Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1
Synonyms

PITUITARY HOMEOBOX 1
ID

http://purl.bioontology.org/ontology/OMIM/602149
altLabel

PITUITARY HOMEOBOX 1

PITX1

POTX

BFT

CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY

PITUITARY OTX-RELATED FACTOR

BACKFOOT, MOUSE, HOMOLOG OF

PTX1
cui

C1418595

C0009081
Gene Locus

5q31
Gene Symbol

PITX1

LBNBG

POTX

BFT

CCF

PTX1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602149.0002

http://purl.bioontology.org/ontology/OMIM/602149.0001
MIMTYPEMEANING

Gene with known sequence
notation

602149
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1
tui

T028

T019
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http://purl.bioontology.org/ontology/ICD10/Q66.0 International Classification of Diseases, Version 10 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q66.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q66.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q66.89 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D003025 Medical Subject Headings CUI