Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

AGNATHIA-OTOCEPHALY COMPLEX
Synonyms

DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY
ID

http://purl.bioontology.org/ontology/OMIM/202650
altLabel

DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY

HOLOPROSENCEPHALY-AGNATHIA

AGOTC

OTOCEPHALY
cui

C0265242

C1876185
Gene Locus

1q24
Gene Symbol

PRRX1

PHOX1

PMX1

AGOTC
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041694

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU037231

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU012591

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU006799

http://purl.bioontology.org/ontology/OMIM/MTHU031609

http://purl.bioontology.org/ontology/OMIM/MTHU031612

http://purl.bioontology.org/ontology/OMIM/MTHU031600

http://purl.bioontology.org/ontology/OMIM/MTHU031606

http://purl.bioontology.org/ontology/OMIM/MTHU031604

http://purl.bioontology.org/ontology/OMIM/MTHU036924

http://purl.bioontology.org/ontology/OMIM/MTHU031610

http://purl.bioontology.org/ontology/OMIM/MTHU036377

http://purl.bioontology.org/ontology/OMIM/MTHU041693

http://purl.bioontology.org/ontology/OMIM/MTHU036879

http://purl.bioontology.org/ontology/OMIM/MTHU001833

http://purl.bioontology.org/ontology/OMIM/MTHU010422

http://purl.bioontology.org/ontology/OMIM/MTHU054554

http://purl.bioontology.org/ontology/OMIM/MTHU041692

http://purl.bioontology.org/ontology/OMIM/MTHU031608

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU037232

http://purl.bioontology.org/ontology/OMIM/MTHU037230

http://purl.bioontology.org/ontology/OMIM/MTHU005408

http://purl.bioontology.org/ontology/OMIM/MTHU031603

http://purl.bioontology.org/ontology/OMIM/MTHU031601

http://purl.bioontology.org/ontology/OMIM/MTHU014657

http://purl.bioontology.org/ontology/OMIM/MTHU014658
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

202650
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

AGNATHIA-OTOCEPHALY COMPLEX
tui

T019

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q18.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.obolibrary.org/obo/DOID_0060341 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537996 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562503 Medical Subject Headings CUI