Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Synonyms

OHD
ID

http://purl.bioontology.org/ontology/OMIM/209880
altLabel

OHD

AUTONOMIC CONTROL, CONGENITAL FAILURE OF

CCHS

ONDINE CURSE, CONGENITAL

ONDINE-HIRSCHSPRUNG DISEASE

HADDAD SYNDROME

CCHS WITH HIRSCHSPRUNG DISEASE
cui

C1859049

C1275808
Gene Locus

4p12
Gene Symbol

PHOX2B

PMX2B

NBLST2

NBPHOX
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU031706

http://purl.bioontology.org/ontology/OMIM/MTHU031704

http://purl.bioontology.org/ontology/OMIM/MTHU005946

http://purl.bioontology.org/ontology/OMIM/MTHU031700

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

http://purl.bioontology.org/ontology/OMIM/MTHU031710

http://purl.bioontology.org/ontology/OMIM/MTHU010646

http://purl.bioontology.org/ontology/OMIM/MTHU041738

http://purl.bioontology.org/ontology/OMIM/MTHU041736

http://purl.bioontology.org/ontology/OMIM/MTHU031699

http://purl.bioontology.org/ontology/OMIM/MTHU041734

http://purl.bioontology.org/ontology/OMIM/MTHU031695

http://purl.bioontology.org/ontology/OMIM/MTHU013400

http://purl.bioontology.org/ontology/OMIM/MTHU031709

http://purl.bioontology.org/ontology/OMIM/MTHU031701

http://purl.bioontology.org/ontology/OMIM/MTHU031705

http://purl.bioontology.org/ontology/OMIM/MTHU031703

http://purl.bioontology.org/ontology/OMIM/MTHU031697

http://purl.bioontology.org/ontology/OMIM/MTHU031707

http://purl.bioontology.org/ontology/OMIM/MTHU031711

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

http://purl.bioontology.org/ontology/OMIM/MTHU041735

http://purl.bioontology.org/ontology/OMIM/MTHU010868

http://purl.bioontology.org/ontology/OMIM/MTHU010647

http://purl.bioontology.org/ontology/OMIM/MTHU027125

http://purl.bioontology.org/ontology/OMIM/MTHU041739

http://purl.bioontology.org/ontology/OMIM/MTHU041737

http://purl.bioontology.org/ontology/OMIM/MTHU031698

http://purl.bioontology.org/ontology/OMIM/MTHU031702

http://purl.bioontology.org/ontology/OMIM/MTHU031708

http://purl.bioontology.org/ontology/OMIM/MTHU031696

http://purl.bioontology.org/ontology/OMIM/MTHU031694
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

209880
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
tui

T019

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536209 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536209 Medical Subject Headings CUI