Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Small pituitary gland, 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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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Isolated Growth Hormone Deficiency, Type Iv |
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Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
Isolated Growth Hormone Deficiency, Type Ii |
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Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
Pituitary Hormone Deficiency, Combined, 3 |
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Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
X-Linked Acrogigantism |
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Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Non-Acquired Isolated Growth Hormone Deficiency |
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Anterior hypopituitarism, Short stature |
ORPHA:631 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Craniopharyngioma |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Panhypopituitarism, X-Linked |
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Pituitary dwarfism, Panhypopituitarism |
OMIM:312000 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Hypothyroidism, Short stature, Decreased response to growth hormone stimulation test, Panhypopitu... |
OMIM:300123 |
Pituicytoma |
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Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Short stature, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612702 |
Septooptic Dysplasia |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:182230 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
Panhypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Pituitary Adenoma 1, Multiple Types |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Adenohypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
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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Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Meningioma |
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Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Small pituitary gland |
OMIM:617395 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Cog2-Cdg |
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Small pituitary gland |
ORPHA:435934 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... |
OMIM:616113 |
Culler-Jones Syndrome |
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Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... |
OMIM:615849 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Polyendocrine-Polyneuropathy Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Short stature, Anterior pituitary hypoplasia, Decre... |
ORPHA:157954 |
Joubert Syndrome 38 |
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Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Non-Acquired Panhypopituitarism |
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Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm... |
ORPHA:90695 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Webb-Dattani Syndrome |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Small pituitary gland |
OMIM:614195 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Sim1-Related Prader-Willi-Like Syndrome |
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Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Absence of... |
ORPHA:398079 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
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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Cryptorchidism, Abnormal social behavior, Short stature, Small pituitary gland |
ORPHA:93932 |
Immunodeficiency 54 |
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Short stature, Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
Gangliocytoma |
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Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Septo-Optic Dysplasia Spectrum |
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Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormality of t... |
ORPHA:3157 |
Hydranencephaly |
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Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Prader-Willi Syndrome |
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Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... |
ORPHA:95494 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... |
ORPHA:75389 |
Giant Axonal Neuropathy |
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Abnormal pituitary gland morphology |
ORPHA:643 |
Magel2-Related Prader-Willi-Like Syndrome |
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Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Absence of pubertal develo... |
ORPHA:398069 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Pituitary dwarfism, Ectopic posterior pituitary, Hyp... |
ORPHA:226307 |
Isolated Exencephaly |
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Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98754 |
Prolactinoma |
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Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98793 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Igg4-Related Thyroid Disease |
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Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177901 |
Acromelic Frontonasal Dysplasia |
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Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Small pituitary gland, Disproportionate short-limb short stature |
OMIM:619479 |
Microphthalmia, Syndromic 3 |
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Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... |
OMIM:206900 |
Prader-Willi Syndrome Due To Translocation |
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Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177907 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... |
OMIM:613457 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
Holoprosencephaly 9 |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
14Q22Q23 Microdeletion Syndrome |
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Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Deeah Syndrome |
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Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature |
ORPHA:314621 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Intrauterine growth retardation, Br... |
ORPHA:464306 |
Lenz-Majewski Hyperostotic Dwarfism |
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Intrauterine growth retardation, Short stature, Anterior pituitary hypoplasia, Cryptorchidism |
OMIM:151050 |
Pseudohypoparathyroidism Type 1B |
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Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, E... |
ORPHA:94089 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Anterior pituitary hypoplasia, Supernumerary nipple, Shyness, Bilateral cryptorchidism, Cryptorch... |
ORPHA:466791 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy... |
OMIM:619503 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H... |
OMIM:181450 |
Pseudohypoparathyroidism Type 1C |
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Short stature, Decreased response to growth hormone stimulation test, Reduced circulating prolact... |
ORPHA:79444 |
Autoimmune Polyendocrinopathy Type 3 |
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Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... |
ORPHA:227982 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Intrauterine growth retardation, Short stature, Anterior pituitary hypoplasia, Cryptorchidism |
OMIM:619841 |
Autoimmune Polyendocrinopathy Type 4 |
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Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... |
ORPHA:227990 |
Pseudohypoparathyroidism Type 1A |
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Short stature, Decreased response to growth hormone stimulation test, Reduced circulating prolact... |
ORPHA:79443 |
Igg4-Related Ophthalmic Disease |
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Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadenitis |
ORPHA:449563 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Bile duct proliferation, Short stature, Anterior pituitary hypoplasia, Diabetes insipidus |
OMIM:619534 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormali... |
ORPHA:438213 |
Igg4-Related Kidney Disease |
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Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis |
ORPHA:449395 |