Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
expand
Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
..Starting node
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Abnormal pupil morphology (HP:0000615)help
Term ID: 615
Name: Abnormal pupil morphology
Synonym: Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality
Definition: An abnormality of the pupil.
Comments:
Reference: HP:0000615
Genes and Diseases:
 
       Child Nodes:
........expandLeukocoria (HP:0000555) help
........expandAnisocoria (HP:0009916) help
........expandPersistent pupillary membrane (HP:0009917) help
........expandEctopia pupillae (HP:0009918) help
........expandPolycoria (HP:0011500) help
........expandAbnormal pupil shape (HP:0025309) help
................... HP:0025310 Oval pupil
........expandMicrocoria (HP:0025492) help

 Sister Nodes: 
..expandAbnormal iris pigmentation (HP:0008034) help
..expandAbnormal iris vasculature (HP:0007905) help
..expandAplasia/Hypoplasia of the iris (HP:0008053) help
..expandIridodonesis (HP:0100693) help
..expandIris atrophy (HP:0001089) help
..expandIris coloboma (HP:0000612) help
..expandIris cyst (HP:0011523) help
..expandIris flocculi (HP:0500007) help
..expandIris melanoma (HP:0011524) help
..expandIris nevus (HP:0011525) help
..expandIritis (HP:0001101) help
..expandLisch nodules (HP:0009737) help
..expandUveal ectropion (HP:0025358) 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:0000615HP:0000615Abnormal pupil morphology0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000615HP:0000615Abnormal pupil morphology0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillae84
HP:0000615HP:0000615Abnormal pupil morphology0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentis84
HP:0000615HP:0000615Abnormal pupil morphology0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0000615HP:0000615Abnormal pupil morphology0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000615HP:0000615Abnormal pupil morphology0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000615HP:0000615Abnormal pupil morphology0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000615HP:0000615Abnormal pupil morphology0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000615HP:0000615Abnormal pupil morphology0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000615HP:0000615Abnormal pupil morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000615HP:0000615Abnormal pupil morphology0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000615HP:0000615Abnormal pupil morphology0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000615HP:0000615Abnormal pupil morphology0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0000615HP:0000615Abnormal pupil morphology0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000615HP:0000615Abnormal pupil morphology0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000615HP:0000615Abnormal pupil morphology0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000615HP:0000615Abnormal pupil morphology0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0000615HP:0000615Abnormal pupil morphology0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentis1361
HP:0000615HP:0000615Abnormal pupil morphology0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000615HP:0000615Abnormal pupil morphology0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0000615HP:0000615Abnormal pupil morphology0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0000615HP:0000615Abnormal pupil morphology0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000615HP:0000615Abnormal pupil morphology0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0000615HP:0000615Abnormal pupil morphology0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0000615HP:0000615Abnormal pupil morphology0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000615HP:0000615Abnormal pupil morphology0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000615HP:0000615Abnormal pupil morphology0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent64
HP:0000615HP:0000615Abnormal pupil morphology0GRHL2 CL E G H799772799OMIM:618031Corneal dystrophy, posterior polymorphous, 433
HP:0000615HP:0000615Abnormal pupil morphology0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0000615HP:0000615Abnormal pupil morphology0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0000615HP:0000615Abnormal pupil morphology0KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040283 - Occasional2
HP:0000615HP:0000615Abnormal pupil morphology0KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040283 - Occasional1
HP:0000615HP:0000615Abnormal pupil morphology0KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040283 - Occasional5
HP:0000615HP:0000615Abnormal pupil morphology0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000615HP:0000615Abnormal pupil morphology0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000615HP:0000615Abnormal pupil morphology0LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040283 - Occasional12
HP:0000615HP:0000615Abnormal pupil morphology0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0000615HP:0000615Abnormal pupil morphology0LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040283 - Occasional8
HP:0000615HP:0000615Abnormal pupil morphology0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0000615HP:0000615Abnormal pupil morphology0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000615HP:0000615Abnormal pupil morphology0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000615HP:0000615Abnormal pupil morphology0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000615HP:0000615Abnormal pupil morphology0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000615HP:0000615Abnormal pupil morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0000615HP:0000615Abnormal pupil morphology0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000615HP:0000615Abnormal pupil morphology0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophy4
HP:0000615HP:0000615Abnormal pupil morphology0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000615HP:0000615Abnormal pupil morphology0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0000615HP:0000615Abnormal pupil morphology0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0000615HP:0000615Abnormal pupil morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0000615HP:0000615Abnormal pupil morphology0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000615HP:0000615Abnormal pupil morphology0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0000615HP:0000615Abnormal pupil morphology0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000615HP:0000615Abnormal pupil morphology0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0000615HP:0000615Abnormal pupil morphology0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA365
HP:0000615HP:0000615Abnormal pupil morphology0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 108
HP:0000615HP:0000615Abnormal pupil morphology0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000615HP:0000615Abnormal pupil morphology0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000615HP:0000615Abnormal pupil morphology0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000615HP:0000615Abnormal pupil morphology0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000615HP:0000615Abnormal pupil morphology0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1HP:0040283 - Occasional31
HP:0000615HP:0000615Abnormal pupil morphology0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000615HP:0000615Abnormal pupil morphology0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0000615HP:0000615Abnormal pupil morphology0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000615HP:0000615Abnormal pupil morphology0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0000615HP:0000615Abnormal pupil morphology0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophy47
HP:0000615HP:0000615Abnormal pupil morphology0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000615HP:0000615Abnormal pupil morphology0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophy8
HP:0000615HP:0000615Abnormal pupil morphology0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000615HP:0000615Abnormal pupil morphology0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000615HP:0025309Abnormal pupil shape1 CL E G H
HP:0000615HP:0009916Anisocoria1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000615HP:0009917Persistent pupillary membrane1ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillaeHP:0040283 - Occasional84
HP:0000615HP:0009918Ectopia pupillae1ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional84
HP:0000615HP:0000555Leukocoria1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent1
HP:0000615HP:0009917Persistent pupillary membrane1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000615HP:0000555Leukocoria1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000615HP:0009917Persistent pupillary membrane1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000615HP:0000555Leukocoria1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000615HP:0009917Persistent pupillary membrane1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000615HP:0009918Ectopia pupillae1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000615HP:0011500Polycoria1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000615HP:0009918Ectopia pupillae1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0000615HP:0009917Persistent pupillary membrane1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 8HP:0040283 - Occasional5
HP:0000615HP:0009918Ectopia pupillae1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0000615HP:0009918Ectopia pupillae1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0000615HP:0009918Ectopia pupillae1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000615HP:0009916Anisocoria1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000615HP:0009918Ectopia pupillae1FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional1361
HP:0000615HP:0009918Ectopia pupillae1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0000615HP:0009918Ectopia pupillae1FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0000615HP:0009918Ectopia pupillae1FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000615HP:0009917Persistent pupillary membrane1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000615HP:0000555Leukocoria1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000615HP:0025492Microcoria1GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0000615HP:0009917Persistent pupillary membrane1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000615HP:0009916Anisocoria1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0000615HP:0000555Leukocoria1GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent16
HP:0000615HP:0009918Ectopia pupillae1GRHL2 CL E G H799772799OMIM:618031Corneal dystrophy, posterior polymorphous, 4HP:0040284 - Very rare33
HP:0000615HP:0009918Ectopia pupillae1GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0000615HP:0009917Persistent pupillary membrane1HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0000615HP:0025492Microcoria1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0000615HP:0009918Ectopia pupillae1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0000615HP:0009916Anisocoria1LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0000615HP:0009918Ectopia pupillae1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000615HP:0000555Leukocoria1NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000615HP:0000555Leukocoria1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000615HP:0009917Persistent pupillary membrane1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000615HP:0009918Ectopia pupillae1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0000615HP:0009918Ectopia pupillae1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 1HP:0040283 - Occasional4
HP:0000615HP:0009918Ectopia pupillae1OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0000615HP:0009918Ectopia pupillae1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000615HP:0009918Ectopia pupillae1PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040283 - Occasional11
HP:0000615HP:0011500Polycoria1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000615HP:0009918Ectopia pupillae1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000615HP:0009916Anisocoria1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0000615HP:0009917Persistent pupillary membrane1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000615HP:0000555Leukocoria1RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0000615HP:0025492Microcoria1RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10HP:0040283 - Occasional8
HP:0000615HP:0009918Ectopia pupillae1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000615HP:0009916Anisocoria1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0000615HP:0009916Anisocoria1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000615HP:0009918Ectopia pupillae1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000615HP:0000555Leukocoria1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0000615HP:0009916Anisocoria1TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000615HP:0025492Microcoria1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0000615HP:0009918Ectopia pupillae1VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0000615HP:0009918Ectopia pupillae1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000615HP:0009918Ectopia pupillae1ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8
HP:0000615HP:0009918Ectopia pupillae1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000615HP:0009918Ectopia pupillae1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000615HP:0025310Oval pupil2 CL E G H


Genes (64) :AAAS ADAMTSL4 AP3D1 ARL6IP6 ATOH7 CHN1 COL18A1 COL3A1 COL4A1 COL8A2 CPAMD8 CPLX1 CTBP1 DDX6 ELP1 FBN1 FGFRL1 FOXC1 FZD4 GFAP GJA1 GMPPA GNA11 GPR143 GRHL2 HRAS KRT25 KRT71 KRT74 LAMB2 LETM1 LIPH LOXL1 LPAR6 MAB21L2 MAFB MPZ NDP NSD2 OCRL OVOL2 PAX6 PCYT1A PHOX2B PIK3R1 PITX2 PMP22 POMT2 PTEN RB1 RBP4 RHOA SALL4 SH3TC2 SIN3A STIM1 TBX2 TINF2 TMEM67 TONSL VSX1 WT1 ZEB1 ZEB2

Diseases (52) :OMIM:231550 OMIM:225200 ORPHA:1885 ORPHA:54 ORPHA:1556 ORPHA:91495 OMIM:221900 ORPHA:233 OMIM:267750 ORPHA:286 OMIM:175780 ORPHA:98973 OMIM:617319 OMIM:194190 OMIM:618653 ORPHA:1764 OMIM:601631 OMIM:602482 OMIM:203450 OMIM:257850 OMIM:615510 OMIM:618031 ORPHA:79414 ORPHA:170 OMIM:609049 OMIM:177650 OMIM:615877 ORPHA:101082 ORPHA:649 OMIM:310600 ORPHA:534 OMIM:122000 OMIM:106210 ORPHA:85167 ORPHA:2151 ORPHA:3163 OMIM:180500 ORPHA:90658 OMIM:613150 ORPHA:2969 OMIM:180200 OMIM:616428 OMIM:618727 ORPHA:99949 OMIM:613406 OMIM:160565 OMIM:618223 OMIM:268130 OMIM:613550 ORPHA:93357 OMIM:235730 ORPHA:261552
 

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