Online Mendelian Inheritance in Man - SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/614800 http://purl.bioontology.org/ontology/OMIM/614800
Preferred Name	SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
Synonyms	SOPH SYNDROME SOPH
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SOPH SYNDROME SOPH
prefLabel	SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
Gene Symbol	SOPH NAG NBAS ILFS2
notation	614800
Scope Statement	Caused by mutation in the NBAS subunit of NRZ tethering complex gene (NBAS, 608025.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU069442 http://purl.bioontology.org/ontology/OMIM/MTHU040281 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU040283 http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU014454 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU040292 http://purl.bioontology.org/ontology/OMIM/MTHU006123 http://purl.bioontology.org/ontology/OMIM/MTHU040299 http://purl.bioontology.org/ontology/OMIM/MTHU040284 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU009720 http://purl.bioontology.org/ontology/OMIM/MTHU005347 http://purl.bioontology.org/ontology/OMIM/MTHU040290 http://purl.bioontology.org/ontology/OMIM/MTHU014887 http://purl.bioontology.org/ontology/OMIM/MTHU006808 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU029238 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU008428 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU009943 http://purl.bioontology.org/ontology/OMIM/MTHU040295 http://purl.bioontology.org/ontology/OMIM/MTHU040287 http://purl.bioontology.org/ontology/OMIM/MTHU040296 http://purl.bioontology.org/ontology/OMIM/MTHU040285 http://purl.bioontology.org/ontology/OMIM/MTHU040298 http://purl.bioontology.org/ontology/OMIM/MTHU002115 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU040297 http://purl.bioontology.org/ontology/OMIM/MTHU007951 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU040282 http://purl.bioontology.org/ontology/OMIM/MTHU040291 http://purl.bioontology.org/ontology/OMIM/MTHU000574 http://purl.bioontology.org/ontology/OMIM/MTHU040279 http://purl.bioontology.org/ontology/OMIM/MTHU012198 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU032275 http://purl.bioontology.org/ontology/OMIM/MTHU040286 http://purl.bioontology.org/ontology/OMIM/MTHU013392 http://purl.bioontology.org/ontology/OMIM/MTHU007699 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	2p24-p23
tui	T047
cui	C3541319

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