Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
Synonyms	CHNG4
ID	http://purl.bioontology.org/ontology/OMIM/275100
altLabel	CHNG4 TSH DEFICIENCY THYROID-STIMULATING HORMONE DEFICIENCY THYROTROPIN, BIOLOGICALLY INACTIVE PITUITARY CRETINISM THYROTROPIN DEFICIENCY, ISOLATED
cui	C1848794 C4082174 C3665349 C0271789
Gene Locus	1p13
Gene Symbol	CHNG4 TSHB
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022908 http://purl.bioontology.org/ontology/OMIM/MTHU022906 http://purl.bioontology.org/ontology/OMIM/MTHU028658 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU022907 http://purl.bioontology.org/ontology/OMIM/MTHU022905 http://purl.bioontology.org/ontology/OMIM/MTHU022903 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU004141 http://purl.bioontology.org/ontology/OMIM/MTHU000268 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU022904 http://purl.bioontology.org/ontology/OMIM/MTHU022902
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	275100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
tui	T049 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564765	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D007037	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C000610012	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C000603735	Medical Subject Headings	CUI