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temtamy preaxial brachydactyly syndrome

http://purl.obolibrary.org/obo/DOID_0050814

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://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 ]

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Term info

Label

temtamy preaxial brachydactyly syndrome

Synonyms

PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE

database cross reference

created by

lschriml

creation date

2013-12-05T12:12:10Z

has obo namespace

disease_ontology

DOID:0050814

Term relations

Subclass of:

autosomal recessive disease
syndrome
has material basis in some autosomal recessive inheritance