Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormality of globe size (HP:0100887)help
Parent Node:
expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
..Starting node
..expand
Anophthalmia (HP:0000528)help
Term ID: 528
Name: Anophthalmia
Synonym: Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence
Definition: Absence of the globe or eyeball.
Comments:
Reference: HP:0000528
Genes and Diseases:
 
       Child Nodes:
........expandTrue anophthalmia (HP:0011478) help

 Sister Nodes: 
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandMicrophthalmia (HP:0000568) 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:0000528HP:0000528Anophthalmia0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0000528HP:0000528Anophthalmia0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0000528HP:0000528Anophthalmia0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0000528HP:0000528Anophthalmia0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0000528HP:0000528Anophthalmia0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0000528HP:0000528Anophthalmia0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000528HP:0000528Anophthalmia0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000528HP:0000528Anophthalmia0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040281 - Very frequent38
HP:0000528HP:0000528Anophthalmia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000528HP:0000528Anophthalmia0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0000528HP:0000528Anophthalmia0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0000528HP:0000528Anophthalmia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000528HP:0000528Anophthalmia0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000528HP:0000528Anophthalmia0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0000528HP:0000528Anophthalmia0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0000528HP:0000528Anophthalmia0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000528HP:0000528Anophthalmia0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0000528HP:0000528Anophthalmia0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0000528HP:0000528Anophthalmia0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0000528HP:0000528Anophthalmia0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000528HP:0000528Anophthalmia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000528HP:0000528Anophthalmia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000528HP:0000528Anophthalmia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000528HP:0000528Anophthalmia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000528HP:0000528Anophthalmia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000528HP:0000528Anophthalmia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000528HP:0000528Anophthalmia0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0000528HP:0000528Anophthalmia0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0000528HP:0000528Anophthalmia0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0000528HP:0000528Anophthalmia0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0000528HP:0000528Anophthalmia0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000528HP:0000528Anophthalmia0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome.198
HP:0000528HP:0000528Anophthalmia0FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndromeHP:0040283 - Occasional198
HP:0000528HP:0000528Anophthalmia0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0000528HP:0000528Anophthalmia0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0000528HP:0000528Anophthalmia0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0000528HP:0000528Anophthalmia0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0000528HP:0000528Anophthalmia0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0000528HP:0000528Anophthalmia0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000528HP:0000528Anophthalmia0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0000528HP:0000528Anophthalmia0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0000528HP:0000528Anophthalmia0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000528HP:0000528Anophthalmia0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0000528HP:0000528Anophthalmia0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000528HP:0000528Anophthalmia0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0000528HP:0000528Anophthalmia0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0000528HP:0000528Anophthalmia0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0000528HP:0000528Anophthalmia0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0000528HP:0000528Anophthalmia0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0000528HP:0000528Anophthalmia0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0000528HP:0000528Anophthalmia0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0000528HP:0000528Anophthalmia0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0000528HP:0000528Anophthalmia0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000528HP:0000528Anophthalmia0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent9
HP:0000528HP:0000528Anophthalmia0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0000528HP:0000528Anophthalmia0RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 3.43
HP:0000528HP:0000528Anophthalmia0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0000528HP:0000528Anophthalmia0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0000528HP:0000528Anophthalmia0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0000528HP:0000528Anophthalmia0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000528HP:0000528Anophthalmia0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000528HP:0000528Anophthalmia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000528HP:0000528Anophthalmia0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000528HP:0000528Anophthalmia0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0000528HP:0000528Anophthalmia0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000528HP:0000528Anophthalmia0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000528HP:0000528Anophthalmia0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0000528HP:0000528Anophthalmia0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0000528HP:0000528Anophthalmia0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040281 - Very frequent33
HP:0000528HP:0000528Anophthalmia0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000528HP:0000528Anophthalmia0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent71
HP:0000528HP:0000528Anophthalmia0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0000528HP:0000528Anophthalmia0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0000528HP:0000528Anophthalmia0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0000528HP:0000528Anophthalmia0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0000528HP:0000528Anophthalmia0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0000528HP:0000528Anophthalmia0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000528HP:0000528Anophthalmia0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0000528HP:0000528Anophthalmia0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0000528HP:0000528Anophthalmia0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0000528HP:0000528Anophthalmia0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0000528HP:0000528Anophthalmia0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0000528HP:0000528Anophthalmia0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0000528HP:0011478True anophthalmia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0000528HP:0011478True anophthalmia1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040281 - Very frequent15


Genes (69) :ALDH1A3 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BMP4 CC2D2A CEP290 CHD7 COL4A1 COX7B CRPPA CSPP1 DAG1 DOCK7 ERCC1 ERCC4 ERCC6 ERCC8 FANCB FKRP FKTN FRAS1 FREM1 FREM2 GLI2 GRIP1 HCCS HYLS1 KIF11 KIF7 LARGE1 MAB21L2 MKS1 NAA10 NDUFB11 NUAK2 OTX2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN RARB RAX RBP4 RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SF3B2 SHH SIX6 SMCHD1 SMOC1 SOX2 STRA6 TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15

Diseases (41) :OMIM:615113 ORPHA:899 ORPHA:564 OMIM:309800 OMIM:300166 ORPHA:139471 OMIM:607932 OMIM:214800 ORPHA:138 ORPHA:2556 OMIM:615636 ORPHA:411986 ORPHA:90322 ORPHA:90321 ORPHA:3412 ORPHA:2052 OMIM:219000 OMIM:248450 ORPHA:2717 OMIM:610829 ORPHA:2189 ORPHA:2526 OMIM:615877 OMIM:619452 OMIM:610125 OMIM:305600 ORPHA:2470 OMIM:615524 OMIM:611038 OMIM:616428 OMIM:164210 OMIM:611638 OMIM:147250 OMIM:206900 ORPHA:2250 ORPHA:1106 OMIM:206920 ORPHA:77298 OMIM:601186 OMIM:613885 OMIM:113620
 

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