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Preferred Name

CEREBROCOSTOMANDIBULAR SYNDROME
Synonyms

RIB GAP DEFECTS WITH MICROGNATHIA
ID

http://purl.bioontology.org/ontology/OMIM/117650
altLabel

RIB GAP DEFECTS WITH MICROGNATHIA

CCMS
cui

C0265342
Gene Locus

20p13
Gene Symbol

CCMS

SNRPB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003778

http://purl.bioontology.org/ontology/OMIM/MTHU067049

http://purl.bioontology.org/ontology/OMIM/MTHU036370

http://purl.bioontology.org/ontology/OMIM/MTHU019013

http://purl.bioontology.org/ontology/OMIM/MTHU019019

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU002592

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU019015

http://purl.bioontology.org/ontology/OMIM/MTHU003459

http://purl.bioontology.org/ontology/OMIM/MTHU001429

http://purl.bioontology.org/ontology/OMIM/MTHU019021

http://purl.bioontology.org/ontology/OMIM/MTHU036339

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

http://purl.bioontology.org/ontology/OMIM/MTHU067050

http://purl.bioontology.org/ontology/OMIM/MTHU019023

http://purl.bioontology.org/ontology/OMIM/MTHU019017

http://purl.bioontology.org/ontology/OMIM/MTHU007150

http://purl.bioontology.org/ontology/OMIM/MTHU036550

http://purl.bioontology.org/ontology/OMIM/MTHU007235

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU067048

http://purl.bioontology.org/ontology/OMIM/MTHU001150

http://purl.bioontology.org/ontology/OMIM/MTHU003208

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

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU056879

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU019018

http://purl.bioontology.org/ontology/OMIM/MTHU019022

http://purl.bioontology.org/ontology/OMIM/MTHU019016

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

http://purl.bioontology.org/ontology/OMIM/MTHU019014

http://purl.bioontology.org/ontology/OMIM/MTHU056883

http://purl.bioontology.org/ontology/OMIM/MTHU036549

http://purl.bioontology.org/ontology/OMIM/MTHU036338

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

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU019020

http://purl.bioontology.org/ontology/OMIM/MTHU056882

http://purl.bioontology.org/ontology/OMIM/MTHU003464

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU036551

http://purl.bioontology.org/ontology/OMIM/MTHU003484

http://purl.bioontology.org/ontology/OMIM/MTHU036439
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

117650
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CEREBROCOSTOMANDIBULAR SYNDROME
Scope Statement

Caused by mutation in the small nuclear ribonucleoprotein polypeptides B and B1 gene (SNRPB, 182282.0001) [MOLECULAR BASIS]

De novo mutation (in most patients) [MISCELLANEOUS]

Forty percent of patients die in the first year [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C562538 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562538 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0111248 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_1393 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_1393 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007301 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007301 Experimental Factor Ontology / 实验性因素本体 LOOM