Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the ribs (HP:0000772)help
Grandparent Node:
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Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
Parent Node:
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Aplasia/Hypoplasia of the ribs (HP:0006712)help
..Starting node
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Missing ribs (HP:0000921)help
Term ID: 921
Name: Missing ribs
Synonym: Absent ribs; Decreased rib number; Missing ribs
Definition: A developmental anomaly with absence of one or more ribs.
Comments:
Reference: HP:0000921
Genes and Diseases:
 
       Child Nodes:
........expand11 pairs of ribs (HP:0000878) help
........expand10 pairs of ribs (HP:0030300) help

 Sister Nodes: 
..expandShort ribs (HP:0000773) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000921HP:0000921Missing ribs0BMPER CL E G H16866766637ORPHA11914824154608699
HP:0000921HP:0000921Missing ribs0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0000921HP:0000921Missing ribs0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000921HP:0000921Missing ribs0HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM164515977608059
HP:0000921HP:0000921Missing ribs0MYF5 CL E G H4617618155OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES618155OMIM12267565159990
HP:0000921HP:0000921Missing ribs0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000921HP:0000921Missing ribs0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000921HP:0000921Missing ribs0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000921HP:0000921Missing ribs0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000921HP:0000921Missing ribs0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000921HP:0000921Missing ribs0TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM13629611605602427
HP:0000921HP:0000921Missing ribs0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000921HP:0000921Missing ribs0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0000921HP:0000921Missing ribs1BMPER CL E G H16866766637ORPHA11914824154608699
HP:0000921HP:0000921Missing ribs1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0000921HP:0000921Missing ribs1FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000921HP:0000921Missing ribs1HES7 CL E G H84667613686Spondylocostal dysostosis 4, autosomal recessive613686C3150942OMIM164515977608059
HP:0000921HP:0000921Missing ribs1MYF5 CL E G H4617618155OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES618155OMIM12267565159990
HP:0000921HP:0000921Missing ribs1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000921HP:0000921Missing ribs1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000921HP:0000921Missing ribs1RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000921HP:0000921Missing ribs1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000921HP:0000921Missing ribs1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000921HP:0000921Missing ribs1TBX6 CL E G H6911122600Spondylocostal dysostosis 5122600C1852521OMIM13629611605602427
HP:0000921HP:0000921Missing ribs1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000921HP:0000921Missing ribs1WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000921HP:0000921Missing ribs0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0000921HP:0000921Missing ribs0FBN1 CL E G H22002462ORPHA0272142843603134797
HP:0000921HP:0000921Missing ribs0FUZ CL E G H801993027Iris dysplasia hypertelorism deafnessORPHA053526219610622
HP:0000921HP:0000921Missing ribs0SKI CL E G H64972462ORPHA02450210896164780
HP:0000921HP:0000921Missing ribs0TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA03629611605602427
HP:0000921HP:0000921Missing ribs0VANGL1 CL E G H818393027Iris dysplasia hypertelorism deafnessORPHA02024015512610132
HP:0000921HP:0000921Missing ribs0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0000921HP:0000921Missing ribs1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0000921HP:0000921Missing ribs1FBN1 CL E G H22002462ORPHA0272142843603134797
HP:0000921HP:0000921Missing ribs1FUZ CL E G H801993027Iris dysplasia hypertelorism deafnessORPHA053526219610622
HP:0000921HP:0000921Missing ribs1SKI CL E G H64972462ORPHA02450210896164780
HP:0000921HP:0000921Missing ribs1TBX6 CL E G H69111797Delleman Oorthuys syndromeORPHA03629611605602427
HP:0000921HP:0000921Missing ribs1VANGL1 CL E G H818393027Iris dysplasia hypertelorism deafnessORPHA02024015512610132
HP:0000921HP:0000921Missing ribs1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657


Genes (37) :ATR B3GALT6 B3GAT3 BMP2 BMPER CCDC22 CENPJ CEP152 CHST3 FBN1 FLI1 FLNB FUZ GABRD GPX4 HDAC6 HES7 KCNAB2 LBR MYF5 PRDM16 PTPN11 RERE RNU4ATAC ROR2 RPS19 RSPO2 SIX6 SKI SNRPB SOX2 SOX9 TBC1D24 TBX6 VANGL1 WASHC5 WNT3

Diseases (33) :66637 608022 7 2462 2308 3027 613686 618155 151100 268310 3301 206900 1797 122600 220210 210600 271640 245600 617877 613676 613823 108720 1606 250220 300863 215140 210710 105650 117650 77298 140 114290 79500
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.