Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Grandparent Node:
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Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)help
Parent Node:
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Abnormal rib morphology (HP:0000772)help
Parent Node:
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Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
..Starting node
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Aplasia/Hypoplasia of the ribs (HP:0006712)help
Term ID: 6712
Name: Aplasia/Hypoplasia of the ribs
Synonym: Absent/small ribs; Absent/underdeveloped ribs; Hypoplastic or missing ribs
Definition:
Comments:
Reference: HP:0006712
Genes and Diseases:
 
       Child Nodes:
........expandShort ribs (HP:0000773) help
................... HP:0006657 Hypoplasia of first ribs
................... HP:0006668 Twelfth rib hypoplasia
........expandMissing ribs (HP:0000921) help
................... HP:0000878 11 pairs of ribs
................... HP:0030300 10 pairs of ribs

 Sister Nodes: 
..expandAplasia/Hypoplasia of the clavicles (HP:0006710) help
..expandAplasia/Hypoplasia of the scapulae (HP:0006713) help
..expandAplasia/Hypoplasia of the sternum (HP:0006714) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ALDH1A2 CL E G H885415472OMIM:620025
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0BMPER CL E G H16866724154ORPHA:66637Diaphanospondylodysostosis78
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4161
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2222
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2284
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta240
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive10
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0HNRNPR CL E G H102365047OMIM:620073
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly24
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0LAMA5 CL E G H39116485OMIM:6200765
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PAICS CL E G H106068587OMIM:619859
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PRIM1 CL E G H55579369OMIM:620005
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type58
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB166
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosis19
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 519
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal4
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0006712HP:0006712Aplasia/Hypoplasia of the ribs0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0006712HP:0000921Missing ribs1ALDH1A2 CL E G H885415472OMIM:620025
HP:0006712HP:0000773Short ribs1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0006712HP:0000773Short ribs1ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0006712HP:0000921Missing ribs1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0006712HP:0000921Missing ribs1ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0006712HP:0000921Missing ribs1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0006712HP:0000921Missing ribs1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0006712HP:0000921Missing ribs1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0006712HP:0000921Missing ribs1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0006712HP:0000921Missing ribs1BMPER CL E G H16866724154ORPHA:66637DiaphanospondylodysostosisHP:0040281 - Very frequent78
HP:0006712HP:0000921Missing ribs1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0006712HP:0000773Short ribs1C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0006712HP:0000921Missing ribs1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0006712HP:0000921Missing ribs1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0006712HP:0000921Missing ribs1CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4161
HP:0006712HP:0000773Short ribs1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0006712HP:0000921Missing ribs1CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0006712HP:0000921Missing ribs1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0006712HP:0000773Short ribs1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0006712HP:0000773Short ribs1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0006712HP:0000773Short ribs1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0006712HP:0000773Short ribs1COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0006712HP:0000773Short ribs1COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0006712HP:0000773Short ribs1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0006712HP:0000773Short ribs1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0006712HP:0000921Missing ribs1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0006712HP:0000773Short ribs1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0006712HP:0000773Short ribs1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0006712HP:0000773Short ribs1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0006712HP:0000773Short ribs1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0006712HP:0000773Short ribs1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006712HP:0000921Missing ribs1DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0006712HP:0000773Short ribs1DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0006712HP:0000773Short ribs1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0006712HP:0000773Short ribs1DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0006712HP:0000773Short ribs1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0006712HP:0000773Short ribs1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0006712HP:0000773Short ribs1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0006712HP:0000773Short ribs1DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0006712HP:0000773Short ribs1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0006712HP:0000773Short ribs1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0006712HP:0000773Short ribs1EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0006712HP:0000921Missing ribs1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0006712HP:0000773Short ribs1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0006712HP:0000773Short ribs1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0006712HP:0000773Short ribs1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0006712HP:0000773Short ribs1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0006712HP:0000921Missing ribs1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0006712HP:0000773Short ribs1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0006712HP:0000921Missing ribs1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0006712HP:0000921Missing ribs1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0006712HP:0000921Missing ribs1GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0006712HP:0000773Short ribs1GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0006712HP:0000773Short ribs1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0006712HP:0000773Short ribs1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0006712HP:0000921Missing ribs1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0006712HP:0000773Short ribs1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0006712HP:0000921Missing ribs1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0006712HP:0000921Missing ribs1HES7 CL E G H8466715977OMIM:613686Spondylocostal dysostosis 4, autosomal recessive.10
HP:0006712HP:0000921Missing ribs1HNRNPR CL E G H102365047OMIM:620073
HP:0006712HP:0000921Missing ribs1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0006712HP:0000773Short ribs1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0006712HP:0000773Short ribs1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0006712HP:0000773Short ribs1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactylyHP:0040283 - Occasional148
HP:0006712HP:0000773Short ribs1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0006712HP:0000921Missing ribs1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0006712HP:0000773Short ribs1IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0006712HP:0000773Short ribs1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0006712HP:0000773Short ribs1IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0006712HP:0000773Short ribs1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0006712HP:0000773Short ribs1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0006712HP:0000773Short ribs1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0006712HP:0000921Missing ribs1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0006712HP:0000773Short ribs1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0006712HP:0000773Short ribs1KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0006712HP:0000921Missing ribs1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0006712HP:0000773Short ribs1LAMA5 CL E G H39116485OMIM:6200765
HP:0006712HP:0000921Missing ribs1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0006712HP:0000773Short ribs1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0006712HP:0000773Short ribs1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0006712HP:0000921Missing ribs1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0006712HP:0000773Short ribs1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006712HP:0000921Missing ribs1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0006712HP:0000773Short ribs1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0006712HP:0000921Missing ribs1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0006712HP:0000921Missing ribs1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0006712HP:0000773Short ribs1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0006712HP:0000921Missing ribs1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006712HP:0000773Short ribs1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0006712HP:0000773Short ribs1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006712HP:0000773Short ribs1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0006712HP:0000773Short ribs1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0006712HP:0000921Missing ribs1PAICS CL E G H106068587OMIM:619859
HP:0006712HP:0000773Short ribs1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0006712HP:0000921Missing ribs1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0006712HP:0000773Short ribs1PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0006712HP:0000773Short ribs1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0006712HP:0000773Short ribs1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0006712HP:0000921Missing ribs1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0006712HP:0000921Missing ribs1PRIM1 CL E G H55579369OMIM:620005
HP:0006712HP:0000921Missing ribs1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0006712HP:0000773Short ribs1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0006712HP:0000773Short ribs1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0006712HP:0000773Short ribs1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0006712HP:0000773Short ribs1PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type.58
