Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the ribs (HP:0006712)help
Parent Node:
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Missing ribs (HP:0000921)help
..Starting node
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11 pairs of ribs (HP:0000878)help
Term ID: 878
Name: 11 pairs of ribs
Synonym: 11 pairs of ribs
Definition: Presence of only 11 pairs of ribs.
Comments:
Reference: HP:0000878
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand10 pairs of ribs (HP:0030300) 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:0000878HP:000087811 pairs of ribs0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000878HP:000087811 pairs of ribs0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0000878HP:000087811 pairs of ribs0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000878HP:000087811 pairs of ribs0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000878HP:000087811 pairs of ribs0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000878HP:000087811 pairs of ribs0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0000878HP:000087811 pairs of ribs0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000878HP:000087811 pairs of ribs0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000878HP:000087811 pairs of ribs0CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4.161
HP:0000878HP:000087811 pairs of ribs0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5HP:0040283 - Occasional146
HP:0000878HP:000087811 pairs of ribs0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000878HP:000087811 pairs of ribs0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000878HP:000087811 pairs of ribs0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000878HP:000087811 pairs of ribs0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0000878HP:000087811 pairs of ribs0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000878HP:000087811 pairs of ribs0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0000878HP:000087811 pairs of ribs0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaHP:0040283 - Occasional2
HP:0000878HP:000087811 pairs of ribs0HNRNPR CL E G H102365047OMIM:620073
HP:0000878HP:000087811 pairs of ribs0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000878HP:000087811 pairs of ribs0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000878HP:000087811 pairs of ribs0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0000878HP:000087811 pairs of ribs0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000878HP:000087811 pairs of ribs0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000878HP:000087811 pairs of ribs0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000878HP:000087811 pairs of ribs0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0000878HP:000087811 pairs of ribs0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunctionHP:0040284 - Very rare
HP:0000878HP:000087811 pairs of ribs0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000878HP:000087811 pairs of ribs0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000878HP:000087811 pairs of ribs0PRIM1 CL E G H55579369OMIM:620005
HP:0000878HP:000087811 pairs of ribs0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000878HP:000087811 pairs of ribs0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000878HP:000087811 pairs of ribs0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000878HP:000087811 pairs of ribs0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0000878HP:000087811 pairs of ribs0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000878HP:000087811 pairs of ribs0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000878HP:000087811 pairs of ribs0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000878HP:000087811 pairs of ribs0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000878HP:000087811 pairs of ribs0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040283 - Occasional33
HP:0000878HP:000087811 pairs of ribs0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000878HP:000087811 pairs of ribs0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0000878HP:000087811 pairs of ribs0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0000878HP:000087811 pairs of ribs0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000878HP:000087811 pairs of ribs0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000878HP:000087811 pairs of ribs0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0000878HP:000087811 pairs of ribs0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000878HP:000087811 pairs of ribs0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000878HP:000087811 pairs of ribs0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional


Genes (45) :ALDH1A2 ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 CASZ1 CENPJ CEP152 CHST3 CPLANE1 DNMT3A FLNB GABRD GPX4 HDAC6 HNRNPR HSPG2 KCNAB2 KYNU LBR LUZP1 MMP23B NALCN NFASC PDPN PRDM16 PRIM1 PRKCZ RERE RNU4ATAC RPS19 RRAS2 SCUBE3 SKI SNRPB SOX2 SOX9 SPEN SRCAP TBC1D24 TBCK TOR1A UBE4B

Diseases (33) :OMIM:620025 ORPHA:79500 OMIM:210600 OMIM:271640 OMIM:245600 OMIM:615287 OMIM:617877 ORPHA:1606 OMIM:613676 OMIM:613823 OMIM:277170 OMIM:618724 OMIM:108720 OMIM:250220 OMIM:300863 OMIM:620073 OMIM:617661 OMIM:215140 OMIM:616266 OMIM:618356 OMIM:620005 OMIM:210710 OMIM:105650 OMIM:618624 OMIM:619184 OMIM:117650 ORPHA:77298 OMIM:114290 ORPHA:140 ORPHA:2044 OMIM:136140 ORPHA:488632 OMIM:618947
 

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