Entry Search - 268310 602337

Search: '268310 602337 (Search in: MIM number)'

Results: 2 entries.

* 602337. RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2
Cytogenetic location: 9q22.31, Genomic coordinates (GRCh38): 9:91,722,601-91,950,228
Matching terms: 602337
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q22.31	Brachydactyly, type B1	113000	AD	3
9q22.31	Robinow syndrome, autosomal recessive	268310	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 268310. ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1; RRS1
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED
Cytogenetic location: 9q22.31
Matching terms: 268310
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
9q22.31	Robinow syndrome, autosomal recessive	268310	AR	3	ROR2	602337

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Robinow syndrome - PS268310 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.33	Robinow syndrome, autosomal dominant 2	AD	3	616331	DVL1	601365
3p14.3	Robinow syndrome, autosomal dominant 1	AD	3	180700	WNT5A	164975
3q27.1	Robinow syndrome, autosomal dominant 3	AD	3	616894	DVL3	601368
9q22.31	Robinow syndrome, autosomal recessive	AR	3	268310	ROR2	602337
17p13.3	Robinow syndrome, autosomal recessive 2	AR	3	618529	NXN	612895

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Links
Testing GTR EuroGentest Autosomal recessive Robino… Robinow syndrome	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Autosomal recessive Robino… Robinow syndrome Gene Reviews GTR GARD Autosomal recessive Robino… Robinow syndrome OrphaNet Autosomal recessive Robino… Robinow syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 1507, 97360 DO: 0060764

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Search: 268310 602337 (Search in: MIM number)

Results: 2 entries.

* 602337. RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2
Cytogenetic location: 9q22.31, Genomic coordinates (GRCh38): 9:91,722,601-91,950,228
Matching terms: 602337

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Printed: June 1, 2024