Phenotype: Flared metaphysis (HP:0003015)
Associated genes and diseases:
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: CYP3A4
disease_id: OMIM:619073
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: MMP13
disease_id: OMIM:602111
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
gene_symbol: MMP13
disease_id: ORPHA:93356
disease_name: Spondyloepimetaphyseal dysplasia, Missouri type
SEMD type 2
SEMD, Missouri type
Spondyloepimetaphyseal dysplasia type 2
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: DDRGK1
disease_id: ORPHA:93352
disease_name: Spondyloepimetaphyseal dysplasia, Shohat type
SEMD, Shohat type
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: COL11A2
disease_id: OMIM:215150
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:93346
disease_name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: B3GALT6
disease_id: OMIM:615349
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: XYLT1
disease_id: ORPHA:370930
disease_name: XYLT1-CDG
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:156510
disease_name: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE