Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Jump to:
Id http://purl.bioontology.org/ontology/OMIM/618572
http://purl.bioontology.org/ontology/OMIM/618572
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Synonyms
NEDCHS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDCHS
prefLabel
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Gene Symbol
INTS8
NEDCHS
INT8
notation
618572
Scope Statement
Caused by mutation in the integrator complex subunit 8 gene (INTS8, 611351.0001) [MOLECULAR BASIS]
Three sibs have been reported (last curated September 2019) [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000269
http://purl.bioontology.org/ontology/OMIM/MTHU064174
http://purl.bioontology.org/ontology/OMIM/MTHU017295
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU066253
http://purl.bioontology.org/ontology/OMIM/MTHU042504
http://purl.bioontology.org/ontology/OMIM/MTHU014887
http://purl.bioontology.org/ontology/OMIM/MTHU003768
http://purl.bioontology.org/ontology/OMIM/MTHU059862
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU049263
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU000470
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU008796
http://purl.bioontology.org/ontology/OMIM/MTHU066252
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU000242
See more
See less
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
8q22.1
tui
T047
cui
C5231415
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
  • Problem retrieving properties: