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

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	HARTSFIELD SYNDROME
Synonyms	HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
ID	http://purl.bioontology.org/ontology/OMIM/615465
altLabel	HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
cui	C1845146
Gene Locus	8p11.2-p11.1
Gene Symbol	FGFR1 FLT2 HH2 HRTFDS ECCL OGD KAL2
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	300571
notation	615465
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HARTSFIELD SYNDROME
Scope Statement	Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1, 136350.0030) [MOLECULAR BASIS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564484	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/766032007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/766032007	SCTSPA	CUI
http://identifiers.org/omim/615465	REXO	LOOM
http://identifiers.org/omim/615465	GEXO	LOOM
http://identifiers.org/omim/615465	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/766032007	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_2117	ORDO	LOOM