Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal thorax morphology (HP:0000765)help
Parent Node:
expand
Abnormal sternum morphology (HP:0000766)help
..Starting node
..expand
Pectus carinatum (HP:0000768)help
Term ID: 768
Name: Pectus carinatum
Synonym: Pigeon chest
Definition: A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Comments:
Reference: HP:0000768
Genes and Diseases:
 
       Child Nodes:
........expandSuperior pectus carinatum (HP:0000917) help

 Sister Nodes: 
..expandAbnormal sternal ossification (HP:0011863) help
..expandAbnormality of the xiphoid process (HP:0100892) help
..expandAplasia/Hypoplasia of the sternum (HP:0006714) help
..expandBifid sternum (HP:0010309) help
..expandBulging of the costochondral junction (HP:0000893) help
..expandPectus excavatum (HP:0000767) help
..expandProminent sternum (HP:0000884) help
..expandRachitic rosary (HP:0000897) help
..expandSternal punctate calcifications (HP:0006637) 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:0000768HP:0000768Pectus carinatum0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0000768HP:0000768Pectus carinatum0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040282 - Frequent72
HP:0000768HP:0000768Pectus carinatum0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040282 - Frequent76
HP:0000768HP:0000768Pectus carinatum0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0000768HP:0000768Pectus carinatum0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000768HP:0000768Pectus carinatum0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000768HP:0000768Pectus carinatum0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000768HP:0000768Pectus carinatum0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000768HP:0000768Pectus carinatum0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000768HP:0000768Pectus carinatum0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000768HP:0000768Pectus carinatum0ATP2B1 CL E G H490814OMIM:619910
HP:0000768HP:0000768Pectus carinatum0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000768HP:0000768Pectus carinatum0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000768HP:0000768Pectus carinatum0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000768HP:0000768Pectus carinatum0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional38
HP:0000768HP:0000768Pectus carinatum0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000768HP:0000768Pectus carinatum0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000768HP:0000768Pectus carinatum0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0000768HP:0000768Pectus carinatum0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000768HP:0000768Pectus carinatum0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0000768HP:0000768Pectus carinatum0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000768HP:0000768Pectus carinatum0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000768HP:0000768Pectus carinatum0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000768HP:0000768Pectus carinatum0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000768HP:0000768Pectus carinatum0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000768HP:0000768Pectus carinatum0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0000768HP:0000768Pectus carinatum0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000768HP:0000768Pectus carinatum0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0000768HP:0000768Pectus carinatum0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0000768HP:0000768Pectus carinatum0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000768HP:0000768Pectus carinatum0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000768HP:0000768Pectus carinatum0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0000768HP:0000768Pectus carinatum0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000768HP:0000768Pectus carinatum0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional284
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040282 - Frequent284
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture typeHP:0040284 - Very rare284
HP:0000768HP:0000768Pectus carinatum0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0000768HP:0000768Pectus carinatum0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0000768HP:0000768Pectus carinatum0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000768HP:0000768Pectus carinatum0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000768HP:0000768Pectus carinatum0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0000768HP:0000768Pectus carinatum0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0000768HP:0000768Pectus carinatum0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000768HP:0000768Pectus carinatum0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000768HP:0000768Pectus carinatum0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040283 - Occasional3
HP:0000768HP:0000768Pectus carinatum0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000768HP:0000768Pectus carinatum0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000768HP:0000768Pectus carinatum0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0000768HP:0000768Pectus carinatum0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0000768HP:0000768Pectus carinatum0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent1361
HP:0000768HP:0000768Pectus carinatum0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0000768HP:0000768Pectus carinatum0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000768HP:0000768Pectus carinatum0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0000768HP:0000768Pectus carinatum0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000768HP:0000768Pectus carinatum0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000768HP:0000768Pectus carinatum0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040282 - Frequent9
HP:0000768HP:0000768Pectus carinatum0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture typeHP:0040284 - Very rare9
HP:0000768HP:0000768Pectus carinatum0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000768HP:0000768Pectus carinatum0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000768HP:0000768Pectus carinatum0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0000768HP:0000768Pectus carinatum0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0000768HP:0000768Pectus carinatum0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0000768HP:0000768Pectus carinatum0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0000768HP:0000768Pectus carinatum0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000768HP:0000768Pectus carinatum0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000768HP:0000768Pectus carinatum0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0000768HP:0000768Pectus carinatum0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0000768HP:0000768Pectus carinatum0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia.
