Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:616113 | Polyendocrine-Polyneuropathy syndrome | . | | | 3 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | | | | 166 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | | | | 5 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0011787 | HP:0011787 | Central hypothyroidism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 21 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 51 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 43 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 36 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 54 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0011787 | HP:0008237 | Hypothalamic hypothyroidism | 1 | TRH CL E G H | 7200 | 12298 | OMIM:275120 | Thyrotropin-Releasing hormone deficiency | . | | | 5 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0011787 | HP:0008245 | Pituitary hypothyroidism | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040281 - Very frequent | | | 9 | | |