Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated genes and diseases:
gene_symbol: ANOS1
disease_id: OMIM:308700
disease_name: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: OMIM:618841
disease_name: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TRH
disease_id: OMIM:275120
disease_name: THYROTROPIN-RELEASING HORMONE DEFICIENCY
gene_symbol: FGFR1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: FGFR1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: DLL1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: DLL1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: DLL1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: DLL1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: STAG2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: STAG2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: FGF8
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: FGF8
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: FGF8
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: FGF8
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: SMC1A
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SIX3
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SIX3
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: SIX3
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: SIX3
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: TGIF1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: TGIF1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: TGIF1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: TGIF1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: NODAL
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: NODAL
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: NODAL
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: NODAL
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: SHH
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: SHH
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: ZIC2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: ZIC2
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: ZIC2
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: ZIC2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: STIL
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: STIL
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: STIL
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: STIL
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: GAS1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: GAS1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: GAS1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: GAS1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: DISP1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: DISP1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: DISP1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: DISP1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: GLI2
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: GLI2
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: GLI2
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: GLI2
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: FOXH1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: FOXH1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: FOXH1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: FOXH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: CRIPTO
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: PTCH1
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: PTCH1
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: PTCH1
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: PTCH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: CDON
disease_id: ORPHA:220386
disease_name: Semilobar holoprosencephaly
gene_symbol: CDON
disease_id: ORPHA:93926
disease_name: Midline interhemispheric variant of holoprosencephaly
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
gene_symbol: CDON
disease_id: ORPHA:93924
disease_name: Lobar holoprosencephaly
gene_symbol: CDON
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PLCH1
disease_id: ORPHA:93925
disease_name: Alobar holoprosencephaly
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: LHX3
disease_id: ORPHA:231720
disease_name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome