Multiple myeloma

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

Input patient's signs and symptoms

Narrow down the case reports

Total: 3282 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (57.8%)	29142783 (5684708)	Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey–Silverman Disease) Engel RR, Cifuentes RF. AJP Rep. 2017;7(3):e174-e180. [ Show abstract ] [ Hide abstract ]
		Micrognathia



2 (45.3%)	29372057 (5768267)	Right orbital edema masquerading a hematologic malignancy. Tiu AC, Arguello-Guerra V, Varadi G. SAGE Open Med Case Rep. 2018;6:2050313X17751838. [ Show abstract ] [ Hide abstract ]
		Acute sinusitis Conjunctivitis
		SDC1


2 (45.3%)	3486337	Hemophilus influenzae septic arthritis in adults. A report of four cases and a review of the literature. Borenstein DG, Simon GL. Medicine (Baltimore). 1986;65(3):191-201. [ Show abstract ] [ Hide abstract ]
		Sinusitis Conjunctivitis


		Adult Anti-Bacterial Agents Arthritis, Infectious Combined Modality Therapy Females Haemophilus Infections Haemophilus influenzae Homo sapiens Male
4 (42.7%)	30635344	Elderly man with mandibular pain. Lee KC, Ferguson BM. Emerg Med J. 2019;36(1):17-32. [ Show abstract ] [ Hide abstract ]
		Mandibular pain


		Abscess Anti-Bacterial Agents Bone Density Conservation Agents Fever Homo sapiens Male Mandible Pain X-Ray Computed Tomography
4 (42.7%)	29797838	Multiple myeloma presenting as mandibular pain. Crowley M, Cronin O, Sleeman D, McKenna J. J Ir Dent Assoc. 2016;62(5):276-278. [ Show abstract ] [ Hide abstract ]
		Mandibular pain


		Biopsy Females Homo sapiens Mandible Mandibular Neoplasms Multiple Myeloma Pain
4 (42.7%)	17118761	Hyperbaric oxygen in addition to antibiotic therapy is effective for bisphosphonate-induced osteonecrosis of the jaw in a patient with multiple myeloma. Shimura K, Shimazaki C, Taniguchi K, Akamatsu S, Okamoto M, Uchida R, Nomura K, Inaba T, Horiike S, Kanamura N, Taniwaki M. Int J Hematol. 2006;84(4):343-5. [ Show abstract ] [ Hide abstract ]
		Mandibular pain


		Anti-Bacterial Agents Diagnostic Imaging Diphosphonates Homo sapiens Jaw Diseases Male Mandible Middle Aged Multiple Myeloma Pain
7 (40.9%)	27816878	Invasive granulomatous cryptococcal sinusitis in an adult with multiple myeloma. Ferraro RA, Ivanidze J, Margolskee E, Tsang H, Sconomiglio T, Jhanwar YS. Clin Imaging. 2017;41:65-68. [ Show abstract ] [ Hide abstract ]
		Sinusitis


		Cryptococcosis Differential Diagnosis Granuloma Homo sapiens Immunocompromised Host Magnetic Resonance Imaging Male Middle Aged Multiple Myeloma Sinusitis
7 (40.9%)	24847501	Multiple myeloma in bisphosphonate-affected jaws--a diagnostic challenge: case report. Katkar RA, Katz J, Moreb JS, Nair MK. Quintessence Int. 2014;45(7):613-7. [ Show abstract ] [ Hide abstract ]
		Sinusitis


		Bisphosphonate-Associated Osteonecrosis of the Jaw Cone-Beam Computed Tomography Diphosphonates Homo sapiens Magnetic Resonance Imaging Male Middle Aged Multiple Myeloma
7 (40.9%)	14968081	[Orbital extension of sinus plasmacytoma secondarily transforming into multiple myeloma: a case study]. Balayre S, Gicquel JJ, Mercie M, Dighiero P. J Fr Ophtalmol. 2004;27(1):67-71. [ Show abstract ] [ Hide abstract ]
		Chronic sinusitis


