (COL4A6, 303631) genes [MOLECULAR BASIS]
Renal failure in second or third decade [MISCELLANEOUS]
Onset in childhood [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| tui | T047
|
| cui | C1839884
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties: