Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/191830
http://purl.bioontology.org/ontology/OMIM/191830
Preferred Name

RENAL HYPODYSPLASIA/APLASIA 1
Synonyms
RHDA1
RENAL AGENESIS
HEREDITARY RENAL APLASIA
RENAL ADYSPLASIA
RENAL APLASIA
HRA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RHDA1
RENAL AGENESIS
HEREDITARY RENAL APLASIA
RENAL ADYSPLASIA
RENAL APLASIA
HRA
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prefLabel
RENAL HYPODYSPLASIA/APLASIA 1
Gene Symbol
RHDA1
ITGA8
Scope Statement
Death in utero or in the perinatal period [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Caused by mutation in the integrin, alpha-8 gene (ITGA8, 604063.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU041646
http://purl.bioontology.org/ontology/OMIM/MTHU041640
http://purl.bioontology.org/ontology/OMIM/MTHU010279
http://purl.bioontology.org/ontology/OMIM/MTHU010082
http://purl.bioontology.org/ontology/OMIM/MTHU004827
http://purl.bioontology.org/ontology/OMIM/MTHU004124
http://purl.bioontology.org/ontology/OMIM/MTHU041642
http://purl.bioontology.org/ontology/OMIM/MTHU003455
http://purl.bioontology.org/ontology/OMIM/MTHU041641
http://purl.bioontology.org/ontology/OMIM/MTHU001153
http://purl.bioontology.org/ontology/OMIM/MTHU041645
http://purl.bioontology.org/ontology/OMIM/MTHU041647
http://purl.bioontology.org/ontology/OMIM/MTHU010683
http://purl.bioontology.org/ontology/OMIM/MTHU041643
http://purl.bioontology.org/ontology/OMIM/MTHU041644
http://purl.bioontology.org/ontology/OMIM/MTHU005802
http://purl.bioontology.org/ontology/OMIM/MTHU036334
http://purl.bioontology.org/ontology/OMIM/MTHU041334
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tui
T019
Gene Locus
10p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
191830
Semantic type UMLS property
Has inheritance type
cui
C1619700
OMIM Entry Type
3
OMIM MimType Value
pound
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