Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
expand
Abnormality of dental morphology (HP:0006482)help
..Starting node
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Conical tooth (HP:0000698)help
Term ID: 698
Name: Conical tooth
Synonym: Cone shaped tooth; Conical teeth; Conoid tooth; Peg shaped teeth; Peg shaped tooth; Peg tooth; Peg-shaped teeth; Pointed tooth; Shark tooth
Definition: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Comments:
Reference: HP:0000698
Genes and Diseases:
 
       Child Nodes:
........expandConical incisor (HP:0011065) help
................... HP:0006339 Conical mandibular incisor
................... HP:0006342 Peg-shaped maxillary lateral incisors
................... HP:0011082 Conical primary incisor
................... HP:0011083 Conical maxillary incisor
........expandSmall, conical teeth (HP:0200141) help

 Sister Nodes: 
..expandAbnormal dental root morphology (HP:0006486) help
..expandAbnormal incisor morphology (HP:0011063) help
..expandAbnormal molar morphology (HP:0011070) help
..expandAbnormal premolar morphology (HP:0011080) help
..expandDouble tooth (HP:0011089) help
..expandMacrodontia (HP:0001572) help
..expandMicrodontia (HP:0000691) 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:0000698HP:0000698Conical tooth0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000698HP:0000698Conical tooth0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040282 - Frequent132
HP:0000698HP:0000698Conical tooth0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000698HP:0000698Conical tooth0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palate6
HP:0000698HP:0000698Conical tooth0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000698HP:0000698Conical tooth0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0000698HP:0000698Conical tooth0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0000698HP:0000698Conical tooth0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominantHP:0040283 - Occasional5
HP:0000698HP:0000698Conical tooth0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0000698HP:0000698Conical tooth0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0000698HP:0000698Conical tooth0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000698HP:0000698Conical tooth0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palate38
HP:0000698HP:0000698Conical tooth0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0000698HP:0000698Conical tooth0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent1003
HP:0000698HP:0000698Conical tooth0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000698HP:0000698Conical tooth0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palate1003
HP:0000698HP:0000698Conical tooth0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040282 - Frequent
HP:0000698HP:0000698Conical tooth0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2.
HP:0000698HP:0000698Conical tooth0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000698HP:0000698Conical tooth0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palate
HP:0000698HP:0000698Conical tooth0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palate1
HP:0000698HP:0000698Conical tooth0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0000698HP:0000698Conical tooth0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000698HP:0000698Conical tooth0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0000698HP:0000698Conical tooth0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0000698HP:0000698Conical tooth0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0000698HP:0000698Conical tooth0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000698HP:0000698Conical tooth0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0000698HP:0000698Conical tooth0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0000698HP:0000698Conical tooth0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0000698HP:0000698Conical tooth0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0000698HP:0000698Conical tooth0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0000698HP:0000698Conical tooth0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0000698HP:0000698Conical tooth0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0000698HP:0000698Conical tooth0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000698HP:0000698Conical tooth0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040281 - Very frequent18
HP:0000698HP:0000698Conical tooth0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0000698HP:0000698Conical tooth0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0000698HP:0000698Conical tooth0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000698HP:0000698Conical tooth0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000698HP:0000698Conical tooth0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0000698HP:0000698Conical tooth0IKBKG CL E G H85175961OMIM:30108152
HP:0000698HP:0000698Conical tooth0IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0000698HP:0000698Conical tooth0IKBKG CL E G H85175961OMIM:300636Immunodeficiency 3352
HP:0000698HP:0000698Conical tooth0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0000698HP:0000698Conical tooth0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palate99
HP:0000698HP:0000698Conical tooth0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0000698HP:0000698Conical tooth0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000698HP:0000698Conical tooth0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0000698HP:0000698Conical tooth0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palate12
HP:0000698HP:0000698Conical tooth0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0000698HP:0000698Conical tooth0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0000698HP:0000698Conical tooth0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palate4
HP:0000698HP:0000698Conical tooth0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0000698HP:0000698Conical tooth0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0000698HP:0000698Conical tooth0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0000698HP:0000698Conical tooth0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0000698HP:0000698Conical tooth0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palate337
HP:0000698HP:0000698Conical tooth0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000698HP:0000698Conical tooth0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0000698HP:0000698Conical tooth0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000698HP:0000698Conical tooth0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0000698HP:0000698Conical tooth0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000698HP:0000698Conical tooth0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000698HP:0000698Conical tooth0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000698HP:0000698Conical tooth0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000698HP:0000698Conical tooth0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000698HP:0000698Conical tooth0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0000698HP:0000698Conical tooth0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0000698HP:0000698Conical tooth0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000698HP:0000698Conical tooth0TP63 CL E G H862615979ORPHA:199306Cleft lip/palate140
HP:0000698HP:0000698Conical tooth0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000698HP:0000698Conical tooth0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.39
HP:0000698HP:0000698Conical tooth0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000698HP:0000698Conical tooth0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0000698HP:0000698Conical tooth0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0000698HP:0000698Conical tooth0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0000698HP:0011065Conical incisor1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palate6
HP:0000698HP:0200141Small, conical teeth1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000698HP:0200141Small, conical teeth1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0000698HP:0011065Conical incisor1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0000698HP:0011065Conical incisor1AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0000698HP:0011065Conical incisor1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000698HP:0011065Conical incisor1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palate38
HP:0000698HP:0011065Conical incisor1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000698HP:0011065Conical incisor1CDH1 CL E G H9991748ORPHA:199306Cleft lip/palate1003
HP:0000698HP:0011065Conical incisor1DLG1 CL E G H17392900ORPHA:199306Cleft lip/palate
HP:0000698HP:0011065Conical incisor1DLX4 CL E G H17482917ORPHA:199306Cleft lip/palate1
HP:0000698HP:0011065Conical incisor1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000698HP:0011065Conical incisor1EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0000698HP:0011065Conical incisor1EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0000698HP:0011065Conical incisor1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000698HP:0011065Conical incisor1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000698HP:0011065Conical incisor1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000698HP:0011065Conical incisor1FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0000698HP:0011065Conical incisor1FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0000698HP:0011065Conical incisor1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000698HP:0011065Conical incisor1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000698HP:0011065Conical incisor1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000698HP:0011065Conical incisor1IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0000698HP:0011065Conical incisor1IRF6 CL E G H36646121ORPHA:199306Cleft lip/palate99
HP:0000698HP:0011065Conical incisor1IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0000698HP:0011065Conical incisor1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000698HP:0011065Conical incisor1LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0000698HP:0011065Conical incisor1MSX1 CL E G H44877391ORPHA:199306Cleft lip/palate12
HP:0000698HP:0011065Conical incisor1MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0000698HP:0011065Conical incisor1NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palate4
HP:0000698HP:0011065Conical incisor1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0000698HP:0011065Conical incisor1PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0000698HP:0011065Conical incisor1PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palate337
HP:0000698HP:0011065Conical incisor1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000698HP:0011065Conical incisor1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000698HP:0011065Conical incisor1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000698HP:0011065Conical incisor1SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0000698HP:0011065Conical incisor1TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0000698HP:0011065Conical incisor1TP63 CL E G H862615979ORPHA:199306Cleft lip/palate140
HP:0000698HP:0200141Small, conical teeth1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000698HP:0011065Conical incisor1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000698HP:0011065Conical incisor1WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0000698HP:0011065Conical incisor1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0000698HP:0011065Conical incisor1WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0000698HP:0011083Conical maxillary incisor2 CL E G H
HP:0000698HP:0006339Conical mandibular incisor2 CL E G H
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040283 - Occasional6
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040283 - Occasional38
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1003
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040283 - Occasional
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040283 - Occasional99
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040283 - Occasional12
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040283 - Occasional4
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040283 - Occasional337
HP:0000698HP:0011082Conical primary incisor2ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040283 - Occasional140
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 4.71
HP:0000698HP:0006342Peg-shaped maxillary lateral incisors2WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4


Genes (52) :ALX4 ANAPC1 ARHGAP29 ARID1B ATP6V0A2 ATP6V1B2 ATR AXIN2 B3GLCT BMP4 CCBE1 CDH1 CTNND1 DHODH DLG1 DLX4 DYNC2LI1 EDA EDAR EDARADD EVC EVC2 FGF10 FGF3 FGFR1 FGFR2 FGFR3 GLI1 IKBKG IRF6 KAT6A LRP6 MSX1 NECTIN1 NECTIN4 NEK1 NFKBIA PAX9 PDGFRA PRKACA PRKACB RHOA RUSC2 SATB2 SMARCD2 ST14 SUMO1 TGFA TP63 TSPEAR WNT10A WNT10B

Diseases (46) :OMIM:613451 ORPHA:228390 OMIM:618625 ORPHA:199306 OMIM:135900 ORPHA:2834 ORPHA:79499 OMIM:124480 OMIM:614564 ORPHA:99798 OMIM:261540 OMIM:235510 ORPHA:1997 OMIM:119580 OMIM:617681 OMIM:263750 ORPHA:289 OMIM:305100 OMIM:224900 OMIM:614941 ORPHA:952 OMIM:193530 OMIM:149730 ORPHA:90024 OMIM:610706 OMIM:301081 OMIM:300291 OMIM:300636 OMIM:308300 OMIM:616268 ORPHA:2228 OMIM:613573 ORPHA:2751 OMIM:612132 OMIM:619142 OMIM:619143 OMIM:618727 OMIM:617773 OMIM:612313 OMIM:617475 OMIM:602400 OMIM:106260 OMIM:129400 OMIM:618180 OMIM:257980 OMIM:150400
 

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