Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620662
http://purl.bioontology.org/ontology/OMIM/620662
Preferred Name

HOXHA-ALIU SYNDROME
Synonyms
HXAL
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HXAL
prefLabel
HOXHA-ALIU SYNDROME
Gene Symbol
ERI1
SEMDGC
HXAL
HEXO
Scope Statement
Variable digital anomalies [MISCELLANEOUS]
Variable dysmorphic features [MISCELLANEOUS]
Caused by mutation in the exoribonuclease-1 gene (ERI1, 608739.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU047091
http://purl.bioontology.org/ontology/OMIM/MTHU078008
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU078016
http://purl.bioontology.org/ontology/OMIM/MTHU078006
http://purl.bioontology.org/ontology/OMIM/MTHU078020
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU078023
http://purl.bioontology.org/ontology/OMIM/MTHU078014
http://purl.bioontology.org/ontology/OMIM/MTHU078015
http://purl.bioontology.org/ontology/OMIM/MTHU014897
http://purl.bioontology.org/ontology/OMIM/MTHU078019
http://purl.bioontology.org/ontology/OMIM/MTHU002392
http://purl.bioontology.org/ontology/OMIM/MTHU078007
http://purl.bioontology.org/ontology/OMIM/MTHU078011
http://purl.bioontology.org/ontology/OMIM/MTHU005636
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU078012
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU078017
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU017994
http://purl.bioontology.org/ontology/OMIM/MTHU078025
http://purl.bioontology.org/ontology/OMIM/MTHU078003
http://purl.bioontology.org/ontology/OMIM/MTHU022865
http://purl.bioontology.org/ontology/OMIM/MTHU005629
http://purl.bioontology.org/ontology/OMIM/MTHU078013
http://purl.bioontology.org/ontology/OMIM/MTHU078026
http://purl.bioontology.org/ontology/OMIM/MTHU078018
http://purl.bioontology.org/ontology/OMIM/MTHU078001
http://purl.bioontology.org/ontology/OMIM/MTHU078002
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU078027
http://purl.bioontology.org/ontology/OMIM/MTHU078004
http://purl.bioontology.org/ontology/OMIM/MTHU078028
http://purl.bioontology.org/ontology/OMIM/MTHU010787
http://purl.bioontology.org/ontology/OMIM/MTHU022923
http://purl.bioontology.org/ontology/OMIM/MTHU078021
http://purl.bioontology.org/ontology/OMIM/MTHU078010
http://purl.bioontology.org/ontology/OMIM/MTHU078022
http://purl.bioontology.org/ontology/OMIM/MTHU078005
http://purl.bioontology.org/ontology/OMIM/MTHU011134
http://purl.bioontology.org/ontology/OMIM/MTHU045573
http://purl.bioontology.org/ontology/OMIM/MTHU057514
http://purl.bioontology.org/ontology/OMIM/MTHU078009
http://purl.bioontology.org/ontology/OMIM/MTHU078024
http://purl.bioontology.org/ontology/OMIM/MTHU062752
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tui
T047
Gene Locus
8p23.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620662
Semantic type UMLS property
Has inheritance type
cui
C5882736
OMIM Entry Type
3
OMIM MimType Value
pound
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