Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PAIRED-LIKE HOMEOBOX 2B

Synonyms

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL

ID

http://purl.bioontology.org/ontology/OMIM/603851

altLabel

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL

PAIRED MESODERM HOMEOBOX 2B

PHOX2B

NEUROBLASTOMA PAIRED-TYPE HOMEOBOX GENE

PMX2B

CENTRAL HYPOVENTILATION SYNDROME, LATE-ONSET

CCHS WITH HIRSCHSPRUNG DISEASE

NBPHOX

NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE

NEUROBLASTOMA, SUSCEPTIBILITY TO, 2

cui

C1859049

C2751682

C1275808

C1418697

C1859050

C2751683

Gene Locus

4p12

Gene Symbol

PHOX2B

PMX2B

NBLST2

NBPHOX

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603851.0006

http://purl.bioontology.org/ontology/OMIM/603851.0001

http://purl.bioontology.org/ontology/OMIM/603851.0005

http://purl.bioontology.org/ontology/OMIM/603851.0007

http://purl.bioontology.org/ontology/OMIM/603851.0002

http://purl.bioontology.org/ontology/OMIM/603851.0003

http://purl.bioontology.org/ontology/OMIM/603851.0008

MIMTYPEMEANING

Gene with known sequence

notation

603851

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PAIRED-LIKE HOMEOBOX 2B

tui

T028

T019

T033

T047

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http://purl.bioontology.org/ontology/MESH/C536209 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536209 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538119 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP36422-1 Logical Observation Identifier Names and Codes CUI