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loading...| Preferred Name |
Hypoparathyroidism-retardation-dysmorphism syndrome |
| Synonyms |
Sanjad-Sakati syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537157 |
| altLabel |
Sanjad-Sakati syndrome Hypoparathyroidism with short stature, mental retardation, and seizures |
| cui |
C1855840 |
| HM |
D006130 D010009 D008607 D012640 D000015 D007011 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012640 http://purl.bioontology.org/ontology/MESH/D007011 http://purl.bioontology.org/ontology/MESH/D010009 http://purl.bioontology.org/ontology/MESH/D008607 |
| MDA |
20100825 |
| MeSH Frequency |
18 |
| MMR |
20121105 |
| notation |
C537157 |
| prefLabel |
Hypoparathyroidism-retardation-dysmorphism syndrome |
| SC |
3 |
| Scope Statement |
Hypoparathyroidism short stature mental retardation seizures retardation, and developmental delay |
| TERMUI |
T741658 T741657 T741655 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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