Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/614450
http://purl.bioontology.org/ontology/OMIM/614450
Preferred Name

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Synonyms
CHNG6
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CHNG6
prefLabel
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Gene Symbol
THRA
THRA1
CHNG6
ERBA1
notation
614450
Scope Statement
Many features are present only in an untreated patient [MISCELLANEOUS]
Caused by mutation in the alpha-1 subunit of the thyroid hormone receptor gene (THRA, 190120.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU050732
http://purl.bioontology.org/ontology/OMIM/MTHU050735
http://purl.bioontology.org/ontology/OMIM/MTHU035903
http://purl.bioontology.org/ontology/OMIM/MTHU035905
http://purl.bioontology.org/ontology/OMIM/MTHU035922
http://purl.bioontology.org/ontology/OMIM/MTHU035919
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU035915
http://purl.bioontology.org/ontology/OMIM/MTHU050731
http://purl.bioontology.org/ontology/OMIM/MTHU001050
http://purl.bioontology.org/ontology/OMIM/MTHU035928
http://purl.bioontology.org/ontology/OMIM/MTHU035925
http://purl.bioontology.org/ontology/OMIM/MTHU035926
http://purl.bioontology.org/ontology/OMIM/MTHU035917
http://purl.bioontology.org/ontology/OMIM/MTHU035914
http://purl.bioontology.org/ontology/OMIM/MTHU005345
http://purl.bioontology.org/ontology/OMIM/MTHU035910
http://purl.bioontology.org/ontology/OMIM/MTHU006054
http://purl.bioontology.org/ontology/OMIM/MTHU035909
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU050730
http://purl.bioontology.org/ontology/OMIM/MTHU035920
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU039814
http://purl.bioontology.org/ontology/OMIM/MTHU035911
http://purl.bioontology.org/ontology/OMIM/MTHU035924
http://purl.bioontology.org/ontology/OMIM/MTHU039813
http://purl.bioontology.org/ontology/OMIM/MTHU035927
http://purl.bioontology.org/ontology/OMIM/MTHU035921
http://purl.bioontology.org/ontology/OMIM/MTHU035904
http://purl.bioontology.org/ontology/OMIM/MTHU035916
http://purl.bioontology.org/ontology/OMIM/MTHU035907
http://purl.bioontology.org/ontology/OMIM/MTHU035902
http://purl.bioontology.org/ontology/OMIM/MTHU001429
http://purl.bioontology.org/ontology/OMIM/MTHU035913
http://purl.bioontology.org/ontology/OMIM/MTHU041147
http://purl.bioontology.org/ontology/OMIM/MTHU006492
http://purl.bioontology.org/ontology/OMIM/MTHU039815
http://purl.bioontology.org/ontology/OMIM/MTHU035906
http://purl.bioontology.org/ontology/OMIM/MTHU000268
http://purl.bioontology.org/ontology/OMIM/MTHU035931
http://purl.bioontology.org/ontology/OMIM/MTHU035923
http://purl.bioontology.org/ontology/OMIM/MTHU000166
http://purl.bioontology.org/ontology/OMIM/MTHU036834
http://purl.bioontology.org/ontology/OMIM/MTHU035918
http://purl.bioontology.org/ontology/OMIM/MTHU035912
http://purl.bioontology.org/ontology/OMIM/MTHU035908
http://purl.bioontology.org/ontology/OMIM/MTHU069305
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
17q11.2
tui
T047
cui
C3280817
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