Human Phenotype Ontology 
Grandparent Node:
expandPhenotypic abnormality (HP:0000118)help
Parent Node:
expandAbnormality of the endocrine system (HP:0000818)help
..Starting node
..expandPuberty and gonadal disorders (HP:0008373)help
Term ID: 8373
Name: Puberty and gonadal disorders
Synonym: Puberty and gonadal disorders
Definition:
Comments:
Reference: HP:0008373
Genes and Diseases:
 
       Child Nodes:
........expandHypogonadism (HP:0000135) help
................... HP:0000026 Male hypogonadism
................... HP:0000044 Hypogonadotrophic hypogonadism
................... HP:0000134 Female hypogonadism
................... HP:0000815 Hypergonadotropic hypogonadism
........expandDelayed puberty (HP:0000823) help
................... HP:0012569 Delayed menarche
................... HP:0025453 Delayed adrenarche
................... HP:0025515 Delayed thelarche
........expandAdrenogenital syndrome (HP:0000840) help
........expandMenstrual irregularities (HP:0000858) help
................... HP:0000140 Abnormality of the menstrual cycle
................... HP:0100607 Dysmenorrhea
........expandLeydig cell insensitivity to gonadotropin (HP:0002929) help
........expandAbsence of secondary sex characteristics (HP:0008187) help
........expandPrimary gonadal insufficiency (HP:0008193) help
........expandAbsence of pubertal development (HP:0008197) help
................... HP:0008647 Pubertal developmental failure in females
........expandAndrogen insufficiency (HP:0008226) help
........expandAbnormal circulating estrogen level (HP:0025132) help
................... HP:0025133 Abnormal serum estradiol
................... HP:0025135 Abnormal serum estriol
................... HP:0025138 Abnormal serum estrone
........expandAbnormal serum testosterone level (HP:0030087) help
................... HP:0030088 Increased serum testosterone level
................... HP:0040171 Decreased serum testosterone level
........expandAbnormal circulating progesterone level (HP:0031212) help
................... HP:0008233 Decreased circulating progesterone
................... HP:0031213 Elevated circulating 17-hydroxyprogesterone
................... HP:0031216 Increased circulating progesterone
........expandEarly onset of sexual maturation (HP:0100000) help
................... HP:0000826 Precocious puberty
................... HP:0012412 Premature adrenarche

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008373HP:0008373Puberty and gonadal disorders0HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000823Delayed puberty1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0100000Early onset of sexual maturation1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008197Absence of pubertal development1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008226Androgen insufficiency1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008193Primary gonadal insufficiency1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000840Adrenogenital syndrome1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0002929Leydig cell insensitivity to gonadotropin1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008187Absence of secondary sex characteristics1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000135Hypogonadism1HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008647Pubertal developmental failure in females2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000044Hypogonadotropic hypogonadism2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0012412Premature adrenarche2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000815Hypergonadotropic hypogonadism2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0025515Delayed thelarche2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000134Female hypogonadism2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0012569Delayed menarche2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000026Male hypogonadism2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0025453Delayed adrenarche2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0000826Precocious puberty2HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008185Precocious puberty in males3HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0010465Precocious puberty in females3HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0010314Premature thelarche3HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008236Isosexual precocious puberty3HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0012411Premature pubarche3HACE1 CL E G H57531464282ORPHA022721033610876
HP:0008373HP:0008204Precocious puberty with Sertoli cell tumor3HACE1 CL E G H57531464282ORPHA022721033610876


