| Metadata | |
|---|---|
| ID | DOID:0060348 |
| Name | hypoparathyroidism-retardation-dysmorphism syndrome |
| Definition | A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. https://www.ncbi.nlm.nih.gov/pubmed/24339556, https://www.ncbi.nlm.nih.gov/pubmed/15645691 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1197148005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
HRD syndrome [EXACT] hypoparathyroidism with short stature, mental retardation and seizures [EXACT] Sanjad-Sakati syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |