[…] and (b) at least 2 of the following conditions: progressive external ophthalmoplegia, ptosis, polyneuropathy, leukoencephalopathy assessed by pathology or imaging, or familial history, and (c) no other known cause of CIPO (such as: systemic sclerosis, amyloidosis [em-consulte.com]

Infiltrative diseases of liver like amyloidosis. Myeloproliferative Disorders: CML, Myelofibrosis. [kumc.edu]

Intestinal Pseudo-obstruction Approved renewal hypromellose 0.3%, dextran 70 0.1% conjunctivitis sicca, dry eyes, keratitis Approved hypromellose 0.3%, dextran 70 0.1% sjogrens syndrome, conjunctivitis sicca, dry eyes, keratitis Approved renewal ibrutinib AL amyloidosis [pharmac.govt.nz]

fingers or toes 0001156 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Short palm 0004279 Percent of people who have these symptoms [rarediseases.info.nih.gov]

disorder Approved pyrimethamine acute lymphoblastic leukemia post unrelated transplant, toxoplasmosis prophylaxis Approved pyrimethamine acute ocular toxoplasmosis Approved pyrimethamine AML, Graft Versus Host Disease, neutropenia Approved pyrimethamine [pharmac.govt.nz]

Fertility problem 1B110 Crying infant 1B13. Anxiousness 1B17. Depressed 1B19. Suicidal 1B1G. Headache 1B52. Unsteadiness present 1B9.. Speech problem 1Bb0. Fear of falling 1C1.. Hearing symptoms 1C11. Hearing normal 1C12. [wolfbane.com]

Check the hematopoietic and vascular system by observing for pallor, edema, varicosities, stasis ulcers, and venous distention. Check Guide for Aviation Medical Examiners Page 44 the nail beds for capillary pulsation and color. 2. Palpation. [leftseat.com]

Showing of 22 80%-99% of people have these symptoms Cachexia Wasting syndrome 0004326 Chronic diarrhea 0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea [rarediseases.info.nih.gov]

Case 3 A 22 year-old Caucasian Bulgarian man was hospitalized for chronic diarrhea, vomiting, and abdominal pain that had recurred since the age of 15. Diarrhea had not improved after a gluten-free diet. [em-consulte.com]

Major symptoms include abdominal pain and diarrhea. [equilibrium-health.com]

[…] chronic with villous atrophy Diarrhea polyendocrinopathy infections X linked Diastematomyelia Diastrophic dysplasia Dib-Din Dibasic aminoaciduria 2 Dibasic aminoaciduria type 1 Dicarboxylicaminoaciduria Die Smulders Droog Van Dijk syndrome Die Smulders [wikidoc.org]

Fever and localized tenderness associated with inflammation Intestinal obstruction - Colicky abdominal pain, constipation, nausea, vomiting Perforation and localized abscess - Fever, abdominal pain with or without signs of peritonitis Malabsorption - Diarrhea [emedicine.medscape.com]

Showing of 22 80%-99% of people have these symptoms Cachexia Wasting syndrome 0004326 Chronic diarrhea 0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea [rarediseases.info.nih.gov]

Case 2 A 30 year-old Kabyle woman was hospitalized for denutrition, chronic diarrhea, and recurrent episodes of vomiting, bloating, and abdominal cramping. [em-consulte.com]

Chronic diarrhea : Dietary habits (coffee) Parasitic infection: giardiasis, amebiasis. Inflammatory bowel disease CONSTIPATION : 2 bowel movements per week is normal in some people. Acute Constipation : Recent change in bowel habits. [kumc.edu]

Showing of 22 80%-99% of people have these symptoms Cachexia Wasting syndrome 0004326 Chronic diarrhea 0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea [rarediseases.info.nih.gov]

Classification developmental, genetic, otorhinolaryngological Phenotypes Autosomal recessive inheritance ; Fat malabsorption ; Hypoproteinemia ; Jejunoileal ulceration ; Peripheral neuropathy ; Sensorineural hearing impairment ; Small bowel diverticula ; Tachycardia [mousephenotype.org]

[…] symptoms is not available through HPO Autosomal recessive inheritance 0000007 Fat malabsorption 0002630 Hypoproteinemia Decreased protein levels in blood 0003075 Jejunoileal ulceration 0005229 Peripheral neuropathy 0009830 Small bowel diverticula 0002256 Tachycardia [rarediseases.info.nih.gov]

(SVT) Swelling (Undefined) Swollen Glands Syndactyly Syringomyelia Tachycardia Temporal Arteritis Temporomandibular Joint Disorder (TMJ) Tendinitis Testicle Deformity Thoracic Outlet Syndrome (TOS) Throat Tumors Thyroid Cancer (Hoshimotos) Thyroid Issues [agentorangelegacy.blogspot.com]

Dominant zonular cataract Donnai Barrow syndrome Door syndrome Dopamine beta-hydroxylase deficiency DOPA-responsive dystonia Double cortex Double discordia Double fingernail of fifth finger Double outlet left ventricle Double outlet right ventricle Double tachycardia [wikidoc.org]

Gallop: S3 sound plus tachycardia, giving the sound of a galloping horse. [kumc.edu]

Pain — neuralgia, myalgia, paresthesia, and related circulatory and neurological findings. 2. Weakness — local or generalized; degree and amount of functional loss. 3. Paralysis — atrophy, contractures, and related dysfunctions. 4. [leftseat.com]

Coli Symptom Cluster: Fever, myalgia, chills, nausea, vomiting, diarrhea, cramping abdominal pain. [kumc.edu]

osteoporosis, pericarditis Approved mepacrine systemic lupus erythematosus, arthralgia, glomerulonephritis, multiple fractures, myalgia, osteoporosis, pericarditis Approved renewal metformin with sitagliptin diabetes type 2 Declined methylphenidate [pharmac.govt.nz]

[…] impairment Speech impediment [ more ] 0002167 Ptosis Drooping upper eyelid 0000508 5%-29% of people have these symptoms Abnormality of eye movement Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ] 0000496 Brachydactyly [rarediseases.info.nih.gov]

Referred pain: Don't forget the Ddx of CAD in shoulder pain. Arthralgia: Defined as joint pains without objective signs of inflammation. It is caused by many processes, both inflammatory and non-inflammatory. Arthritis : Joint inflammation. [kumc.edu]

Showing of 22 80%-99% of people have these symptoms Cachexia Wasting syndrome 0004326 Chronic diarrhea 0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea [rarediseases.info.nih.gov]

Diverticula Of Small Bowel And Progressive Sensory Neuropathy Synonyms GROLL-HIRSCHOWITZ SYNDROME Classification developmental, genetic, otorhinolaryngological Phenotypes Autosomal recessive inheritance ; Fat malabsorption ; Hypoproteinemia ; Jejunoileal ulceration [mousephenotype.org]

The mucosa occasionally contains heterotopic gastric mucosa that is often responsible for peptic ulceration and bleeding. [emedicine.medscape.com]

oesophageal ulcers, polyarthralgia, vasculitis Approved adalimumab Behcet's disease, uveitis, Mouth ulcers, oesophageal ulcers, polyarthralgia, vasculitis Approved renewal adalimumab bilateral chronic uveitis, cataract, keratopathy, learning difficulties [pharmac.govt.nz]

The patient was 1 of 3 female siblings who have suffered from an exactly identical progressive disease: deafness, absent gastric motility, small bowel diverticulitis and ulceration, and sensory neuropathy. [karger.com]

[…] dysplasia, radicular Dentinogenesis imperfecta Dentophobia Depersonalization disorder Depression (clinical) Der-Dev Dercum's disease aka Adiposis dolorosa Der kaloustian Jarudi Khoury syndrome Der Kaloustian Mcintosh Silver syndrome Dermal Dysplasia Dermatitis [wikidoc.org]

Healthline NIDDK Cryoglobulinemia a form of vasculitis which an immune response to chronic hepatitis C infection John Hopkins Cetnter for Vasculitis D Dermatitis herpetiformis (DH) has itchy bumps and blisters on the scalp, buttocks, elbows and knees [equilibrium-health.com]

Atopic dermatitis and related M110. Napkin dermatitis M111. Atopic dermatitis / eczema M12.. Dermatitis (contact) M1241 Contact dermatitis - plasters M1271 Sunburn M1273 Photodermatitis M12z1 Eczema M14z. Bullous disorders M152. [wolfbane.com]

[…] cell transplant Approved brimonidine allergy to preservative, glaucoma Approved brimonidine glaucoma, intolerance to funded alternative Approved brimonidine glaucoma, intolerance to funded alternative Approved renewal budesonide autoimmune hepatitis, Dermatitis [pharmac.govt.nz]

Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Short palm 0004279 Percent of people who have these symptoms is not available through HPO Autosomal recessive [rarediseases.info.nih.gov]

[…] rash Approved renewal quinacrine SLE, Arthritis, Hashimoto's thyroiditis, Severe photosensitive rash Approved renewal quinacrine systemic lupus erythematosus, epilepsy, steroid sparing agent Approved quinacrine systemic lupus erythematosus, epilepsy, [pharmac.govt.nz]

Malar Rash Discoid rash Photosensitivity Oral ulcers Arthritis Serositis (pleuritis, pericarditis) Renal disorder Neurologic disorder (seizures, psychosis) Hematologic (anemia, leukopenia, lymphopenia, thrombocytopenia). [kumc.edu]

ABDA Johns Hopkins Vasculitis Center Bullus pemphigoid causes itchy red irregular shaped skin eruptions that result in scarring. Sometimes the mucous membranes are involved. [equilibrium-health.com]

Eruptive xanthomas. g. Hansen’s disease. h. Deep mycotic infections. i. Kaposi’s sarcoma. ITEM 41. G-U system The pelvic examination is performed only at the applicant’s option or if indicated by specific history or physical findings. [leftseat.com]

Rash / non-specific skin eruption R0330 Feeding problem in infant R040. Headache, unknown cause R0444 Dysphonia R047. Epistaxis R051. Palpitations R0523 Innocent heart murmur R061. Stridor R063. [wolfbane.com]

[…] disorder Depression (clinical) Der-Dev Dercum's disease aka Adiposis dolorosa Der kaloustian Jarudi Khoury syndrome Der Kaloustian Mcintosh Silver syndrome Dermal Dysplasia Dermatitis herpetiformis Dermatocardioskeletal syndrome Boronne type Dermatographic urticaria [wikidoc.org]

[…] omalizumab chronic urticaria, hypertension, intolerance to cyclosporin, osteoporosis, Steroid dependent Declined optifast Morbid Obesity, charcot's neuroarthropathy, diabetes type 2, Immobile Declined oral elemental feed 1kcal/ml Food sensitivities, [pharmac.govt.nz]

Urticaria N.... Musculoskeletal and connective tissue diseases N000z Systemic lupus erythematosis N001. Scleroderma N0095 Joint stiffness NEC N011. Reiter's disease N040. Rheumatoid arthritis N05.. Osteoarthritis and allied disorders N050. [wolfbane.com]

Health Issues Menorrhagia Metabolic Syndromes Methicillin Staphylococcus Resistant Aureus (MSRA) Methylenetetrahydrofolate Reductase (MTHFR) Microtia Migraine Headaches Miscarriages Missing Digits Missing Limbs/Body Parts Mittelschmerz Mitral Valve Prolapse [agentorangelegacy.blogspot.com]

