Online Mendelian Inheritance in Man - NOGGIN - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	NOGGIN
Synonyms	STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM MULTIPLE SYNOSTOSES SYNDROME 1 BRACHYDACTYLY, TYPE B2 NOGGIN, MOUSE, HOMOLOG OF SYMPHALANGISM, PROXIMAL, 1A TARSAL-CARPAL COALITION SYNDROME NOG
ID	http://purl.bioontology.org/ontology/OMIM/602991
altLabel	STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM MULTIPLE SYNOSTOSES SYNDROME 1 BRACHYDACTYLY, TYPE B2 NOGGIN, MOUSE, HOMOLOG OF SYMPHALANGISM, PROXIMAL, 1A TARSAL-CARPAL COALITION SYNDROME NOG
cui	C3714899 C1969652 C1866656 C0342282 C1861305 C1417753
Gene Locus	17q22
Gene Symbol	SYM1 NOG SYNS1A
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/602991.0011 http://purl.bioontology.org/ontology/OMIM/602991.0013 http://purl.bioontology.org/ontology/OMIM/602991.0014 http://purl.bioontology.org/ontology/OMIM/602991.0018 http://purl.bioontology.org/ontology/OMIM/602991.0019 http://purl.bioontology.org/ontology/OMIM/602991.0016 http://purl.bioontology.org/ontology/OMIM/602991.0010 http://purl.bioontology.org/ontology/OMIM/602991.0012 http://purl.bioontology.org/ontology/OMIM/602991.0015 http://purl.bioontology.org/ontology/OMIM/602991.0017 http://purl.bioontology.org/ontology/OMIM/602991.0007 http://purl.bioontology.org/ontology/OMIM/602991.0004 http://purl.bioontology.org/ontology/OMIM/602991.0009 http://purl.bioontology.org/ontology/OMIM/602991.0002 http://purl.bioontology.org/ontology/OMIM/602991.0001 http://purl.bioontology.org/ontology/OMIM/602991.0008 http://purl.bioontology.org/ontology/OMIM/602991.0003 http://purl.bioontology.org/ontology/OMIM/602991.0005 http://purl.bioontology.org/ontology/OMIM/602991.0006
MIMTYPEMEANING	Gene with known sequence
notation	602991
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NOGGIN
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/770406002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/719305006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C536943	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/702312009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/770406002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C536943	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/719305006	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C536943	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702312009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C536943	MESH	CUI
http://purl.bioontology.org/ontology/RXNORM/1858663	RXNORM	LOOM
http://www.orpha.net/ORDO/Orphanet_123854	ORDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/18121	NIFSTD	LOOM
http://purl.jp/bio/4/id/200906037570218830	IOBC	LOOM
http://purl.obolibrary.org/obo/PR_000000021	PR	LOOM
http://purl.obolibrary.org/obo/PR_000000021	NIFSTD	LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Noggin	NRO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16557	HRDO	LOOM
http://purl.org/skeletome/bonedysplasia#P000132	BDO	LOOM