Genes (499) :A2ML1 ABCA4 ABCD1 AGBL5 AGPAT2 AHI1 AHR AHSG AIP AIRE ALDOA ALG1 ALMS1 ALX4 AMACR ANK1 ANOS1 ANTXR1 APC2 AR ARHGEF18 ARL2BP ARL3 ARL6 ARSE ATAD3A ATM ATRX AXL BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 BMP15 BMP4 BMPR1B BRAF BRCA1 BRCA2 BRIP1 BSCL2 C8ORF37 CA4 CAMKMT CAV1 CAVIN1 CBX2 CCDC141 CDH23 CDHR1 CDKN1C CDON CEP290 CERKL CHD7 CHRNG CISD2 CLIP2 CLPP CLRN1 CNBP CNGA1 CNGB1 COL7A1 COQ2 COX1 COX2 COX3 CPLX1 CRB1 CREBBP CRX CTBP1 CTDP1 CTNNB1 CTNS CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DACT1 DCAF17 DCC DDB2 DDX3X DEAF1 DHCR7 DHDDS DHH DHX38 DMPK DMRT1 DMRT3 DMXL2 DNAL4 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 ELN ENTPD1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 EXT2 EYS FAM111B FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FEZF1 FGD1 FGF17 FGF8 FGFR1 FGFRL1 FLI1 FLII FLRT3 FMR1 FOS FSCN2 FSHB FSHR G6PC GABRD GALT GATA1 GATA4 GBA GHR GHSR GJB2 GLA GLI2 GLI3 GMNN GNAS GNRH1 GNRHR GPR101 GPR161 GTF2I GTF2IRD1 GUCA1B HACE1 HAMP HBB HDAC8 HERC2 HESX1 HFE HGSNAT HJV HRAS HS6ST1 HSD11B1 HSD17B3 HSD3B2 HYMAI IDH1 IDH2 IDH3B IER3IP1 IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGFALS IL17RD IMPDH1 IMPG2 INPP5K INSR IPW IQSEC2 ITGB6 KAT6B KCNAB2 KDM6A KIAA1549 KISS1 KISS1R KIZ KLHL7 KMT2A KMT2D KRAS LAS1L LEP LEPR LETM1 LHB LHCGR LHX4 LIMK1 LMNA LRAT LRP5 LZTFL1 LZTR1 MAB21L2 MAD2L2 MAGEL2 MAK MAP2K1 MAP3K1 MAP3K7 MEN1 MERTK MGME1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP1 MRE11 MRPS22 MRPS7 MSMO1 ND1 ND4 ND5 ND6 NDN NDP NECTIN1 NEK2 NIPBL NLRP3 NNT NONO NOTCH2 NPAP1 NPHP1 NR0B1 NR2E3 NR3C1 NR5A1 NRAS NRL NSD1 NSD2 NSMCE2 NSMF NTN1 NUP107 OCRL OFD1 OTX2 PALB2 PAPSS2 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PEX1 PEX6 PGM1 PHF21A PHF6 PHGDH PLAGL1 PLXND1 PMM2 PNPLA6 POF1B POLD1 POLG POLR1C POLR3A POLR3B POMC POMGNT1 POR POU1F1 PPARG PPM1B PPP1R15B PRCD PRDM16 PREPL PRKACA PRKAR1A PRLR PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAT1 PSMC3IP PTCH1 PTCH2 PTDSS1 PTH1R PTPN11 PUS1 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RAP1A RAP1B RASA2 RBM28 RBP3 RDH12 RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RIN2 RIT1 RLBP1 RNF216 ROBO1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRM2B SAG SALL1 SAMD9 SCAPER SCARB2 SCP2 SDCCAG8 SEMA3A SEMA3E SEMA4A SETD2 SETD5 SGPL1 SIL1 SIN3A SIX6 SKI SLC12A3 SLC29A3 SLC37A4 SLC39A4 SLC3A1 SLC52A2 SLC52A3 SLC7A14 SLX4 SMAD4 SMC1A SMC3 SMCHD1 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPATA7 SPIDR SPRY4 SRA1 SRY STAR STAT1 STAT3 STEAP3 STK11 STS STUB1 SUFU TAC3 TACR3 TAF13 TANGO2 TBC1D20 TBL2 TBX3 TFR2 TGFB1 TOPORS TP63 TRAF3IP1 TRIM32 TRIP4 TRMT10A TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TSR2 TTC8 TUB TULP1 TWNK TYMP UBE2T USH2A VAMP7 VPS13B WDPCP WDR11 WFS1 WHCR WRN WT1 WWOX XPA XPC XRCC2 XRCC4 YARS2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF513

Diseases (328) :464282 791 300100 2965 611881 79327 608540 52022 228390 478 432 308700 2067 312300 110 302950 496790 100 208900 309580 209900 615987 615989 615981 615982 615983 123 262000 243 300510 54595 163950 84 163693 91347 85173 95496 138 214800 2990 3463 602668 79408 89842 550 219800 85293 300354 90796 289548 168558 90795 202010 103900 90793 202110 201910 857 910 819 160900 251510 616113 603896 300148 194050 401810 615683 1466 601675 610651 216400 785 615704 616030 305400 615270 261483 229070 232200 1606 124 77261 77259 633 314802 314811 301500 324 95494 615849 616835 103580 612462 79230 613313 231214 199 300882 176270 465508 90791 614231 615996 617119 73272 140941 615961 615267 559 2297 309585 66628 614962 179494 614963 228300 79474 740 615994 615547 617137 618117 617872 616834 649 3253 575 300967 955 300200 436182 534 71528 189439 280651 950 3220 614921 127 301900 79351 2671 275400 300604 615381 447896 607694 71526 95699 616817 101800 90695 262600 2658 151100 2598 600462 2510 612079 221016 268400 615993 617575 94065 263800 168569 232220 232240 201100 97229 2588 603457 2250 66631 163746 613266 1772 400044 201710 391487 614162 615952 300298 615234 281090 412057 615768 614840 617432 3138 181450 1328 131300 616629 615988 486815 615985 609286 193 216550 411590 902 277700 3042 90154 648 528 2850 963 240300 64 203800 614307 251066 821 146110 904 607932 609441 242 612370 614129 607426 194190 48431 604168 613546 91 3464 241080 238722 457260 300958 270400 168563 227650 227645 227646 600901 612702 147950 370348 52901 230400 262500 494 672 146510 79443 562 79444 174800 3459 235200 602390 163200 752 96191 296 769 246200 262190 217377 2322 614842 614837 3000 238320 2229 212112 615877 352447 615084 251347 614736 393 786 614838 2637 210720 600955 570 212065 1180 215470 1173 157640 298 88637 614381 397685 610628 244200 377 201000 1387 212720 217335 613075 212840 617053 613724 248800 206900 602782 614839 604250 604292 616033 805 191100 613254 271245 616138 347 259050 180849 614662 201810 147920 176400 176410 2788 615346 612847 175200 616878
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.