Online Mendelian Inheritance in Man - SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614813 http://purl.bioontology.org/ontology/OMIM/614813
Preferred Name	SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
Synonyms	SOFT SOFT SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SOFT SOFT SYNDROME
prefLabel	SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
Gene Symbol	PIX2 POC1A SOFT
Scope Statement	Caused by mutation in the POC1 centriolar protein A gene (POC1A, 614783.0001) [MOLECULAR BASIS] Waddling gait [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU001504 http://purl.bioontology.org/ontology/OMIM/MTHU069444 http://purl.bioontology.org/ontology/OMIM/MTHU000601 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU067886 http://purl.bioontology.org/ontology/OMIM/MTHU000506 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU040324 http://purl.bioontology.org/ontology/OMIM/MTHU040331 http://purl.bioontology.org/ontology/OMIM/MTHU002083 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU040333 http://purl.bioontology.org/ontology/OMIM/MTHU040338 http://purl.bioontology.org/ontology/OMIM/MTHU000580 http://purl.bioontology.org/ontology/OMIM/MTHU005636 http://purl.bioontology.org/ontology/OMIM/MTHU040336 http://purl.bioontology.org/ontology/OMIM/MTHU040325 http://purl.bioontology.org/ontology/OMIM/MTHU069445 http://purl.bioontology.org/ontology/OMIM/MTHU040335 http://purl.bioontology.org/ontology/OMIM/MTHU040337 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU005257 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU040339 http://purl.bioontology.org/ontology/OMIM/MTHU040334 http://purl.bioontology.org/ontology/OMIM/MTHU037275 http://purl.bioontology.org/ontology/OMIM/MTHU040328 http://purl.bioontology.org/ontology/OMIM/MTHU040323 http://purl.bioontology.org/ontology/OMIM/MTHU002674 http://purl.bioontology.org/ontology/OMIM/MTHU021361 http://purl.bioontology.org/ontology/OMIM/MTHU040330 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU009268 http://purl.bioontology.org/ontology/OMIM/MTHU069446 http://purl.bioontology.org/ontology/OMIM/MTHU001895 http://purl.bioontology.org/ontology/OMIM/MTHU001753 http://purl.bioontology.org/ontology/OMIM/MTHU003747 http://purl.bioontology.org/ontology/OMIM/MTHU040332 http://purl.bioontology.org/ontology/OMIM/MTHU040329 See more See less
tui	T047
Gene Locus	3p21.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614813
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3542022
OMIM Entry Type	3
OMIM MimType Value	pound

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