Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormal circulating hormone concentration (HP:0003117)help
Parent Node:
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Puberty and gonadal disorders (HP:0008373)help
..Starting node
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Abnormal circulating progesterone level (HP:0031212)help
Term ID: 31212
Name: Abnormal circulating progesterone level
Synonym:
Definition:
Comments:
Reference: HP:0031212
Genes and Diseases:
 
       Child Nodes:
........expandDecreased circulating progesterone (HP:0008233) help
........expandElevated circulating 17-hydroxyprogesterone (HP:0031213) help
........expandIncreased circulating progesterone (HP:0031216) help

 Sister Nodes: 
..expandAbnormal circulating estrogen level (HP:0025132) 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
..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:0031212HP:0031212Abnormal circulating progesterone level0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0031212HP:0031212Abnormal circulating progesterone level0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0031212HP:0031212Abnormal circulating progesterone level0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter42
HP:0031212HP:0031212Abnormal circulating progesterone level0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter24
HP:0031212HP:0031212Abnormal circulating progesterone level0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter32
HP:0031212HP:0031212Abnormal circulating progesterone level0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter38
HP:0031212HP:0031212Abnormal circulating progesterone level0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter48
HP:0031212HP:0031212Abnormal circulating progesterone level0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus92
HP:0031212HP:0031212Abnormal circulating progesterone level0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0031212HP:0031212Abnormal circulating progesterone level0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0031212HP:0031212Abnormal circulating progesterone level0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0031212HP:0031213Elevated circulating 17-hydroxyprogesterone1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0031212HP:0031216Increased circulating progesterone1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0031212HP:0008233Decreased circulating progesterone1EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0031212HP:0008233Decreased circulating progesterone1EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0031212HP:0008233Decreased circulating progesterone1EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0031212HP:0008233Decreased circulating progesterone1EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0031212HP:0008233Decreased circulating progesterone1EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0031212HP:0008233Decreased circulating progesterone1FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0031212HP:0031213Elevated circulating 17-hydroxyprogesterone1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0031212HP:0008233Decreased circulating progesterone1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0031212HP:0031213Elevated circulating 17-hydroxyprogesterone1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0031212HP:0031213Elevated circulating 17-hydroxyprogesterone1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040282 - Frequent76
HP:0031212HP:0031216Increased circulating progesterone1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040282 - Frequent76


Genes (10) :CYP11B1 CYP17A1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FOXL2 HSD3B2 POR

Diseases (7) :ORPHA:90795 ORPHA:90793 OMIM:603896 ORPHA:572333 ORPHA:90791 OMIM:201750 ORPHA:95699
 

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