Online Mendelian Inheritance in Man - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/302960 http://purl.bioontology.org/ontology/OMIM/302960
Preferred Name	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
Synonyms	HAPPLE SYNDROME CONRADI-HUNERMANN SYNDROME CDPX2 CPXD CONRADI-HUNERMANN-HAPPLE SYNDROME CDPXD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HAPPLE SYNDROME CONRADI-HUNERMANN SYNDROME CDPX2 CPXD CONRADI-HUNERMANN-HAPPLE SYNDROME CDPXD See more See less
prefLabel	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
Gene Symbol	CDPX2 MEND EBP CPXD CPX
Scope Statement	Caused by mutation in the emopamil-binding protein gene (EBP, 300205.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] Skin erythroderma may resolve early, leaving atrophic lesions [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Virtually all patients are female [MISCELLANEOUS] Surviving males are postzygotic mosaic for EBP mutations [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007982 http://purl.bioontology.org/ontology/OMIM/MTHU007967 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU007987 http://purl.bioontology.org/ontology/OMIM/MTHU007977 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU007983 http://purl.bioontology.org/ontology/OMIM/MTHU007979 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU007980 http://purl.bioontology.org/ontology/OMIM/MTHU007969 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU007972 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000702 http://purl.bioontology.org/ontology/OMIM/MTHU036527 http://purl.bioontology.org/ontology/OMIM/MTHU028867 http://purl.bioontology.org/ontology/OMIM/MTHU007971 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU007975 http://purl.bioontology.org/ontology/OMIM/MTHU007978 http://purl.bioontology.org/ontology/OMIM/MTHU021458 http://purl.bioontology.org/ontology/OMIM/MTHU007974 http://purl.bioontology.org/ontology/OMIM/MTHU036562 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU002944 http://purl.bioontology.org/ontology/OMIM/MTHU007981 http://purl.bioontology.org/ontology/OMIM/MTHU007478 http://purl.bioontology.org/ontology/OMIM/MTHU007976 http://purl.bioontology.org/ontology/OMIM/MTHU022672 http://purl.bioontology.org/ontology/OMIM/MTHU007970 http://purl.bioontology.org/ontology/OMIM/MTHU007477 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU007985 http://purl.bioontology.org/ontology/OMIM/MTHU007973 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU007984 http://purl.bioontology.org/ontology/OMIM/MTHU007966 See more See less
tui	T047
Gene Locus	Xp11.23-p11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	302960
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU003993
cui	C0282102
OMIM Entry Type	3
OMIM MimType Value	pound

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