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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.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, http://www.sciencedirect.com/science/article/pii/S1769721213002449, https://www.ncbi.nlm.nih.gov/pubmed/21129728
Xrefs

GARD:9679

MESH:C536958

MIM:605282

ORDO:363417

SNOMEDCT_US_2023_03_01:777998000

UMLS_CUI:C1854466

Subsets

DO_rare_slim

Synonyms

PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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