Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the skeletal system (HP:0010622)help
Term ID: 10622
Name: Neoplasm of the skeletal system
Synonym: Bone neoplasm; Neoplasia of the skeletal system; Skeletal tumor; Skeletal tumour
Definition: A tumor (abnormal growth of tissue) of the skeleton.
Comments:
Reference: HP:0010622
Genes and Diseases:
 
       Child Nodes:
........expandOsteosarcoma (HP:0002669) help
........expandChondrosarcoma (HP:0006765) help
........expandChordoma (HP:0010762) help
........expandOsteoblastoma (HP:0011846) help
........expandGiant cell tumor of bone (HP:0011847) help
........expandEnchondroma (HP:0030038) help
................... HP:0005701 Multiple enchondromatosis
........expandOsteochondroma (HP:0030431) help
........expandChondroblastoma (HP:0030432) help
........expandOsteoma (HP:0100246) help
................... HP:0030433 Osteoid osteoma
........expandExostoses (HP:0100777) help
................... HP:0000896 Rib exostoses
................... HP:0000918 Scapular exostoses
................... HP:0002762 Multiple exostoses
................... HP:0003276 Pelvic bone exostoses
................... HP:0003960 Exostoses of the forearm bones
................... HP:0004276 Exostoses of hand bones
................... HP:0004459 Exostosis of the external auditory canal

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) 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:0010622HP:0010622Neoplasm of the skeletal system0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0010622HP:0010622Neoplasm of the skeletal system0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans34
HP:0010622HP:0010622Neoplasm of the skeletal system0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0010622HP:0010622Neoplasm of the skeletal system0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0010622HP:0010622Neoplasm of the skeletal system0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0010622HP:0010622Neoplasm of the skeletal system0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0010622HP:0010622Neoplasm of the skeletal system0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0010622HP:0010622Neoplasm of the skeletal system0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndrome132
HP:0010622HP:0010622Neoplasm of the skeletal system0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0010622HP:0010622Neoplasm of the skeletal system0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0010622HP:0010622Neoplasm of the skeletal system0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0010622HP:0010622Neoplasm of the skeletal system0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0010622HP:0010622Neoplasm of the skeletal system0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0010622HP:0010622Neoplasm of the skeletal system0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0010622HP:0010622Neoplasm of the skeletal system0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0010622HP:0010622Neoplasm of the skeletal system0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0010622HP:0010622Neoplasm of the skeletal system0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0010622HP:0010622Neoplasm of the skeletal system0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0010622HP:0010622Neoplasm of the skeletal system0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0010622HP:0010622Neoplasm of the skeletal system0CHEK2 CL E G H1120016627OMIM:259500Osteosarcoma833
HP:0010622HP:0010622Neoplasm of the skeletal system0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0010622HP:0010622Neoplasm of the skeletal system0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia222
HP:0010622HP:0010622Neoplasm of the skeletal system0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0010622HP:0010622Neoplasm of the skeletal system0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia284
HP:0010622HP:0010622Neoplasm of the skeletal system0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type284
HP:0010622HP:0010622Neoplasm of the skeletal system0COL2A1 CL E G H12802200ORPHA:85198Dysspondyloenchondromatosis284
HP:0010622HP:0010622Neoplasm of the skeletal system0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT1 CL E G H21313512OMIM:215300Chondrosarcoma96
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndrome102
HP:0010622HP:0010622Neoplasm of the skeletal system0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndrome102
HP:0010622HP:0010622Neoplasm of the skeletal system0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0010622HP:0010622Neoplasm of the skeletal system0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0010622HP:0010622Neoplasm of the skeletal system0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome145
HP:0010622HP:0010622Neoplasm of the skeletal system0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0010622HP:0010622Neoplasm of the skeletal system0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0010622HP:0010622Neoplasm of the skeletal system0GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive101
HP:0010622HP:0010622Neoplasm of the skeletal system0HEATR3 CL E G H5502726087OMIM:620072
