Online Mendelian Inheritance in Man - HARTSFIELD SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615465 http://purl.bioontology.org/ontology/OMIM/615465
Preferred Name	HARTSFIELD SYNDROME
Synonyms	HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
prefLabel	HARTSFIELD SYNDROME
Gene Symbol	FGFR1 FLT2 HH2 HRTFDS ECCL OGD KAL2 See more See less
Scope Statement	Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1, 136350.0030) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU007803 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU008170 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000958 http://purl.bioontology.org/ontology/OMIM/MTHU004117 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU008171 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU007202 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU004842 http://purl.bioontology.org/ontology/OMIM/MTHU037332 http://purl.bioontology.org/ontology/OMIM/MTHU025626 http://purl.bioontology.org/ontology/OMIM/MTHU013463 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU003771 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	8p11.2-p11.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615465
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1845146
Moved from	300571
OMIM Entry Type	3
OMIM MimType Value	pound

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