Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	OCCIPITAL HORN SYNDROME
Synonyms	OHS CUTIS LAXA, X-LINKED, FORMERLY EDS IX, FORMERLY EDS9, FORMERLY EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY
ID	http://purl.bioontology.org/ontology/OMIM/304150
altLabel	OHS CUTIS LAXA, X-LINKED, FORMERLY EDS IX, FORMERLY EDS9, FORMERLY EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY
cui	C0268353
Gene Locus	Xq12-q13
Gene Symbol	MK OHS HMNX ATP7A MNK
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU007837 http://purl.bioontology.org/ontology/OMIM/MTHU007851 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU007719 http://purl.bioontology.org/ontology/OMIM/MTHU007848 http://purl.bioontology.org/ontology/OMIM/MTHU007841 http://purl.bioontology.org/ontology/OMIM/MTHU004831 http://purl.bioontology.org/ontology/OMIM/MTHU001817 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU003181 http://purl.bioontology.org/ontology/OMIM/MTHU007836 http://purl.bioontology.org/ontology/OMIM/MTHU007834 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU007320 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU007852 http://purl.bioontology.org/ontology/OMIM/MTHU000559 http://purl.bioontology.org/ontology/OMIM/MTHU005888 http://purl.bioontology.org/ontology/OMIM/MTHU007835 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU007843 http://purl.bioontology.org/ontology/OMIM/MTHU007847 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU007838 http://purl.bioontology.org/ontology/OMIM/MTHU004146 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU007845 http://purl.bioontology.org/ontology/OMIM/MTHU007842 http://purl.bioontology.org/ontology/OMIM/MTHU007849 http://purl.bioontology.org/ontology/OMIM/MTHU007850 http://purl.bioontology.org/ontology/OMIM/MTHU000885 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU007846 http://purl.bioontology.org/ontology/OMIM/MTHU007839 http://purl.bioontology.org/ontology/OMIM/MTHU007840 http://purl.bioontology.org/ontology/OMIM/MTHU007844 http://purl.bioontology.org/ontology/OMIM/MTHU007311 http://purl.bioontology.org/ontology/OMIM/MTHU000487
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	304150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OCCIPITAL HORN SYNDROME
Scope Statement	Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, 300011.0002) [MOLECULAR BASIS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/59399004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C537860	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-90330	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40QP	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/59399004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X78Dc	RCD	CUI
http://purl.obolibrary.org/obo/DOID_0111272	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010572	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_7035	HRDO	LOOM
http://purl.obolibrary.org/obo/OMIM_304150	CCO	LOOM
http://purl.obolibrary.org/obo/DOID_0111272	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111272	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111272	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111272	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111272	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537860	RH-MESH	LOOM
rgo:10327	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_198	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/C537860	MESH	LOOM
http://purl.obolibrary.org/obo/DERMO_0001836	DERMO	LOOM
http://purl.bioontology.org/ontology/RCD/X40QP	RCD	LOOM
http://identifiers.org/omim/304150	REXO	LOOM
http://identifiers.org/omim/304150	GEXO	LOOM
http://identifiers.org/omim/304150	RETO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200581	NANDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010572	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010572	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010572	DOVES	LOOM
http://nanbyodata.jp/ontology/NANDO_1200654	NANDO	LOOM