HP:0006712HP:0000773Short ribs1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0006712HP:0000921Missing ribs1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0006712HP:0000921Missing ribs1RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0006712HP:0000921Missing ribs1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0006712HP:0000921Missing ribs1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0006712HP:0000921Missing ribs1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0006712HP:0000921Missing ribs1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0006712HP:0000921Missing ribs1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0006712HP:0000773Short ribs1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0006712HP:0000773Short ribs1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006712HP:0000773Short ribs1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006712HP:0000921Missing ribs1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0006712HP:0000773Short ribs1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0006712HP:0000773Short ribs1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0006712HP:0000921Missing ribs1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0006712HP:0000921Missing ribs1SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0006712HP:0000921Missing ribs1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0006712HP:0000773Short ribs1SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0006712HP:0000773Short ribs1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0006712HP:0000773Short ribs1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0006712HP:0000773Short ribs1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0006712HP:0000773Short ribs1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0006712HP:0000921Missing ribs1SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome6
HP:0006712HP:0000921Missing ribs1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0006712HP:0000921Missing ribs1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0006712HP:0000921Missing ribs1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0006712HP:0000921Missing ribs1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0006712HP:0000921Missing ribs1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0006712HP:0000921Missing ribs1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0006712HP:0000921Missing ribs1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006712HP:0000773Short ribs1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0006712HP:0000773Short ribs1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0006712HP:0000921Missing ribs1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0006712HP:0000921Missing ribs1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0006712HP:0000921Missing ribs1TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosisHP:0040283 - Occasional19
HP:0006712HP:0000921Missing ribs1TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5.19
HP:0006712HP:0000921Missing ribs1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0006712HP:0000773Short ribs1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0006712HP:0000773Short ribs1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0006712HP:0000773Short ribs1TRPV6 CL E G H5550314006OMIM:618188Hyperparathyroidism, transient neonatal.4
HP:0006712HP:0000773Short ribs1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0006712HP:0000921Missing ribs1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0006712HP:0000773Short ribs1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0006712HP:0000921Missing ribs1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0006712HP:0000921Missing ribs1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0006712HP:0000921Missing ribs1WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0006712HP:0000773Short ribs1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0006712HP:0000773Short ribs1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0006712HP:0000773Short ribs1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0006712HP:0000921Missing ribs1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0006712HP:003030010 pairs of ribs2 CL E G H
HP:0006712HP:000087811 pairs of ribs2ALDH1A2 CL E G H885415472OMIM:620025
HP:0006712HP:000087811 pairs of ribs2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0006712HP:000087811 pairs of ribs2ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0006712HP:000087811 pairs of ribs2B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0006712HP:000087811 pairs of ribs2B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0006712HP:000087811 pairs of ribs2B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0006712HP:000087811 pairs of ribs2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0006712HP:000087811 pairs of ribs2CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0006712HP:000087811 pairs of ribs2CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4.161
HP:0006712HP:000087811 pairs of ribs2CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5HP:0040283 - Occasional146
HP:0006712HP:000087811 pairs of ribs2CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0006712HP:000087811 pairs of ribs2CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0006712HP:0006668Twelfth rib hypoplasia2CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0006712HP:000087811 pairs of ribs2DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0006712HP:000087811 pairs of ribs2FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0006712HP:000087811 pairs of ribs2GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0006712HP:000087811 pairs of ribs2GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0006712HP:000087811 pairs of ribs2HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaHP:0040283 - Occasional2
HP:0006712HP:000087811 pairs of ribs2HNRNPR CL E G H102365047OMIM:620073
HP:0006712HP:000087811 pairs of ribs2HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0006712HP:000087811 pairs of ribs2KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0006712HP:0006668Twelfth rib hypoplasia2KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0006712HP:000087811 pairs of ribs2KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0006712HP:000087811 pairs of ribs2LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0006712HP:0006657Hypoplasia of first ribs2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0006712HP:000087811 pairs of ribs2LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006712HP:000087811 pairs of ribs2MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006712HP:000087811 pairs of ribs2NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0006712HP:000087811 pairs of ribs2NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunctionHP:0040284 - Very rare
HP:0006712HP:000087811 pairs of ribs2PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006712HP:000087811 pairs of ribs2PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0006712HP:000087811 pairs of ribs2PRIM1 CL E G H55579369OMIM:620005
HP:0006712HP:000087811 pairs of ribs2PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0006712HP:000087811 pairs of ribs2RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0006712HP:000087811 pairs of ribs2RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0006712HP:000087811 pairs of ribs2RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0006712HP:000087811 pairs of ribs2RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0006712HP:000087811 pairs of ribs2SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0006712HP:0006657Hypoplasia of first ribs2SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0006712HP:0006657Hypoplasia of first ribs2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0006712HP:000087811 pairs of ribs2SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0006712HP:000087811 pairs of ribs2SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0006712HP:000087811 pairs of ribs2SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0006712HP:000087811 pairs of ribs2SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0006712HP:000087811 pairs of ribs2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0006712HP:000087811 pairs of ribs2SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0006712HP:000087811 pairs of ribs2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006712HP:000087811 pairs of ribs2SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0006712HP:000087811 pairs of ribs2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0006712HP:000087811 pairs of ribs2TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0006712HP:000087811 pairs of ribs2TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0006712HP:000087811 pairs of ribs2UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional


Genes (130) :ALDH1A2 ALG12 ALPL ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 BMPER C2CD3 CASZ1 CCDC22 CENPJ CEP120 CEP152 CHST3 COL11A1 COL11A2 COL2A1 CPLANE1 CSPP1 CUL7 DDR2 DDRGK1 DLK1 DNMT3A DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B ERMARD EVC EVC2 EZH2 FBN1 FGFR3 FIG4 FLI1 FLNA FLNB FUZ GABRD GNPTAB GPC3 GPC4 GPX4 HDAC6 HES7 HNRNPR HSPG2 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KCNAB2 KIAA0586 KMT2A KYNU LAMA5 LBR LMX1B LUZP1 MEG3 MMP23B MYF5 NALCN NEK1 NFASC NKX3-2 NSDHL ORC1 ORC6 PAICS PAM16 PDPN PLCB3 PORCN PRDM16 PRIM1 PRKCZ PTCH1 PTCH2 PTH1R PTPN11 PUF60 RERE RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 RTL1 RUNX2 SCARF2 SCUBE3 SETBP1 SF3B4 SIX6 SKI SLC26A2 SLC35D1 SMO SNRPB SOX2 SOX9 SPEN SRCAP SUFU TAPT1 TBC1D24 TBCK TBX6 TOR1A TRIP11 TRPV4 TRPV6 UBA1 UBE4B VAC14 VANGL1 WASHC5 WDR35 WNT3

Diseases (121) :OMIM:620025 OMIM:607143 OMIM:241500 ORPHA:79500 OMIM:210600 OMIM:271640 OMIM:245600 OMIM:615287 OMIM:617877 ORPHA:66637 OMIM:608022 OMIM:615948 ORPHA:1606 ORPHA:7 OMIM:613676 OMIM:616300 OMIM:613823 ORPHA:2021 OMIM:228520 OMIM:614524 ORPHA:93296 OMIM:200610 OMIM:151210 OMIM:277170 ORPHA:397715 OMIM:273750 OMIM:271665 OMIM:602557 ORPHA:96334 OMIM:618724 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:617088 OMIM:617405 ORPHA:75857 OMIM:225500 OMIM:277590 ORPHA:2462 OMIM:100800 OMIM:187600 OMIM:187601 ORPHA:3472 ORPHA:2308 OMIM:304120 OMIM:108720 ORPHA:3027 OMIM:252600 OMIM:312870 OMIM:250220 OMIM:300863 OMIM:613686 OMIM:620073 ORPHA:1865 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:617866 OMIM:617895 OMIM:607778 ORPHA:3144 OMIM:617925 OMIM:616546 ORPHA:319182 OMIM:617661 OMIM:620076 OMIM:215140 OMIM:161200 OMIM:618155 OMIM:616266 OMIM:263520 OMIM:618356 OMIM:613330 OMIM:308050 OMIM:224690 OMIM:613803 OMIM:619859 OMIM:613320 OMIM:618961 OMIM:305600 ORPHA:2092 OMIM:620005 OMIM:109400 ORPHA:50945 OMIM:215045 OMIM:156400 OMIM:151100 ORPHA:508498 OMIM:210710 OMIM:268310 OMIM:105650 OMIM:618624 ORPHA:3301 OMIM:119600 OMIM:600920 OMIM:619184 OMIM:269150 OMIM:154400 OMIM:206900 OMIM:600972 ORPHA:56304 OMIM:269250 OMIM:241800 OMIM:117650 ORPHA:77298 OMIM:114290 ORPHA:140 ORPHA:2044 OMIM:136140 OMIM:616897 ORPHA:488632 ORPHA:1797 OMIM:122600 OMIM:618947 OMIM:200600 OMIM:156530 OMIM:618188 ORPHA:1145 OMIM:220210 OMIM:613610 OMIM:614091
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.