Select Entries from OMIM -- Online Mendelian Inheritance in Man

212 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 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1
*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
201750 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES
129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST
*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
*131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
*176830 PROOPIOMELANOCORTIN; POMC
*278000 WOLMAN DISEASE
#103900 ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE
*175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
#306190 GONADOTROPIN DEFICIENCY; GTD
#171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
*138040 GLUCOCORTICOID RECEPTOR; GCCR
*118910 CHROMOGRANIN A; CHGA
*160980 CARNEY COMPLEX; CNC
*193300 VON HIPPEL-LINDAU SYNDROME; VHL
*300600 ALBINISM, OCULAR, TYPE II; OA2
*201400 ACTH DEFICIENCY
*310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
*256700 NEUROBLASTOMA
*271400 SPLENIC HYPOPLASIA
*118485 CYTOCHROME P450, SUBFAMILY XIA; CYP11A
*176860 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
#171300 PHEOCHROMOCYTOMA
*139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2
*171190 PHENYLETHANOLAMINE N-METHYLTRANSFERASE; PNMT
203400 ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE
#184700 POLYCYSTIC OVARY SYNDROME 1; PCO1
*107910 CYTOCHROME P450, SUBFAMILY XIX; CYP19
604287 CARNEY TRIAD
*102981 ADENYLATE CYCLASE ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1
#151623 LI-FRAUMENI SYNDROME; LFS
*122560 CORTICOTROPIN-RELEASING HORMONE; CRH
*137240 GASTRIC INHIBITORY POLYPEPTIDE; GIP
*600985 TENASCIN-XB2; TNXB2
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
269200 SCHMIDT SYNDROME
*179820 RENIN; REN
*249100 MEDITERRANEAN FEVER, FAMILIAL; MEFV
*162200 NEUROFIBROMATOSIS, TYPE I; NF1
*106165 ANGIOTENSIN RECEPTOR 1; AGTR1
*107680 APOLIPOPROTEIN A-I OF HIGH DENSITY LIPOPROTEIN; APOA1
#268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME
*600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C
*600261 TENASCIN-XA; TNXA
*147380 INHIBIN, ALPHA; INHA
115310 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS
#202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
307300 HYPOGONADISM, MALE
*124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2
*103260 ADRENODOXIN; ADX
*176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1
171350 PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL
300270 ADRENOMYODYSTROPHY
*147470 INSULIN-LIKE GROWTH FACTOR II; IGF2
*256550 NEURAMINIDASE DEFICIENCY
*601599 SARCOSPAN; SSPN
*109715 3-@BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE I
*109610 BENZODIAZEPINE RECEPTOR, PERIPHERAL TYPE; BZRP
200440 ACHALASIA-ALACRIMIA SYNDROME
*102642 STEROL O-ACYLTRANSFERASE; SOAT
*122559 CORTICOTROPIN RELEASING HORMONE-BINDING PROTEIN; CRHBP
*218030 CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
*192340 ARGININE VASOPRESSIN; AVP
*171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1
*169500 PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE
*164761 RET PROTOONCOGENE; RET
*145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
*137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR
*147670 INSULIN RECEPTOR; INSR
*155600 MELANOMA, CUTANEOUS MALIGNANT; CMM
187360 TEMPORAL ARTERITIS
*187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY
*102700 ADENOSINE DEAMINASE; ADA
*162150 PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 1; PCSK1
#174800 MCCUNE-ALBRIGHT SYNDROME; MAS
*107930 AROMATIC L-AMINO ACID DECARBOXYLASE; AADC
*107741 APOLIPOPROTEIN E; APOE
*155541 MELANOCORTIN 4 RECEPTOR; MC4R
*133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1
*139320 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1; GNAS1
*125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1
*151750 LIPASE, HORMONE-SENSITIVE; LIPE
#101400 SAETHRE-CHOTZEN SYNDROME; SCS
#264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
#262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
250220 METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL
*604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1
*603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10; OB10
278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS
*601538 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1
*601157 DEFENSIN, ALPHA, 4; DEFA4
202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT
#202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
248000 MACROCEPHALY
*208150 PENA-SHOKEIR SYNDROME, TYPE I
*601313 POLYCYSTIC KIDNEY DISEASE 1; PKD1
#300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS
#600955 ENDOCRINOPATHY, MULTIPLE, DUE TO IMPAIRED PROCESSING OF PROHORMONES
*600277 INHIBITOR OF DNA BINDING 3; ID3
*264300 PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
*604240 HOMEO BOX 11-LIKE 1; HOX11L1
*236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1
*300157 FATTY ACID COENZYME A LIGASE, LONG-CHAIN 4; FACL4
*600713 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1
#176410 PRECOCIOUS PUBERTY, MALE-LIMITED
235000 HEMIHYPERTROPHY
235360 HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA
*236200 HOMOCYSTINURIA
*163970 SOLUTE CARRIER FAMILY 6, MEMBER 2; SLC6A2
*160900 DYSTROPHIA MYOTONICA
#177720 PSEUDOHYPERKALEMIA, FAMILIAL, DUE TO RED CELL LEAK
*227400 FACTOR V DEFICIENCY
*250790 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
*251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME
*158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY
156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A
*261515 PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
*194070 WILMS TUMOR 1; WT1
215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
*223360 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH
#176500 FAMILIAL BRITISH DEMENTIA; FBD
*216550 COHEN SYNDROME; COH1
#265800 PYCNODYSOSTOSIS
*176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1
#177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
*249000 MECKEL SYNDROME, TYPE 1; MKS1
*147620 INTERLEUKIN 6; IL6
*147370 INSULIN-LIKE GROWTH FACTOR 1 RECEPTOR; IGF1R
#274300 THYROID HORMONE UNRESPONSIVENESS
#182230 SEPTOOPTIC DYSPLASIA
*182451 SOMATOSTATIN RECEPTOR 1; SSTR1
*158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1
*300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2
184850 STIFF MAN SYNDROME, HEREDITARY FORM OF
188580 THYROTOXIC PERIODIC PARALYSIS
*191290 TYROSINE HYDROXYLASE; TH
*141900 HEMOGLOBIN--BETA LOCUS; HBB
*262600 PITUITARY DWARFISM III
*138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1
*131330 PROENKEPHALIN; PENK
*122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1
*306955 HETEROTAXY, VISCERAL, X-LINKED
*120325 COLLAGEN, TYPE XV, ALPHA-1; COL15A1
*118930 SECRETOGRANIN II; SCG2
*308700 KALLMANN SYNDROME 1; KAL1
#309530 MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1
*118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP
*312173 RIBOSOMAL PROTEIN L10; RPL10
#313900 THROMBOCYTOPENIA 1; THC1
*600019 CYTOCHROME b561; CYB561
*600043 SULFOTRANSFERASE, ESTROGEN-PREFERRING; STE
*113730 UNCOUPLING PROTEIN 1; UCP1
*155540 MELANOCORTIN 3 RECEPTOR; MC3R
*600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2
*600418 AMPHIPHYSIN; AMPH
*600541 ETS VARIANT GENE 1; ETV1
*600577 LIM HOMEO BOX GENE 3
*108962 NATRIURETIC PEPTIDE RECEPTOR C; NPR3
*264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
*108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1
*155555 MELANOCORTIN 1 RECEPTOR; MC1R
106160 ANGIOTENSIN II BINDING PROTEIN
*601040 CD36 ANTIGEN-LIKE 1; CD36L1
*601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2
*200400 ACHALASIA, FAMILIAL ESOPHAGEAL
*269700 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL
*601516 ZINC FINGER PROTEIN 162; ZNF162
#145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
#105200 AMYLOIDOSIS, FAMILIAL VISCERAL
*601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2
*602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR
*602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP
*602753 ARISTALESS HOMEO BOX, DROSOPHILA, HOMOLOG OF; ARIX
*602853 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, R; PTPRR
*602899 MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13
*602942 NEUROBLASTOMA STAGE 4S GENE
*300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1
*603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A
*603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3
603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix
*603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11
*603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4
#603903 SICKLE CELL ANEMIA
#145500 HYPERTENSION, ESSENTIAL
*604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1
*138945 GRANULIN; GRN
*103275 ADRENOMEDULLIN; ADM
*604476 GLIOBLASTOMA OVEREXPRESSED; GOV
*604564 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3
*604583 PROGRAMMED CELL DEATH 5; PDCD5
*604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2
*604667 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS