Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Grandparent Node:
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Abnormality of the diencephalon (HP:0010662)help
Grandparent Node:
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Abnormality of the hypothalamus-pituitary axis (HP:0000864)help
Parent Node:
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Abnormal gonadotropin-releasing hormone concentration (HP:0500012)help
Parent Node:
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Abnormal hypothalamus physiology (HP:0012285)help
..Starting node
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Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)help
Term ID: 3164
Name: Hypothalamic gonadotropin-releasing hormone deficiency
Synonym: Hypothalamic GNRH deficiency
Definition:
Comments:
Reference: HP:0003164
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypothalamic hypothyroidism (HP:0008237) help
..expandHypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287) 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:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0003164HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10


Genes (21) :ANOS1 CCDC141 CHD7 DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 HESX1 HS6ST1 IL17RD NDNF PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3 WDR11

Diseases (3) :OMIM:308700 ORPHA:478 OMIM:618841
 

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