Hereditary diseases
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Disposition to infections
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Genetic alterations of drug tolerance
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Hereditary broncho-pulmonary disease
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Hereditary cardiac disease
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Hereditary dermatological disorders
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Hereditary diseases of the hematopoetic system and coagulopathies
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Hereditary endocrinological diseases
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Autoimmune polyendokrinopathy
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Autoimmune polyendocrinopathy syndrome 1
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AIRE
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Autoimmune polyendocrinopathy syndrome 2
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Autoimmune polyendocrinopathy syndrome 3
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Autoimmune polyendocrinopathy syndrome 4
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X-linked immunodysregulation, polyendocrinopathy, and enteropathy
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FOXP3
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Disorder of the thyroid hormon system
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Dysalbuminemic hyperthyroxinemia
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ALB
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Hyperthyroidism
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Familial gestational hyperthyroidism
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TSHR
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Graves disease
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GC
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McCune-Albright syndrom
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GNAS
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Non-autoimmune hyperthyroidism
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TSHR
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Susceptibility to thyrotoxic periodic paralysis 1
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CACNA1S
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Hypothyroidism
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Bamforth-Lazarus syndrome
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FOXE1
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Central hypothyroidism
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Central hypothyroidism and testicular enlargement
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IGSF1
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Generalized thyrotropin-releasing hormone resistance
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TRHR
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Thyrotropin-releasing hormone deficiency
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TRH
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Choreoathetosis with hypothyroidism and neonatal respiratory distress
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NKX2-1
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Congenital nongoitrous hypothyroidism
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Congenital nongoitrous hypothyroidism 1
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TSHR
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Congenital nongoitrous hypothyroidism 2
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PAX8
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Congenital nongoitrous hypothyroidism 3
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Congenital nongoitrous hypothyroidism 4
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TSHB
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Congenital nongoitrous hypothyroidism 5
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NKX2-5
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Congenital nongoitrous hypothyroidism 6
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THRA
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Neonatal diabetes mellitus with congenital hypothyroidism
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GLIS3
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Thyroid dyshormonogenesis
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Pendred syndrome
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SLC26A4
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Thyroid dyshormonogenesis 1
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SLC5A5
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Thyroid dyshormonogenesis 2a
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TPO
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Thyroid dyshormonogenesis 3
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TG
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Thyroid dyshormonogenesis 4
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IYD
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Thyroid dyshormonogenesis 5
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DUOXA2
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Thyroid dyshormonogenesis 6
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DUOX2
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Susceptibility to autoimmune thyroid disease
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Graves disease
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GC
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Susceptibility to autoimmune thyroid disease 1
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Susceptibility to autoimmune thyroid disease 2
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Susceptibility to autoimmune thyroid disease 3
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TG
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ZFAT
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Susceptibility to autoimmune thyroid disease 4
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Susceptibility to autoimmune thyroid disease 5
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Thyroid cancer
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Familial medullary thyroid cancer
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NTRK1
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RET
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Non-medullary thyroid cancer
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Familial follicular thyroid carcinoma
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MINPP1
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Follicular thyroid carcinoma
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HRAS
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NRAS
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Hyperfunctioning thyroid adenoma
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TSHR
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Non-medullary thyroid cancer 2
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SRGAP1
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Non-medullary thyroid cancer 3
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Non-medullary thyroid cancer 4
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NKX2-1
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Non-medullary thyroid cancer 4
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FOXE1
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Non-medullary thyroid cancer 5
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HABP2
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Thyroid carcinoma with thyrotoxicosis
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TSHR
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Thyroid hormone resistance
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Abnormal thyroid hormone metabolism
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SECISBP2
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Allan-Herndon-Dudley syndrome
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SLC16A2
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RXRA
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Thyroid hormone resistance, generalized, autosomal dominant
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THRA
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THRB
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Thyroid hormone resistance, generalized, autosomal recessive
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THRB
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Thyroid hormone resistance, selective pituitary
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THRB
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Disorders of sex development
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Congenital hypogonadotropic hypogonadism with anosmia 1
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ANOS1
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Congenital hypogonadotropic hypogonadism without anosmia 4
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PROK2
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Congenital hypogonadotropic hypogonadism without anosmia 5
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CHD7
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Denys-Drash syndrome
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WT1
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Hypogonadotropic hypogonadism 6 with or without anosmia
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FGF8
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Müllerian aplasia and hyperandrogenism
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WNT4
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SERKAL syndrome
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WNT4
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Disorders of the growth control system
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ADAMTSL3
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Combined pituitary hormone deficiency
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Pituitary hormone deficiency type 1
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POU1F1
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Pituitary hormone deficiency type 2
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PROP1
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Pituitary hormone deficiency type 3
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LHX3
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Pituitary hormone deficiency type 4
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LHX4
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Pituitary hormone deficiency type 5
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HESX1
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Growth hormone deficiency
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GH1
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Growth hormone secretagogue resistance
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GHSR
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Isolated growth hormone deficiency type 1A
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GH1
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Isolated growth hormone deficiency type 1B
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GH1
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GHRH
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GHRHR
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Isolated growth hormone deficiency type 2
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GH1
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Isolated growth hormone deficiency type 3
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BTK
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Kowarski syndrome
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GH1
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Growth hormone hypersensitivity
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GHR
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Growth hormone insensitivity
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Growth hormone insensitivity with immunodeficiency
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STAT5B
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IGFBP3
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Insulin-like growth factor 1 deficiency
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IGF1
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Insulin-like growth factor 1 resistance
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IGF1R
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Insulin-like growth factor 1 transport protein deficiency
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IGFALS
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Laron syndrome
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GHR
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SH2B1
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Disorders of the parathyroid hormone system
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Humoral hypercalcemia of malignancy
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PTHLH
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Hyperparathyroidism
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AP2S1
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CASR
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CDC73
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Familial Isolated Hyperparathyroidism
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GCM2
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GNA11
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Hypoparathyroidism
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AP2S1
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CASR
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GCM2
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GNA11
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Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
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GATA3
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Hypoparathyroidism-retardation-dysmorphism syndrome
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TBCE
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Kenny-Caffey syndrome
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TBCE
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PTH
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Parathyroid adenoma
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MEN1
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Parathyroid carcinoma
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CDC73
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Pseudohyperparathyreoidism
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Metaphyseal chondrodysplasia of Murk Jansen type
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PTH1R
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Pseudohypoparathyroidism
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Albright hereditary osteodystrophy
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GNAS
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Pseudohypoparathyroidism type IB
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GNAS
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GNAS-AS1
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STX16
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Genetic adrenal disease
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Adrenal adenoma
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MEN1
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Disorder of the aldosterone system
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Hyperaldosteronism
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Conn syndrome
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ATP1A1
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ATP2B3
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CACNA1D
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CACNA1H
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CTNNB1
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KCNJ5
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Glucocorticoid triggered hypertension
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NR3C1
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Hyperaldosteronism type 1
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CYP11B1
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CYP11B2
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Hyperaldosteronism type 2
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CLCN2
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Hyperaldosteronism type 3
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KCNJ5
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Hyperaldosteronism type 4
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CACNA1D
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CACNA1H
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Hypoaldosteronism
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CYP11B2
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Pseudohyperaldosteronism
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Apparent mineralocorticoid excess
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HSD11B2
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Liddle syndrome
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NEDD4
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NEDD4L
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NR3C2
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OXSR1
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SCNN1B
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SCNN1G
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STK39
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Pregnancy exacerbated hypertension
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NR3C2
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Pseudohypoaldosteronism
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Pseudohypoaldosteronism type 2
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CUL3
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KLHL3
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WNK1
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WNK4
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Pseudohypoaldosteronism type1
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NR3C2
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SCNN1A
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SCNN1B
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SCNN1G
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Disorders of the glucocorticoid hormone system
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ACTH-independent macronodular adrenal hyperplasia 1
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GNAS
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ACTH-independent macronodular adrenal hyperplasia 2
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ARMC5
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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
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CYP17A1
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Disorder of the aldosterone system
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Hyperaldosteronism
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Conn syndrome
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ATP1A1
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ATP2B3
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CACNA1D
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CACNA1H
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CTNNB1
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KCNJ5
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Glucocorticoid triggered hypertension
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NR3C1
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Hyperaldosteronism type 1
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CYP11B1
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CYP11B2
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Hyperaldosteronism type 2
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CLCN2
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Hyperaldosteronism type 3
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KCNJ5
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Hyperaldosteronism type 4
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CACNA1D
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CACNA1H
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Hypoaldosteronism
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CYP11B2
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Pseudohyperaldosteronism
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Apparent mineralocorticoid excess
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HSD11B2
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Liddle syndrome
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NEDD4
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NEDD4L
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NR3C2
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OXSR1
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SCNN1B
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SCNN1G
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STK39
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Pregnancy exacerbated hypertension
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NR3C2
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Pseudohypoaldosteronism
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Pseudohypoaldosteronism type 2
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CUL3
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KLHL3
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WNK1
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WNK4
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Pseudohypoaldosteronism type1
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NR3C2
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SCNN1A
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SCNN1B
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SCNN1G
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Disordered steroidogenesis due to POR deficiency
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POR
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Glucocorticoid resistance
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NR3C1
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Obesity, adrenal insufficiency, and red hair due to POMC deficiency
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POMC
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Pheochromocytoma
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GDNF
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KIF1B
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MAX
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OCLN
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RET
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SDHB
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SDHD
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TMEM127
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VHL
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Genetic disorders of pituitary gland
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Genetic adenohypophyseal disorders
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Congenital isolated ACTH deficiency
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TBX19
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Genetic neurohypophyseal disorders
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Hereditary diabetes insipidus
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Central diabetes insipidus
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AVP
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Nephrogenic diabetes insipidus
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AQP2
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AVPR2
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Wolfram syndrome
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Diabetes insipidus and mellitus with optic atrophy and deafness
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Wolfram syndrome 1
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WFS1
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Wolfram syndrome 2
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CISD2
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Hereditary dsorders of the pituitary gland
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Combined pituitary hormone deficiency
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Pituitary hormone deficiency type 1
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POU1F1
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Pituitary hormone deficiency type 2
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PROP1
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Pituitary hormone deficiency type 3
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|
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LHX3
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Pituitary hormone deficiency type 4
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LHX4
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|
|
|
Pituitary hormone deficiency type 5
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HESX1
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Familial and sporadic pituitary adenomas
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CDH23
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Kidney disease appearing as endocrinological disorders
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Liddle syndrome
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NEDD4
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NEDD4L
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|
|
NR3C2
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|
OXSR1
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SCNN1B
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|
SCNN1G
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|
|
|
|
STK39
|
|
|
|
Nephrogenic diabetes insipidus
|
|
|
|
|
AQP2
|
|
|
|
|
AVPR2
|
|
|
|
Pseudohypoaldosteronism
|
|
|
|
|
Pseudohypoaldosteronism type 2
|
|
|
|
|
|
CUL3
|
|
|
|
|
|
KLHL3
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|
|
|
WNK1
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|
|
|
|
|
WNK4
|
|
|
|
|
Pseudohypoaldosteronism type1
|
|
|
|
|
|
NR3C2
|
|
|
|
|
|
SCNN1A
|
|
|
|
|
|
SCNN1B
|
|
|
|
|
|
SCNN1G
|
|
|
|
Pseudohypoparathyroidism
|
|
|
|
|
Albright hereditary osteodystrophy
|
|
|
|
|
|
GNAS
|
|
|
|
|
Pseudohypoparathyroidism type IB
|
|
|
|
|
|
GNAS
|
|
|
|
|
|
GNAS-AS1
|
|
|
|
|
|
STX16
|
|
|
Multiple endocrine neoplasia 1
|
|
|
|
MEN1
|
|
Hereditary immunological disorders
|
|
Hereditary kidney diseases
|
|
Hereditary liver disease
|
|
Hereditary malformations
|
|
Hereditary metabolic diseases
|
|
Hereditary musculoskeletal diseases
|
|
Hereditary neurological disorders
|
|
Hereditary ocular disease and visual impairment
|
|
Hereditary otorhinolaryngological disorders
|
|
Hereditary pancreatic disease
|
|
Hereditary tumors
|
|
Hereditary vascular disease
|
|
Hypertension
|
|
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|
|
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