Online Mendelian Inheritance in Man - RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618019 http://purl.bioontology.org/ontology/OMIM/618019
Preferred Name	RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY
Synonyms	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PHASK REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA SKPHA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PHASK REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA SKPHA
prefLabel	RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY
Gene Symbol	LBR PHASK PHA
Scope Statement	Caused by mutation in laminin B receptor (LBR, 600024.0001) [MOLECULAR BASIS] Spondylometaphyseal changes improve with age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075039 http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU075035 http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU020846 http://purl.bioontology.org/ontology/OMIM/MTHU075030 http://purl.bioontology.org/ontology/OMIM/MTHU075033 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU075031 http://purl.bioontology.org/ontology/OMIM/MTHU075037 http://purl.bioontology.org/ontology/OMIM/MTHU005323 http://purl.bioontology.org/ontology/OMIM/MTHU075040 http://purl.bioontology.org/ontology/OMIM/MTHU075036 http://purl.bioontology.org/ontology/OMIM/MTHU001494 http://purl.bioontology.org/ontology/OMIM/MTHU042138 http://purl.bioontology.org/ontology/OMIM/MTHU075032 http://purl.bioontology.org/ontology/OMIM/MTHU075034 http://purl.bioontology.org/ontology/OMIM/MTHU075029 http://purl.bioontology.org/ontology/OMIM/MTHU008913 http://purl.bioontology.org/ontology/OMIM/MTHU075038 http://purl.bioontology.org/ontology/OMIM/MTHU005316 http://purl.bioontology.org/ontology/OMIM/MTHU020849 See more See less
tui	T047
Gene Locus	1q42.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618019
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4747922
OMIM Entry Type	3
OMIM MimType Value	pound

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