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loading...| Preferred Name |
Dubowitz syndrome |
| Synonyms |
Dwarfism-eczema-peculiar facies syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C535718 |
| altLabel |
Dwarfism-eczema-peculiar facies syndrome |
| cui |
C0175691 |
| HM |
D006130 D004485 D008607 D019066 D008831 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019066 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D004485 |
| MDA |
20100825 |
| MeSH Frequency |
20 |
| MMR |
20151110 |
| notation |
C535718 |
| prefLabel |
Dubowitz syndrome |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive facies. OMIM: 223370 |
| TERMUI |
T736982 T736984 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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