Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Growth delay (HP:0001510)help
Parent Node:
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Puberty and gonadal disorders (HP:0008373)help
..Starting node
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Delayed puberty (HP:0000823)help
Term ID: 823
Name: Delayed puberty
Synonym: Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay
Definition: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Comments:
Reference: HP:0000823
Genes and Diseases:
 
       Child Nodes:
........expandDelayed menarche (HP:0012569) help
........expandDelayed adrenarche (HP:0025453) help
........expandDelayed thelarche (HP:0025515) help

 Sister Nodes: 
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal serum testosterone level (HP:0030087) help
..expandAbsence of pubertal development (HP:0008197) help
..expandAbsence of secondary sex characteristics (HP:0008187) help
..expandAdrenogenital syndrome (HP:0000840) help
..expandAndrogen insufficiency (HP:0008226) help
..expandEarly onset of sexual maturation (HP:0100000) help
..expandHypogonadism (HP:0000135) help
..expandLeydig cell insensitivity to gonadotropin (HP:0002929) help
..expandMenstrual irregularities (HP:0000858) help
..expandPrimary gonadal insufficiency (HP:0008193) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000823HP:0000823Delayed puberty0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0000823HP:0000823Delayed puberty0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA11913466211300836
HP:0000823HP:0000823Delayed puberty0ANOS1 CL E G H3730432ArbovirosisORPHA11913466211300836
HP:0000823HP:0000823Delayed puberty0ATM CL E G H472100ORPHA113248934795607585
HP:0000823HP:0000823Delayed puberty0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113248934795607585
HP:0000823HP:0000823Delayed puberty0BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA1281841068300247
HP:0000823HP:0000823Delayed puberty0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM1281841068300247
HP:0000823HP:0000823Delayed puberty0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA116626821616031
HP:0000823HP:0000823Delayed puberty0CDON CL E G H5093795496ORPHA11339117104608707
HP:0000823HP:0000823Delayed puberty0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty0CHD7 CL E G H55636432ArbovirosisORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000823HP:0000823Delayed puberty0COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0000823HP:0000823Delayed puberty0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0000823HP:0000823Delayed puberty0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000823HP:0000823Delayed puberty0CYB5A CL E G H152890796ORPHA171422570613218
HP:0000823HP:0000823Delayed puberty0CYP11A1 CL E G H1583168558ORPHA130922590118485
HP:0000823HP:0000823Delayed puberty0CYP11A1 CL E G H1583289548ORPHA130922590118485
HP:0000823HP:0000823Delayed puberty0CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0000823HP:0000823Delayed puberty0CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0000823HP:0000823Delayed puberty0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA1411232701120470
HP:0000823HP:0000823Delayed puberty0DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000823HP:0000823Delayed puberty0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA15243072602748
HP:0000823HP:0000823Delayed puberty0DUSP6 CL E G H1848432ArbovirosisORPHA15243072602748
HP:0000823HP:0000823Delayed puberty0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000823HP:0000823Delayed puberty0ENTPD1 CL E G H953401810ORPHA16533363601752
HP:0000823HP:0000823Delayed puberty0ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16533363601752
HP:0000823HP:0000823Delayed puberty0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA134122788613301
HP:0000823HP:0000823Delayed puberty0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000823HP:0000823Delayed puberty0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA15823673603725
HP:0000823HP:0000823Delayed puberty0FGF17 CL E G H8822432ArbovirosisORPHA15823673603725
HP:0000823HP:0000823Delayed puberty0FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM15823673603725
HP:0000823HP:0000823Delayed puberty0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA141543686600483
HP:0000823HP:0000823Delayed puberty0FGF8 CL E G H2253432ArbovirosisORPHA141543686600483
HP:0000823HP:0000823Delayed puberty0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA12653883688136350
HP:0000823HP:0000823Delayed puberty0FGFR1 CL E G H2260432ArbovirosisORPHA12653883688136350
HP:0000823HP:0000823Delayed puberty0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA17413762604808
HP:0000823HP:0000823Delayed puberty0FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA1411183969136435
HP:0000823HP:0000823Delayed puberty0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0000823HP:0000823Delayed puberty0GATA1 CL E G H2623124Allain-Babin-Demarquez syndromeORPHA1152354170305371
HP:0000823HP:0000823Delayed puberty0GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000823HP:0000823Delayed puberty0GBA CL E G H262977259ORPHA14942064177606463
HP:0000823HP:0000823Delayed puberty0GBA CL E G H262977261ORPHA14942064177606463
HP:0000823HP:0000823Delayed puberty0GHR CL E G H2690633ORPHA11211814263600946
HP:0000823HP:0000823Delayed puberty0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0000823HP:0000823Delayed puberty0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000823HP:0000823Delayed puberty0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0000823HP:0000823Delayed puberty0GNRH1 CL E G H2796432ArbovirosisORPHA112974419152760
HP:0000823HP:0000823Delayed puberty0GNRHR CL E G H2798432ArbovirosisORPHA1591584421138850
HP:0000823HP:0000823Delayed puberty0GPR161 CL E G H2343295496ORPHA113223694612250
HP:0000823HP:0000823Delayed puberty0HBB CL E G H3043231214ORPHA187110094827141900
HP:0000823HP:0000823Delayed puberty0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000823HP:0000823Delayed puberty0HESX1 CL E G H882095496ORPHA127464877601802
HP:0000823HP:0000823Delayed puberty0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA127464877601802
HP:0000823HP:0000823Delayed puberty0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA18335201604846
HP:0000823HP:0000823Delayed puberty0HS6ST1 CL E G H9394432ArbovirosisORPHA18335201604846
HP:0000823HP:0000823Delayed puberty0HSD3B2 CL E G H328490791ORPHA163925218613890
HP:0000823HP:0000823Delayed puberty0IGFALS CL E G H3483140941ORPHA1341485468601489
HP:0000823HP:0000823Delayed puberty0IGFALS CL E G H3483615961Acid-labile subunit deficiency615961CN069120OMIM1341485468601489
HP:0000823HP:0000823Delayed puberty0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA1144917616606807
HP:0000823HP:0000823Delayed puberty0INSR CL E G H36432297Fetal brain disruption sequenceORPHA11964076091147670
HP:0000823HP:0000823Delayed puberty0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000823HP:0000823Delayed puberty0KISS1 CL E G H3814432ArbovirosisORPHA115256341603286
HP:0000823HP:0000823Delayed puberty0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA139784510604161
HP:0000823HP:0000823Delayed puberty0KISS1R CL E G H84634432ArbovirosisORPHA139784510604161
HP:0000823HP:0000823Delayed puberty0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000823HP:0000823Delayed puberty0LEPR CL E G H3953614963Leptin receptor deficiency614963C3554225OMIM1441446554601007
HP:0000823HP:0000823Delayed puberty0LHX4 CL E G H8988495496ORPHA12311621734602146
HP:0000823HP:0000823Delayed puberty0LMNA CL E G H400079474ORPHA157411526636150330
HP:0000823HP:0000823Delayed puberty0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000823HP:0000823Delayed puberty0MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000823HP:0000823Delayed puberty0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000823HP:0000823Delayed puberty0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000823HP:0000823Delayed puberty0MMP1 CL E G H431279408ORPHA18337155120353
HP:0000823HP:0000823Delayed puberty0MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA198414508605810
HP:0000823HP:0000823Delayed puberty0MRPS22 CL E G H56945618117OVARIAN DYSGENESIS 7618117CN253833OMIM198414508605810
HP:0000823HP:0000823Delayed puberty0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144810545607545
HP:0000823HP:0000823Delayed puberty0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000823HP:0000823Delayed puberty0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000823HP:0000823Delayed puberty0NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000823HP:0000823Delayed puberty0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12552707960300473
HP:0000823HP:0000823Delayed puberty0NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000823HP:0000823Delayed puberty0NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA11891057983184757
HP:0000823HP:0000823Delayed puberty0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA1910429843608137
HP:0000823HP:0000823Delayed puberty0NSMF CL E G H26012432ArbovirosisORPHA1910429843608137
HP:0000823HP:0000823Delayed puberty0NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA1124029914607617
HP:0000823HP:0000823Delayed puberty0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0000823HP:0000823Delayed puberty0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000823HP:0000823Delayed puberty0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM16137916268603197
HP:0000823HP:0000823Delayed puberty0POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM1121513711300603
HP:0000823HP:0000823Delayed puberty0POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0000823HP:0000823Delayed puberty0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0000823HP:0000823Delayed puberty0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0000823HP:0000823Delayed puberty0POR CL E G H544795699ORPHA1922259208124015
HP:0000823HP:0000823Delayed puberty0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM153414951613257
HP:0000823HP:0000823Delayed puberty0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA1213418455607002
HP:0000823HP:0000823Delayed puberty0PROK2 CL E G H60675432ArbovirosisORPHA1213418455607002
HP:0000823HP:0000823Delayed puberty0PROKR2 CL E G H12867495496ORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty0PROKR2 CL E G H128674432ArbovirosisORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty0PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA172117928608665
HP:0000823HP:0000823Delayed puberty0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000823HP:0000823Delayed puberty0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0000823HP:0000823Delayed puberty0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM1916115508608109
HP:0000823HP:0000823Delayed puberty0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000823HP:0000823Delayed puberty0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000823HP:0000823Delayed puberty0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000823HP:0000823Delayed puberty0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000823HP:0000823Delayed puberty0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000823HP:0000823Delayed puberty0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115021863612074
HP:0000823HP:0000823Delayed puberty0ROBO1 CL E G H609195496ORPHA1199310249602430
HP:0000823HP:0000823Delayed puberty0RPL11 CL E G H6135124Allain-Babin-Demarquez syndromeORPHA1456110301604175
HP:0000823HP:0000823Delayed puberty0RPL15 CL E G H6138124Allain-Babin-Demarquez syndromeORPHA172810306604174
HP:0000823HP:0000823Delayed puberty0RPL18 CL E G H6141124Allain-Babin-Demarquez syndromeORPHA12310310604179
HP:0000823HP:0000823Delayed puberty0RPL26 CL E G H6154124Allain-Babin-Demarquez syndromeORPHA113110327603704
HP:0000823HP:0000823Delayed puberty0RPL27 CL E G H6155124Allain-Babin-Demarquez syndromeORPHA111210328607526
HP:0000823HP:0000823Delayed puberty0RPL35 CL E G H11224124Allain-Babin-Demarquez syndromeORPHA132103440
HP:0000823HP:0000823Delayed puberty0RPL35A CL E G H6165124Allain-Babin-Demarquez syndromeORPHA1148210345180468
HP:0000823HP:0000823Delayed puberty0RPL5 CL E G H6125124Allain-Babin-Demarquez syndromeORPHA17710010360603634
HP:0000823HP:0000823Delayed puberty0RPS10 CL E G H6204124Allain-Babin-Demarquez syndromeORPHA155210383603632
HP:0000823HP:0000823Delayed puberty0RPS17 CL E G H6218124Allain-Babin-Demarquez syndromeORPHA1183010397180472
HP:0000823HP:0000823Delayed puberty0RPS19 CL E G H6223124Allain-Babin-Demarquez syndromeORPHA11759610402603474
HP:0000823HP:0000823Delayed puberty0RPS24 CL E G H6229124Allain-Babin-Demarquez syndromeORPHA1106210411602412
HP:0000823HP:0000823Delayed puberty0RPS26 CL E G H6231124Allain-Babin-Demarquez syndromeORPHA1345110414603701
HP:0000823HP:0000823Delayed puberty0RPS27 CL E G H6232124Allain-Babin-Demarquez syndromeORPHA111610416603702
HP:0000823HP:0000823Delayed puberty0RPS28 CL E G H6234124Allain-Babin-Demarquez syndromeORPHA111010418603685
HP:0000823HP:0000823Delayed puberty0RPS29 CL E G H6235124Allain-Babin-Demarquez syndromeORPHA141510419603633
HP:0000823HP:0000823Delayed puberty0RPS7 CL E G H6201124Allain-Babin-Demarquez syndromeORPHA1107510440603658
HP:0000823HP:0000823Delayed puberty0SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0000823HP:0000823Delayed puberty0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA1318210723603961
HP:0000823HP:0000823Delayed puberty0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000823HP:0000823Delayed puberty0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000823HP:0000823Delayed puberty0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150440710912600968
HP:0000823HP:0000823Delayed puberty0SLC29A3 CL E G H55315168569ORPHA12619023096612373
HP:0000823HP:0000823Delayed puberty0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM11165984061602671
HP:0000823HP:0000823Delayed puberty0SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM11165984061602671
HP:0000823HP:0000823Delayed puberty0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000823HP:0000823Delayed puberty0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000823HP:0000823Delayed puberty0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000823HP:0000823Delayed puberty0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA115119211190602229
HP:0000823HP:0000823Delayed puberty0SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000823HP:0000823Delayed puberty0SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA116028971615384
HP:0000823HP:0000823Delayed puberty0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA1113315533607984
HP:0000823HP:0000823Delayed puberty0SPRY4 CL E G H81848432ArbovirosisORPHA1113315533607984
HP:0000823HP:0000823Delayed puberty0SRY CL E G H6736251510ORPHA11099611311480000
HP:0000823HP:0000823Delayed puberty0STAT1 CL E G H6772391487ORPHA113024911362600555
HP:0000823HP:0000823Delayed puberty0TAC3 CL E G H6866432ArbovirosisORPHA1101911521162330
HP:0000823HP:0000823Delayed puberty0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA1377911528162332
HP:0000823HP:0000823Delayed puberty0TACR3 CL E G H6870432ArbovirosisORPHA1377911528162332
HP:0000823HP:0000823Delayed puberty0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142811546600774
HP:0000823HP:0000823Delayed puberty0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000823HP:0000823Delayed puberty0TBX3 CL E G H69263138ORPHA12516511602601621
HP:0000823HP:0000823Delayed puberty0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000823HP:0000823Delayed puberty0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1354711766190180
HP:0000823HP:0000823Delayed puberty0TSR2 CL E G H90121124Allain-Babin-Demarquez syndromeORPHA1214925455300945
HP:0000823HP:0000823Delayed puberty0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000823HP:0000823Delayed puberty0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000823HP:0000823Delayed puberty0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000823HP:0000823Delayed puberty0WDR11 CL E G H5571795496ORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty0WDR11 CL E G H55717432ArbovirosisORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty0WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000823HP:0000823Delayed puberty0WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000823HP:0000823Delayed puberty0WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000823HP:0000823Delayed puberty0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11320324249610957
HP:0000823HP:0000823Delayed puberty0ZFPM2 CL E G H23414251510ORPHA15214216700603693
HP:0000823HP:0000823Delayed puberty1ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0000823HP:0000823Delayed puberty1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA11913466211300836
HP:0000823HP:0000823Delayed puberty1ANOS1 CL E G H3730432ArbovirosisORPHA11913466211300836
HP:0000823HP:0000823Delayed puberty1ATM CL E G H472100ORPHA113248934795607585
HP:0000823HP:0000823Delayed puberty1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113248934795607585
HP:0000823HP:0000823Delayed puberty1BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA1281841068300247
HP:0000823HP:0000823Delayed puberty1BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM1281841068300247
HP:0000823HP:0000823Delayed puberty1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA116626821616031
HP:0000823HP:0000823Delayed puberty1CDON CL E G H5093795496ORPHA11339117104608707
HP:0000823HP:0000823Delayed puberty1CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty1CHD7 CL E G H55636432ArbovirosisORPHA1884126620626608892
HP:0000823HP:0000823Delayed puberty1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000823HP:0000823Delayed puberty1COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0000823HP:0000823Delayed puberty1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0000823HP:0000823Delayed puberty1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000823HP:0000823Delayed puberty1CYB5A CL E G H152890796ORPHA171422570613218
HP:0000823HP:0000823Delayed puberty1CYP11A1 CL E G H1583168558ORPHA130922590118485
HP:0000823HP:0000823Delayed puberty1CYP11A1 CL E G H1583289548ORPHA130922590118485
HP:0000823HP:0000823Delayed puberty1CYP17A1 CL E G H158690793ORPHA11301272593609300
HP:0000823HP:0000823Delayed puberty1CYP17A1 CL E G H158690796ORPHA11301272593609300
HP:0000823HP:0000823Delayed puberty1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA1411232701120470
HP:0000823HP:0000823Delayed puberty1DMRT3 CL E G H58524251510ORPHA1119313909614754
HP:0000823HP:0000823Delayed puberty1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA15243072602748
HP:0000823HP:0000823Delayed puberty1DUSP6 CL E G H1848432ArbovirosisORPHA15243072602748
HP:0000823HP:0000823Delayed puberty1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000823HP:0000823Delayed puberty1ENTPD1 CL E G H953401810ORPHA16533363601752
HP:0000823HP:0000823Delayed puberty1ENTPD1 CL E G H953615683Spastic paraplegia 64, autosomal recessive615683C3810289OMIM16533363601752
HP:0000823HP:0000823Delayed puberty1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA134122788613301
HP:0000823HP:0000823Delayed puberty1FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000823HP:0000823Delayed puberty1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA15823673603725
HP:0000823HP:0000823Delayed puberty1FGF17 CL E G H8822432ArbovirosisORPHA15823673603725
HP:0000823HP:0000823Delayed puberty1FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM15823673603725
HP:0000823HP:0000823Delayed puberty1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA141543686600483
HP:0000823HP:0000823Delayed puberty1FGF8 CL E G H2253432ArbovirosisORPHA141543686600483
HP:0000823HP:0000823Delayed puberty1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA12653883688136350
HP:0000823HP:0000823Delayed puberty1FGFR1 CL E G H2260432ArbovirosisORPHA12653883688136350
HP:0000823HP:0000823Delayed puberty1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA17413762604808
HP:0000823HP:0000823Delayed puberty1FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA1411183969136435
HP:0000823HP:0000823Delayed puberty1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0000823HP:0000823Delayed puberty1GATA1 CL E G H2623124Allain-Babin-Demarquez syndromeORPHA1152354170305371
HP:0000823HP:0000823Delayed puberty1GATA4 CL E G H2626251510ORPHA11713414173600576
HP:0000823HP:0000823Delayed puberty1GBA CL E G H262977261ORPHA14942064177606463
HP:0000823HP:0000823Delayed puberty1GBA CL E G H262977259ORPHA14942064177606463
HP:0000823HP:0000823Delayed puberty1GHR CL E G H2690633ORPHA11211814263600946
HP:0000823HP:0000823Delayed puberty1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0000823HP:0000823Delayed puberty1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000823HP:0000823Delayed puberty1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM132117493602842
HP:0000823HP:0000823Delayed puberty1GNRH1 CL E G H2796432ArbovirosisORPHA112974419152760
HP:0000823HP:0000823Delayed puberty1GNRHR CL E G H2798432ArbovirosisORPHA1591584421138850
HP:0000823HP:0000823Delayed puberty1GPR161 CL E G H2343295496ORPHA113223694612250
HP:0000823HP:0000823Delayed puberty1HBB CL E G H3043231214ORPHA187110094827141900
HP:0000823HP:0000823Delayed puberty1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000823HP:0000823Delayed puberty1HESX1 CL E G H882095496ORPHA127464877601802
HP:0000823HP:0000823Delayed puberty1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA127464877601802
HP:0000823HP:0000823Delayed puberty1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA18335201604846
HP:0000823HP:0000823Delayed puberty1HS6ST1 CL E G H9394432ArbovirosisORPHA18335201604846
HP:0000823HP:0000823Delayed puberty1HSD3B2 CL E G H328490791ORPHA163925218613890
HP:0000823HP:0000823Delayed puberty1IGFALS CL E G H3483140941ORPHA1341485468601489
HP:0000823HP:0000823Delayed puberty1IGFALS CL E G H3483615961Acid-labile subunit deficiency615961CN069120OMIM1341485468601489
HP:0000823HP:0000823Delayed puberty1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA1144917616606807
HP:0000823HP:0000823Delayed puberty1INSR CL E G H36432297Fetal brain disruption sequenceORPHA11964076091147670
HP:0000823HP:0000823Delayed puberty1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000823HP:0000823Delayed puberty1KISS1 CL E G H3814432ArbovirosisORPHA115256341603286
HP:0000823HP:0000823Delayed puberty1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA139784510604161
HP:0000823HP:0000823Delayed puberty1KISS1R CL E G H84634432ArbovirosisORPHA139784510604161
