Phenotype: Wormian bones (HP:0002645)
Associated genes and diseases:
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
gene_symbol: P4HB
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: CRTAP
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: SEC24D
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: PRKG2
disease_id: OMIM:619638
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE
gene_symbol: ALDH18A1
disease_id: OMIM:616603
disease_name: CUTIS LAXA, AUTOSOMAL DOMINANT 3
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: PLOD2
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
gene_symbol: FKBP10
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: COL1A1
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:617821
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
gene_symbol: COL1A2
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: HPGD
disease_id: OMIM:259100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: MSX2
disease_id: OMIM:168500
disease_name: PARIETAL FORAMINA 1
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: SCN9A
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: WNK1
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: RETREG1
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: KIF1A
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: TENT5A
disease_id: OMIM:617952
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVIII
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: CREB3L1
disease_id: OMIM:616229
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVI
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: GORAB
disease_id: OMIM:231070
disease_name: GERODERMA OSTEODYSPLASTICUM
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
gene_symbol: LRP5
disease_id: ORPHA:2788
disease_name: Osteoporosis-pseudoglioma syndrome
OPPG
Ocular form of osteogenesis imperfecta
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII