- Renal Tubular Acidosis, Distal, With Hemolytic Anemia Omim
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Acromesomelic Dysplasia, Hunter-Thompson Type
Omim
INHERITANCE - Autosomal recessive GROWTH Height - Severe short-limb dwarfism SKELETAL Pelvis - Hip dislocation Limbs - Acromesomelia - Joint dislocations (elbow, knee, ankle) - Short radius - Short ulna - Radial bowing - Distal femoral bowing - Short tibia - Very short fibulae Hands - Short thumbs and fingers - Transverse palmar creases - Abnormally shaped carpal bones - Nine carpal bones - Short, cuboidal metacarpals - Short proximal and medial phalanges Feet - Short feet - Ball-shaped toes SKIN, NAILS, & HAIR Skin - Transverse palmar creases MISCELLANEOUS - Allelic to Grebe syndrome ( 200700 ), brachydactyly, type C ( 113100 ), fibular hypoplasia and complex brachydactyly ( 228900 ) MOLECULAR BASIS - Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0001 ) ▲ Close
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Facial Clefting, Oblique, 1
Omim
Heterozygous mutation in the SPECC1L gene can also cause Opitz GBBB syndrome type II (GBBB2; 145410), which includes facial clefting as a feature.
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Angioma Serpiginosum, X-Linked
Omim
Blinkenberg et al. (2007) suggested that the disorder may be a mild variant of the Goltz-Gorlin syndrome (focal dermal hypoplasia; FDH; 305600).
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Cataract 46, Juvenile-Onset
Omim
In another family the proband had retinitis pigmentosa and congenital deafness (Usher syndrome, 276900). Recessively inherited congenital cataract was found to be frequent in Cyprus by Merin et al. (1972).
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Malposition Of Teeth With Or Without Hypodontia/oligodontia
Omim
This would be consistent with different manifestations of a single syndrome with incomplete penetrance for each manifestation.
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Retinal Arteries, Tortuosity Of
Omim
The G510R mutation was previously detected in heterozygosity in affected members of a French family who exhibited features of angiopathy associated with nephropathy, aneurysms, and muscle cramps (HANAC syndrome; 611773) by Plaisier et al. (2010)..
- Epidermolysis Bullosa Simplex With Mottled Pigmentation Omim
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Blood Group, Kidd System
Omim
Clinical Features Although Jk-null red blood cells have reduced urea permeability, the Jk deficiency is not associated with any obvious clinical syndrome except for a urine concentration defect (Sands et al., 1992) that probably results from the absence of the Jk protein expressed on endothelial cells of the vasa recta of kidney (Xu et al., 1997; Promeneur et al., 1996).
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Anhidrosis, Isolated, With Normal Sweat Glands
Omim
Ingber (1990) suggested that the disorder described by Dann et al. (1990) be named Dann-Epstein-Sohar syndrome. Klar et al. (2014) described a consanguineous Pakistani family in which 5 members had anhidrosis and severe heat intolerance, confirmed by starch-iodine sweat test.
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Charcot-Marie-Tooth Disease, Type 4b3
Omim
Clinical Variability Bohlega et al. (2011) reported 3 adult brothers, born of consanguineous Saudi parents, with a syndromic form of sensorimotor polyneuropathy.
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Ciliary Dyskinesia, Primary, 23
Omim
Seven of 12 individuals had neonatal respiratory distress syndrome. In addition, 8 of the 12 affected individuals had situs inversus totalis and 4 had situs solitus.
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Mucosal Melanoma
Wikipedia
External links [ edit ] Classification D ICD - 10 : C43.9 OMIM : 155600 MeSH : D008546 v t e Skin cancer of nevi and melanomas Melanoma Mucosal melanoma Superficial spreading melanoma Nodular melanoma lentigo Lentigo maligna / Lentigo maligna melanoma Acral lentiginous melanoma Amelanotic melanoma Desmoplastic melanoma Melanoma with features of a Spitz nevus Melanoma with small nevus-like cells Polypoid melanoma Nevoid melanoma Melanocytic tumors of uncertain malignant potential Nevus / melanocytic nevus Nevus of Ito / Nevus of Ota Spitz nevus Pigmented spindle cell nevus Halo nevus Pseudomelanoma Blue nevus of Jadassohn–Tièche Cellular Epithelioid Deep penetrating Amelanotic Malignant Congenital melanocytic nevus ( Giant Medium-sized Small-sized ) Balloon cell nevus Dysplastic nevus / Dysplastic nevus syndrome Acral nevus Becker's nevus Benign melanocytic nevus Nevus spilus This cutaneous condition article is a stub .
- Head For Heights Wikipedia
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Histiocytoma (Dog)
Wikipedia
They include the following: Reactive diseases of Langerhans cells Histiocytomas Cutaneous histiocytosis Systemic histiocytosis Reactive diseases of macrophages Hemophagocytic syndrome - a condition where macrophages phagocytose myeloid and erythroid precursors (similar to hemophagocytic lymphohistiocytosis in humans) Malignant diseases of Langerhans cells Malignant histiocytosis - a condition found in Bernese Mountain Dogs Diffuse histiocytic sarcoma Localized histiocytic sarcoma Malignant diseases of macrophages Histiocytic lymphoma Tumor biology [ edit ] Canine histiocytoma cytology A histiocytoma originates from epidermal Langerhans cells of antigen-presenting cell lineage. [4] Spontaneous regression is common in these tumors, and it is mediated by infiltration of CD8 -expressing T cells followed by expression of Type 1 T helper cell cytokines (such as Interferon-gamma ) and recruitment of antitumour effector cells . [5] Symptoms [ edit ] Most commonly histiocytomas are found in young dogs and appear as a small, solitary, hairless lump, [6] although Shar Peis may be predisposed to multiple histiocytomas. [7] They are most commonly found on the head, neck, ears, and limbs, and are usually less than 2.5 cm in diameter. [8] Ulceration of the mass is common.
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Disorder Of Written Expression
Wikipedia
External links [ edit ] Classification D ICD - 10 : F81.8 ICD - 9-CM : 315.2 v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
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Tin Poisoning
Wikipedia
External links [ edit ] Classification D ICD - 10 : T56.6 ICD - 9-CM : 985.8 v t e Poisoning Toxicity Overdose History of poison Inorganic Metals Toxic metals Beryllium Cadmium Lead Mercury Nickel Silver Thallium Tin Dietary minerals Chromium Cobalt Copper Iron Manganese Zinc Metalloids Arsenic Nonmetals Sulfuric acid Selenium Chlorine Fluoride Organic Phosphorus Pesticides Aluminium phosphide Organophosphates Nitrogen Cyanide Nicotine Nitrogen dioxide poisoning CHO alcohol Ethanol Ethylene glycol Methanol Carbon monoxide Oxygen Toluene Pharmaceutical Drug overdoses Nervous Anticholinesterase Aspirin Barbiturates Benzodiazepines Cocaine Lithium Opioids Paracetamol Tricyclic antidepressants Cardiovascular Digoxin Dipyridamole Vitamin poisoning Vitamin A Vitamin D Vitamin E Megavitamin-B 6 syndrome Biological 1 Fish / seafood Ciguatera Haff disease Ichthyoallyeinotoxism Scombroid Shellfish poisoning Amnesic Diarrhetic Neurotoxic Paralytic Other vertebrates amphibian venom Batrachotoxin Bombesin Bufotenin Physalaemin birds / quail Coturnism snake venom Alpha-Bungarotoxin Ancrod Batroxobin Arthropods Arthropod bites and stings bee sting / bee venom Apamin Melittin scorpion venom Charybdotoxin spider venom Latrotoxin / Latrodectism Loxoscelism tick paralysis Plants / fungi Cinchonism Ergotism Lathyrism Locoism Mushrooms Strychnine 1 including venoms , toxins , foodborne illnesses .
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Blue Eye Disease
Wikipedia
Porcine orthorubulavirus Virus classification (unranked): Virus Realm : Riboviria Kingdom: Orthornavirae Phylum: Negarnaviricota Class: Monjiviricetes Order: Mononegavirales Family: Paramyxoviridae Genus: Orthorubulavirus Species: Porcine orthorubulavirus Member virus [1] La-Piedad-Michoacan-Mexico virus Blue eye disease is caused by La Piedad Michoacán Mexico virus ( LPMV ), the only member virus of the species Porcine orthorubulavirus in the Paramyxoviridae family. [2] [3] Synonyms for the disease include "Blue Eye Syndrome" and "Porcine Paramyxovirus Blue Eye Disease", and "La Piedad Michoacán Paramyxovirus Infection".
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Monomania
Wikipedia
Monomania Portrait of a woman titled Monomania of Envy by Théodore Géricault [1] Specialty Psychiatry In 19th-century psychiatry , monomania (from Greek monos , one, and mania , meaning "madness" or "frenzy") was a form of partial insanity conceived as single pathological preoccupation in an otherwise sound mind. [2] : 155 [3] : 26 Contents 1 Types 2 History 3 See also 4 References 5 External links Types [ edit ] Monomania may refer to: De Clerambault's syndrome ( erotomania ): Delusion that a particular man or woman is in love with the patient.
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Immunodeficiency 22
Omim
At about 2 years of age, she developed ascites and pericarditis with capillary leak syndrome and retinal vasculitis. At age 29 months, she had anemia and thrombocytopenia with antiplatelet antibodies.