HP:0000823HP:0000823Delayed puberty1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000823HP:0000823Delayed puberty1LEPR CL E G H3953614963Leptin receptor deficiency614963C3554225OMIM1441446554601007
HP:0000823HP:0000823Delayed puberty1LHX4 CL E G H8988495496ORPHA12311621734602146
HP:0000823HP:0000823Delayed puberty1LMNA CL E G H400079474ORPHA157411526636150330
HP:0000823HP:0000823Delayed puberty1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000823HP:0000823Delayed puberty1MAP3K1 CL E G H4214251510ORPHA1331076848600982
HP:0000823HP:0000823Delayed puberty1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000823HP:0000823Delayed puberty1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000823HP:0000823Delayed puberty1MMP1 CL E G H431279408ORPHA18337155120353
HP:0000823HP:0000823Delayed puberty1MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA198414508605810
HP:0000823HP:0000823Delayed puberty1MRPS22 CL E G H56945618117OVARIAN DYSGENESIS 7618117CN253833OMIM198414508605810
HP:0000823HP:0000823Delayed puberty1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144810545607545
HP:0000823HP:0000823Delayed puberty1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000823HP:0000823Delayed puberty1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000823HP:0000823Delayed puberty1NR0B1 CL E G H190251510ORPHA12552707960300473
HP:0000823HP:0000823Delayed puberty1NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM12552707960300473
HP:0000823HP:0000823Delayed puberty1NR5A1 CL E G H2516251510ORPHA11891057983184757
HP:0000823HP:0000823Delayed puberty1NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA11891057983184757
HP:0000823HP:0000823Delayed puberty1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA1910429843608137
HP:0000823HP:0000823Delayed puberty1NSMF CL E G H26012432ArbovirosisORPHA1910429843608137
HP:0000823HP:0000823Delayed puberty1NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA1124029914607617
HP:0000823HP:0000823Delayed puberty1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1351628905171900
HP:0000823HP:0000823Delayed puberty1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000823HP:0000823Delayed puberty1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM16137916268603197
HP:0000823HP:0000823Delayed puberty1POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM1121513711300603
HP:0000823HP:0000823Delayed puberty1POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0000823HP:0000823Delayed puberty1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0000823HP:0000823Delayed puberty1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0000823HP:0000823Delayed puberty1POR CL E G H544795699ORPHA1922259208124015
HP:0000823HP:0000823Delayed puberty1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM153414951613257
HP:0000823HP:0000823Delayed puberty1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA1213418455607002
HP:0000823HP:0000823Delayed puberty1PROK2 CL E G H60675432ArbovirosisORPHA1213418455607002
HP:0000823HP:0000823Delayed puberty1PROKR2 CL E G H12867495496ORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty1PROKR2 CL E G H128674432ArbovirosisORPHA1839815836607123
HP:0000823HP:0000823Delayed puberty1PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA172117928608665
HP:0000823HP:0000823Delayed puberty1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000823HP:0000823Delayed puberty1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0000823HP:0000823Delayed puberty1PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM1916115508608109
HP:0000823HP:0000823Delayed puberty1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000823HP:0000823Delayed puberty1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000823HP:0000823Delayed puberty1RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000823HP:0000823Delayed puberty1RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000823HP:0000823Delayed puberty1RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000823HP:0000823Delayed puberty1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115021863612074
HP:0000823HP:0000823Delayed puberty1ROBO1 CL E G H609195496ORPHA1199310249602430
HP:0000823HP:0000823Delayed puberty1RPL11 CL E G H6135124Allain-Babin-Demarquez syndromeORPHA1456110301604175
HP:0000823HP:0000823Delayed puberty1RPL15 CL E G H6138124Allain-Babin-Demarquez syndromeORPHA172810306604174
HP:0000823HP:0000823Delayed puberty1RPL18 CL E G H6141124Allain-Babin-Demarquez syndromeORPHA12310310604179
HP:0000823HP:0000823Delayed puberty1RPL26 CL E G H6154124Allain-Babin-Demarquez syndromeORPHA113110327603704
HP:0000823HP:0000823Delayed puberty1RPL27 CL E G H6155124Allain-Babin-Demarquez syndromeORPHA111210328607526
HP:0000823HP:0000823Delayed puberty1RPL35 CL E G H11224124Allain-Babin-Demarquez syndromeORPHA132103440
HP:0000823HP:0000823Delayed puberty1RPL35A CL E G H6165124Allain-Babin-Demarquez syndromeORPHA1148210345180468
HP:0000823HP:0000823Delayed puberty1RPL5 CL E G H6125124Allain-Babin-Demarquez syndromeORPHA17710010360603634
HP:0000823HP:0000823Delayed puberty1RPS10 CL E G H6204124Allain-Babin-Demarquez syndromeORPHA155210383603632
HP:0000823HP:0000823Delayed puberty1RPS17 CL E G H6218124Allain-Babin-Demarquez syndromeORPHA1183010397180472
HP:0000823HP:0000823Delayed puberty1RPS19 CL E G H6223124Allain-Babin-Demarquez syndromeORPHA11759610402603474
HP:0000823HP:0000823Delayed puberty1RPS24 CL E G H6229124Allain-Babin-Demarquez syndromeORPHA1106210411602412
HP:0000823HP:0000823Delayed puberty1RPS26 CL E G H6231124Allain-Babin-Demarquez syndromeORPHA1345110414603701
HP:0000823HP:0000823Delayed puberty1RPS27 CL E G H6232124Allain-Babin-Demarquez syndromeORPHA111610416603702
HP:0000823HP:0000823Delayed puberty1RPS28 CL E G H6234124Allain-Babin-Demarquez syndromeORPHA111010418603685
HP:0000823HP:0000823Delayed puberty1RPS29 CL E G H6235124Allain-Babin-Demarquez syndromeORPHA141510419603633
HP:0000823HP:0000823Delayed puberty1RPS7 CL E G H6201124Allain-Babin-Demarquez syndromeORPHA1107510440603658
HP:0000823HP:0000823Delayed puberty1SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0000823HP:0000823Delayed puberty1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA1318210723603961
HP:0000823HP:0000823Delayed puberty1SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000823HP:0000823Delayed puberty1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000823HP:0000823Delayed puberty1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150440710912600968
HP:0000823HP:0000823Delayed puberty1SLC29A3 CL E G H55315168569ORPHA12619023096612373
HP:0000823HP:0000823Delayed puberty1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM11165984061602671
HP:0000823HP:0000823Delayed puberty1SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM11165984061602671
HP:0000823HP:0000823Delayed puberty1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000823HP:0000823Delayed puberty1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000823HP:0000823Delayed puberty1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000823HP:0000823Delayed puberty1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA115119211190602229
HP:0000823HP:0000823Delayed puberty1SOX9 CL E G H6662251510ORPHA114915511204608160
HP:0000823HP:0000823Delayed puberty1SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA116028971615384
HP:0000823HP:0000823Delayed puberty1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA1113315533607984
HP:0000823HP:0000823Delayed puberty1SPRY4 CL E G H81848432ArbovirosisORPHA1113315533607984
HP:0000823HP:0000823Delayed puberty1SRY CL E G H6736251510ORPHA11099611311480000
HP:0000823HP:0000823Delayed puberty1STAT1 CL E G H6772391487ORPHA113024911362600555
HP:0000823HP:0000823Delayed puberty1TAC3 CL E G H6866432ArbovirosisORPHA1101911521162330
HP:0000823HP:0000823Delayed puberty1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA1377911528162332
HP:0000823HP:0000823Delayed puberty1TACR3 CL E G H6870432ArbovirosisORPHA1377911528162332
HP:0000823HP:0000823Delayed puberty1TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142811546600774
HP:0000823HP:0000823Delayed puberty1TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000823HP:0000823Delayed puberty1TBX3 CL E G H69263138ORPHA12516511602601621
HP:0000823HP:0000823Delayed puberty1TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000823HP:0000823Delayed puberty1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1354711766190180
HP:0000823HP:0000823Delayed puberty1TSR2 CL E G H90121124Allain-Babin-Demarquez syndromeORPHA1214925455300945
HP:0000823HP:0000823Delayed puberty1VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0000823HP:0000823Delayed puberty1VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000823HP:0000823Delayed puberty1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000823HP:0000823Delayed puberty1WDR11 CL E G H5571795496ORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty1WDR11 CL E G H55717432ArbovirosisORPHA1189113831606417
HP:0000823HP:0000823Delayed puberty1WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000823HP:0000823Delayed puberty1WT1 CL E G H7490251510ORPHA118463512796607102
HP:0000823HP:0000823Delayed puberty1WWOX CL E G H51741251510ORPHA15059612799605131
HP:0000823HP:0000823Delayed puberty1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11320324249610957
HP:0000823HP:0000823Delayed puberty1ZFPM2 CL E G H23414251510ORPHA15214216700603693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000823HP:0000823Delayed puberty0AIP CL E G H90492965ORPHA0112273358605555
HP:0000823HP:0000823Delayed puberty0ALX4 CL E G H6052952022ORPHA027221450605420
HP:0000823HP:0000823Delayed puberty0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000823HP:0000823Delayed puberty0BRAF CL E G H67354595ORPHA0684901097164757
HP:0000823HP:0000823Delayed puberty0CDH23 CL E G H6407291347ORPHA0361143713733605516
HP:0000823HP:0000823Delayed puberty0CDH23 CL E G H640722965ORPHA0361143713733605516
HP:0000823HP:0000823Delayed puberty0CISD2 CL E G H4938563463ORPHA042324212611507
HP:0000823HP:0000823Delayed puberty0COL7A1 CL E G H129489842ORPHA08286912214120120
HP:0000823HP:0000823Delayed puberty0CTNNB1 CL E G H149954595ORPHA0541802514116806
HP:0000823HP:0000823Delayed puberty0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000823HP:0000823Delayed puberty0DEAF1 CL E G H10522819ORPHA01712914677602635
HP:0000823HP:0000823Delayed puberty0EXT2 CL E G H213252022ORPHA02582753513608210
HP:0000823HP:0000823Delayed puberty0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM071724200615584
HP:0000823HP:0000823Delayed puberty0FLII CL E G H2314819ORPHA021533750600362
HP:0000823HP:0000823Delayed puberty0GHR CL E G H2690314802ORPHA01211814263600946
HP:0000823HP:0000823Delayed puberty0GHSR CL E G H2693314811ORPHA0151074267601898
HP:0000823HP:0000823Delayed puberty0GLI2 CL E G H273695494ORPHA0883724318165230
HP:0000823HP:0000823Delayed puberty0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0000823HP:0000823Delayed puberty0HESX1 CL E G H882095494ORPHA027464877601802
HP:0000823HP:0000823Delayed puberty0IQSEC2 CL E G H23096819ORPHA05753929059300522
HP:0000823HP:0000823Delayed puberty0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0000823HP:0000823Delayed puberty0LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0000823HP:0000823Delayed puberty0LMNA CL E G H4000740Aortic arch interruptionORPHA057411526636150330
