Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/609070
http://purl.bioontology.org/ontology/OMIM/609070
Preferred Name

HEMOGLOBIN, HIGH ALTITUDE ADAPTATION
Synonyms
HALAH
HEMOGLOBIN, HIGH OXYGEN SATURATION OF
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HALAH
HEMOGLOBIN, HIGH OXYGEN SATURATION OF
prefLabel
HEMOGLOBIN, HIGH ALTITUDE ADAPTATION
Gene Symbol
ZMYND6
SM20
EGLN1
PHD2
C1orf12
HIFPH2
ECYT3
HALAH
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Scope Statement
Individuals do not develop erythrocytosis under hypoxic conditions [MISCELLANEOUS]
Caused by mutation in the egl-9 family hypoxia inducible factor 1 gene (EGLN1, 606425.0004) [MOLECULAR BASIS]
High frequency in Tibetan individuals [MISCELLANEOUS]
type
Has manifestation
tui
T033
Gene Locus
1q42-q43
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
609070
Semantic type UMLS property
Has inheritance type
cui
C1836778
OMIM Entry Type
3
OMIM MimType Value
pound
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