Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SONIC HEDGEHOG
Synonyms

HOLOPROSENCEPHALY 3
ID

http://purl.bioontology.org/ontology/OMIM/600725
altLabel

HOLOPROSENCEPHALY 3

SINGLE CENTRAL MAXILLARY INCISOR

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR

SHH

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5

SCHIZENCEPHALY
cui

C1840529

C1968843

C1840235

C0266484

C1335824
Gene Locus

7q36
Gene Symbol

HLP3

MCOPCB5

SMMCI

HPE3

SHH
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600725.0011

http://purl.bioontology.org/ontology/OMIM/600725.0002

http://purl.bioontology.org/ontology/OMIM/600725.0005

http://purl.bioontology.org/ontology/OMIM/600725.0003

http://purl.bioontology.org/ontology/OMIM/600725.0004

http://purl.bioontology.org/ontology/OMIM/600725.0015

http://purl.bioontology.org/ontology/OMIM/600725.0016

http://purl.bioontology.org/ontology/OMIM/600725.0009

http://purl.bioontology.org/ontology/OMIM/600725.0017

http://purl.bioontology.org/ontology/OMIM/600725.0018

http://purl.bioontology.org/ontology/OMIM/600725.0020

http://purl.bioontology.org/ontology/OMIM/600725.0001

http://purl.bioontology.org/ontology/OMIM/600725.0014

http://purl.bioontology.org/ontology/OMIM/600725.0012

http://purl.bioontology.org/ontology/OMIM/600725.0019

http://purl.bioontology.org/ontology/OMIM/600725.0013

http://purl.bioontology.org/ontology/OMIM/600725.0007

http://purl.bioontology.org/ontology/OMIM/600725.0006

http://purl.bioontology.org/ontology/OMIM/600725.0008

http://purl.bioontology.org/ontology/OMIM/600725.0010
MIMTYPEMEANING

Gene with known sequence
notation

600725
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

SONIC HEDGEHOG
tui

T028

T019

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D065707 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564181 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566899 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.6 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C537342 Medical Subject Headings CUI