FRASER SYNDROME 1

FRASRS1

http://purl.bioontology.org/ontology/OMIM/219000

FRASRS1

FRASER SYNDROME

CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS

C4551480

C0265233

4q21

FRASRS1

FRAS1

http://purl.bioontology.org/ontology/OMIM/MTHU013624

http://purl.bioontology.org/ontology/OMIM/MTHU037211

http://purl.bioontology.org/ontology/OMIM/MTHU013621

http://purl.bioontology.org/ontology/OMIM/MTHU037353

http://purl.bioontology.org/ontology/OMIM/MTHU013634

http://purl.bioontology.org/ontology/OMIM/MTHU013628

http://purl.bioontology.org/ontology/OMIM/MTHU013631

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

http://purl.bioontology.org/ontology/OMIM/MTHU003467

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

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU002500

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

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU013627

http://purl.bioontology.org/ontology/OMIM/MTHU013622

http://purl.bioontology.org/ontology/OMIM/MTHU013625

http://purl.bioontology.org/ontology/OMIM/MTHU013623

http://purl.bioontology.org/ontology/OMIM/MTHU013629

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

http://purl.bioontology.org/ontology/OMIM/MTHU013632

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU013635

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU013630

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

http://purl.bioontology.org/ontology/OMIM/MTHU036799

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

http://purl.bioontology.org/ontology/OMIM/MTHU041826

http://purl.bioontology.org/ontology/OMIM/MTHU009125

http://purl.bioontology.org/ontology/OMIM/MTHU001370

Phenotype description, molecular basis known.

219000

3

pound

FRASER SYNDROME 1

Caused by mutation in the Fraser extracellular matrix complex subunit 1 gene (FRAS1, 607830.0001) [MOLECULAR BASIS]

Twenty-five percent of affected babies are stillborn [MISCELLANEOUS]

20% die before age one (usually secondary to renal or laryngeal defects) [MISCELLANEOUS]

T019

T047