Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1

Synonyms

DRS1

ID

http://purl.bioontology.org/ontology/OMIM/180700

altLabel

DRS1

ROBINOW DWARFISM

ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES

FETAL FACE SYNDROME

cui

C0265205

Gene Locus

3p21-p14

Gene Symbol

WNT5A

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU005790

http://purl.bioontology.org/ontology/OMIM/MTHU031439

http://purl.bioontology.org/ontology/OMIM/MTHU031447

http://purl.bioontology.org/ontology/OMIM/MTHU031432

http://purl.bioontology.org/ontology/OMIM/MTHU031430

http://purl.bioontology.org/ontology/OMIM/MTHU031435

http://purl.bioontology.org/ontology/OMIM/MTHU031454

http://purl.bioontology.org/ontology/OMIM/MTHU031444

http://purl.bioontology.org/ontology/OMIM/MTHU031442

http://purl.bioontology.org/ontology/OMIM/MTHU031440

http://purl.bioontology.org/ontology/OMIM/MTHU031434

http://purl.bioontology.org/ontology/OMIM/MTHU031449

http://purl.bioontology.org/ontology/OMIM/MTHU001611

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

http://purl.bioontology.org/ontology/OMIM/MTHU031408

http://purl.bioontology.org/ontology/OMIM/MTHU031456

http://purl.bioontology.org/ontology/OMIM/MTHU031452

http://purl.bioontology.org/ontology/OMIM/MTHU031450

http://purl.bioontology.org/ontology/OMIM/MTHU031418

http://purl.bioontology.org/ontology/OMIM/MTHU009606

http://purl.bioontology.org/ontology/OMIM/MTHU031406

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU009607

http://purl.bioontology.org/ontology/OMIM/MTHU031428

http://purl.bioontology.org/ontology/OMIM/MTHU031426

http://purl.bioontology.org/ontology/OMIM/MTHU031411

http://purl.bioontology.org/ontology/OMIM/MTHU031416

http://purl.bioontology.org/ontology/OMIM/MTHU009598

http://purl.bioontology.org/ontology/OMIM/MTHU031414

http://purl.bioontology.org/ontology/OMIM/MTHU009604

http://purl.bioontology.org/ontology/OMIM/MTHU025775

http://purl.bioontology.org/ontology/OMIM/MTHU031423

http://purl.bioontology.org/ontology/OMIM/MTHU031438

http://purl.bioontology.org/ontology/OMIM/MTHU031421

http://purl.bioontology.org/ontology/OMIM/MTHU031436

http://purl.bioontology.org/ontology/OMIM/MTHU031424

http://purl.bioontology.org/ontology/OMIM/MTHU031445

http://purl.bioontology.org/ontology/OMIM/MTHU031433

http://purl.bioontology.org/ontology/OMIM/MTHU031448

http://purl.bioontology.org/ontology/OMIM/MTHU031446

http://purl.bioontology.org/ontology/OMIM/MTHU031431

http://purl.bioontology.org/ontology/OMIM/MTHU031451

http://purl.bioontology.org/ontology/OMIM/MTHU031455

http://purl.bioontology.org/ontology/OMIM/MTHU019018

http://purl.bioontology.org/ontology/OMIM/MTHU031443

http://purl.bioontology.org/ontology/OMIM/MTHU031441

http://purl.bioontology.org/ontology/OMIM/MTHU031409

http://purl.bioontology.org/ontology/OMIM/MTHU031453

http://purl.bioontology.org/ontology/OMIM/MTHU009599

http://purl.bioontology.org/ontology/OMIM/MTHU031419

http://purl.bioontology.org/ontology/OMIM/MTHU031417

http://purl.bioontology.org/ontology/OMIM/MTHU031415

http://purl.bioontology.org/ontology/OMIM/MTHU031413

http://purl.bioontology.org/ontology/OMIM/MTHU031407

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU009605

http://purl.bioontology.org/ontology/OMIM/MTHU031437

http://purl.bioontology.org/ontology/OMIM/MTHU031422

http://purl.bioontology.org/ontology/OMIM/MTHU025768

http://purl.bioontology.org/ontology/OMIM/MTHU031425

http://purl.bioontology.org/ontology/OMIM/MTHU031410

http://purl.bioontology.org/ontology/OMIM/MTHU031420

http://purl.bioontology.org/ontology/OMIM/MTHU031429

http://purl.bioontology.org/ontology/OMIM/MTHU009595

http://purl.bioontology.org/ontology/OMIM/MTHU031412

http://purl.bioontology.org/ontology/OMIM/MTHU031427

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

180700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1

tui

T047

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http://purl.bioontology.org/ontology/ICD10CM/Q87.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C562492 Medical Subject Headings CUI