Preferred Name

SONIC HEDGEHOG SIGNALING MOLECULE

Synonyms

HOLOPROSENCEPHALY 3

ID

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

altLabel

HOLOPROSENCEPHALY 3

SINGLE CENTRAL MAXILLARY INCISOR

SONIC HEDGEHOG

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 SIGNALING MOLECULE

tui

T028

T019

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D065707 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C564181 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566899 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.6 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C537342 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_118703 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM