Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

OROFACIODIGITAL SYNDROME I

Synonyms

OFDS I

ID

http://purl.bioontology.org/ontology/OMIM/311200

altLabel

OFDS I

PAPILLON-LEAGE AND PSAUME SYNDROME

OFD1

ORAL-FACIAL-DIGITAL SYNDROME, TYPE I

cui

C1510460

Gene Locus

Xp22.3-p22.2

Gene Symbol

JBTS10

SGBS2

RP23

OFD1

CXorf5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU033024

http://purl.bioontology.org/ontology/OMIM/MTHU033028

http://purl.bioontology.org/ontology/OMIM/MTHU033020

http://purl.bioontology.org/ontology/OMIM/MTHU033026

http://purl.bioontology.org/ontology/OMIM/MTHU038324

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU004627

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU033030

http://purl.bioontology.org/ontology/OMIM/MTHU006123

http://purl.bioontology.org/ontology/OMIM/MTHU007063

http://purl.bioontology.org/ontology/OMIM/MTHU007069

http://purl.bioontology.org/ontology/OMIM/MTHU033032

http://purl.bioontology.org/ontology/OMIM/MTHU007067

http://purl.bioontology.org/ontology/OMIM/MTHU007061

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

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU036337

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

http://purl.bioontology.org/ontology/OMIM/MTHU007073

http://purl.bioontology.org/ontology/OMIM/MTHU007079

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU007071

http://purl.bioontology.org/ontology/OMIM/MTHU007077

http://purl.bioontology.org/ontology/OMIM/MTHU007089

http://purl.bioontology.org/ontology/OMIM/MTHU007083

http://purl.bioontology.org/ontology/OMIM/MTHU007081

http://purl.bioontology.org/ontology/OMIM/MTHU007087

http://purl.bioontology.org/ontology/OMIM/MTHU007075

http://purl.bioontology.org/ontology/OMIM/MTHU010259

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU033027

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU007091

http://purl.bioontology.org/ontology/OMIM/MTHU033019

http://purl.bioontology.org/ontology/OMIM/MTHU007085

http://purl.bioontology.org/ontology/OMIM/MTHU038325

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU033029

http://purl.bioontology.org/ontology/OMIM/MTHU033031

http://purl.bioontology.org/ontology/OMIM/MTHU033025

http://purl.bioontology.org/ontology/OMIM/MTHU033023

http://purl.bioontology.org/ontology/OMIM/MTHU033021

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

http://purl.bioontology.org/ontology/OMIM/MTHU007070

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

http://purl.bioontology.org/ontology/OMIM/MTHU007066

http://purl.bioontology.org/ontology/OMIM/MTHU007064

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

http://purl.bioontology.org/ontology/OMIM/MTHU007062

http://purl.bioontology.org/ontology/OMIM/MTHU007068

http://purl.bioontology.org/ontology/OMIM/MTHU000574

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU007086

http://purl.bioontology.org/ontology/OMIM/MTHU007074

http://purl.bioontology.org/ontology/OMIM/MTHU007078

http://purl.bioontology.org/ontology/OMIM/MTHU007072

http://purl.bioontology.org/ontology/OMIM/MTHU007076

http://purl.bioontology.org/ontology/OMIM/MTHU007080

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

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU016093

http://purl.bioontology.org/ontology/OMIM/MTHU007084

http://purl.bioontology.org/ontology/OMIM/MTHU007082

http://purl.bioontology.org/ontology/OMIM/MTHU007088

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

311200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OROFACIODIGITAL SYNDROME I

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D009958 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.obolibrary.org/obo/DOID_0060316 Human Disease Ontology 123 LOOM