Phenotype: Severe platyspondyly (HP:0004565)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: PHLDB1
disease_id: OMIM:620639
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXIII
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE