Symbol
Name
ID

Rab23
RAB23, member RAS oncogene family
MGI:99833

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Abnormal skull morphology

Frontal bossing

Brachycephaly

Cloverleaf skull

Craniosynostosis

Coronal craniosynostosis

Lambdoidal craniosynostosis

Sagittal craniosynostosis

Trigonocephaly

Turricephaly

Oxycephaly

Micrognathia

Retrognathia

Hypoplasia of the maxilla

Malar flattening

Large foramen magnum

Short neck

Genu valgum

Genu varum

Clinodactyly of the 5th finger

Postaxial hand polydactyly

Bilateral postaxial polydactyly

Pseudoepiphyses of the proximal phalanges of the hand

Aplasia/Hypoplasia of the middle phalanges of the hand

Aplasia of the middle phalanx of the hand

Complete duplication of proximal phalanx of the thumb

Broad thumb

Hitchhiker thumb

Deviation of finger

Duplication of the proximal phalanx of the hallux

Preaxial foot polydactyly

Aplasia/Hypoplasia of the middle phalanges of the toes

Toe syndactyly

Polydactyly

Postaxial polydactyly

Preaxial polydactyly

Short digit

Brachydactyly

Syndactyly

Cutaneous finger syndactyly

Finger syndactyly

Coxa valga

Coxa vara

Metatarsus adductus

Shallow acetabular fossae

Lateral displacement of patellae

Knee flexion contracture

Joint contracture of the hand

Sacral dimple

Camptodactyly

Flared iliac wing

Pectus carinatum

Pectus excavatum

Kyphoscoliosis

Scoliosis

Disease(s) Associated with RAB23

Carpenter syndrome

Mouse Phenotypes		spina bifida occulta	abnormal tarsal bone morphology	absent tibia	abnormal axial skeleton morphology	abnormal vertebral arch development	decreased bone mineral content
Availability	Mouse Genotype	spina bifida occulta	abnormal tarsal bone morphology	absent tibia	abnormal axial skeleton morphology	abnormal vertebral arch development	decreased bone mineral content
	Rab23^opb/Rab23^opb
	Rab23^{tm1b(EUCOMM)Wtsi}/Rab23⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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