HP:0000823HP:0000823Delayed puberty0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000823HP:0000823Delayed puberty0MEN1 CL E G H42212965ORPHA074811317010613733
HP:0000823HP:0000823Delayed puberty0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000823HP:0000823Delayed puberty0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000823HP:0000823Delayed puberty0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000823HP:0000823Delayed puberty0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000823HP:0000823Delayed puberty0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000823HP:0000823Delayed puberty0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000823HP:0000823Delayed puberty0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000823HP:0000823Delayed puberty0MT-TF CL E G H4558550ORPHA07481590070
HP:0000823HP:0000823Delayed puberty0MT-TH CL E G H4564550ORPHA07487590040
HP:0000823HP:0000823Delayed puberty0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000823HP:0000823Delayed puberty0MT-TQ CL E G H4572550ORPHA07495590030
HP:0000823HP:0000823Delayed puberty0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000823HP:0000823Delayed puberty0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000823HP:0000823Delayed puberty0MT-TW CL E G H4578550ORPHA07501590095
HP:0000823HP:0000823Delayed puberty0NDP CL E G H4693649ORPHA01672077678300658
HP:0000823HP:0000823Delayed puberty0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0000823HP:0000823Delayed puberty0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014248816400606416
HP:0000823HP:0000823Delayed puberty0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM041687871300084
HP:0000823HP:0000823Delayed puberty0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000823HP:0000823Delayed puberty0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0000823HP:0000823Delayed puberty0OTX2 CL E G H501595494ORPHA078988522600037
HP:0000823HP:0000823Delayed puberty0PCSK1 CL E G H512271528ORPHA0491378743162150
HP:0000823HP:0000823Delayed puberty0PHF21A CL E G H5131752022ORPHA0123524156608325
HP:0000823HP:0000823Delayed puberty0POMC CL E G H544371526ORPHA042789201176830
HP:0000823HP:0000823Delayed puberty0POU1F1 CL E G H544995494ORPHA046729210173110
HP:0000823HP:0000823Delayed puberty0PROP1 CL E G H562695494ORPHA0421509455601538
HP:0000823HP:0000823Delayed puberty0PROP1 CL E G H562690695ORPHA0421509455601538
HP:0000823HP:0000823Delayed puberty0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0000823HP:0000823Delayed puberty0RAI1 CL E G H10743819ORPHA01164049834607642
HP:0000823HP:0000823Delayed puberty0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000823HP:0000823Delayed puberty0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0000823HP:0000823Delayed puberty0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0000823HP:0000823Delayed puberty0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0000823HP:0000823Delayed puberty0SOX3 CL E G H665890695ORPHA02821811199313430
HP:0000823HP:0000823Delayed puberty0SRY CL E G H67361772ORPHA01099611311480000
HP:0000823HP:0000823Delayed puberty0STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM013024911362600555
HP:0000823HP:0000823Delayed puberty0STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM015529111364102582
HP:0000823HP:0000823Delayed puberty0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0000823HP:0000823Delayed puberty0TRIP4 CL E G H9325486815ORPHA034812310604501
HP:0000823HP:0000823Delayed puberty0WFS1 CL E G H74663463ORPHA039371412762606201
HP:0000823HP:0000823Delayed puberty0ZMPSTE24 CL E G H1026990154ORPHA03413612877606480
HP:0000823HP:0000823Delayed puberty0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA03413612877606480
HP:0000823HP:0000823Delayed puberty1AIP CL E G H90492965ORPHA0112273358605555
HP:0000823HP:0000823Delayed puberty1ALX4 CL E G H6052952022ORPHA027221450605420
HP:0000823HP:0000823Delayed puberty1ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000823HP:0000823Delayed puberty1BRAF CL E G H67354595ORPHA0684901097164757
HP:0000823HP:0000823Delayed puberty1CDH23 CL E G H6407291347ORPHA0361143713733605516
HP:0000823HP:0000823Delayed puberty1CDH23 CL E G H640722965ORPHA0361143713733605516
HP:0000823HP:0000823Delayed puberty1CISD2 CL E G H4938563463ORPHA042324212611507
HP:0000823HP:0000823Delayed puberty1COL7A1 CL E G H129489842ORPHA08286912214120120
HP:0000823HP:0000823Delayed puberty1CTNNB1 CL E G H149954595ORPHA0541802514116806
HP:0000823HP:0000823Delayed puberty1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000823HP:0000823Delayed puberty1DEAF1 CL E G H10522819ORPHA01712914677602635
HP:0000823HP:0000823Delayed puberty1EXT2 CL E G H213252022ORPHA02582753513608210
HP:0000823HP:0000823Delayed puberty1FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM071724200615584
HP:0000823HP:0000823Delayed puberty1FLII CL E G H2314819ORPHA021533750600362
HP:0000823HP:0000823Delayed puberty1GHR CL E G H2690314802ORPHA01211814263600946
HP:0000823HP:0000823Delayed puberty1GHSR CL E G H2693314811ORPHA0151074267601898
HP:0000823HP:0000823Delayed puberty1GLI2 CL E G H273695494ORPHA0883724318165230
HP:0000823HP:0000823Delayed puberty1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA05622713315300269
HP:0000823HP:0000823Delayed puberty1HESX1 CL E G H882095494ORPHA027464877601802
HP:0000823HP:0000823Delayed puberty1IQSEC2 CL E G H23096819ORPHA05753929059300522
HP:0000823HP:0000823Delayed puberty1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA01273797132159555
HP:0000823HP:0000823Delayed puberty1LHX4 CL E G H8988495494ORPHA02311621734602146
HP:0000823HP:0000823Delayed puberty1LMNA CL E G H4000740Aortic arch interruptionORPHA057411526636150330
