Human Phenotype Ontology 
Grandparent Node:
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Abnormal eyelid morphology (HP:0000492)help
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal eyelash morphology (HP:0000499)help
..Starting node
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Sparse or absent eyelashes (HP:0200102)help
Term ID: 200102
Name: Sparse or absent eyelashes
Synonym: Partial to total absence of eyelashes; Sparse or absent eyelashes; Sparse to absent eyelashes
Definition:
Comments:
Reference: HP:0200102
Genes and Diseases:
 
       Child Nodes:
........expandAbsent eyelashes (HP:0000561) help
................... HP:0007646 Absent lower eyelashes
................... HP:0007708 Absent inner eyelashes
................... HP:0040056 Absent upper eyelashes
........expandSparse eyelashes (HP:0000653) help
................... HP:0007776 Sparse lower eyelashes
................... HP:0040050 Sparse upper eyelashes

 Sister Nodes: 
..expandAbnormality of lower eyelashes (HP:0040052) help
..expandAbnormality of upper eyelashes (HP:0040051) help
..expandCurly eyelashes (HP:0007665) help
..expandEctopic cilia of eyelid (HP:0430006) help
..expandLong eyelashes (HP:0000527) help
..expandLoss of eyelashes (HP:0011457) help
..expandMultiple rows of eyelashes (HP:0008496) help
..expandProminent eyelashes (HP:0011231) help
..expandShort eyelashes (HP:0010764) help
..expandTrichiasis (HP:0001128) help
..expandWhite eyelashes (HP:0002227) 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:0200102HP:0200102Sparse or absent eyelashes0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0200102HP:0200102Sparse or absent eyelashes0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0200102HP:0200102Sparse or absent eyelashes0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0200102HP:0200102Sparse or absent eyelashes0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0200102HP:0200102Sparse or absent eyelashes0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0200102HP:0200102Sparse or absent eyelashes0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0200102HP:0200102Sparse or absent eyelashes0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0200102HP:0200102Sparse or absent eyelashes0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 11
HP:0200102HP:0200102Sparse or absent eyelashes0APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplex1
HP:0200102HP:0200102Sparse or absent eyelashes0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0200102HP:0200102Sparse or absent eyelashes0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0200102HP:0200102Sparse or absent eyelashes0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0200102HP:0200102Sparse or absent eyelashes0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0200102HP:0200102Sparse or absent eyelashes0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0200102HP:0200102Sparse or absent eyelashes0CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome87
HP:0200102HP:0200102Sparse or absent eyelashes0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:0200102HP:0200102Sparse or absent eyelashes0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0200102HP:0200102Sparse or absent eyelashes0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0200102HP:0200102Sparse or absent eyelashes0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0200102HP:0200102Sparse or absent eyelashes0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0200102HP:0200102Sparse or absent eyelashes0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0200102HP:0200102Sparse or absent eyelashes0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0200102HP:0200102Sparse or absent eyelashes0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0200102HP:0200102Sparse or absent eyelashes0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0200102HP:0200102Sparse or absent eyelashes0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0200102HP:0200102Sparse or absent eyelashes0DPH5 CL E G H5161124270OMIM:620070
HP:0200102HP:0200102Sparse or absent eyelashes0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0200102HP:0200102Sparse or absent eyelashes0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 663
HP:0200102HP:0200102Sparse or absent eyelashes0DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplex63
HP:0200102HP:0200102Sparse or absent eyelashes0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0200102HP:0200102Sparse or absent eyelashes0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0200102HP:0200102Sparse or absent eyelashes0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0200102HP:0200102Sparse or absent eyelashes0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0200102HP:0200102Sparse or absent eyelashes0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0200102HP:0200102Sparse or absent eyelashes0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0200102HP:0200102Sparse or absent eyelashes0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0200102HP:0200102Sparse or absent eyelashes0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0200102HP:0200102Sparse or absent eyelashes0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0200102HP:0200102Sparse or absent eyelashes0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0200102HP:0200102Sparse or absent eyelashes0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0200102HP:0200102Sparse or absent eyelashes0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0200102HP:0200102Sparse or absent eyelashes0EPS8L3 CL E G H7957421297ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent
HP:0200102HP:0200102Sparse or absent eyelashes0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0200102HP:0200102Sparse or absent eyelashes0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0200102HP:0200102Sparse or absent eyelashes0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0200102HP:0200102Sparse or absent eyelashes0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0200102HP:0200102Sparse or absent eyelashes0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0200102HP:0200102Sparse or absent eyelashes0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0200102HP:0200102Sparse or absent eyelashes0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0200102HP:0200102Sparse or absent eyelashes0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0200102HP:0200102Sparse or absent eyelashes0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0200102HP:0200102Sparse or absent eyelashes0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0200102HP:0200102Sparse or absent eyelashes0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0200102HP:0200102Sparse or absent eyelashes0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0200102HP:0200102Sparse or absent eyelashes0HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type3
HP:0200102HP:0200102Sparse or absent eyelashes0HR CL E G H558065172ORPHA:701Alopecia universalis106
HP:0200102HP:0200102Sparse or absent eyelashes0HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0200102HP:0200102Sparse or absent eyelashes0HR CL E G H558065172ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent106
HP:0200102HP:0200102Sparse or absent eyelashes0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1
HP:0200102HP:0200102Sparse or absent eyelashes0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0200102HP:0200102Sparse or absent eyelashes0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0200102HP:0200102Sparse or absent eyelashes0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0200102HP:0200102Sparse or absent eyelashes0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0200102HP:0200102Sparse or absent eyelashes0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0200102HP:0200102Sparse or absent eyelashes0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type1
HP:0200102HP:0200102Sparse or absent eyelashes0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0200102HP:0200102Sparse or absent eyelashes0KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 131
HP:0200102HP:0200102Sparse or absent eyelashes0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type5
HP:0200102HP:0200102Sparse or absent eyelashes0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type2
HP:0200102HP:0200102Sparse or absent eyelashes0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0200102HP:0200102Sparse or absent eyelashes0LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplex12
HP:0200102HP:0200102Sparse or absent eyelashes0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0200102HP:0200102Sparse or absent eyelashes0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0200102HP:0200102Sparse or absent eyelashes0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0200102HP:0200102Sparse or absent eyelashes0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 88
HP:0200102HP:0200102Sparse or absent eyelashes0LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplex8
HP:0200102HP:0200102Sparse or absent eyelashes0LRP1 CL E G H40356692OMIM:604093Keratosis pilaris atrophicans4
HP:0200102HP:0200102Sparse or absent eyelashes0LSS CL E G H40476708ORPHA:55654Hypotrichosis simplex2
HP:0200102HP:0200102Sparse or absent eyelashes0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0200102HP:0200102Sparse or absent eyelashes0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0200102HP:0200102Sparse or absent eyelashes0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0200102HP:0200102Sparse or absent eyelashes0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0200102HP:0200102Sparse or absent eyelashes0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0200102HP:0200102Sparse or absent eyelashes0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0200102HP:0200102Sparse or absent eyelashes0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0200102HP:0200102Sparse or absent eyelashes0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0200102HP:0200102Sparse or absent eyelashes0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0200102HP:0200102Sparse or absent eyelashes0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndrome1952
HP:0200102HP:0200102Sparse or absent eyelashes0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0200102HP:0200102Sparse or absent eyelashes0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0200102HP:0200102Sparse or absent eyelashes0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0200102HP:0200102Sparse or absent eyelashes0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0200102HP:0200102Sparse or absent eyelashes0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0200102HP:0200102Sparse or absent eyelashes0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0200102HP:0200102Sparse or absent eyelashes0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0200102HP:0200102Sparse or absent eyelashes0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0200102HP:0200102Sparse or absent eyelashes0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0200102HP:0200102Sparse or absent eyelashes0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0200102HP:0200102Sparse or absent eyelashes0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040282 - Frequent445