HP:0000768HP:0000768Pectus carinatum0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000768HP:0000768Pectus carinatum0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000768HP:0000768Pectus carinatum0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000768HP:0000768Pectus carinatum0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000768HP:0000768Pectus carinatum0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000768HP:0000768Pectus carinatum0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000768HP:0000768Pectus carinatum0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000768HP:0000768Pectus carinatum0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000768HP:0000768Pectus carinatum0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000768HP:0000768Pectus carinatum0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040283 - Occasional44
HP:0000768HP:0000768Pectus carinatum0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0000768HP:0000768Pectus carinatum0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000768HP:0000768Pectus carinatum0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0000768HP:0000768Pectus carinatum0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional
HP:0000768HP:0000768Pectus carinatum0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000768HP:0000768Pectus carinatum0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000768HP:0000768Pectus carinatum0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000768HP:0000768Pectus carinatum0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0000768HP:0000768Pectus carinatum0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000768HP:0000768Pectus carinatum0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000768HP:0000768Pectus carinatum0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0000768HP:0000768Pectus carinatum0LGI3 CL E G H20319018711OMIM:620007
HP:0000768HP:0000768Pectus carinatum0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000768HP:0000768Pectus carinatum0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000768HP:0000768Pectus carinatum0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000768HP:0000768Pectus carinatum0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000768HP:0000768Pectus carinatum0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000768HP:0000768Pectus carinatum0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000768HP:0000768Pectus carinatum0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000768HP:0000768Pectus carinatum0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0000768HP:0000768Pectus carinatum0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0000768HP:0000768Pectus carinatum0MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX.22
HP:0000768HP:0000768Pectus carinatum0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000768HP:0000768Pectus carinatum0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000768HP:0000768Pectus carinatum0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0000768HP:0000768Pectus carinatum0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0000768HP:0000768Pectus carinatum0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0000768HP:0000768Pectus carinatum0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000768HP:0000768Pectus carinatum0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1AHP:0040284 - Very rare166
HP:0000768HP:0000768Pectus carinatum0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0000768HP:0000768Pectus carinatum0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000768HP:0000768Pectus carinatum0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactylyHP:0040284 - Very rare101
HP:0000768HP:0000768Pectus carinatum0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000768HP:0000768Pectus carinatum0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000768HP:0000768Pectus carinatum0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0000768HP:0000768Pectus carinatum0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000768HP:0000768Pectus carinatum0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0000768HP:0000768Pectus carinatum0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000768HP:0000768Pectus carinatum0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000768HP:0000768Pectus carinatum0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000768HP:0000768Pectus carinatum0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000768HP:0000768Pectus carinatum0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000768HP:0000768Pectus carinatum0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000768HP:0000768Pectus carinatum0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040282 - Frequent77
HP:0000768HP:0000768Pectus carinatum0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000768HP:0000768Pectus carinatum0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0000768HP:0000768Pectus carinatum0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000768HP:0000768Pectus carinatum0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0000768HP:0000768Pectus carinatum0PLOD2 CL E G H53529082OMIM:609220Bruck syndrome 2.45
HP:0000768HP:0000768Pectus carinatum0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX.39
