Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE

Synonyms

THYROID HORMONE UNRESPONSIVENESS

ID

http://purl.bioontology.org/ontology/OMIM/274300

altLabel

THYROID HORMONE UNRESPONSIVENESS

REFETOFF SYNDROME

GTHR

GRTH

cui

C3489796

Gene Locus

3p24.3

Gene Symbol

THR1

PRTH

ERBA2

THRB

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

274300

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE

tui

T047

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http://purl.bioontology.org/ontology/MESH/C567936 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567936 Medical Subject Headings LOOM