HP:0010622HP:0010622Neoplasm of the skeletal system0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0010622HP:0010622Neoplasm of the skeletal system0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0010622HP:0010622Neoplasm of the skeletal system0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0010622HP:0010622Neoplasm of the skeletal system0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0010622HP:0010622Neoplasm of the skeletal system0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0010622HP:0010622Neoplasm of the skeletal system0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0010622HP:0010622Neoplasm of the skeletal system0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0010622HP:0010622Neoplasm of the skeletal system0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0010622HP:0010622Neoplasm of the skeletal system0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0010622HP:0010622Neoplasm of the skeletal system0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0010622HP:0010622Neoplasm of the skeletal system0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0010622HP:0010622Neoplasm of the skeletal system0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0010622HP:0010622Neoplasm of the skeletal system0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma85
HP:0010622HP:0010622Neoplasm of the skeletal system0NR4A3 CL E G H80137982OMIM:612237Chondrosarcoma, extraskeletal myxoid
HP:0010622HP:0010622Neoplasm of the skeletal system0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010622HP:0010622Neoplasm of the skeletal system0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndrome2
HP:0010622HP:0010622Neoplasm of the skeletal system0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0010622HP:0010622Neoplasm of the skeletal system0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0010622HP:0010622Neoplasm of the skeletal system0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0010622HP:0010622Neoplasm of the skeletal system0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0010622HP:0010622Neoplasm of the skeletal system0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0010622HP:0010622Neoplasm of the skeletal system0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010622HP:0010622Neoplasm of the skeletal system0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0010622HP:0010622Neoplasm of the skeletal system0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0010622HP:0010622Neoplasm of the skeletal system0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0010622HP:0010622Neoplasm of the skeletal system0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0010622HP:0010622Neoplasm of the skeletal system0PTPN11 CL E G H57819644ORPHA:2499Metachondromatosis291
HP:0010622HP:0010622Neoplasm of the skeletal system0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0010622HP:0010622Neoplasm of the skeletal system0RB1 CL E G H59259884OMIM:259500Osteosarcoma365
HP:0010622HP:0010622Neoplasm of the skeletal system0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA365
HP:0010622HP:0010622Neoplasm of the skeletal system0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0010622HP:0010622Neoplasm of the skeletal system0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0010622HP:0010622Neoplasm of the skeletal system0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0010622HP:0010622Neoplasm of the skeletal system0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0010622HP:0010622Neoplasm of the skeletal system0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0010622HP:0010622Neoplasm of the skeletal system0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0010622HP:0010622Neoplasm of the skeletal system0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0010622HP:0010622Neoplasm of the skeletal system0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0010622HP:0010622Neoplasm of the skeletal system0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0010622HP:0010622Neoplasm of the skeletal system0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0010622HP:0010622Neoplasm of the skeletal system0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0010622HP:0010622Neoplasm of the skeletal system0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0010622HP:0010622Neoplasm of the skeletal system0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0010622HP:0010622Neoplasm of the skeletal system0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0010622HP:0010622Neoplasm of the skeletal system0SQSTM1 CL E G H887811280OMIM:167250Paget disease of bone 362
HP:0010622HP:0010622Neoplasm of the skeletal system0TAF15 CL E G H814811547OMIM:612237Chondrosarcoma, extraskeletal myxoid
HP:0010622HP:0010622Neoplasm of the skeletal system0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0010622HP:0010622Neoplasm of the skeletal system0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0010622HP:0010622Neoplasm of the skeletal system0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0010622HP:0010622Neoplasm of the skeletal system0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0010622HP:0010622Neoplasm of the skeletal system0TP53 CL E G H715711998OMIM:259500Osteosarcoma911
HP:0010622HP:0010622Neoplasm of the skeletal system0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus911
HP:0010622HP:0010622Neoplasm of the skeletal system0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0010622HP:0010622Neoplasm of the skeletal system0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0010622HP:0010622Neoplasm of the skeletal system0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0010622HP:0010622Neoplasm of the skeletal system0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0010622HP:0010622Neoplasm of the skeletal system0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0010622HP:0010622Neoplasm of the skeletal system0WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0010622HP:0030432Chondroblastoma1 CL E G H
HP:0010622HP:0011846Osteoblastoma1 CL E G H
HP:0010622HP:0100777Exostoses1ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.34
HP:0010622HP:0030038Enchondroma1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0010622HP:0002669Osteosarcoma1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0010622HP:0030038Enchondroma1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare116
HP:0010622HP:0100777Exostoses1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0010622HP:0100777Exostoses1ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0010622HP:0100777Exostoses1ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent132
HP:0010622HP:0002669Osteosarcoma1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0010622HP:0100246Osteoma1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0010622HP:0100246Osteoma1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0010622HP:0100246Osteoma1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040284 - Very rare3179
HP:0010622HP:0100246Osteoma1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040283 - Occasional3179
HP:0010622HP:0100777Exostoses1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0010622HP:0100777Exostoses1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0010622HP:0100777Exostoses1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040281 - Very frequent192
HP:0010622HP:0002669Osteosarcoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0010622HP:0002669Osteosarcoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0010622HP:0002669Osteosarcoma1CHEK2 CL E G H1120016627OMIM:259500Osteosarcoma.833
HP:0010622HP:0100777Exostoses1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0010622HP:0100777Exostoses1COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0010622HP:0100777Exostoses1COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional284
HP:0010622HP:0030431Osteochondroma1COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type284
HP:0010622HP:0100777Exostoses1COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0010622HP:0030038Enchondroma1COL2A1 CL E G H12802200ORPHA:85198Dysspondyloenchondromatosis284
HP:0010622HP:0006765Chondrosarcoma1EXT1 CL E G H21313512OMIM:215300Chondrosarcoma.96
HP:0010622HP:0100777Exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0010622HP:0006765Chondrosarcoma1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0010622HP:0030431Osteochondroma1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040280 - Obligate96
HP:0010622HP:0006765Chondrosarcoma1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0010622HP:0100777Exostoses1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0010622HP:0100777Exostoses1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0010622HP:0100777Exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0010622HP:0006765Chondrosarcoma1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0010622HP:0006765Chondrosarcoma1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0010622HP:0030431Osteochondroma1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040280 - Obligate102
HP:0010622HP:0100777Exostoses1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0010622HP:0100777Exostoses1EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent102
HP:0010622HP:0100777Exostoses1EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0010622HP:0030431Osteochondroma1FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0010622HP:0002669Osteosarcoma1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0010622HP:0030431Osteochondroma1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0010622HP:0100246Osteoma1GNAS CL E G H27784392OMIM:166350Osseous heteroplasia, progressive.101
HP:0010622HP:0002669Osteosarcoma1HEATR3 CL E G H5502726087OMIM:620072
HP:0010622HP:0006765Chondrosarcoma1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0010622HP:0030038Enchondroma1IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0010622HP:0100777Exostoses1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040282 - Frequent15
HP:0010622HP:0030038Enchondroma1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0010622HP:0030038Enchondroma1IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0010622HP:0006765Chondrosarcoma1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040283 - Occasional15
HP:0010622HP:0100777Exostoses1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040282 - Frequent29
HP:0010622HP:0030038Enchondroma1IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0010622HP:0006765Chondrosarcoma1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0010622HP:0030038Enchondroma1IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0010622HP:0006765Chondrosarcoma1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040283 - Occasional29
HP:0010622HP:0030038Enchondroma1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare28
HP:0010622HP:0010762Chordoma1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0010622HP:0100777Exostoses1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0010622HP:0002669Osteosarcoma1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0010622HP:0030038Enchondroma1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0010622HP:0100777Exostoses1MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0010622HP:0002669Osteosarcoma1MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.85
HP:0010622HP:0006765Chondrosarcoma1NR4A3 CL E G H80137982OMIM:612237Chondrosarcoma, extraskeletal myxoid.
HP:0010622HP:0030038Enchondroma1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010622HP:0100777Exostoses1PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent2
HP:0010622HP:0030038Enchondroma1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0010622HP:0030038Enchondroma1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0010622HP:0030038Enchondroma1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0010622HP:0011847Giant cell tumor of bone1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0010622HP:0030038Enchondroma1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010622HP:0100777Exostoses1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0010622HP:0100777Exostoses1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0010622HP:0030038Enchondroma1PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0010622HP:0006765Chondrosarcoma1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040283 - Occasional58
HP:0010622HP:0030038Enchondroma1PTPN11 CL E G H57819644ORPHA:2499Metachondromatosis291
HP:0010622HP:0100777Exostoses1PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0010622HP:0100777Exostoses1PTPN11 CL E G H57819644ORPHA:2499MetachondromatosisHP:0040281 - Very frequent291
HP:0010622HP:0030038Enchondroma1PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0010622HP:0100777Exostoses1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0010622HP:0002669Osteosarcoma1RB1 CL E G H59259884OMIM:259500Osteosarcoma.365
HP:0010622HP:0002669Osteosarcoma1RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0010622HP:0002669Osteosarcoma1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0010622HP:0002669Osteosarcoma1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0010622HP:0002669Osteosarcoma1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0010622HP:0030038Enchondroma1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare33
HP:0010622HP:0030038Enchondroma1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare34
HP:0010622HP:0030038Enchondroma1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare60
HP:0010622HP:0030038Enchondroma1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0010622HP:0002669Osteosarcoma1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0010622HP:0002669Osteosarcoma1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0010622HP:0002669Osteosarcoma1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0010622HP:0002669Osteosarcoma1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0010622HP:0002669Osteosarcoma1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0010622HP:0002669Osteosarcoma1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0010622HP:0002669Osteosarcoma1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0010622HP:0002669Osteosarcoma1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0010622HP:0002669Osteosarcoma1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0010622HP:0002669Osteosarcoma1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0010622HP:0002669Osteosarcoma1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0010622HP:0002669Osteosarcoma1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0010622HP:0002669Osteosarcoma1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0010622HP:0002669Osteosarcoma1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0010622HP:0002669Osteosarcoma1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0010622HP:0002669Osteosarcoma1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0010622HP:0002669Osteosarcoma1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0010622HP:0030038Enchondroma1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare55
HP:0010622HP:0100777Exostoses1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0010622HP:0100777Exostoses1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0010622HP:0030431Osteochondroma1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0010622HP:0002669Osteosarcoma1SQSTM1 CL E G H887811280OMIM:167250Paget disease of bone 3.62
HP:0010622HP:0006765Chondrosarcoma1TAF15 CL E G H814811547OMIM:612237Chondrosarcoma, extraskeletal myxoid.
HP:0010622HP:0030038Enchondroma1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0010622HP:0002669Osteosarcoma1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0010622HP:0002669Osteosarcoma1TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0010622HP:0002669Osteosarcoma1TP53 CL E G H715711998OMIM:259500Osteosarcoma.911
HP:0010622HP:0002669Osteosarcoma1TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus911
HP:0010622HP:0030038Enchondroma1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare56
HP:0010622HP:0100777Exostoses1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0010622HP:0010762Chordoma1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0010622HP:0010762Chordoma1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0010622HP:0002669Osteosarcoma1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0010622HP:0002669Osteosarcoma1WRN CL E G H748612791OMIM:277700Werner syndrome.310
HP:0010622HP:0030433Osteoid osteoma2 CL E G H
HP:0010622HP:0003960Exostoses of the forearm bones2 CL E G H
HP:0010622HP:0004276Exostoses of hand bones2 CL E G H
HP:0010622HP:0002762Multiple exostoses2ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0010622HP:0003276Pelvic bone exostoses2ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0010622HP:0004459Exostosis of the external auditory canal2CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0010622HP:0005701Multiple enchondromatosis2COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0010622HP:0003276Pelvic bone exostoses2EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0010622HP:0000918Scapular exostoses2EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0010622HP:0000896Rib exostoses2EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0010622HP:0002762Multiple exostoses2EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0010622HP:0000918Scapular exostoses2EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0010622HP:0000896Rib exostoses2EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0010622HP:0002762Multiple exostoses2EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0010622HP:0000896Rib exostoses2EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0010622HP:0003276Pelvic bone exostoses2EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0010622HP:0002762Multiple exostoses2EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0010622HP:0000918Scapular exostoses2EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0010622HP:0000896Rib exostoses2EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0010622HP:0000918Scapular exostoses2EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0010622HP:0005701Multiple enchondromatosis2IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent15
HP:0010622HP:0005701Multiple enchondromatosis2IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0010622HP:0005701Multiple enchondromatosis2IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0010622HP:0005701Multiple enchondromatosis2IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent29
HP:0010622HP:0005701Multiple enchondromatosis2IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0010622HP:0004459Exostosis of the external auditory canal2IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0010622HP:0002762Multiple exostoses2MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0010622HP:0005701Multiple enchondromatosis2POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0010622HP:0005701Multiple enchondromatosis2POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0010622HP:0005701Multiple enchondromatosis2POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0010622HP:0005701Multiple enchondromatosis2PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0010622HP:0005701Multiple enchondromatosis2PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0010622HP:0002762Multiple exostoses2PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0010622HP:0005701Multiple enchondromatosis2PTPN11 CL E G H57819644ORPHA:2499MetachondromatosisHP:0040281 - Very frequent291
HP:0010622HP:0002762Multiple exostoses2SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0010622HP:0005701Multiple enchondromatosis2TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0010622HP:0002762Multiple exostoses2TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0010622HP:0003986Exostoses of the radius3 CL E G H
HP:0010622HP:0003985Exostoses of the ulna3 CL E G H
HP:0010622HP:0003872Humeral exostoses3 CL E G H
HP:0010622HP:0005039Multiple long-bone exostoses3EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0010622HP:0005655Multiple digital exostoses3PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0010622HP:0005039Multiple long-bone exostoses3TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0010622HP:0004017Exostoses of the radial metaphysis4 CL E G H


Genes (98) :AAGAB ACAN ACP5 ADA2 ADAR AKT1 ALX4 ANAPC1 APC ATP7A BMPR1A CDKN2A CHEK2 CHRNG COL11A2 COL14A1 COL2A1 EPCAM EXT1 EXT2 FAN1 FGFR1 FGFR3 GATA1 GLI3 GNAS HEATR3 IDH1 IDH2 IFIH1 IFNG IPO8 KRAS LMNA LSM11 MDM2 MLH1 MLH3 MSH2 MSH6 MSX2 MTAP NR4A3 PDE11A PHF21A PIK3CA PMS1 PMS2 POLR1B POLR1C POLR1D PORCN PRKAR1A PTEN PTH1R PTPN11 RAD21 RB1 RECQL4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMHD1 SEMA4A SHOX SOX6 SQSTM1 TAF15 TCOF1 TGFBR2 TP53 TREX1 TRPS1 TSC1 TSC2 TSR2 WRN

Diseases (63) :ORPHA:79501 OMIM:165800 ORPHA:1855 ORPHA:124 ORPHA:51 ORPHA:744 ORPHA:60015 ORPHA:52022 ORPHA:221008 OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:565 OMIM:304150 ORPHA:198 ORPHA:440437 ORPHA:524 OMIM:259500 OMIM:265000 ORPHA:166100 OMIM:609162 ORPHA:85198 ORPHA:144 OMIM:215300 OMIM:133700 ORPHA:321 ORPHA:502 OMIM:133701 ORPHA:466926 ORPHA:2396 OMIM:610474 ORPHA:672 OMIM:166350 OMIM:620072 ORPHA:163634 ORPHA:99646 ORPHA:296 OMIM:613254 OMIM:619472 ORPHA:79474 OMIM:112250 OMIM:612237 ORPHA:1359 ORPHA:861 ORPHA:2092 ORPHA:2969 OMIM:156250 ORPHA:2499 OMIM:614701 OMIM:180200 ORPHA:1225 ORPHA:221016 OMIM:268400 OMIM:105650 ORPHA:240 OMIM:127300 OMIM:618971 OMIM:167250 OMIM:151623 OMIM:260500 OMIM:191100 OMIM:277700
 

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