Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

HARTSFIELD SYNDROME
Synonyms

HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
ID

http://purl.bioontology.org/ontology/OMIM/615465
altLabel

HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE

HRTFDS
cui

C1845146
Gene Locus

8p11.2-p11.1
Gene Symbol

FGFR1

OGD

FLT2

ECCL

HH2

KAL2

HRTFDS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025626

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU004117

http://purl.bioontology.org/ontology/OMIM/MTHU008172

http://purl.bioontology.org/ontology/OMIM/MTHU003771

http://purl.bioontology.org/ontology/OMIM/MTHU008170

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU004501

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU013463

http://purl.bioontology.org/ontology/OMIM/MTHU037332

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU008171

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU004842

http://purl.bioontology.org/ontology/OMIM/MTHU044303

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU007803
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

300571
notation

615465
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HARTSFIELD SYNDROME
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564484 Medical Subject Headings CUI