Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619616 http://purl.bioontology.org/ontology/OMIM/619616
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
Synonyms	NEDHLS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDHLS
prefLabel	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
Gene Symbol	AFG2B SPATA5L1 NEDHLS DFNB119
Scope Statement	Caused by mutation in the AFG2 AAA ATPase homolog B gene (AFG2B, 619578.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU074400 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU074398 http://purl.bioontology.org/ontology/OMIM/MTHU002392 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU059641 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU001237 http://purl.bioontology.org/ontology/OMIM/MTHU004136 http://purl.bioontology.org/ontology/OMIM/MTHU062534 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU037926 http://purl.bioontology.org/ontology/OMIM/MTHU003098 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU074399 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU004091 See more See less
tui	T047
Gene Locus	15q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619616
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5562024
OMIM Entry Type	3
OMIM MimType Value	pound

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