Online Mendelian Inheritance in Man - SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617877 http://purl.bioontology.org/ontology/OMIM/617877
Preferred Name	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
Synonyms	SSFSC1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SSFSC1
prefLabel	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
Gene Symbol	BDA2 SSFSC1 BMP2 BMP2A
Scope Statement	Caused by mutation in the bone morphogenetic protein-2 gene (BMP2, 112261.0003) [MOLECULAR BASIS] Phenotypic variability, both inter- and intrafamilial [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004401 http://purl.bioontology.org/ontology/OMIM/MTHU007225 http://purl.bioontology.org/ontology/OMIM/MTHU060821 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU008513 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU037189 http://purl.bioontology.org/ontology/OMIM/MTHU060830 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU036568 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU060832 http://purl.bioontology.org/ontology/OMIM/MTHU001467 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU051782 http://purl.bioontology.org/ontology/OMIM/MTHU060826 http://purl.bioontology.org/ontology/OMIM/MTHU060827 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU060822 http://purl.bioontology.org/ontology/OMIM/MTHU003865 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU060831 http://purl.bioontology.org/ontology/OMIM/MTHU003705 http://purl.bioontology.org/ontology/OMIM/MTHU038236 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU000832 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU060824 http://purl.bioontology.org/ontology/OMIM/MTHU060823 http://purl.bioontology.org/ontology/OMIM/MTHU060825 http://purl.bioontology.org/ontology/OMIM/MTHU060833 http://purl.bioontology.org/ontology/OMIM/MTHU002681 http://purl.bioontology.org/ontology/OMIM/MTHU060820 http://purl.bioontology.org/ontology/OMIM/MTHU032275 http://purl.bioontology.org/ontology/OMIM/MTHU017081 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU033533 http://purl.bioontology.org/ontology/OMIM/MTHU070485 http://purl.bioontology.org/ontology/OMIM/MTHU011786 http://purl.bioontology.org/ontology/OMIM/MTHU004640 http://purl.bioontology.org/ontology/OMIM/MTHU008128 See more See less
tui	T047
Gene Locus	20p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617877
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5542952
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display