Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
Parent Node:
expand
Puberty and gonadal disorders (HP:0008373)help
..Starting node
..expand
Absence of pubertal development (HP:0008197)help
Term ID: 8197
Name: Absence of pubertal development
Synonym:
Definition:
Comments:
Reference: HP:0008197
Genes and Diseases:
 
       Child Nodes:
........expandPubertal developmental failure in females (HP:0008647) help

 Sister Nodes: 
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal circulating testosterone concentration (HP:0030087) help
..expandAbsence of secondary sex characteristics (HP:0008187) help
..expandAdrenogenital syndrome (HP:0000840) help
..expandAndrogen insufficiency (HP:0008226) help
..expandDelayed puberty (HP:0000823) help
..expandEarly onset of sexual maturation (HP:0100000) help
..expandHypogonadism (HP:0000135) help
..expandIrregular menstruation (HP:0000858) help
..expandLeydig cell insensitivity to gonadotropin (HP:0002929) help
..expandPrimary gonadal insufficiency (HP:0008193) 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:0008197HP:0008197Absence of pubertal development0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0008197HP:0008197Absence of pubertal development0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0008197HP:0008197Absence of pubertal development0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0008197HP:0008197Absence of pubertal development0DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0008197HP:0008197Absence of pubertal development0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0008197HP:0008197Absence of pubertal development0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0008197HP:0008197Absence of pubertal development0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0008197HP:0008197Absence of pubertal development0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008197HP:0008197Absence of pubertal development0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0008197HP:0008197Absence of pubertal development0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0008197HP:0008197Absence of pubertal development0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0008197HP:0008197Absence of pubertal development0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0008197HP:0008197Absence of pubertal development0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0008197HP:0008197Absence of pubertal development0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmia9
HP:0008197HP:0008197Absence of pubertal development0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008197HP:0008197Absence of pubertal development0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0008197HP:0008197Absence of pubertal development0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0008197HP:0008197Absence of pubertal development0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0008197HP:0008197Absence of pubertal development0NHLH2 CL E G H48087818OMIM:619755HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0008197HP:0008197Absence of pubertal development0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0008197HP:0008197Absence of pubertal development0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008197HP:0008197Absence of pubertal development0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0008197HP:0008197Absence of pubertal development0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0008197HP:0008197Absence of pubertal development0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008197HP:0008197Absence of pubertal development0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0008197HP:0008197Absence of pubertal development0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0008197HP:0008197Absence of pubertal development0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008197HP:0008197Absence of pubertal development0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0008197HP:0008197Absence of pubertal development0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008197HP:0008197Absence of pubertal development0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0008197HP:0008197Absence of pubertal development0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0008197HP:0008647Pubertal developmental failure in females1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent645
HP:0008197HP:0008647Pubertal developmental failure in females1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040281 - Very frequent83


Genes (29) :CHD7 CYP17A1 DCHS1 DHX37 DUSP6 ESR1 FAT4 FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 IL17RD KISS1 KISS1R LMNA MAGEL2 NHLH2 NR0B1 NSMF PROK2 PROKR2 SIM1 SPRY4 TAC3 TACR3 WDR11 ZMPSTE24

Diseases (13) :ORPHA:432 ORPHA:90793 ORPHA:314679 OMIM:273250 ORPHA:785 OMIM:615267 ORPHA:740 ORPHA:398069 OMIM:619755 OMIM:300200 OMIM:610628 ORPHA:398079 OMIM:614840
 

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