Online Mendelian Inheritance in Man - CRANIOECTODERMAL DYSPLASIA 4 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614378 http://purl.bioontology.org/ontology/OMIM/614378
Preferred Name	CRANIOECTODERMAL DYSPLASIA 4
Synonyms	CED4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CED4
prefLabel	CRANIOECTODERMAL DYSPLASIA 4
Gene Symbol	NPHP13 SPGF72 CED4 SRTD5 WDR19 ATD5 See more See less
Scope Statement	Caused by mutation in the WD repeat-containing protein-19 gene (WDR19, 608151.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035750 http://purl.bioontology.org/ontology/OMIM/MTHU035756 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU074957 http://purl.bioontology.org/ontology/OMIM/MTHU069285 http://purl.bioontology.org/ontology/OMIM/MTHU018039 http://purl.bioontology.org/ontology/OMIM/MTHU035740 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU069287 http://purl.bioontology.org/ontology/OMIM/MTHU066145 http://purl.bioontology.org/ontology/OMIM/MTHU035741 http://purl.bioontology.org/ontology/OMIM/MTHU069290 http://purl.bioontology.org/ontology/OMIM/MTHU035764 http://purl.bioontology.org/ontology/OMIM/MTHU035738 http://purl.bioontology.org/ontology/OMIM/MTHU009087 http://purl.bioontology.org/ontology/OMIM/MTHU069288 http://purl.bioontology.org/ontology/OMIM/MTHU074961 http://purl.bioontology.org/ontology/OMIM/MTHU035742 http://purl.bioontology.org/ontology/OMIM/MTHU069286 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU011660 http://purl.bioontology.org/ontology/OMIM/MTHU069284 http://purl.bioontology.org/ontology/OMIM/MTHU074959 http://purl.bioontology.org/ontology/OMIM/MTHU035755 http://purl.bioontology.org/ontology/OMIM/MTHU035754 http://purl.bioontology.org/ontology/OMIM/MTHU069289 http://purl.bioontology.org/ontology/OMIM/MTHU074964 http://purl.bioontology.org/ontology/OMIM/MTHU002115 http://purl.bioontology.org/ontology/OMIM/MTHU033855 http://purl.bioontology.org/ontology/OMIM/MTHU005231 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU020990 http://purl.bioontology.org/ontology/OMIM/MTHU013692 http://purl.bioontology.org/ontology/OMIM/MTHU035760 http://purl.bioontology.org/ontology/OMIM/MTHU024955 http://purl.bioontology.org/ontology/OMIM/MTHU074962 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU074958 http://purl.bioontology.org/ontology/OMIM/MTHU019161 http://purl.bioontology.org/ontology/OMIM/MTHU035746 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU033186 http://purl.bioontology.org/ontology/OMIM/MTHU074960 http://purl.bioontology.org/ontology/OMIM/MTHU007930 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU007674 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU035743 http://purl.bioontology.org/ontology/OMIM/MTHU074963 http://purl.bioontology.org/ontology/OMIM/MTHU018321 See more See less
tui	T047
Gene Locus	4p14-p11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614378
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280616
OMIM Entry Type	3
OMIM MimType Value	pound

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