HP:0000823HP:0000823Delayed puberty1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000823HP:0000823Delayed puberty1MEN1 CL E G H42212965ORPHA074811317010613733
HP:0000823HP:0000823Delayed puberty1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000823HP:0000823Delayed puberty1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000823HP:0000823Delayed puberty1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000823HP:0000823Delayed puberty1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000823HP:0000823Delayed puberty1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000823HP:0000823Delayed puberty1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000823HP:0000823Delayed puberty1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000823HP:0000823Delayed puberty1MT-TF CL E G H4558550ORPHA07481590070
HP:0000823HP:0000823Delayed puberty1MT-TH CL E G H4564550ORPHA07487590040
HP:0000823HP:0000823Delayed puberty1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000823HP:0000823Delayed puberty1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000823HP:0000823Delayed puberty1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000823HP:0000823Delayed puberty1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000823HP:0000823Delayed puberty1MT-TW CL E G H4578550ORPHA07501590095
HP:0000823HP:0000823Delayed puberty1NDP CL E G H4693649ORPHA01672077678300658
HP:0000823HP:0000823Delayed puberty1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA043780928862608667
HP:0000823HP:0000823Delayed puberty1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014248816400606416
HP:0000823HP:0000823Delayed puberty1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM041687871300084
HP:0000823HP:0000823Delayed puberty1NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000823HP:0000823Delayed puberty1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0000823HP:0000823Delayed puberty1OTX2 CL E G H501595494ORPHA078988522600037
HP:0000823HP:0000823Delayed puberty1PCSK1 CL E G H512271528ORPHA0491378743162150
HP:0000823HP:0000823Delayed puberty1PHF21A CL E G H5131752022ORPHA0123524156608325
HP:0000823HP:0000823Delayed puberty1POMC CL E G H544371526ORPHA042789201176830
HP:0000823HP:0000823Delayed puberty1POU1F1 CL E G H544995494ORPHA046729210173110
HP:0000823HP:0000823Delayed puberty1PROP1 CL E G H562690695ORPHA0421509455601538
HP:0000823HP:0000823Delayed puberty1PROP1 CL E G H562695494ORPHA0421509455601538
HP:0000823HP:0000823Delayed puberty1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA0131499811606462
HP:0000823HP:0000823Delayed puberty1RAI1 CL E G H10743819ORPHA01164049834607642
HP:0000823HP:0000823Delayed puberty1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000823HP:0000823Delayed puberty1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA03823625566615743
HP:0000823HP:0000823Delayed puberty1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA010048411111300040
HP:0000823HP:0000823Delayed puberty1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA0282132468606062
HP:0000823HP:0000823Delayed puberty1SOX3 CL E G H665890695ORPHA02821811199313430
HP:0000823HP:0000823Delayed puberty1SRY CL E G H67361772ORPHA01099611311480000
HP:0000823HP:0000823Delayed puberty1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM013024911362600555
HP:0000823HP:0000823Delayed puberty1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM015529111364102582
HP:0000823HP:0000823Delayed puberty1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0000823HP:0000823Delayed puberty1TRIP4 CL E G H9325486815ORPHA034812310604501
HP:0000823HP:0000823Delayed puberty1WFS1 CL E G H74663463ORPHA039371412762606201
HP:0000823HP:0000823Delayed puberty1ZMPSTE24 CL E G H1026990154ORPHA03413612877606480
HP:0000823HP:0000823Delayed puberty1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA03413612877606480


Genes (188) :AIP ALDOA ALX4 ANOS1 ATAD3A ATM BMP15 BRAF CCDC141 CDH23 CDON CHD7 CISD2 COL7A1 COX1 COX2 COX3 CTNNB1 CTNS CUL4B CYB5A CYP11A1 CYP17A1 DACT1 DCC DEAF1 DMRT3 DUSP6 EIF2S3 ENTPD1 EXT2 FAM111B FEZF1 FGD1 FGF17 FGF8 FGFR1 FLII FLRT3 FSHB FSHR G6PC GATA1 GATA4 GBA GHR GHSR GLA GLI2 GMNN GNRH1 GNRHR GPR161 HBB HDAC8 HERC2 HESX1 HS6ST1 HSD3B2 IGFALS IL17RD INSR IPW IQSEC2 KISS1 KISS1R KMT2A LAS1L LEPR LHX4 LMNA MAGEL2 MAP3K1 MAP3K7 MEN1 MKRN3 MKRN3-AS1 MMP1 MRPS22 MSMO1 ND1 ND4 ND5 ND6 NDN NDP NIPBL NLRP3 NONO NOTCH2 NPAP1 NR0B1 NR5A1 NSMF NUP107 OCRL OTX2 PCSK1 PGM1 PHF21A PHF6 PNPLA6 POF1B POLR3A POLR3B POMC POR POU1F1 PPP1R15B PROK2 PROKR2 PROP1 PSMC3IP PTPN11 PUS1 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBM28 ROBO1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SCARB2 SEMA3A SEMA3E SETD5 SLC12A3 SLC29A3 SLC37A4 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SOX10 SOX3 SOX9 SPIDR SPRY4 SRY STAT1 STAT3 STUB1 TAC3 TACR3 TAF13 TBC1D20 TBX3 TGFB1 TRIP4 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSR2 VAMP7 VPS13B WDR11 WFS1 WT1 WWOX YARS2 ZFPM2 ZMPSTE24

Diseases (103) :2965 611881 52022 478 432 496790 100 208900 243 300510 54595 91347 95496 138 214800 3463 89842 79408 550 219800 300354 90796 168558 289548 90793 857 819 251510 300148 401810 615683 615704 305400 615270 232200 124 77259 77261 314802 633 314811 301500 324 95494 616835 231214 199 176270 90791 140941 615961 2297 309585 614963 79474 740 617137 618117 616834 649 575 300967 955 300200 534 71528 614921 301900 275400 300604 447896 607694 71526 95699 616817 90695 151100 2598 600462 2510 612079 263800 168569 232220 232240 1772 391487 614162 615952 617432 3138 181450 1328 131300 486815 193 216550 411590 90154 52901 262500 412057 616033
 

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