HP:0000768HP:0000768Pectus carinatum0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000768HP:0000768Pectus carinatum0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000768HP:0000768Pectus carinatum0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesisHP:0040283 - Occasional22
HP:0000768HP:0000768Pectus carinatum0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000768HP:0000768Pectus carinatum0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000768HP:0000768Pectus carinatum0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000768HP:0000768Pectus carinatum0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000768HP:0000768Pectus carinatum0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0000768HP:0000768Pectus carinatum0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000768HP:0000768Pectus carinatum0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0000768HP:0000768Pectus carinatum0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000768HP:0000768Pectus carinatum0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000768HP:0000768Pectus carinatum0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000768HP:0000768Pectus carinatum0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000768HP:0000768Pectus carinatum0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000768HP:0000768Pectus carinatum0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000768HP:0000768Pectus carinatum0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0000768HP:0000768Pectus carinatum0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000768HP:0000768Pectus carinatum0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000768HP:0000768Pectus carinatum0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000768HP:0000768Pectus carinatum0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000768HP:0000768Pectus carinatum0RPS6KA3 CL E G H619710432ORPHA:276630Symptomatic form of Coffin-Lowry syndrome in female carriersHP:0040283 - Occasional65
HP:0000768HP:0000768Pectus carinatum0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000768HP:0000768Pectus carinatum0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000768HP:0000768Pectus carinatum0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0000768HP:0000768Pectus carinatum0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000768HP:0000768Pectus carinatum0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent150
HP:0000768HP:0000768Pectus carinatum0SLC12A2 CL E G H655810911OMIM:619080KILQUIST SYNDROME; KILQS2
HP:0000768HP:0000768Pectus carinatum0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000768HP:0000768Pectus carinatum0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0000768HP:0000768Pectus carinatum0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000768HP:0000768Pectus carinatum0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000768HP:0000768Pectus carinatum0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0000768HP:0000768Pectus carinatum0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040283 - Occasional260
HP:0000768HP:0000768Pectus carinatum0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000768HP:0000768Pectus carinatum0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000768HP:0000768Pectus carinatum0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0000768HP:0000768Pectus carinatum0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000768HP:0000768Pectus carinatum0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000768HP:0000768Pectus carinatum0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000768HP:0000768Pectus carinatum0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000768HP:0000768Pectus carinatum0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000768HP:0000768Pectus carinatum0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome11
HP:0000768HP:0000768Pectus carinatum0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000768HP:0000768Pectus carinatum0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000768HP:0000768Pectus carinatum0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000768HP:0000768Pectus carinatum0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000768HP:0000768Pectus carinatum0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0000768HP:0000768Pectus carinatum0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0000768HP:0000768Pectus carinatum0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0000768HP:0000768Pectus carinatum0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5HP:0040283 - Occasional19
HP:0000768HP:0000768Pectus carinatum0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000768HP:0000768Pectus carinatum0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000768HP:0000768Pectus carinatum0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000768HP:0000768Pectus carinatum0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional239
HP:0000768HP:0000768Pectus carinatum0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040283 - Occasional253
HP:0000768HP:0000768Pectus carinatum0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000768HP:0000768Pectus carinatum0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent72
HP:0000768HP:0000768Pectus carinatum0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent44
HP:0000768HP:0000768Pectus carinatum0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0000768HP:0000768Pectus carinatum0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0000768HP:0000768Pectus carinatum0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000768HP:0000768Pectus carinatum0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000768HP:0000768Pectus carinatum0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040282 - Frequent171
