Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/617319 http://purl.bioontology.org/ontology/OMIM/617319
Preferred Name	ANTERIOR SEGMENT DYSGENESIS 8
Synonyms	ASGD8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ASGD8
prefLabel	ANTERIOR SEGMENT DYSGENESIS 8
Gene Symbol	ASGD8 CPAMD8 KIAA1283
notation	617319
Scope Statement	Caused by mutation in the complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein-8 gene (CPAMD8, 608841.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU053326 http://purl.bioontology.org/ontology/OMIM/MTHU032993 http://purl.bioontology.org/ontology/OMIM/MTHU070380 http://purl.bioontology.org/ontology/OMIM/MTHU057640 http://purl.bioontology.org/ontology/OMIM/MTHU036987 http://purl.bioontology.org/ontology/OMIM/MTHU024316 http://purl.bioontology.org/ontology/OMIM/MTHU037209 http://purl.bioontology.org/ontology/OMIM/MTHU004673 http://purl.bioontology.org/ontology/OMIM/MTHU045568 http://purl.bioontology.org/ontology/OMIM/MTHU013074 http://purl.bioontology.org/ontology/OMIM/MTHU057641 http://purl.bioontology.org/ontology/OMIM/MTHU057642 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	19p13.11
tui	T019
cui	C4310622

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