Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/601356 http://purl.bioontology.org/ontology/OMIM/601356
Preferred Name	LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
notation	601356
Scope Statement	Neonatal lethality [MISCELLANEOUS]
OMIM MimType Value	perc
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	5
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU054236 http://purl.bioontology.org/ontology/OMIM/MTHU009220 http://purl.bioontology.org/ontology/OMIM/MTHU009541 http://purl.bioontology.org/ontology/OMIM/MTHU054235 http://purl.bioontology.org/ontology/OMIM/MTHU054234 http://purl.bioontology.org/ontology/OMIM/MTHU054237 http://purl.bioontology.org/ontology/OMIM/MTHU012276 http://purl.bioontology.org/ontology/OMIM/MTHU001976 http://purl.bioontology.org/ontology/OMIM/MTHU054239 http://purl.bioontology.org/ontology/OMIM/MTHU054238 http://purl.bioontology.org/ontology/OMIM/MTHU000585 See more See less
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
tui	T047
cui	C1832435

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