Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of the diencephalon (HP:0010662)help
Parent Node:
expand
Abnormality of the hypothalamus-pituitary axis (HP:0000864)help
..Starting node
..expand
Abnormal hypothalamus physiology (HP:0012285)help
Term ID: 12285
Name: Abnormal hypothalamus physiology
Synonym:
Definition: An abnormal functionality of the hypothalamus.
Comments:
Reference: HP:0012285
Genes and Diseases:
 
       Child Nodes:
........expandHypothalamic gonadotropin-releasing hormone deficiency (HP:0003164) help
........expandHypothalamic hypothyroidism (HP:0008237) help
........expandHypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287) help

 Sister Nodes: 
..expandAbnormality of the pituitary gland (HP:0012503) 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:0012285HP:0012285Abnormal hypothalamus physiology0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0012285HP:0012285Abnormal hypothalamus physiology0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0012285HP:0012285Abnormal hypothalamus physiology0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0012285HP:0012285Abnormal hypothalamus physiology0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0012285HP:0012285Abnormal hypothalamus physiology0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0012285HP:0012285Abnormal hypothalamus physiology0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0012285HP:0012285Abnormal hypothalamus physiology0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0012285HP:0012285Abnormal hypothalamus physiology0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0012285HP:0012285Abnormal hypothalamus physiology0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0012285HP:0012285Abnormal hypothalamus physiology0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0012285HP:0012285Abnormal hypothalamus physiology0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0012285HP:0012285Abnormal hypothalamus physiology0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0012285HP:0012285Abnormal hypothalamus physiology0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0012285HP:0012285Abnormal hypothalamus physiology0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0012285HP:0012285Abnormal hypothalamus physiology0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0012285HP:0012285Abnormal hypothalamus physiology0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0012285HP:0012285Abnormal hypothalamus physiology0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0012285HP:0012285Abnormal hypothalamus physiology0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0012285HP:0012285Abnormal hypothalamus physiology0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0012285HP:0012285Abnormal hypothalamus physiology0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0012285HP:0012285Abnormal hypothalamus physiology0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0012285HP:0012285Abnormal hypothalamus physiology0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0012285HP:0012285Abnormal hypothalamus physiology0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0012285HP:0012285Abnormal hypothalamus physiology0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0012285HP:0012285Abnormal hypothalamus physiology0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0012285HP:0012285Abnormal hypothalamus physiology0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0012285HP:0012285Abnormal hypothalamus physiology0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0012285HP:0012285Abnormal hypothalamus physiology0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0012285HP:0012285Abnormal hypothalamus physiology0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0012285HP:0012285Abnormal hypothalamus physiology0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0012285HP:0012285Abnormal hypothalamus physiology0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0012285HP:0012285Abnormal hypothalamus physiology0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0012285HP:0012285Abnormal hypothalamus physiology0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0012285HP:0012285Abnormal hypothalamus physiology0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0012285HP:0012285Abnormal hypothalamus physiology0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0012285HP:0012285Abnormal hypothalamus physiology0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0012285HP:0012285Abnormal hypothalamus physiology0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0012285HP:0012285Abnormal hypothalamus physiology0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0012285HP:0012285Abnormal hypothalamus physiology0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0012285HP:0012285Abnormal hypothalamus physiology0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0012285HP:0012285Abnormal hypothalamus physiology0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0012285HP:0012285Abnormal hypothalamus physiology0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0012285HP:0012285Abnormal hypothalamus physiology0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0012285HP:0012285Abnormal hypothalamus physiology0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0012285HP:0012285Abnormal hypothalamus physiology0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0012285HP:0012285Abnormal hypothalamus physiology0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0012285HP:0012285Abnormal hypothalamus physiology0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0012285HP:0012285Abnormal hypothalamus physiology0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0012285HP:0012285Abnormal hypothalamus physiology0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0012285HP:0012285Abnormal hypothalamus physiology0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0012285HP:0012285Abnormal hypothalamus physiology0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0012285HP:0012285Abnormal hypothalamus physiology0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0012285HP:0012285Abnormal hypothalamus physiology0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0012285HP:0012285Abnormal hypothalamus physiology0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0012285HP:0012285Abnormal hypothalamus physiology0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0012285HP:0012285Abnormal hypothalamus physiology0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0012285HP:0012285Abnormal hypothalamus physiology0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0012285HP:0012285Abnormal hypothalamus physiology0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0012285HP:0012285Abnormal hypothalamus physiology0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0012285HP:0012285Abnormal hypothalamus physiology0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0012285HP:0012285Abnormal hypothalamus physiology0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0012285HP:0012285Abnormal hypothalamus physiology0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0012285HP:0012285Abnormal hypothalamus physiology0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0012285HP:0012285Abnormal hypothalamus physiology0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0012285HP:0012285Abnormal hypothalamus physiology0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0012285HP:0012285Abnormal hypothalamus physiology0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0012285HP:0012285Abnormal hypothalamus physiology0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0012285HP:0012285Abnormal hypothalamus physiology0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0012285HP:0012285Abnormal hypothalamus physiology0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0012285HP:0012285Abnormal hypothalamus physiology0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0012285HP:0012285Abnormal hypothalamus physiology0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0012285HP:0012285Abnormal hypothalamus physiology0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0012285HP:0012285Abnormal hypothalamus physiology0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0012285HP:0012285Abnormal hypothalamus physiology0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0012285HP:0012285Abnormal hypothalamus physiology0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0012285HP:0012285Abnormal hypothalamus physiology0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0012285HP:0012285Abnormal hypothalamus physiology0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0012285HP:0012285Abnormal hypothalamus physiology0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0012285HP:0012285Abnormal hypothalamus physiology0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency5
HP:0012285HP:0012285Abnormal hypothalamus physiology0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0012285HP:0012285Abnormal hypothalamus physiology0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0012285HP:0012285Abnormal hypothalamus physiology0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0012285HP:0012285Abnormal hypothalamus physiology0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0012285HP:0012285Abnormal hypothalamus physiology0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0012285HP:0008237Hypothalamic hypothyroidism1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0012285HP:0008237Hypothalamic hypothyroidism1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0012285HP:0012287Hypothalamic luteinizing hormone-releasing hormone deficiency1LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0012285HP:0012287Hypothalamic luteinizing hormone-releasing hormone deficiency1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0012285HP:0008237Hypothalamic hypothyroidism1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0012285HP:0008237Hypothalamic hypothyroidism1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0012285HP:0008237Hypothalamic hypothyroidism1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0012285HP:0012287Hypothalamic luteinizing hormone-releasing hormone deficiency1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0012285HP:0008237Hypothalamic hypothyroidism1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0012285HP:0008237Hypothalamic hypothyroidism1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0012285HP:0008237Hypothalamic hypothyroidism1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0012285HP:0008237Hypothalamic hypothyroidism1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0012285HP:0008237Hypothalamic hypothyroidism1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0012285HP:0008237Hypothalamic hypothyroidism1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0012285HP:0008237Hypothalamic hypothyroidism1TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0012285HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10


Genes (53) :AKT1 ANOS1 BAP1 CCDC141 CDON CHD7 DCC DISP1 DLL1 DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FOXH1 GAS1 GLI2 HESX1 HS6ST1 IL17RD LHX3 MAGEL2 NDNF NF2 NODAL PDGFB PIK3CA PLCH1 PROK2 PROKR2 PTCH1 SEMA3A SHH SIM1 SIX3 SMARCB1 SMARCE1 SMC1A SMO SOX10 SPRY4 STAG2 STIL SUFU TACR3 TDGF1 TERT TGIF1 TRAF7 TRH WDR11 ZIC2

Diseases (12) :ORPHA:2495 OMIM:308700 ORPHA:478 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:231720 ORPHA:398069 OMIM:618841 ORPHA:398079 OMIM:275120
 

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