Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/618022
http://purl.bioontology.org/ontology/OMIM/618022
Preferred Name

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
Synonyms
HFHRTRD
HHRRD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HFHRTRD
HHRRD
prefLabel
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
Gene Symbol
HHRRD
TETAMS2
CRISTIN2
RSPO2
notation
618022
Scope Statement
Intrafamilial phenotypic variability [MISCELLANEOUS]
Caused by mutation in the R-spondin 2 gene (RSPO2, 610575.0003) [MOLECULAR BASIS]
Based on report of 4 fetuses from 1 family (last curated June 2018) [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/MTHU048789
http://purl.bioontology.org/ontology/OMIM/MTHU009058
http://purl.bioontology.org/ontology/OMIM/MTHU062142
http://purl.bioontology.org/ontology/OMIM/MTHU013799
http://purl.bioontology.org/ontology/OMIM/MTHU062149
http://purl.bioontology.org/ontology/OMIM/MTHU062144
http://purl.bioontology.org/ontology/OMIM/MTHU062148
http://purl.bioontology.org/ontology/OMIM/MTHU017995
http://purl.bioontology.org/ontology/OMIM/MTHU062143
http://purl.bioontology.org/ontology/OMIM/MTHU062145
http://purl.bioontology.org/ontology/OMIM/MTHU014887
http://purl.bioontology.org/ontology/OMIM/MTHU062146
http://purl.bioontology.org/ontology/OMIM/MTHU062141
http://purl.bioontology.org/ontology/OMIM/MTHU005293
http://purl.bioontology.org/ontology/OMIM/MTHU002125
http://purl.bioontology.org/ontology/OMIM/MTHU062147
http://purl.bioontology.org/ontology/OMIM/MTHU003183
http://purl.bioontology.org/ontology/OMIM/MTHU017931
http://purl.bioontology.org/ontology/OMIM/MTHU001436
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
8q23.1
tui
T019
cui
C4747940
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