Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
Pituitary Adenoma 5, Multiple Types |
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Pituitary adenoma |
OMIM:617540 |
Pituitary Carcinoma |
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Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
Isolated Growth Hormone Deficiency, Type Iv |
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Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... |
OMIM:618157 |
Isolated Growth Hormone Deficiency, Type Ii |
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Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... |
OMIM:173100 |
Pituitary Hormone Deficiency, Combined, 3 |
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Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... |
OMIM:221750 |
X-Linked Acrogigantism |
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Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Pituitary Dermoid And Epidermoid Cysts |
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Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... |
OMIM:618160 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Craniopharyngioma |
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Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Postn... |
ORPHA:54595 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism, Pituitary dwarfism |
OMIM:312000 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... |
OMIM:300123 |
Pituicytoma |
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Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... |
OMIM:612079 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
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Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism |
OMIM:612702 |
Septooptic Dysplasia |
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Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... |
OMIM:182230 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Small pituitary gland, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Panhypophysitis |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
Adenohypophysitis |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Tsh-Secreting Pituitary Adenoma |
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Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:91347 |
Developmental And Epileptic Encephalopathy 108 |
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Small pituitary gland |
OMIM:620115 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... |
ORPHA:67045 |
Meningioma |
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Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Small pituitary gland |
OMIM:617395 |
Ziegler-Huang Syndrome |
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Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... |
OMIM:620501 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Cog2-Cdg |
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Small pituitary gland |
ORPHA:435934 |
Polyendocrine-Polyneuropathy Syndrome |
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Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
Culler-Jones Syndrome |
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Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... |
OMIM:613038 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
Ane Syndrome |
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Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
Joubert Syndrome 38 |
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Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... |
OMIM:619476 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t... |
ORPHA:90695 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Sheehan Syndrome |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Webb-Dattani Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon... |
OMIM:615926 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Small pituitary gland |
OMIM:614195 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... |
ORPHA:2232 |
Sim1-Related Prader-Willi-Like Syndrome |
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Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... |
ORPHA:398079 |
Non-Functioning Pituitary Adenoma |
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Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
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Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Fg Syndrome Type 1 |
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Small pituitary gland, Short stature, Cryptorchidism, Abnormal social behavior |
ORPHA:93932 |
Pituitary Hormone Deficiency, Combined, 6 |
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Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Hydranencephaly |
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Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ... |
ORPHA:2177 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
Immunodeficiency 54 |
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Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retardation, Adrenocorti... |
OMIM:609981 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:293978 |
Gangliocytoma |
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Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
Septo-Optic Dysplasia Spectrum |
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Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Diabetes insipid... |
ORPHA:3157 |
Prader-Willi Syndrome |
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Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Growth delay, Hypopituitarism, Decreased circulating T4 concentratio... |
ORPHA:226307 |
Insulin-Like Growth Factor I Deficiency |
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Postnatal growth retardation, Intrauterine growth retardation, Decreased serum insulin-like growt... |
OMIM:608747 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Short stature, Intrauterine growth retardation, Abnormality of the anterior pituitary, Posterior ... |
ORPHA:75389 |
Magel2-Related Prader-Willi-Like Syndrome |
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Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber... |
ORPHA:398069 |
Giant Axonal Neuropathy |
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Abnormal pituitary gland morphology |
ORPHA:643 |
Isolated Exencephaly |
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Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia |
ORPHA:563612 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98754 |
Igg4-Related Thyroid Disease |
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Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177901 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
Acromelic Frontonasal Dysplasia |
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Hypopituitarism, Cryptorchidism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Prolactinoma |
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Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Small pituitary gland, Disproportionate short-limb short stature |
OMIM:619479 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Cryptor... |
OMIM:613457 |
Microphthalmia, Syndromic 3 |
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Postnatal growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamarto... |
OMIM:206900 |
Prader-Willi Syndrome Due To Translocation |
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Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Reduced s... |
ORPHA:177907 |
Pseudohypoparathyroidism Type 1B |
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Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:94089 |
Deeah Syndrome |
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Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re... |
OMIM:619004 |
14Q22Q23 Microdeletion Syndrome |
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Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Short stature, Diabetes insipi... |
ORPHA:264200 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Short stature, Abnormal pituitary gland morphology |
ORPHA:314621 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia... |
ORPHA:464306 |
Lenz-Majewski Hyperostotic Dwarfism |
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Short stature, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
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Ectopic anterior pituitary gland |
OMIM:620558 |
Holoprosencephaly 9 |
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Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed puberty, Excessive shynes... |
ORPHA:466791 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Small pituitary gland, Thyroid hypoplasia,... |
OMIM:619503 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n... |
OMIM:181450 |
Pseudohypoparathyroidism Type 1C |
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Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Short stature, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:619841 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Type I diabetes mellitus, Graves disease, Anterior pituitary dysgenesis, Autoimmune hypo... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Type I diabetes mellitus, Anterior pituitary dysgenesis, Central diabetes insipidus, Hyp... |
ORPHA:227990 |
Pseudohypoparathyroidism Type 1A |
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Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79443 |
Igg4-Related Ophthalmic Disease |
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Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis |
ORPHA:449563 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Short stature, Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia |
OMIM:619534 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Hypothyroidism... |
ORPHA:438213 |
Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis |
ORPHA:449395 |