Preferred Name

OPITZ GBBB SYNDROME

Synonyms

OS

ID

http://purl.bioontology.org/ontology/OMIM/300000

altLabel

OS

OPITZ SYNDROME

OGS1, FORMERLY

HYPERTELORISM-HYPOSPADIAS SYNDROME

OPITZ GBBB SYNDROME, TYPE I, FORMERLY

GBBB1, FORMERLY

OPITZ SYNDROME, X-LINKED

OPITZ GBBB SYNDROME, X-LINKED

OPITZ BBBG SYNDROME, TYPE I, FORMERLY

OSX

TELECANTHUS-HYPOSPADIAS SYNDROME

OPITZ-G SYNDROME, TYPE I, FORMERLY

HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS

BBBG1, FORMERLY

GBBB

cui

C2936904

Gene Locus

Xp22

Gene Symbol

FXY

MID1

OSX

OGS1

GBBB

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU008660

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU008662

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU004091

http://purl.bioontology.org/ontology/OMIM/MTHU004156

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU008661

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

http://purl.bioontology.org/ontology/OMIM/MTHU004207

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

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU001447

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

300122

notation

300000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OPITZ GBBB SYNDROME

Scope Statement

Genetic heterogeneity (see 145410) [MISCELLANEOUS]

Caused by mutations in the midline 1 gene (MID1, 300552.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2745 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125487 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_0080697 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017138 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017138 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C567932 Medical Subject Headings / 医学主题词表 CUI