HP:0200102HP:0200102Sparse or absent eyelashes0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0200102HP:0200102Sparse or absent eyelashes0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0200102HP:0200102Sparse or absent eyelashes0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0200102HP:0200102Sparse or absent eyelashes0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0200102HP:0200102Sparse or absent eyelashes0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0200102HP:0200102Sparse or absent eyelashes0RPL21 CL E G H614410313OMIM:615885Hypotrichosis 12.1
HP:0200102HP:0200102Sparse or absent eyelashes0RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplex1
HP:0200102HP:0200102Sparse or absent eyelashes0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0200102HP:0200102Sparse or absent eyelashes0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0200102HP:0200102Sparse or absent eyelashes0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0200102HP:0200102Sparse or absent eyelashes0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0200102HP:0200102Sparse or absent eyelashes0SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplex2
HP:0200102HP:0200102Sparse or absent eyelashes0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0200102HP:0200102Sparse or absent eyelashes0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0200102HP:0200102Sparse or absent eyelashes0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0200102HP:0200102Sparse or absent eyelashes0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0200102HP:0200102Sparse or absent eyelashes0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0200102HP:0200102Sparse or absent eyelashes0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0200102HP:0200102Sparse or absent eyelashes0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0200102HP:0200102Sparse or absent eyelashes0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3171
HP:0200102HP:0200102Sparse or absent eyelashes0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0200102HP:0200102Sparse or absent eyelashes0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0200102HP:0200102Sparse or absent eyelashes0TYMS CL E G H729812441OMIM:6200401
HP:0200102HP:0200102Sparse or absent eyelashes0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0200102HP:0200102Sparse or absent eyelashes0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0200102HP:0200102Sparse or absent eyelashes0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0200102HP:0200102Sparse or absent eyelashes0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0200102HP:0000653Sparse eyelashes1ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0200102HP:0000653Sparse eyelashes1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0200102HP:0000653Sparse eyelashes1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0200102HP:0000561Absent eyelashes1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0200102HP:0000653Sparse eyelashes1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0200102HP:0000653Sparse eyelashes1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0200102HP:0000653Sparse eyelashes1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0200102HP:0000653Sparse eyelashes1APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0200102HP:0000653Sparse eyelashes1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0200102HP:0000653Sparse eyelashes1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0200102HP:0000653Sparse eyelashes1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0200102HP:0000561Absent eyelashes1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0200102HP:0000653Sparse eyelashes1CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0200102HP:0000653Sparse eyelashes1CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0200102HP:0000653Sparse eyelashes1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0200102HP:0000653Sparse eyelashes1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040283 - Occasional215
HP:0200102HP:0000653Sparse eyelashes1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0200102HP:0000561Absent eyelashes1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0200102HP:0000653Sparse eyelashes1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0200102HP:0000653Sparse eyelashes1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0200102HP:0000653Sparse eyelashes1DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0200102HP:0000653Sparse eyelashes1DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0200102HP:0000653Sparse eyelashes1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0200102HP:0000653Sparse eyelashes1DPH5 CL E G H5161124270OMIM:620070
HP:0200102HP:0000653Sparse eyelashes1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0200102HP:0000653Sparse eyelashes1DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6.63
HP:0200102HP:0000653Sparse eyelashes1DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0200102HP:0000561Absent eyelashes1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0200102HP:0000653Sparse eyelashes1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0200102HP:0000653Sparse eyelashes1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0200102HP:0000653Sparse eyelashes1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0200102HP:0000561Absent eyelashes1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0200102HP:0000653Sparse eyelashes1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0200102HP:0000653Sparse eyelashes1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0200102HP:0000653Sparse eyelashes1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0200102HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0200102HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0200102HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0200102HP:0000561Absent eyelashes1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0200102HP:0000653Sparse eyelashes1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0200102HP:0000653Sparse eyelashes1EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0200102HP:0000653Sparse eyelashes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0200102HP:0000653Sparse eyelashes1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0200102HP:0000561Absent eyelashes1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0200102HP:0000653Sparse eyelashes1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0200102HP:0000653Sparse eyelashes1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0200102HP:0000653Sparse eyelashes1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0200102HP:0000561Absent eyelashes1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0200102HP:0000653Sparse eyelashes1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0200102HP:0000653Sparse eyelashes1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0200102HP:0000653Sparse eyelashes1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0200102HP:0000653Sparse eyelashes1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0200102HP:0000653Sparse eyelashes1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0200102HP:0000653Sparse eyelashes1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0200102HP:0000561Absent eyelashes1HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type3
HP:0200102HP:0000561Absent eyelashes1HR CL E G H558065172ORPHA:701Alopecia universalisHP:0040281 - Very frequent106
HP:0200102HP:0000561Absent eyelashes1HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0200102HP:0000653Sparse eyelashes1HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0200102HP:0000653Sparse eyelashes1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0200102HP:0000653Sparse eyelashes1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0200102HP:0000561Absent eyelashes1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0200102HP:0000653Sparse eyelashes1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0200102HP:0000653Sparse eyelashes1KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type.1
HP:0200102HP:0000653Sparse eyelashes1KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0200102HP:0000653Sparse eyelashes1KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 131
HP:0200102HP:0000653Sparse eyelashes1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0200102HP:0000561Absent eyelashes1KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type.2
HP:0200102HP:0000653Sparse eyelashes1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7.12
HP:0200102HP:0000653Sparse eyelashes1LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0200102HP:0000561Absent eyelashes1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0200102HP:0000561Absent eyelashes1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional645
HP:0200102HP:0000653Sparse eyelashes1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0200102HP:0000653Sparse eyelashes1LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0200102HP:0000561Absent eyelashes1LRP1 CL E G H40356692OMIM:604093Keratosis pilaris atrophicans4
HP:0200102HP:0000653Sparse eyelashes1LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0200102HP:0000653Sparse eyelashes1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0200102HP:0000561Absent eyelashes1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0200102HP:0000653Sparse eyelashes1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0200102HP:0000653Sparse eyelashes1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0200102HP:0000561Absent eyelashes1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional
HP:0200102HP:0000653Sparse eyelashes1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0200102HP:0000653Sparse eyelashes1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0200102HP:0000653Sparse eyelashes1NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040283 - Occasional1952
HP:0200102HP:0000653Sparse eyelashes1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0200102HP:0000653Sparse eyelashes1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0200102HP:0000653Sparse eyelashes1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0200102HP:0000653Sparse eyelashes1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0200102HP:0000561Absent eyelashes1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0200102HP:0000561Absent eyelashes1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0200102HP:0000561Absent eyelashes1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0200102HP:0000561Absent eyelashes1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0200102HP:0000561Absent eyelashes1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0200102HP:0000561Absent eyelashes1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0200102HP:0000561Absent eyelashes1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0200102HP:0000653Sparse eyelashes1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0200102HP:0000653Sparse eyelashes1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0200102HP:0000561Absent eyelashes1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0200102HP:0000561Absent eyelashes1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1.69
HP:0200102HP:0000653Sparse eyelashes1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0200102HP:0000653Sparse eyelashes1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0200102HP:0000653Sparse eyelashes1RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0200102HP:0000653Sparse eyelashes1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0200102HP:0000561Absent eyelashes1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0200102HP:0000653Sparse eyelashes1SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0200102HP:0000653Sparse eyelashes1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0200102HP:0000653Sparse eyelashes1SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0200102HP:0000561Absent eyelashes1SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0200102HP:0000561Absent eyelashes1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0200102HP:0000561Absent eyelashes1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0200102HP:0000653Sparse eyelashes1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0200102HP:0000653Sparse eyelashes1SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0200102HP:0000653Sparse eyelashes1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0200102HP:0000653Sparse eyelashes1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0200102HP:0000561Absent eyelashes1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0200102HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0200102HP:0000561Absent eyelashes1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0200102HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0200102HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0200102HP:0000653Sparse eyelashes1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0200102HP:0000653Sparse eyelashes1TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0200102HP:0000561Absent eyelashes1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0200102HP:0000561Absent eyelashes1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0200102HP:0000653Sparse eyelashes1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0200102HP:0000561Absent eyelashes1TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0200102HP:0000653Sparse eyelashes1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0200102HP:0000653Sparse eyelashes1TYMS CL E G H729812441OMIM:6200401
HP:0200102HP:0000653Sparse eyelashes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0200102HP:0000653Sparse eyelashes1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0200102HP:0000561Absent eyelashes1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0200102HP:0000653Sparse eyelashes1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0200102HP:0040056Absent upper eyelashes2 CL E G H
HP:0200102HP:0040050Sparse upper eyelashes2 CL E G H
HP:0200102HP:0007708Absent inner eyelashes2 CL E G H
HP:0200102HP:0007776Sparse lower eyelashes2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0200102HP:0007646Absent lower eyelashes2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0200102HP:0007776Sparse lower eyelashes2SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0200102HP:0007776Sparse lower eyelashes2TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0200102HP:0007646Absent lower eyelashes2TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0200102HP:0007776Sparse lower eyelashes2TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040282 - Frequent7


Genes (89) :ALX1 ALX4 ANAPC1 ANTXR1 APCDD1 B4GALT7 BANF1 BLM BRAF CDH3 CLDN1 COL11A1 CST6 CWC27 DKC1 DLX4 DOLK DPH1 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD EDNRA EPS8L3 FIG4 FRAS1 GJA1 GJB2 GJB6 GTPBP2 HOXC13 HR HRURF IRX5 ITGA3 JUP KANK2 KRAS KREMEN1 KRT25 KRT71 KRT74 KRT85 LIPH LMNA LPAR6 LRP1 LSS MAP2K1 MAP2K2 MBTPS2 MPLKIP MTX2 NECTIN1 NECTIN4 NF1 NHP2 NOP10 ODC1 PHGDH PKP1 POLR1B POLR1C POLR1D POLR3A RECQL4 RIPK4 RMRP RNU4ATAC RPL21 SF3B4 SMARCA2 SNRPE SOX18 SPINK5 ST14 TCOF1 TP63 TRPS1 TSR2 TWIST2 TYMS VAC14 WDR35 ZMPSTE24

Diseases (113) :OMIM:613456 ORPHA:306542 OMIM:613451 ORPHA:221008 OMIM:618625 ORPHA:2067 OMIM:230740 OMIM:605389 ORPHA:55654 ORPHA:75496 OMIM:614008 ORPHA:125 ORPHA:1340 OMIM:115150 OMIM:225280 OMIM:607626 ORPHA:59303 ORPHA:560 OMIM:618535 ORPHA:166035 OMIM:250410 OMIM:305000 OMIM:616788 OMIM:610768 OMIM:616901 OMIM:620070 OMIM:613102 OMIM:607903 ORPHA:158687 OMIM:607655 OMIM:302960 ORPHA:35173 OMIM:305100 OMIM:129490 OMIM:224900 OMIM:614941 OMIM:616367 OMIM:612841 ORPHA:444 ORPHA:3472 OMIM:216340 OMIM:219000 ORPHA:1010 OMIM:257850 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:617988 OMIM:614931 ORPHA:701 OMIM:203655 OMIM:146550 OMIM:611174 OMIM:614748 OMIM:616099 OMIM:617392 OMIM:616760 OMIM:615896 OMIM:614929 OMIM:602032 OMIM:604379 ORPHA:363618 ORPHA:90153 ORPHA:1662 OMIM:278150 OMIM:604093 OMIM:615280 OMIM:308205 OMIM:308800 OMIM:234050 OMIM:225060 OMIM:613573 ORPHA:139474 OMIM:224230 OMIM:619075 ORPHA:544488 OMIM:256520 OMIM:604536 ORPHA:861 OMIM:264090 ORPHA:221016 OMIM:268400 ORPHA:1234 OMIM:263650 OMIM:250250 OMIM:210710 OMIM:615885 OMIM:154400 ORPHA:245 OMIM:619293 OMIM:615059 OMIM:607823 OMIM:137940 ORPHA:69735 ORPHA:634 OMIM:602400 OMIM:154500 OMIM:106260 OMIM:604292 OMIM:129400 ORPHA:77258 OMIM:300946 ORPHA:920 OMIM:200110 OMIM:209885 ORPHA:1231 OMIM:227260 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.