| Metadata | |
|---|---|
| ID | DOID:0050814 |
| Name | temtamy preaxial brachydactyly syndrome |
| Definition | A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. https://www.ncbi.nlm.nih.gov/pubmed/21129728, http://www.sciencedirect.com/science/article/pii/S1769721213002449, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 |
| Xrefs |
SNOMEDCT_US_2023_03_01:777998000 |
| Subsets |
DO_rare_slim |
| Synonyms |
PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |