Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Puberty and gonadal disorders (HP:0008373)help
..Starting node
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Absence of secondary sex characteristics (HP:0008187)help
Term ID: 8187
Name: Absence of secondary sex characteristics
Synonym: No secondary sexual characteristics at puberty
Definition: No secondary sexual characteristics are present at puberty.
Comments:
Reference: HP:0008187
Genes and Diseases:
 
       Child Nodes:

 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 pubertal development (HP:0008197) 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:0008187HP:0008187Absence of secondary sex characteristics0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0008187HP:0008187Absence of secondary sex characteristics0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0008187HP:0008187Absence of secondary sex characteristics0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0008187HP:0008187Absence of secondary sex characteristics0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0008187HP:0008187Absence of secondary sex characteristics0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0008187HP:0008187Absence of secondary sex characteristics0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0008187HP:0008187Absence of secondary sex characteristics0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0008187HP:0008187Absence of secondary sex characteristics0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0008187HP:0008187Absence of secondary sex characteristics0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0008187HP:0008187Absence of secondary sex characteristics0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0008187HP:0008187Absence of secondary sex characteristics0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008187HP:0008187Absence of secondary sex characteristics0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0008187HP:0008187Absence of secondary sex characteristics0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0008187HP:0008187Absence of secondary sex characteristics0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional
HP:0008187HP:0008187Absence of secondary sex characteristics0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0008187HP:0008187Absence of secondary sex characteristics0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional173
HP:0008187HP:0008187Absence of secondary sex characteristics0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0008187HP:0008187Absence of secondary sex characteristics0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0008187HP:0008187Absence of secondary sex characteristics0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional21
HP:0008187HP:0008187Absence of secondary sex characteristics0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0008187HP:0008187Absence of secondary sex characteristics0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008187HP:0008187Absence of secondary sex characteristics0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0008187HP:0008187Absence of secondary sex characteristics0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040281 - Very frequent47
HP:0008187HP:0008187Absence of secondary sex characteristics0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040281 - Very frequent46
HP:0008187HP:0008187Absence of secondary sex characteristics0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional43
HP:0008187HP:0008187Absence of secondary sex characteristics0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0008187HP:0008187Absence of secondary sex characteristics0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0008187HP:0008187Absence of secondary sex characteristics0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0008187HP:0008187Absence of secondary sex characteristics0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008187HP:0008187Absence of secondary sex characteristics0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional41
HP:0008187HP:0008187Absence of secondary sex characteristics0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0008187HP:0008187Absence of secondary sex characteristics0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional36
HP:0008187HP:0008187Absence of secondary sex characteristics0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0008187HP:0008187Absence of secondary sex characteristics0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008187HP:0008187Absence of secondary sex characteristics0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional54
HP:0008187HP:0008187Absence of secondary sex characteristics0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional54
HP:0008187HP:0008187Absence of secondary sex characteristics0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional24
HP:0008187HP:0008187Absence of secondary sex characteristics0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0008187HP:0008187Absence of secondary sex characteristics0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0008187HP:0008187Absence of secondary sex characteristics0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0008187HP:0008187Absence of secondary sex characteristics0SRY CL E G H673611311OMIM:40004446XY sex reversal 1.23
HP:0008187HP:0008187Absence of secondary sex characteristics0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008187HP:0008187Absence of secondary sex characteristics0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008187HP:0008187Absence of secondary sex characteristics0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0008187HP:0008187Absence of secondary sex characteristics0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0008187HP:0008187Absence of secondary sex characteristics0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0008187HP:0008187Absence of secondary sex characteristics0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0008187HP:0008187Absence of secondary sex characteristics0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31


Genes (44) :CHD7 CYB5A CYP11A1 CYP17A1 DHX37 DMRT3 DUSP6 ESR1 FGF17 FGF8 FGFR1 FOXA2 GATA4 GLI2 GNRH1 GNRHR HESX1 HS6ST1 KISS1 KISS1R LEP LEPR LHX4 MAP3K1 NR0B1 NR5A1 NSMF OTX2 POLA1 POU1F1 PROK2 PROKR2 PROP1 SOX3 SOX9 SPRY4 SRY TAC3 TACR3 VAMP7 WDR11 WT1 WWOX ZFPM2

Diseases (13) :ORPHA:432 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 ORPHA:251510 ORPHA:785 ORPHA:95494 ORPHA:66628 ORPHA:179494 ORPHA:163976 ORPHA:90695 OMIM:400044
 

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