Tunglang Savage Bellman syndrome * Vohwinkel\'s mutilating keratoderma * Otospondylomegaepiphyseal dysplasia * Robinson\'s syndrome * Charcot-Marie-Tooth-Hoffmann syndrome, X-linked type 2 * Klippel-Feil syndrome * Fanconi anaemia * Blau syndrome * Typhus fever [checkorphan.org]

Tularemia Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Tungiasis Tunglang Savage Bellman syndrome Turcot syndrome Turner syndrome Twenty-nail dystrophy Twin twin transfusion syndrome Tylosis Type 1 plasminogen deficiency Typhoid fever [personalizedcause.com]

Syndromes Coma Gallbladder radionuclide scan Gaseous abdominal fullness Anaphylaxis (a rare but severe allergic reaction) Irregular vaginal bleeding Cataracts Multiple-sleep latency test Low blood pressure Look for the cause of a fever There are very [sarcomacancer.org]

congenital * Dyserythropoietic anemia, congenital type 1 * Dyserythropoietic anemia, congenital type 2 * Dyserythropoietic anemia, congenital type 3 * Dysesthetic Vulvodynia * Dysferlinopathy * Dysfibrinogenemia, familial * Dysgerminoma * Dysgnathia [medicalgeek.com]

[…] degeneration symmetrical infantile Thalamic degeneration symmetric infantile Thalassemia Thanatophoric dysplasia Glasgow variant Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Theodor Hertz Goodman syndrome Thiamine responsive megaloblastic anemia [personalizedcause.com]

1 45 283 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 38 284 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 36 285 CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 32 [malacards.org]

Begin the physical examination by inspecting the external ear for inflammation, boils, foreign bodies, and discharge. Then apply pressure to the tragus and mastoid to elicit tenderness. [checkorphan.org]

Mucositis Inflammation and irritation of the fragile membranes throughout the gastrointestinal tract. You are considered to be neutropenic when your neutrophil count is less than 1000. [devnet.de]

Question Mark Ears, Isolated 20 127 c DFN333 Deafness, Autosomal Dominant 73 19 128 c DFN382 Deafness, Autosomal Dominant 76 18 129 c USH037 Usher Syndrome, Type Iia 50 130 SYS006 Say Syndrome 27 131 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation [malacards.org]

Does the patient have ear pain? If so, is it unilateral or bilateral, or continuous or intermittent? Ask the patient if he has noticed discharge from one or both ears. If so, have him describe its color and consistency, and note when it began. [checkorphan.org]

[…] type 2 * Klippel-Feil syndrome * Fanconi anaemia * Blau syndrome * Typhus fever * Mucosulfatidosis * Upper respiratory tract infection * Glomus jugulare tumor * Down syndrome * ABCD syndrome * Iduronate sulphatase deficiency * Rickettsiae * Neonatal jaundice [checkorphan.org]

Cholestasis, intrahepatic of pregnancy * Cholestasis, progressive familial intrahepatic 1 * Cholestasis, progressive familial intrahepatic 2 * Cholestasis, progressive familial intrahepatic 3 * Cholestasis, progressive familial intrahepatic 4 * Cholestatic jaundice [medicalgeek.com]

jaundice * Biotinidase deficiency * Athabaskan brain stem dysgenesis * Johanson-Blizzard syndrome * Basilar artery migraine * Wegener\'s granulomatosis * Multiple lentigines syndrome * I-cell disease * Galactosamine-6-sulfatase deficiency * Head injury [checkorphan.org]

Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti-Tl Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [bioreference.net]

Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti–Tn Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [ipfs.io]

[…] cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti–Tn [ edit ] Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [en.wikipedia.org]

Human phenotypes related to Tunglang Savage Bellman Syndrome: 59 32 # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407 2 hyponatremia 59 32 hallmark [malacards.org]

The complications of Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome may include: Severe loss of hearing Depression Withdrawal from society, due to hearing problems Coma, resulting from untreated hyponatremia Complications may [dovemed.com]

Does he experience dizziness? If so, when did he first notice it? Begin the physical examination by inspecting the external ear for inflammation, boils, foreign bodies, and discharge. [checkorphan.org]

The signs and symptoms of Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome may include the following: Low levels of sodium in blood, which can cause: Headaches Nausea Dizziness, confusion Weakness, fatigue Elevated plasma aldosterone [dovemed.com]

Diseases Nervous System Diseases Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Tunglang Savage Bellman syndrome 4. [ctdbase.org]

Diseases Nervous System Diseases Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Tunglang Savage Bellman syndrome 4. [ctdbase.org]

386 c LNG057 Long Qt Syndrome 13 39 387 c LNG046 Long Qt Syndrome 11 39 388 c NNN021 Noonan Syndrome 8 39 389 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 38 390 c NNN009 Noonan Syndrome 2 38 391 TYM001 Tympanosclerosis 36 392 PRP028 Peripheral Vertigo [malacards.org]

Human phenotypes related to Tunglang Savage Bellman Syndrome: 59 32 # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407 2 hyponatremia 59 32 hallmark [malacards.org]

Last updated May 29, 2018 Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. [dovemed.com]

[…] aldosterone syndrome Disease definition Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia [orpha.net]

Article contents Abstract References Abstract Two male siblings presented in infancy with hyponatremia. The levels of plasma renin activity and aldosterone were elevated. Sodium supplement was necessary to maintain normal sodium balance. [cambridge.org]

Hyponatremia associated with natriuresis but without hypokalemia was noted and was treated with NaCl supplementation. Serum mag- nesium was elevated transiently. Plasma renin activity and aldosterone levels were markedly elevated (Table 11). [fdocuments.in]