Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
Synonyms

HYPOTHYROIDISM, ATHYREOTIC
ID

http://purl.bioontology.org/ontology/OMIM/218700
altLabel

HYPOTHYROIDISM, ATHYREOTIC

CHNG2

THYROID DYSGENESIS

RESISTANCE TO THYROTROPIN

HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS

THYROTROPIN RESISTANCE

RTSH

THYROID, ECTOPIC

THYROID HYPOPLASIA

THYROID AGENESIS

ATHYREOTIC HYPOTHYROIDISM
cui

C1869118

C0151516

C0749420

C0266283

C2940786

C1563716
Gene Locus

2q12-q14
Gene Symbol

PAX8
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022908

http://purl.bioontology.org/ontology/OMIM/MTHU053631

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU011872

http://purl.bioontology.org/ontology/OMIM/MTHU006431

http://purl.bioontology.org/ontology/OMIM/MTHU053629

http://purl.bioontology.org/ontology/OMIM/MTHU053627

http://purl.bioontology.org/ontology/OMIM/MTHU025331

http://purl.bioontology.org/ontology/OMIM/MTHU037391

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU053632

http://purl.bioontology.org/ontology/OMIM/MTHU053630

http://purl.bioontology.org/ontology/OMIM/MTHU001732

http://purl.bioontology.org/ontology/OMIM/MTHU053634

http://purl.bioontology.org/ontology/OMIM/MTHU053637

http://purl.bioontology.org/ontology/OMIM/MTHU001215

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU000388

http://purl.bioontology.org/ontology/OMIM/MTHU053628

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU053626

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU053635

http://purl.bioontology.org/ontology/OMIM/MTHU053638

http://purl.bioontology.org/ontology/OMIM/MTHU053633

http://purl.bioontology.org/ontology/OMIM/MTHU053636
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

218700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
tui

T019

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566852 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566852 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E03.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D018382 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D050033 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D050033 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D050033 Medical Subject Headings CUI