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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Primary gonadal insufficiency (HP:0008193)help
Term ID: 8193
Name: Primary gonadal insufficiency
Synonym:
Definition:
Comments:
Reference: HP:0008193
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
..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
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008193HP:0008193Primary gonadal insufficiency0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0008193HP:0008193Primary gonadal insufficiency0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0008193HP:0008193Primary gonadal insufficiency0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0008193HP:0008193Primary gonadal insufficiency0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0008193HP:0008193Primary gonadal insufficiency0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0008193HP:0008193Primary gonadal insufficiency0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0008193HP:0008193Primary gonadal insufficiency0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0008193HP:0008193Primary gonadal insufficiency0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0008193HP:0008193Primary gonadal insufficiency0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0008193HP:0008193Primary gonadal insufficiency0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0008193HP:0008193Primary gonadal insufficiency0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0008193HP:0008193Primary gonadal insufficiency0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0008193HP:0008193Primary gonadal insufficiency0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0008193HP:0008193Primary gonadal insufficiency0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent2
HP:0008193HP:0008193Primary gonadal insufficiency0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0008193HP:0008193Primary gonadal insufficiency0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0008193HP:0008193Primary gonadal insufficiency0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0008193HP:0008193Primary gonadal insufficiency0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0008193HP:0008193Primary gonadal insufficiency0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0008193HP:0008193Primary gonadal insufficiency0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0008193HP:0008193Primary gonadal insufficiency0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent9
HP:0008193HP:0008193Primary gonadal insufficiency0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31


Genes (22) :CYB5A CYP17A1 DHX37 DMRT3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GATA4 MAP3K1 NR0B1 NR5A1 NSMCE2 SOX9 SRY VAMP7 WFS1 WT1 WWOX XRCC4 ZFPM2

Diseases (5) :ORPHA:90796 ORPHA:251510 OMIM:603896 ORPHA:436182 ORPHA:411590
 

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