Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PITT-HOPKINS SYNDROME
Synonyms

ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION
ID

http://purl.bioontology.org/ontology/OMIM/610954
altLabel

ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION

MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION

PTHS
cui

C1970431
Gene Locus

18q21.2
Gene Symbol

ITF2

TCF4

SEF2

FECD3

PTHS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021852

http://purl.bioontology.org/ontology/OMIM/MTHU041909

http://purl.bioontology.org/ontology/OMIM/MTHU021850

http://purl.bioontology.org/ontology/OMIM/MTHU043060

http://purl.bioontology.org/ontology/OMIM/MTHU004601

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU023475

http://purl.bioontology.org/ontology/OMIM/MTHU021854

http://purl.bioontology.org/ontology/OMIM/MTHU000514

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

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU009720

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU021839

http://purl.bioontology.org/ontology/OMIM/MTHU030054

http://purl.bioontology.org/ontology/OMIM/MTHU021837

http://purl.bioontology.org/ontology/OMIM/MTHU011134

http://purl.bioontology.org/ontology/OMIM/MTHU033854

http://purl.bioontology.org/ontology/OMIM/MTHU021847

http://purl.bioontology.org/ontology/OMIM/MTHU008070

http://purl.bioontology.org/ontology/OMIM/MTHU021849

http://purl.bioontology.org/ontology/OMIM/MTHU003629

http://purl.bioontology.org/ontology/OMIM/MTHU005783

http://purl.bioontology.org/ontology/OMIM/MTHU036517

http://purl.bioontology.org/ontology/OMIM/MTHU021841

http://purl.bioontology.org/ontology/OMIM/MTHU033853

http://purl.bioontology.org/ontology/OMIM/MTHU021835

http://purl.bioontology.org/ontology/OMIM/MTHU008361

http://purl.bioontology.org/ontology/OMIM/MTHU021853

http://purl.bioontology.org/ontology/OMIM/MTHU021851

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU000508

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU033855

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU021848

http://purl.bioontology.org/ontology/OMIM/MTHU021842

http://purl.bioontology.org/ontology/OMIM/MTHU042221

http://purl.bioontology.org/ontology/OMIM/MTHU021840

http://purl.bioontology.org/ontology/OMIM/MTHU021846

http://purl.bioontology.org/ontology/OMIM/MTHU021836

http://purl.bioontology.org/ontology/OMIM/MTHU021834

http://purl.bioontology.org/ontology/OMIM/MTHU000264

http://purl.bioontology.org/ontology/OMIM/MTHU021838

http://purl.bioontology.org/ontology/OMIM/MTHU006245

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

http://purl.bioontology.org/ontology/OMIM/MTHU033852
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610954
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PITT-HOPKINS SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537403 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537403 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060488 Human Disease Ontology 123 LOOM