Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS

Synonyms

SADDAN

ID

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

altLabel

SADDAN

SADDAN DYSPLASIA

cui

C2674173

Gene Locus

4p16.3

Gene Symbol

FGFR3

ACH

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU051909

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU038777

http://purl.bioontology.org/ontology/OMIM/MTHU045354

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU051907

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

http://purl.bioontology.org/ontology/OMIM/MTHU051908

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU039015

http://purl.bioontology.org/ontology/OMIM/MTHU037406

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

tui

T019

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http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings CUI