HP:0000768HP:0000768Pectus carinatum0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000768HP:0000768Pectus carinatum0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0000768HP:0000768Pectus carinatum0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0000768HP:0000768Pectus carinatum0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0000768HP:0000768Pectus carinatum0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0000768HP:0000768Pectus carinatum0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000768HP:0000768Pectus carinatum0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000768HP:0000768Pectus carinatum0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0000768HP:0000768Pectus carinatum0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000768HP:0000768Pectus carinatum0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040282 - Frequent7
HP:0000768HP:0000768Pectus carinatum0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0000768HP:0000768Pectus carinatum0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000768HP:0000768Pectus carinatum0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0000768HP:0000768Pectus carinatum0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000768HP:0000768Pectus carinatum0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0000768HP:0000768Pectus carinatum0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type.10
HP:0000768HP:0000768Pectus carinatum0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000768HP:0000768Pectus carinatum0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000768HP:0000768Pectus carinatum0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000768HP:0000917Superior pectus carinatum1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000768HP:0000917Superior pectus carinatum1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000768HP:0000917Superior pectus carinatum1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0000768HP:0000917Superior pectus carinatum1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291


Genes (165) :ACP5 ACTB AGA AGRN AP1G1 ARL3 ARSB ASH1L ATAD3A ATP2B1 ATP7A B3GALT6 B3GAT3 B4GALT7 BGN BMP1 BMP2 BRAF CBL CBS CHAT CHRM3 CHST3 COG4 COL11A2 COL13A1 COL2A1 CSF1R DVL1 DVL3 DYM EVC EVC2 EXOC6B FAM149B1 FBN1 FBN2 FGFR2 FKBP10 FLNB FN1 FZD2 G6PC3 GALNS GLB1 GNPTG GORAB GPC3 GPC4 GTPBP2 GUSB GZF1 HBA1 HBA2 HDAC4 HNRNPH1 HNRNPH2 HRAS HSPG2 HYOU1 IHH IL6ST INPP5K IPO8 KANSL1 KIF7 KRAS KRT5 LGI3 LZTR1 MAN1B1 MAN2B1 MAP2K1 MARS2 MBTPS1 MBTPS2 MED25 MEGF8 MFAP5 MME MRAS MYH3 MYO9A NALCN NEK1 NEU1 NF1 NKAP NKX3-2 NOTCH2 NRAS NXN OBSL1 ORC1 PCGF2 PIEZO2 PIGS PLAA PLEKHM1 PLOD2 PPIB PPP1CB PPP1R21 PTF1A PTPN11 PYCR1 PYCR2 RAB33B RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RMRP RNF135 ROR2 RPS6KA3 RRAS RRAS2 SIL1 SKI SLC12A2 SLC18A3 SLC25A1 SLC2A10 SLC37A4 SLC5A7 SMAD3 SMS SNAP25 SNX14 SOS1 SOS2 SOX5 SOX9 SP7 SPRED2 SYT2 TBCD TBX3 TBX6 TELO2 TGDS TGFB3 TGFBR1 TGFBR2 TNFRSF11A TNFRSF11B TNNT1 TOE1 TRIP11 TRPS1 TRPV4 UBTF UCHL1 UPF3B VAMP1 VPS33A VPS37A WNT5A WNT7A XYLT1 XYLT2 ZDHHC9 ZEB2

Diseases (170) :ORPHA:1855 ORPHA:64755 ORPHA:93 ORPHA:98914 OMIM:619467 OMIM:618161 OMIM:253200 OMIM:617796 OMIM:617183 ORPHA:496790 OMIM:619910 OMIM:304150 ORPHA:198 ORPHA:536467 ORPHA:93359 OMIM:245600 OMIM:130070 OMIM:300106 OMIM:614856 ORPHA:261295 OMIM:115150 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:648 ORPHA:394 OMIM:236200 OMIM:100100 OMIM:618150 ORPHA:166100 OMIM:616720 OMIM:184250 OMIM:183900 ORPHA:93315 OMIM:184255 OMIM:271700 OMIM:618476 ORPHA:3107 OMIM:223800 ORPHA:239 OMIM:225500 OMIM:618763 OMIM:154700 OMIM:604308 ORPHA:284979 ORPHA:2462 OMIM:121050 OMIM:101200 OMIM:259450 OMIM:150250 OMIM:272460 OMIM:612541 OMIM:253000 ORPHA:79255 OMIM:252605 ORPHA:2078 OMIM:312870 OMIM:617988 OMIM:253220 OMIM:617662 ORPHA:98791 OMIM:619797 OMIM:620083 OMIM:300986 OMIM:218040 ORPHA:800 OMIM:255800 OMIM:233600 ORPHA:63446 OMIM:607778 OMIM:619750 ORPHA:559 ORPHA:60030 OMIM:619472 ORPHA:363958 ORPHA:363965 OMIM:607131 OMIM:609942 OMIM:619599 OMIM:620007 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:248500 ORPHA:309282 OMIM:616430 OMIM:618392 OMIM:301014 ORPHA:464738 OMIM:614976 OMIM:616166 OMIM:617018 ORPHA:497764 OMIM:178110 OMIM:615419 OMIM:263520 ORPHA:812 OMIM:601321 OMIM:193520 OMIM:301039 OMIM:613330 ORPHA:955 ORPHA:1507 OMIM:612921 OMIM:224690 OMIM:618371 ORPHA:2461 OMIM:618143 OMIM:617527 ORPHA:521426 OMIM:618107 OMIM:609220 OMIM:259440 OMIM:617506 OMIM:619383 OMIM:609069 OMIM:151100 ORPHA:481152 OMIM:615222 OMIM:212720 OMIM:614701 ORPHA:175 ORPHA:137634 ORPHA:192 OMIM:303600 ORPHA:276630 OMIM:182212 OMIM:619080 OMIM:208050 OMIM:619525 ORPHA:284984 OMIM:613795 OMIM:309583 ORPHA:3063 ORPHA:397709 ORPHA:313892 OMIM:616803 OMIM:114290 OMIM:613849 OMIM:619745 ORPHA:496641 ORPHA:3138 OMIM:122600 ORPHA:488642 OMIM:616145 OMIM:615582 OMIM:610168 ORPHA:2801 ORPHA:98902 OMIM:605355 OMIM:614969 OMIM:184260 ORPHA:77258 OMIM:190350 ORPHA:93314 OMIM:184252 ORPHA:500180 OMIM:615491 OMIM:300676 ORPHA:505248 OMIM:617303 ORPHA:319199 OMIM:614898 OMIM:276820 OMIM:615777 OMIM:605822 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537
 

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