Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/226900
http://purl.bioontology.org/ontology/OMIM/226900
|
|---|---|
| Preferred Name | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 |
| Synonyms |
EDM4
MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT
MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EDM4
MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT
MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
|
|---|---|
| prefLabel | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
| Gene Symbol |
EDM4
D5S1708
DTD
DTDST
SLC26A2
|
| Scope Statement | Allelic to diastrophic dysplasia (222600), atelosteogenesis, type II (256050), and achondrogenesis, type IB (600972) [MISCELLANEOUS]
Genetic heterogeneity, see EDM1 (132400), EDM2 (600204), EDM3 (600969), and EDM5 (607078) [MISCELLANEOUS]
Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 5q32-q33.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 226900
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1847593
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |