Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

OTOPALATODIGITAL SYNDROME, TYPE I
Synonyms

OPD I SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/311300
altLabel

OPD I SYNDROME

FRONTOOTOPALATODIGITAL OSTEODYSPLASIA

OTOPALATODIGITAL SPECTRUM DISORDER

OPD1

OPD SYNDROME 1
cui

C2748918

C2748919

C0265251
Gene Locus

Xq28
Gene Symbol

FLN1

FLNA

MNS

CVD1

CSBS

OPD2

NHBP

FMD

OPD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU038330

http://purl.bioontology.org/ontology/OMIM/MTHU007041

http://purl.bioontology.org/ontology/OMIM/MTHU004625

http://purl.bioontology.org/ontology/OMIM/MTHU007031

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

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU028874

http://purl.bioontology.org/ontology/OMIM/MTHU007027

http://purl.bioontology.org/ontology/OMIM/MTHU007019

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU004211

http://purl.bioontology.org/ontology/OMIM/MTHU028725

http://purl.bioontology.org/ontology/OMIM/MTHU007017

http://purl.bioontology.org/ontology/OMIM/MTHU007020

http://purl.bioontology.org/ontology/OMIM/MTHU007026

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU007039

http://purl.bioontology.org/ontology/OMIM/MTHU007024

http://purl.bioontology.org/ontology/OMIM/MTHU007029

http://purl.bioontology.org/ontology/OMIM/MTHU007022

http://purl.bioontology.org/ontology/OMIM/MTHU004600

http://purl.bioontology.org/ontology/OMIM/MTHU000191

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

http://purl.bioontology.org/ontology/OMIM/MTHU007042

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU007032

http://purl.bioontology.org/ontology/OMIM/MTHU007036

http://purl.bioontology.org/ontology/OMIM/MTHU007030

http://purl.bioontology.org/ontology/OMIM/MTHU007034

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU036684

http://purl.bioontology.org/ontology/OMIM/MTHU005818

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

http://purl.bioontology.org/ontology/OMIM/MTHU028949

http://purl.bioontology.org/ontology/OMIM/MTHU007015

http://purl.bioontology.org/ontology/OMIM/MTHU007018

http://purl.bioontology.org/ontology/OMIM/MTHU028724

http://purl.bioontology.org/ontology/OMIM/MTHU020345

http://purl.bioontology.org/ontology/OMIM/MTHU028950

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

http://purl.bioontology.org/ontology/OMIM/MTHU007025

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

http://purl.bioontology.org/ontology/OMIM/MTHU005345

http://purl.bioontology.org/ontology/OMIM/MTHU007028

http://purl.bioontology.org/ontology/OMIM/MTHU002202

http://purl.bioontology.org/ontology/OMIM/MTHU036506

http://purl.bioontology.org/ontology/OMIM/MTHU007037

http://purl.bioontology.org/ontology/OMIM/MTHU007035

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU007038

http://purl.bioontology.org/ontology/OMIM/MTHU007033

http://purl.bioontology.org/ontology/OMIM/MTHU007023

http://purl.bioontology.org/ontology/OMIM/MTHU007021
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

311300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OTOPALATODIGITAL SYNDROME, TYPE I
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567578 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567577 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536065 Medical Subject Headings CUI