Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the palpebral fissures (HP:0008050)help
Parent Node:
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Abnormal size of the palpebral fissures (HP:0200007)help
..Starting node
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Short palpebral fissure (HP:0012745)help
Term ID: 12745
Name: Short palpebral fissure
Synonym: Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures
Definition: Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Comments:
Reference: HP:0012745
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlepharophimosis (HP:0000581) help
..expandLong palpebral fissure (HP:0000637) help
..expandNarrow palpebral fissure (HP:0045025) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012745HP:0012745Short palpebral fissure0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0012745HP:0012745Short palpebral fissure0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0012745HP:0012745Short palpebral fissure0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0012745HP:0012745Short palpebral fissure0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0012745HP:0012745Short palpebral fissure0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0012745HP:0012745Short palpebral fissure0BPTF CL E G H2186617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES617755C4540327OMIM114803581601819
HP:0012745HP:0012745Short palpebral fissure0BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0012745HP:0012745Short palpebral fissure0BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0012745HP:0012745Short palpebral fissure0BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0012745HP:0012745Short palpebral fissure0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0012745HP:0012745Short palpebral fissure0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0012745HP:0012745Short palpebral fissure0CHN1 CL E G H1123233D ercole syndromeORPHA1111111943118423
HP:0012745HP:0012745Short palpebral fissure0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0012745HP:0012745Short palpebral fissure0COL25A1 CL E G H84570233D ercole syndromeORPHA144118603610004
HP:0012745HP:0012745Short palpebral fissure0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0012745HP:0012745Short palpebral fissure0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0012745HP:0012745Short palpebral fissure0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0012745HP:0012745Short palpebral fissure0ERCC4 CL E G H207284ORPHA1723483436133520
HP:0012745HP:0012745Short palpebral fissure0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0012745HP:0012745Short palpebral fissure0FANCA CL E G H217584ORPHA168917063582607139
HP:0012745HP:0012745Short palpebral fissure0FANCB CL E G H218784ORPHA1213523583300515
HP:0012745HP:0012745Short palpebral fissure0FANCC CL E G H217684ORPHA1658823584613899
HP:0012745HP:0012745Short palpebral fissure0FANCD2 CL E G H217784ORPHA1644293585613984
HP:0012745HP:0012745Short palpebral fissure0FANCE CL E G H217884ORPHA1172013586613976
HP:0012745HP:0012745Short palpebral fissure0FANCF CL E G H218884ORPHA1162023587613897
HP:0012745HP:0012745Short palpebral fissure0FANCG CL E G H218984ORPHA1923253588602956
HP:0012745HP:0012745Short palpebral fissure0FANCI CL E G H5521584ORPHA14552125568611360
HP:0012745HP:0012745Short palpebral fissure0FANCL CL E G H5512084ORPHA12417620748608111
HP:0012745HP:0012745Short palpebral fissure0FANCM CL E G H5769784ORPHA15369723168609644
HP:0012745HP:0012745Short palpebral fissure0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0012745HP:0012745Short palpebral fissure0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0012745HP:0012745Short palpebral fissure0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0012745HP:0012745Short palpebral fissure0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0012745HP:0012745Short palpebral fissure0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0012745HP:0012745Short palpebral fissure0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0012745HP:0012745Short palpebral fissure0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0012745HP:0012745Short palpebral fissure0KMT2A CL E G H4297319182ORPHA11273797132159555
HP:0012745HP:0012745Short palpebral fissure0KRAS CL E G H38453339ORPHA1452746407190070
HP:0012745HP:0012745Short palpebral fissure0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0012745HP:0012745Short palpebral fissure0LMNA CL E G H40001662ORPHA157411526636150330
HP:0012745HP:0012745Short palpebral fissure0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0012745HP:0012745Short palpebral fissure0MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0012745HP:0012745Short palpebral fissure0MAFB CL E G H9935233D ercole syndromeORPHA1251056408608968
HP:0012745HP:0012745Short palpebral fissure0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0012745HP:0012745Short palpebral fissure0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0012745HP:0012745Short palpebral fissure0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0012745HP:0012745Short palpebral fissure0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0012745HP:0012745Short palpebral fissure0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0012745HP:0012745Short palpebral fissure0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0012745HP:0012745Short palpebral fissure0PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0012745HP:0012745Short palpebral fissure0PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0012745HP:0012745Short palpebral fissure0PITX3 CL E G H530988632ORPHA115299006602669
HP:0012745HP:0012745Short palpebral fissure0POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA159317264616404
HP:0012745HP:0012745Short palpebral fissure0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0012745HP:0012745Short palpebral fissure0RAD51 CL E G H588884ORPHA116369817179617
HP:0012745HP:0012745Short palpebral fissure0RAD51C CL E G H588984ORPHA113111309820602774
HP:0012745HP:0012745Short palpebral fissure0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0012745HP:0012745Short palpebral fissure0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0012745HP:0012745Short palpebral fissure0RFWD3 CL E G H5515984ORPHA124925539614151
HP:0012745HP:0012745Short palpebral fissure0SALL4 CL E G H57167959ORPHA15714815924607343
HP:0012745HP:0012745Short palpebral fissure0SLX4 CL E G H8446484ORPHA17281823845613278
HP:0012745HP:0012745Short palpebral fissure0SMAD4 CL E G H40892588ORPHA114712576770600993
HP:0012745HP:0012745Short palpebral fissure0SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0012745HP:0012745Short palpebral fissure0SMC1A CL E G H8243319182ORPHA110048411111300040
HP:0012745HP:0012745Short palpebral fissure0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0012745HP:0012745Short palpebral fissure0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0012745HP:0012745Short palpebral fissure0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0012745HP:0012745Short palpebral fissure0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0012745HP:0012745Short palpebral fissure0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0012745HP:0012745Short palpebral fissure0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0012745HP:0012745Short palpebral fissure0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0012745HP:0012745Short palpebral fissure0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0012745HP:0012745Short palpebral fissure0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM138128128616183
HP:0012745HP:0012745Short palpebral fissure0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0012745HP:0012745Short palpebral fissure0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM11317630551611595
HP:0012745HP:0012745Short palpebral fissure0TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA11317630551611595
HP:0012745HP:0012745Short palpebral fissure0UBE2T CL E G H2908984ORPHA171825009610538
HP:0012745HP:0012745Short palpebral fissure0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0012745HP:0012745Short palpebral fissure0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0012745HP:0012745Short palpebral fissure0XRCC2 CL E G H751684ORPHA12335812829600375
HP:0012745HP:0012745Short palpebral fissure0ZMPSTE24 CL E G H102691662ORPHA13413612877606480
HP:0012745HP:0012745Short palpebral fissure0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0012745HP:0012745Short palpebral fissure0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012745HP:0012745Short palpebral fissure0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM0515530794607951
HP:0012745HP:0012745Short palpebral fissure0ERMARD CL E G H5578075857ORPHA0214521056615532
HP:0012745HP:0012745Short palpebral fissure0RBPJ CL E G H3516614814Adams-Oliver syndrome 3614814C3553748OMIM010735724147183
HP:0012745HP:0012745Short palpebral fissure0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM023520662608744
HP:0012745HP:0012745Short palpebral fissure0SLC2A10 CL E G H810313342ORPHA03533913444606145
HP:0012745HP:0012745Short palpebral fissure0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM07281823845613278


Genes (83) :ALX4 AUTS2 B3GLCT BCL11B BPTF BRCA1 BRCA2 BRIP1 CDK13 CEP57 CHD4 CHN1 COG7 COL25A1 DCHS1 DOK7 DONSON ERCC4 ERMARD EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FOXE3 GJA1 HNRNPH2 KAT6B KCNJ2 KMT2A KRAS LIFR LMNA MAD2L2 MAFB MAGEL2 MAPRE2 MOGS MUSK MYCN ORC1 PALB2 PIEZO2 PITX3 POLR1A PRMT7 RAD51 RAD51C RAPSN RBM10 RBPJ RFWD3 SALL4 SLC25A24 SLC2A10 SLX4 SMAD4 SMARCA2 SMC1A SMOC1 SNX14 SOX11 SOX9 STAC3 TBX1 TBX15 THOC6 TMEM107 TUBB TXNL4A UBE2T UBE3B USP9X XRCC2 ZMPSTE24 ZNF148

Diseases (59) :613451 615834 709 617237 618092 617755 84 617360 614114 617159 233 608779 601390 208150 251230 75857 617763 615546 88632 164200 257850 300986 3047 170390 319182 3339 601559 1662 275210 615547 616734 606056 164280 224690 2461 1200 617157 311900 614814 959 612289 3342 613951 2588 3051 206920 616354 615866 114290 255995 188400 260660 613680 617563 156610 608572 2707 300968 617260
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.