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IntroductionBelow are entries from a search of the Online Mendelian Inheritance in Man database. Note that only the first 50 entries of each search are shown, to see complete list repeat search from here using search word. Clicking on the entry number will show the complete entry (see sample Heading List) and links to other databases (see Database List). |
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AdrenalSelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 198 entries found), searching for "adrenal"
*201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY *300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC #201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA *202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY *202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY *201810 ADRENAL HYPERPLASIA II *240200 HYPOADRENOCORTICISM, FAMILIAL 219080 CUSHING DISEASE, ADRENAL *184757 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1; FTZF1 *231550 ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL *202200 ADRENAL UNRESPONSIVENESS TO ACTH 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE *300250 ADRENAL UNRESPONSIVENESS TO ACTH 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST 201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES *193002 SOLUTE CARRIER FAMILY 18, MEMBER 1; SLC18A1 *307030 HYPERGLYCEROLEMIA *600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR *300100 ADRENOLEUKODYSTROPHY; ALD #130650 BECKWITH-WIEDEMANN SYNDROME; BWS *240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I *176830 PROOPIOMELANOCORTIN; POMC #103900 ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE *278000 WOLMAN DISEASE *175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC #306190 GONADOTROPIN DEFICIENCY; GTD #171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 *118910 CHROMOGRANIN A; CHGA *160980 CARNEY COMPLEX; CNC *138040 GLUCOCORTICOID RECEPTOR; GRL *300600 ALBINISM, OCULAR, TYPE II; OA2 *310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES *193300 VON HIPPEL-LINDAU SYNDROME; VHL *201400 ACTH DEFICIENCY *256700 NEUROBLASTOMA *271400 SPLENIC HYPOPLASIA *102981 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1 *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 #171300 PHEOCHROMOCYTOMA *139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2 *171190 PHENYLETHANOLAMINE N-METHYLTRANSFERASE; PNMT #184700 POLYCYSTIC OVARY SYNDROME 1; PCO1 *118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A 203400 ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE *176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO *107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19 #151623 LI-FRAUMENI SYNDROME; LFS *122560 CORTICOTROPIN-RELEASING HORMONE; CRH |
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PancreasSelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 287 entries found), searching for "pancreas"
167750 PANCREAS, ANNULAR #557000 PEARSON MARROW-PANCREAS SYNDROME #256450 NESIDIOBLASTOSIS OF PANCREAS *260400 PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS 208540 ASPLENIA WITH CYSTIC LIVER, KIDNEY AND PANCREAS 167755 PANCREAS, DORSAL, AGENESIS OF *603318 SOLUTE CARRIER FAMILY 4, SODIUM BICARBONATE COTRANSPORTER, MEMBER 5; SLC4A5 *114852 CARBOXYPEPTIDASE B1, TISSUE; CPB1 #219700 CYSTIC FIBROSIS; CF 600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE *106210 PAIRED BOX GENE 6; PAX6 *600733 INSULIN PROMOTER FACTOR 1; IPF1 #260370 PANCREATIC AGENESIS, CONGENITAL #260350 PANCREATIC CARCINOMA *243800 JOHANSON-BLIZZARD SYNDROME; JBS *176730 INSULIN; INS *600781 PEPTIDE YY; PYY *167413 PAIRED BOX GENE 4; PAX4 #530000 KEARNS-SAYRE SYNDROME; KSS *167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A *125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 *263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 *602977 GLYCOPROTEIN 2, ZYMOGEN GRANULE MEMBRANE; GP2 *601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1 *601405 CALDECRIN *602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 *602329 SUPPRESSOR OF LIN12-LIKE; SEL1L 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME *172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B 601346 GASTROINTESTINAL ABNORMALITIES, MULTIPLE *211890 CAMPOMELIA, CUMMING TYPE *147940 ISLET AMYLOID POLYPEPTIDE; IAPP *118910 CHROMOGRANIN A; CHGA *602844 RHO GDP-DISSOCIATION INHIBITOR GAMMA; ARHGDIG *601865 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2 *602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3 *600759 ALZHEIMER DISEASE, FAMILIAL, TYPE 4 *600509 SULFONYLUREA RECEPTOR; SUR *603743 APOLIPOPROTEIN L; APOL *130120 ELASTASE 1; ELA1 #167800 PANCREATITIS, HEREDITARY; PCTT *130130 ELASTASE 2; ELA2 #601820 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY *114850 CARBOXYPEPTIDASE A1; CPA1 *118888 CHYMOTRYPSIN-LIKE PROTEASE; CTRL *193300 VON HIPPEL-LINDAU SYNDROME; VHL *190070 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2 *125505 DEOXYRIBONUCLEASE I; DNASE1 |
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ParathyroidSelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 88 entries found), searching for "parathyroid"
*168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1 *168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH *168450 PARATHYROID HORMONE; PTH #145000 HYPERPARATHYROIDISM 1; HRPT1 *145001 HYPERPARATHYROIDISM 2; HRPT2 *601199 CALCIUM-SENSING RECEPTOR; CASR *168461 CYCLIN D1; CCND1 *118910 CHROMOGRANIN A; CHGA *307700 HYPOPARATHYROIDISM, X-LINKED; HYPX *601469 PARATHYROID HORMONE RECEPTOR 2; PTHR2 *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 #145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 #171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 300800 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO #146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH *601769 VITAMIN D RECEPTOR; VDR *188400 DIGEORGE SYNDROME; DGS *307800 HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS #239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT #103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO *127000 KENNY-CAFFEY SYNDROME, TYPE 2 *603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE #156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE 203330 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO *158070 MONOCLONAL ANTIBODY 4F2, ANTIGEN DEFINED BY; MDU1 *141900 HEMOGLOBIN--BETA LOCUS; HBB *264700 PSEUDOVITAMIN D DEFICIENCY RICKETS *600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 *602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG *176730 INSULIN; INS *102645 ACYLPEPTIDE HYDROLASE; APH #174800 MCCUNE-ALBRIGHT SYNDROME; MAS *241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD #162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B *164761 RET PROTOONCOGENE; RET *114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA 143880 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY *241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH *190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS *241400 HYPOPARATHYROIDISM 239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA *211900 CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA *146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA *150000 LACTATE DEHYDROGENASE-A; LDHA *139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1; GNAS1 *162200 NEUROFIBROMATOSIS, TYPE I; NF1 *182450 SOMATOSTATIN; SST #155240 MEDULLARY THYROID CARCINOMA, FAMILIAL; MTC1 #194050 WILLIAMS-BEUREN SYNDROME; WBS |
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PinealSelect Entries from Online Mendelian Inheritance in Man 23 entries found, searching for "pineal" #262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES *171490 PHOSDUCIN, PINEAL GLAND; PDC 273120 TERATOMA, PINEAL *300015 ACETYLSEROTONIN METHYLTRANSFERASE, X-CHROMOSOMAL; ASMT *600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT *147670 INSULIN RECEPTOR; INSR *180200 RETINOBLASTOMA; RB1 *176000 PORPHYRIA, ACUTE INTERMITTENT *603732 CRYPTOCHROME 2; CRY2 *601933 CRYPTOCHROME 1; CRY1 *181031 S-ANTIGEN; SAG *601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1 *601972 RAR-RELATED ORPHAN RECEPTOR B; RORB *165195 OPIOID RECEPTOR, DELTA-1; OPRD1 *600577 LIM HOMEO BOX PROTEIN 3; LHX3 *600665 MELATONIN RECEPTOR 1A; MTNR1A *600768 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 9; PTPN9 *180090 RETINALDEHYDE-BINDING PROTEIN 1,; RLBP1 *300162 ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL *602256 PROTEIN PHOSPHATASE, EF HAND CALCIUM-BINDING DOMAIN 2; PPEF2 *602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1 *402500 ACETYLSEROTONIN METHYLTRANSFERASE, Y-CHROMOSOMAL; ASMT *604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9 |
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PituitarySelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 206 entries found), searching for "pituitary" [See full list of Entries- OMIM Pituitary]
#262650 PITUITARY DWARFISM IV *602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 *173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 #145650 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION *139250 GROWTH HORMONE 1; GH1 *262600 PITUITARY DWARFISM III *601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2 *102981 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1 *173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1 #275100 THYROTROPIN DEFICIENCY, ISOLATED *600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B #173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT 219090 CUSHING DISEASE, PITUITARY *312000 PANHYPOPITUITARISM; PHP #262400 PITUITARY DWARFISM I 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA *102980 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1; ADCYAP1 #262500 PITUITARY DWARFISM II #188570 THYROID HORMONE RESISTANCE 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA *602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 *192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM *601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1 *139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1; GNAS1 *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 *190160 THYROID HORMONE RECEPTOR, BETA; THRB *102200 ACROMEGALY *192340 ARGININE VASOPRESSIN; AVP *600577 LIM HOMEO BOX PROTEIN 3; LHX3 *139190 GROWTH HORMONE-RELEASING HORMONE; GHRH *137035 GALANIN; GAL *139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR #182230 SEPTOOPTIC DYSPLASIA *601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR 602146 LIM HOMEO BOX PROTEIN 4 #174800 MCCUNE-ALBRIGHT SYNDROME; MAS *122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1 *601663 ESTROGEN RECEPTOR 2; ESR2 *176960 PROTEIN KINASE C, ALPHA; PRKCA *139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2 *600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A *308700 KALLMANN SYNDROME 1; KAL1 *160980 CARNEY COMPLEX; CNC *153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF *176830 PROOPIOMELANOCORTIN; POMC #145000 HYPERPARATHYROIDISM 1; HRPT1 227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPHIC *300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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ThymusSelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 174 entries found), searching for "thymus"
*188400 DIGEORGE SYNDROME; DGS *242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS *601520 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 17; SCYA17 *602565 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25 *171810 ALKALINE PHOSPHATASE, PLACENTAL-LIKE 2; ALPPL2 *188850 TL ANTIGEN *125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 #300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 *202500 SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1 *603570 VANIN 1; VNN1 *208900 ATAXIA-TELANGIECTASIA; AT *188390 PROTHYMOSIN, ALPHA; PTMA *118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3 122550 CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI *308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG *300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK *603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3 *603023 IKAROS *600838 WINGED HELIX NUDE; WHN *308240 LYMPHOPROLIFERATIVE SYNDROME *129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 *600182 SOLUTE CARRIER FAMILY 7, MEMBER 5; SLC7A5 *201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ *267500 RETICULAR DYSGENESIA *131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 *241400 HYPOPARATHYROIDISM 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM *159557 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2 *171800 ALKALINE PHOSPHATASE, PLACENTAL; ALPP *168440 PARATHYMOSIN; PTMS *313470 SURFACE ANTIGEN MIC2; MIC2 *603571 VANIN 2; VNN2 *250250 CARTILAGE-HAIR HYPOPLASIA; CHH *186720 CD6 ANTIGEN; CD6 *603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG *602617 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 15; FKHL15 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242800 IMMUNE DEFECT WITH LYMPHOTOXIC FACTOR *600058 PROTEIN TYROSINE KINASE TXK; TXK *602547 POLYSIALYLTRANSFERASE; PST *188380 THYMOPOIETIN; TMPO #145000 HYPERPARATHYROIDISM 1; HRPT1 *602469 FOLATE RECEPTOR 3; FOLR3 *142995 HOMEO BOX GENE HB24 *603775 CYCLIN E2; CCNE2 *228000 FARBER LIPOGRANULOMATOSIS 274260 THYMIC NEOPLASIA 274230 THYMOMA, FAMILIAL #205400 HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE 1; HDLDT1 *134637 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6 |
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ThyroidSelect Entries from Online Mendelian Inheritance in Man 50 entries displayed (out of 259 entries found), searching for "thyroid"
*190160
THYROID HORMONE RECEPTOR, BETA; THRB |
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About Notes
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m.hill@unsw.edu.au |