Online Mendelian Inheritance in Man - INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
Synonyms	CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE
ID	http://purl.bioontology.org/ontology/OMIM/243000
altLabel	CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED HSAN2D CIP ASYMBOLIA FOR PAIN
cui	C4012054 C1855739
Gene Locus	2q24
Gene Symbol	HSAN2D PN1 GEFSP7 NENA SFNP SCN9A FEB3B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001812 http://purl.bioontology.org/ontology/OMIM/MTHU045454 http://purl.bioontology.org/ontology/OMIM/MTHU045452 http://purl.bioontology.org/ontology/OMIM/MTHU041975 http://purl.bioontology.org/ontology/OMIM/MTHU017450 http://purl.bioontology.org/ontology/OMIM/MTHU020696 http://purl.bioontology.org/ontology/OMIM/MTHU012097 http://purl.bioontology.org/ontology/OMIM/MTHU020692 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU045445 http://purl.bioontology.org/ontology/OMIM/MTHU001888 http://purl.bioontology.org/ontology/OMIM/MTHU045453 http://purl.bioontology.org/ontology/OMIM/MTHU045443 http://purl.bioontology.org/ontology/OMIM/MTHU045449 http://purl.bioontology.org/ontology/OMIM/MTHU045447 http://purl.bioontology.org/ontology/OMIM/MTHU045441 http://purl.bioontology.org/ontology/OMIM/MTHU041974 http://purl.bioontology.org/ontology/OMIM/MTHU045450 http://purl.bioontology.org/ontology/OMIM/MTHU045451 http://purl.bioontology.org/ontology/OMIM/MTHU012098 http://purl.bioontology.org/ontology/OMIM/MTHU012096 http://purl.bioontology.org/ontology/OMIM/MTHU000011 http://purl.bioontology.org/ontology/OMIM/MTHU041046 http://purl.bioontology.org/ontology/OMIM/MTHU045442 http://purl.bioontology.org/ontology/OMIM/MTHU045448 http://purl.bioontology.org/ontology/OMIM/MTHU045446 http://purl.bioontology.org/ontology/OMIM/MTHU045444
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	243000
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
tui	T033 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565467	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C565467	Medical Subject Headings	LOOM