Phenotype: Missing ribs (HP:0000921)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: CPLANE1
disease_id: OMIM:277170
disease_name: OROFACIODIGITAL SYNDROME VI
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: BMP2
disease_id: OMIM:617877
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: CPAP
disease_id: OMIM:613676
disease_name: SECKEL SYNDROME 4
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: RRAS2
disease_id: OMIM:618624
disease_name: NOONAN SYNDROME 12
gene_symbol: DNMT3A
disease_id: OMIM:618724
disease_name: HEYN-SPROUL-JACKSON SYNDROME
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SPEN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: HSPG2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: RERE
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
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: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: B4GAT1
disease_id: OMIM:615287
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
gene_symbol: KYNU
disease_id: OMIM:617661
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: BMPER
disease_id: ORPHA:66637
disease_name: Diaphanospondylodysostosis
DSD
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: VANGL1
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: FUZ
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: MYF5
disease_id: OMIM:618155
disease_name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
gene_symbol: IFT43
disease_id: OMIM:617866
disease_name: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
gene_symbol: TBX6
disease_id: ORPHA:1797
disease_name: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
gene_symbol: TBX6
disease_id: OMIM:122600
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 5
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME