Human Phenotype Ontology 
Grandparent Node:
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Abnormal eyelash morphology (HP:0000499)help
Parent Node:
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Sparse hair (HP:0008070)help
Parent Node:
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Sparse or absent eyelashes (HP:0200102)help
..Starting node
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Sparse eyelashes (HP:0000653)help
Term ID: 653
Name: Sparse eyelashes
Synonym: Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes
Definition: Decreased density/number of eyelashes.
Comments:
Reference: HP:0000653
Genes and Diseases:
 
       Child Nodes:
........expandSparse lower eyelashes (HP:0007776) help
........expandSparse upper eyelashes (HP:0040050) help

 Sister Nodes: 
..expandAbsent eyelashes (HP:0000561) 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:0000653HP:0000653Sparse eyelashes0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0000653HP:0000653Sparse eyelashes0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000653HP:0000653Sparse eyelashes0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000653HP:0000653Sparse eyelashes0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000653HP:0000653Sparse eyelashes0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000653HP:0000653Sparse eyelashes0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0000653HP:0000653Sparse eyelashes0APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0000653HP:0000653Sparse eyelashes0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0000653HP:0000653Sparse eyelashes0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0000653HP:0000653Sparse eyelashes0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0000653HP:0000653Sparse eyelashes0CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0000653HP:0000653Sparse eyelashes0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0000653HP:0000653Sparse eyelashes0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0000653HP:0000653Sparse eyelashes0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040283 - Occasional215
HP:0000653HP:0000653Sparse eyelashes0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0000653HP:0000653Sparse eyelashes0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000653HP:0000653Sparse eyelashes0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000653HP:0000653Sparse eyelashes0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000653HP:0000653Sparse eyelashes0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0000653HP:0000653Sparse eyelashes0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0000653HP:0000653Sparse eyelashes0DPH5 CL E G H5161124270OMIM:620070
HP:0000653HP:0000653Sparse eyelashes0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0000653HP:0000653Sparse eyelashes0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6.63
HP:0000653HP:0000653Sparse eyelashes0DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0000653HP:0000653Sparse eyelashes0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0000653HP:0000653Sparse eyelashes0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0000653HP:0000653Sparse eyelashes0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0000653HP:0000653Sparse eyelashes0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000653HP:0000653Sparse eyelashes0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0000653HP:0000653Sparse eyelashes0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0000653HP:0000653Sparse eyelashes0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0000653HP:0000653Sparse eyelashes0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000653HP:0000653Sparse eyelashes0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000653HP:0000653Sparse eyelashes0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000653HP:0000653Sparse eyelashes0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0000653HP:0000653Sparse eyelashes0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000653HP:0000653Sparse eyelashes0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000653HP:0000653Sparse eyelashes0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000653HP:0000653Sparse eyelashes0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000653HP:0000653Sparse eyelashes0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000653HP:0000653Sparse eyelashes0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000653HP:0000653Sparse eyelashes0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000653HP:0000653Sparse eyelashes0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000653HP:0000653Sparse eyelashes0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0000653HP:0000653Sparse eyelashes0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000653HP:0000653Sparse eyelashes0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000653HP:0000653Sparse eyelashes0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0000653HP:0000653Sparse eyelashes0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000653HP:0000653Sparse eyelashes0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000653HP:0000653Sparse eyelashes0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0000653HP:0000653Sparse eyelashes0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type.1
HP:0000653HP:0000653Sparse eyelashes0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0000653HP:0000653Sparse eyelashes0KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 131
HP:0000653HP:0000653Sparse eyelashes0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0000653HP:0000653Sparse eyelashes0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7.12
HP:0000653HP:0000653Sparse eyelashes0LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0000653HP:0000653Sparse eyelashes0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0000653HP:0000653Sparse eyelashes0LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0000653HP:0000653Sparse eyelashes0LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0000653HP:0000653Sparse eyelashes0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000653HP:0000653Sparse eyelashes0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000653HP:0000653Sparse eyelashes0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0000653HP:0000653Sparse eyelashes0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0000653HP:0000653Sparse eyelashes0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0000653HP:0000653Sparse eyelashes0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040283 - Occasional1952
HP:0000653HP:0000653Sparse eyelashes0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0000653HP:0000653Sparse eyelashes0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0000653HP:0000653Sparse eyelashes0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000653HP:0000653Sparse eyelashes0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000653HP:0000653Sparse eyelashes0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000653HP:0000653Sparse eyelashes0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000653HP:0000653Sparse eyelashes0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0000653HP:0000653Sparse eyelashes0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000653HP:0000653Sparse eyelashes0RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0000653HP:0000653Sparse eyelashes0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0000653HP:0000653Sparse eyelashes0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0000653HP:0000653Sparse eyelashes0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000653HP:0000653Sparse eyelashes0SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0000653HP:0000653Sparse eyelashes0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000653HP:0000653Sparse eyelashes0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0000653HP:0000653Sparse eyelashes0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0000653HP:0000653Sparse eyelashes0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0000653HP:0000653Sparse eyelashes0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000653HP:0000653Sparse eyelashes0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000653HP:0000653Sparse eyelashes0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000653HP:0000653Sparse eyelashes0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0000653HP:0000653Sparse eyelashes0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0000653HP:0000653Sparse eyelashes0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000653HP:0000653Sparse eyelashes0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0000653HP:0000653Sparse eyelashes0TYMS CL E G H729812441OMIM:6200401
HP:0000653HP:0000653Sparse eyelashes0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000653HP:0000653Sparse eyelashes0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000653HP:0000653Sparse eyelashes0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000653HP:0040050Sparse upper eyelashes1 CL E G H
HP:0000653HP:0007776Sparse lower eyelashes1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000653HP:0007776Sparse lower eyelashes1SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0000653HP:0007776Sparse lower eyelashes1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0000653HP:0007776Sparse lower eyelashes1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040282 - Frequent7


Genes (71) :ALX1 ALX4 ANTXR1 APCDD1 B4GALT7 BANF1 BLM CDH3 CLDN1 COL11A1 CST6 CWC27 DKC1 DLX4 DOLK DPH1 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD EDNRA EPS8L3 FIG4 GJA1 GJB2 GJB6 GTPBP2 HRURF IRX5 ITGA3 KANK2 KREMEN1 KRT25 KRT71 KRT74 LIPH LPAR6 LSS MAP2K2 MBTPS2 MPLKIP NECTIN1 NECTIN4 NF1 NHP2 NOP10 ODC1 POLR3A RECQL4 RMRP RNU4ATAC RPL21 SF3B4 SMARCA2 SNRPE SOX18 SPINK5 ST14 TCOF1 TP63 TRPS1 TSR2 TWIST2 TYMS VAC14 WDR35 ZMPSTE24

Diseases (82) :OMIM:613456 ORPHA:306542 OMIM:613451 ORPHA:2067 OMIM:230740 OMIM:605389 ORPHA:55654 ORPHA:75496 OMIM:614008 ORPHA:125 OMIM:225280 OMIM:607626 ORPHA:59303 ORPHA:560 OMIM:618535 OMIM:250410 OMIM:305000 OMIM:616788 OMIM:610768 OMIM:616901 OMIM:620070 OMIM:613102 OMIM:607903 OMIM:607655 OMIM:302960 ORPHA:35173 OMIM:305100 OMIM:129490 OMIM:224900 OMIM:614941 OMIM:616367 OMIM:612841 OMIM:216340 ORPHA:3472 ORPHA:1010 OMIM:257850 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:617988 OMIM:146550 OMIM:611174 OMIM:614748 OMIM:616099 OMIM:617392 OMIM:616760 OMIM:615896 OMIM:614929 OMIM:604379 OMIM:278150 OMIM:615280 OMIM:308800 OMIM:234050 OMIM:225060 OMIM:613573 ORPHA:139474 OMIM:224230 OMIM:619075 ORPHA:544488 OMIM:264090 OMIM:268400 OMIM:250250 OMIM:210710 OMIM:154400 ORPHA:245 OMIM:619293 OMIM:137940 ORPHA:634 OMIM:602400 OMIM:154500 OMIM:106260 OMIM:604292 OMIM:129400 ORPHA:77258 OMIM:300946 OMIM:209885 ORPHA:1807 OMIM:620040 OMIM:613610 OMIM:275210
 

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