Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
loading...
Preferred Name

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
Synonyms

SADDAN DYSPLASIA

SADDAN
ID

http://purl.bioontology.org/ontology/OMIM/616482
altLabel

SADDAN DYSPLASIA

SADDAN
cui

C2674173
Gene Locus

4p16.3
Gene Symbol

ACH

FGFR3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU009274

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU002225

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU051899

http://purl.bioontology.org/ontology/OMIM/MTHU051904

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU051905

http://purl.bioontology.org/ontology/OMIM/MTHU051906

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU051897

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU051902

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU051898

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU002187

http://purl.bioontology.org/ontology/OMIM/MTHU036398

http://purl.bioontology.org/ontology/OMIM/MTHU013384

http://purl.bioontology.org/ontology/OMIM/MTHU051900

http://purl.bioontology.org/ontology/OMIM/MTHU005318

http://purl.bioontology.org/ontology/OMIM/MTHU051896

http://purl.bioontology.org/ontology/OMIM/MTHU041789

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU051903

http://purl.bioontology.org/ontology/OMIM/MTHU005513

http://purl.bioontology.org/ontology/OMIM/MTHU033675

http://purl.bioontology.org/ontology/OMIM/MTHU051901

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU036896

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU004934
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

616482
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
Scope Statement

Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0015) [MOLECULAR BASIS]

Clinical overlap with thanatophoric dysplasia I (187600) and severe achondroplasia (100800) [MISCELLANEOUS]
tui

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display