Uterine Prolapse: Descent of the uterus into the vaginal canal. Graded from 1 (mild) to 3 (uterus descends past the vulva). [kumc.edu]

Osteoarthritis of spine N12C0 Cervical disk prolapse with radiculopathy N12C1 Thoracic disk prolapse with radiculopathy N12C2 Lumbar disk prolapse with radiculopathy N12zz Intervertebral disc disorders N13.. Other cervical disorders N131. [wolfbane.com]

The first is juvenile polyposis, which affects children aged 4-6 years, who usually present with protein-loosing enteropathy, diarrhea, hemorrhage rectal prolapse, and intestinal obstruction due to intussusception. [suprepkit.com]

[…] cardiomyopathy Approved mexiletine Chest Pain, neuropathic pain in pregnancy, SLE Approved mexiletine endometriosis, pelvic pain Approved mexiletine myotonia congenita, Thomsen's condition Approved mexiletine neuropathic pain in pregnancy, lumbar disc prolapse [pharmac.govt.nz]

movement Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ] 0000496 Brachydactyly Short fingers or toes 0001156 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity [rarediseases.info.nih.gov]

Neuropathy Synonyms GROLL-HIRSCHOWITZ SYNDROME Classification developmental, genetic, otorhinolaryngological Phenotypes Autosomal recessive inheritance ; Fat malabsorption ; Hypoproteinemia ; Jejunoileal ulceration ; Peripheral neuropathy ; Sensorineural hearing [mousephenotype.org]

Showing of 22 80%-99% of people have these symptoms Cachexia Wasting syndrome 0004326 Chronic diarrhea 0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea [rarediseases.info.nih.gov]

He stated that he now takes Tecta twice a day, that his symptoms are controlled by the medications, and that he doesn’t suffer any side effects from the medications. [19] He was born with a hearing impairment. [www1.canada.ca]

Orpha Number: 3217 Disease definition Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility [rarediseases.info.nih.gov]

Small Bowel And Progressive Sensory Neuropathy Synonyms GROLL-HIRSCHOWITZ SYNDROME Classification developmental, genetic, otorhinolaryngological Phenotypes Autosomal recessive inheritance ; Fat malabsorption ; Hypoproteinemia ; Jejunoileal ulceration ; Peripheral [mousephenotype.org]

neuropathy 0009830 Small bowel diverticula 0002256 Tachycardia Fast heart rate Heart racing Racing heart [ more ] 0001649 Showing of 22 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who [rarediseases.info.nih.gov]

Isolated motor neuron degeneration occurs in association with unique ATP7A missense mutations affecting axonal trafficking, and sensory peripheral neuropathy can be a component of Wilson’s disease. [es.slideshare.net]

neuropathy arterial disease Deafness progressive cataract autosomal dominant Deafness skeletal dysplasia lip granuloma Deafness symphalangism Deafness v-Deafness x Deafness vitiligo achalasia Deafness white hair contractures papillomas Deafness X-linked [wikidoc.org]

Alcoholism manifests a lot of neurological symptoms (Wernicke, beriberi, peripheral neuropathies). [kumc.edu]

disorder Speech impairment Speech impediment [ more ] 0002167 Ptosis Drooping upper eyelid 0000508 5%-29% of people have these symptoms Abnormality of eye movement Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [rarediseases.info.nih.gov]

Decreased reflexes [ more ] 0001265 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Ptosis Drooping upper eyelid 0000508 5%-29% of people have these symptoms Abnormality of eye movement Abnormal eye [rarediseases.info.nih.gov]

0002028 Duodenal ulcer 0002588 EMG abnormality 0003457 Hemiplegia Paralysis on one side of body 0002301 Sensorineural hearing impairment 0000407 Steatorrhea Fat in feces 0002570 30%-79% of people have these symptoms Abnormality of the pharynx 0000600 Hyporeflexia [rarediseases.info.nih.gov]