		Adult Antineoplastic Agents Antineoplastic Agents, Hormonal Antineoplastic Agents, Phytogenic Antineoplastic Combined Chemotherapy Protocols Biopsy Diplopia Exophthalmos Homo sapiens Male Maxillary Sinus Maxillary Sinus Neoplasms Methylprednisolone Hemisuccinate Multiple Myeloma Orbital Neoplasms Paranasal Sinus Neoplasms Plasmacytoma Visual Acuity X-Ray Computed Tomography
7 (40.9%)	14605710	[Foudroyant rhinocerebral zygomycosis]. Sudhoff H, Wagner M, Theegarten D, Rong Ming G, Bremer K, Heimann KD, Tintelnot K, Dazert S. HNO. 2003;51(11):908-11. [ Show abstract ] [ Hide abstract ]
		Acute sinusitis


		Aged, 80 and over Combined Modality Therapy Disease Progression Fatal Outcome Homo sapiens Male Meningitis, Fungal Multiple Myeloma Necrosis Opportunistic Infections Rhinitis Sinusitis Turbinates Zygomycosis

Phenotype(s) retrieved from Orphanet

Total: 26

HPO ID	Term	Frequency
HP:0000938	Osteopenia	Very frequent (99-80%)
HP:0002756	Pathologic fracture	Very frequent (99-80%)
HP:0000100	Nephrotic syndrome	Frequent (79-30%)
HP:0000112	Nephropathy	Frequent (79-30%)
HP:0001903	Anemia	Frequent (79-30%)
HP:0001919	Acute kidney injury	Frequent (79-30%)
HP:0002152	Hyperproteinemia	Frequent (79-30%)
HP:0002653	Bone pain	Frequent (79-30%)
HP:0003237	Increased circulating IgG level	Frequent (79-30%)
HP:0003259	Elevated serum creatinine	Frequent (79-30%)
HP:0003324	Generalized muscle weakness	Frequent (79-30%)
HP:0004313	Decreased antibody level in blood	Frequent (79-30%)
HP:0012378	Fatigue	Frequent (79-30%)
HP:0000014	Abnormality of the bladder	Occasional (29-5%)
HP:0000098	Tall stature	Occasional (29-5%)
HP:0001824	Weight loss	Occasional (29-5%)
HP:0002176	Spinal cord compression	Occasional (29-5%)
HP:0002953	Vertebral compression fractures	Occasional (29-5%)
HP:0003072	Hypercalcemia	Occasional (29-5%)
HP:0003261	Increased circulating IgA level	Occasional (29-5%)
HP:0003401	Paresthesia	Occasional (29-5%)
HP:0004341	Abnormality of vitamin B12 metabolism	Occasional (29-5%)
HP:0012719	Functional abnormality of the gastrointestinal tract	Occasional (29-5%)
HP:0001744	Splenomegaly	Very rare (4-1%)
HP:0002202	Pleural effusion	Very rare (4-1%)
HP:0002716	Lymphadenopathy	Very rare (4-1%)

Phenotype(s) retrieved from case reports

Total: 468

HPO ID	Term	# of case reports
HP:0003072	Hypercalcemia	119
HP:0001909	Leukemia	117
HP:0002664	Neoplasm	105
HP:0002835	Aspiration	70
HP:0001903	Anemia	67
HP:0002202	Pleural effusion	55
HP:0000939	Osteoporosis	40
HP:0000112	Nephropathy	39
HP:0002653	Bone pain	39
HP:0030731	Carcinoma	39
HP:0001945	Fever	38
HP:0005523	Lymphoproliferative disorder	38
HP:0001370	Rheumatoid arthritis	34
HP:0002090	Pneumonia	33
HP:0030150	Plasmacytosis	33
HP:0000083	Renal insufficiency	27
HP:0031047	Paraproteinemia	25
HP:0012115	Hepatitis	22
HP:0030156	Bence Jones Proteinuria	22
HP:0100778	Cryoglobulinemia	22
HP:0001271	Polyneuropathy	21
HP:0012125	Prostate cancer	21
HP:0003418	Back pain	20
HP:0008200	Primary hyperparathyroidism	19
HP:0000952	Jaundice	18
HP:0001541	Ascites	18
HP:0002176	Spinal cord compression	18
HP:0000822	Hypertension	17
HP:0001298	Encephalopathy	17
HP:0001987	Hyperammonemia	17
HP:0011974	Myelofibrosis	17
HP:0100727	Histiocytosis	17
HP:0002027	Abdominal pain	16
HP:0000093	Proteinuria	15
HP:0000819	Diabetes mellitus	15
HP:0002094	Dyspnea	14
HP:0002488	Acute leukemia	14
HP:0100806	Sepsis	14
HP:0001287	Meningitis	13
HP:0002756	Pathologic fracture	13
HP:0002861	Melanoma	13
HP:0009830	Peripheral neuropathy	13
HP:0000099	Glomerulonephritis	12
HP:0000100	Nephrotic syndrome	12
HP:0003040	Arthropathy	12
HP:0032252	Granuloma	12
HP:0100726	Kaposi's sarcoma	12
HP:0002797	Osteolysis	11
HP:0000520	Proptosis	10
HP:0000979	Purpura	10
HP:0000991	Xanthomatosis	10
HP:0001635	Congestive heart failure	10
HP:0001824	Weight loss	10
HP:0002716	Lymphadenopathy	10
HP:0002754	Osteomyelitis	10
HP:0002905	Hyperphosphatemia	10
HP:0012378	Fatigue	10
HP:0031864	Bacteremia	10
HP:0000843	Hyperparathyroidism	9
HP:0001028	Hemangioma	9
HP:0001698	Pericardial effusion	9
HP:0001873	Thrombocytopenia	9
HP:0001875	Neutropenia	9
HP:0001919	Acute kidney injury	9
HP:0003077	Hyperlipidemia	9
HP:0003095	Septic arthritis	9
HP:0000114	Proximal tubulopathy	8
HP:0001289	Confusion	8
HP:0001394	Cirrhosis	8
HP:0002015	Dysphagia	8
HP:0002196	Myelopathy	8
HP:0002721	Immunodeficiency	8
HP:0003002	Breast carcinoma	8
HP:0012735	Cough	8
HP:0001369	Arthritis	7
HP:0001880	Eosinophilia	7
HP:0002315	Headache	7
HP:0002878	Respiratory failure	7
HP:0002897	Parathyroid adenoma	7
HP:0100658	Cellulitis	7
HP:0000097	Focal segmental glomerulosclerosis	6
HP:0001297	Stroke	6
HP:0001406	Intrahepatic cholestasis	6
HP:0001638	Cardiomyopathy	6
HP:0001735	Acute pancreatitis	6
HP:0002014	Diarrhea	6
HP:0002240	Hepatomegaly	6
HP:0002863	Myelodysplasia	6
HP:0025615	Abscess	6
HP:0100584	Endocarditis	6
HP:0100820	Glomerulopathy	6
HP:0000622	Blurred vision	5
HP:0000651	Diplopia	5
HP:0001399	Hepatic failure	5
HP:0001433	Hepatosplenomegaly	5
HP:0001482	Subcutaneous nodule	5
HP:0001876	Pancytopenia	5
HP:0001878	Hemolytic anemia	5
HP:0002013	Vomiting	5
HP:0002098	Respiratory distress	5
HP:0002148	Hypophosphatemia	5
HP:0002248	Hematemesis	5
HP:0002583	Colitis	5
HP:0002860	Squamous cell carcinoma	5
HP:0002902	Hyponatremia	5
HP:0002953	Vertebral compression fractures	5
HP:0003419	Low back pain	5
HP:0003470	Paralysis	5
HP:0012223	Splenic rupture	5
HP:0012636	Retinal vein occlusion	5
HP:0020110	Bone fracture	5
HP:0100749	Chest pain	5
HP:0100758	Gangrene	5
HP:0000096	Glomerulosclerosis	4
HP:0000123	Nephritis	4
HP:0000508	Ptosis	4
HP:0000790	Hematuria	4
HP:0000821	Hypothyroidism	4
HP:0000836	Hyperthyroidism	4
HP:0001082	Cholecystitis	4
HP:0001658	Myocardial infarction	4
HP:0001733	Pancreatitis	4
HP:0001744	Splenomegaly	4
HP:0001894	Thrombocytosis	4
HP:0001974	Leukocytosis	4
HP:0001978	Extramedullary hematopoiesis	4
HP:0002018	Nausea	4
HP:0002204	Pulmonary embolism	4
HP:0002901	Hypocalcemia	4
HP:0003003	Colon cancer	4
HP:0003128	Lactic acidosis	4
HP:0003198	Myopathy	4
HP:0003201	Rhabdomyolysis	4
HP:0004387	Enterocolitis	4
HP:0004936	Venous thrombosis	4
HP:0010980	Hyperlipoproteinemia	4
HP:0011897	Neutrophilia	4
HP:0030049	Brain abscess	4
HP:0200023	Priapism	4
HP:0200034	Papule	4
HP:0000421	Epistaxis	3
HP:0000488	Retinopathy	3
HP:0000501	Glaucoma	3
HP:0000938	Osteopenia	3
HP:0000969	Edema	3
HP:0000999	Pyoderma	3
HP:0001138	Optic neuropathy	3
HP:0001250	Seizures	3
HP:0001269	Hemiparesis	3
HP:0001396	Cholestasis	3
HP:0001954	Recurrent fever	3
HP:0002039	Anorexia	3
HP:0002099	Asthma	3
HP:0002113	Pulmonary infiltrates	3
HP:0002140	Ischemic stroke	3
HP:0002590	Paralytic ileus	3
HP:0002625	Deep venous thrombosis	3
HP:0005110	Atrial fibrillation	3
HP:0005112	Abdominal aortic aneurysm	3
HP:0007185	Loss of consciousness	3
HP:0007957	Corneal opacity	3
HP:0010550	Paraplegia	3
HP:0012246	Oculomotor nerve palsy	3
HP:0012722	Heart block	3
HP:0025318	Ovarian carcinoma	3
HP:0031035	Chronic infection	3
HP:0031690	Opportunistic infection	3
HP:0100008	Schwannoma	3
HP:0100242	Sarcoma	3
HP:0100279	Ulcerative colitis	3
HP:0100537	Fasciitis	3
HP:0200042	Skin ulcer	3
HP:0200123	Chronic hepatitis	3
HP:0410288	Hyperamylasemia	3
HP:0000024	Prostatitis	2
HP:0000121	Nephrocalcinosis	2
HP:0000126	Hydronephrosis	2
HP:0000246	Sinusitis	2
HP:0000529	Progressive visual loss	2
HP:0000572	Visual loss	2
HP:0000573	Retinal hemorrhage	2
HP:0000602	Ophthalmoplegia	2
HP:0000726	Dementia	2
HP:0000967	Petechiae	2
HP:0000989	Pruritus	2
HP:0001047	Atopic dermatitis	2
HP:0001096	Keratoconjunctivitis	2
HP:0001254	Lethargy	2
HP:0001324	Muscle weakness	2
HP:0001409	Portal hypertension	2
HP:0001695	Cardiac arrest	2
HP:0001889	Megaloblastic anemia	2
HP:0001907	Thromboembolism	2
HP:0001941	Acidosis	2
HP:0001943	Hypoglycemia	2
HP:0001944	Dehydration	2
HP:0001947	Renal tubular acidosis	2
HP:0001950	Respiratory alkalosis	2
HP:0002024	Malabsorption	2
HP:0002093	Respiratory insufficiency	2
HP:0002097	Emphysema	2
HP:0002105	Hemoptysis	2
HP:0002155	Hypertriglyceridemia	2
HP:0002249	Melena	2
HP:0002329	Drowsiness	2
HP:0002352	Leukoencephalopathy	2
HP:0002385	Paraparesis	2
HP:0002527	Falls	2
HP:0002576	Intussusception	2
HP:0002615	Hypotension	2
HP:0002647	Aortic dissection	2
HP:0002719	Recurrent infections	2
HP:0002749	Osteomalacia	2
HP:0002862	Bladder carcinoma	2
HP:0003073	Hypoalbuminemia	2
HP:0003228	Hypernatremia	2
HP:0003565	Elevated erythrocyte sedimentation rate	2
HP:0003761	Calcinosis	2
HP:0004377	Hematological neoplasm	2
HP:0004420	Arterial thrombosis	2
HP:0004787	Fulminant hepatitis	2
HP:0004918	Hyperchloremic metabolic acidosis	2
HP:0005526	Lymphoid leukemia	2
HP:0005550	Chronic lymphatic leukemia	2
HP:0005558	Chronic leukemia	2
HP:0006515	Interstitial pneumonitis	2
HP:0008682	Acute tubular necrosis	2
HP:0010280	Stomatitis	2
HP:0010307	Stridor	2
HP:0010783	Erythema	2
HP:0011458	Abdominal symptom	2
HP:0011901	Dysfibrinogenemia	2
HP:0011947	Respiratory tract infection	2
HP:0012050	Anasarca	2
HP:0012126	Stomach cancer	2
HP:0012219	Erythema nodosum	2
HP:0020101	Invasive fungal infection	2
HP:0025142	Constitutional symptom	2
HP:0025289	Cervical lymphadenopathy	2
HP:0030834	Shoulder pain	2
HP:0030838	Hip pain	2
HP:0031002	Neuritis	2
HP:0031218	Inappropriate antidiuretic hormone secretion	2
HP:0031273	Shock	2
HP:0031898	Rouleaux formation	2
HP:0032169	Severe infection	2
HP:0032404	Testicular mass	2
HP:0040160	Generalized osteoporosis	2
HP:0100543	Cognitive impairment	2
HP:0100598	Pulmonary edema	2
HP:0100646	Thyroiditis	2
HP:0100699	Scarring	2
HP:0100827	Lymphocytosis	2
HP:0200036	Skin nodule	2
HP:0000016	Urinary retention	1
HP:0000017	Nocturia	1
HP:0000206	Glossitis	1
HP:0000518	Cataract	1
HP:0000531	Corneal crystals	1
HP:0000541	Retinal detachment	1
HP:0000620	Dacryocystitis	1
HP:0000639	Nystagmus	1
HP:0000656	Ectropion	1
HP:0000718	Aggressive behavior	1
HP:0000739	Anxiety	1
HP:0000741	Apathy	1
HP:0000771	Gynecomastia	1
HP:0000787	Nephrolithiasis	1
HP:0000829	Hypoparathyroidism	1
HP:0000853	Goiter	1
HP:0000872	Hashimoto thyroiditis	1
HP:0000873	Diabetes insipidus	1
HP:0000956	Acanthosis nigricans	1
HP:0000964	Eczema	1
HP:0000980	Pallor	1
HP:0000982	Palmoplantar keratoderma	1
HP:0001025	Urticaria	1
HP:0001045	Vitiligo	1
HP:0001048	Cavernous hemangioma	1
HP:0001050	Plethora	1
HP:0001278	Orthostatic hypotension	1
HP:0001279	Syncope	1
HP:0001288	Gait disturbance	1
HP:0001342	Cerebral hemorrhage	1
HP:0001350	Slurred speech	1
HP:0001386	Joint swelling	1
HP:0001508	Failure to thrive	1
HP:0001607	Subglottic stenosis	1
HP:0001649	Tachycardia	1
HP:0001653	Mitral regurgitation	1
HP:0001663	Ventricular fibrillation	1
HP:0001664	Torsade de pointes	1
HP:0001678	Atrioventricular block	1
HP:0001688	Sinus bradycardia	1
HP:0001692	Atrial arrhythmia	1
HP:0001701	Pericarditis	1
HP:0001722	High-output congestive heart failure	1
HP:0001888	Lymphopenia	1
HP:0001896	Reticulocytopenia	1
HP:0001913	Granulocytopenia	1
HP:0001955	Unexplained fevers	1
HP:0001960	Hypokalemic metabolic alkalosis	1
HP:0001962	Palpitations	1
HP:0001994	Renal Fanconi syndrome	1
HP:0002017	Nausea and vomiting	1
HP:0002019	Constipation	1
HP:0002028	Chronic diarrhea	1
HP:0002040	Esophageal varix	1
HP:0002069	Generalized tonic-clonic seizures	1
HP:0002102	Pleuritis	1
HP:0002108	Spontaneous pneumothorax	1
HP:0002150	Hypercalciuria	1
HP:0002152	Hyperproteinemia	1
HP:0002153	Hyperkalemia	1
HP:0002157	Azotemia	1
HP:0002170	Intracranial hemorrhage	1
HP:0002206	Pulmonary fibrosis	1
HP:0002301	Hemiplegia	1
HP:0002321	Vertigo	1
HP:0002381	Aphasia	1
HP:0002540	Inability to walk	1
HP:0002571	Achalasia	1
HP:0002573	Hematochezia	1
HP:0002586	Peritonitis	1
HP:0002595	Ileus	1
HP:0002613	Biliary cirrhosis	1
HP:0002617	Dilatation	1
HP:0002634	Arteriosclerosis	1
HP:0002671	Basal cell carcinoma	1
HP:0002758	Osteoarthritis	1
HP:0002829	Arthralgia	1
HP:0002875	Exertional dyspnea	1
HP:0002917	Hypomagnesemia	1
HP:0003075	Hypoproteinemia	1
HP:0003109	Hyperphosphaturia	1
HP:0003146	Hypocholesterolemia	1
HP:0003259	Elevated serum creatinine	1
HP:0003324	Generalized muscle weakness	1
HP:0003326	Myalgia	1
HP:0003474	Sensory impairment	1
HP:0003540	Impaired platelet aggregation	1
HP:0003552	Muscle stiffness	1
HP:0004326	Cachexia	1
HP:0004389	Intestinal pseudo-obstruction	1
HP:0004395	Malnutrition	1
HP:0004417	Intermittent claudication	1
HP:0004418	Thrombophlebitis	1
HP:0004729	Acute tubulointerstitial nephritis	1
HP:0004749	Atrial flutter	1
HP:0004947	Arteriovenous fistula	1
HP:0005200	Retroperitoneal fibrosis	1
HP:0005214	Intestinal obstruction	1
HP:0005263	Gastritis	1
HP:0005327	Loss of facial expression	1
HP:0005881	Spinal instability	1
HP:0006562	Viral hepatitis	1
HP:0006597	Diaphragmatic paralysis	1
HP:0006640	Multiple rib fractures	1
HP:0006702	Coronary artery dissection	1
HP:0006888	Meningoencephalocele	1
HP:0007006	Dorsal column degeneration	1
HP:0007141	Sensorimotor neuropathy	1
HP:0007663	Reduced visual acuity	1
HP:0007677	Vitelliform-like macular lesions	1
HP:0007807	Optic nerve compression	1
HP:0007824	Total ophthalmoplegia	1
HP:0008069	Neoplasm of the skin	1
HP:0008404	Nail dystrophy	1
HP:0009725	Bladder neoplasm	1
HP:0009792	Teratoma	1
HP:0009831	Mononeuropathy	1
HP:0010444	Pulmonary insufficiency	1
HP:0010536	Central sleep apnea	1
HP:0011423	Hyperchloremia	1
HP:0011505	Cystoid macular edema	1
HP:0011675	Arrhythmia	1
HP:0011704	Sick sinus syndrome	1
HP:0011713	Left bundle branch block	1
HP:0011769	Ectopic parathyroid	1
HP:0011854	Hemoperitoneum	1
HP:0011896	Subconjunctival hemorrhage	1
HP:0011900	Hypofibrinogenemia	1
HP:0012062	Bone cyst	1
HP:0012151	Hemothorax	1
HP:0012213	Decreased glomerular filtration rate	1
HP:0012231	Exudative retinal detachment	1
HP:0012234	Agranulocytosis	1
HP:0012235	Drug-induced agranulocytosis	1
HP:0012250	ST segment depression	1
HP:0012251	ST segment elevation	1
HP:0012282	Morbilliform rash	1
HP:0012311	Monocytosis	1
HP:0012315	Histiocytoma	1
HP:0012318	Occipital neuralgia	1
HP:0012324	Myeloid leukemia	1
HP:0012330	Pyelonephritis	1
HP:0012334	Extrahepatic cholestasis	1
HP:0012393	Allergy	1
HP:0012416	Hypercapnia	1
HP:0012418	Hypoxemia	1
HP:0012452	Restless legs	1
HP:0012490	Panniculitis	1
HP:0012531	Pain	1
HP:0012588	Steroid-resistant nephrotic syndrome	1
HP:0012593	Nephrotic range proteinuria	1
HP:0012721	Venous malformation	1
HP:0025059	Splenic abscess	1
HP:0025085	Bloody diarrhea	1
HP:0025126	Oral hairy leukoplakia	1
HP:0025322	Venous occlusion	1
HP:0025343	Lupus anticoagulant	1
HP:0025388	Thyroid nodule	1
HP:0025406	Asthenia	1
HP:0025439	Pharyngitis	1
HP:0025608	Cicatricial ectropion	1
HP:0030038	Enchondroma	1
HP:0030151	Cholangitis	1
HP:0030166	Night sweats	1
HP:0030358	Non-small cell lung carcinoma	1
HP:0030773	Internuclear ophthalmoplegia	1
HP:0030833	Neck pain	1
HP:0030836	Wrist pain	1
HP:0030839	Knee pain	1
HP:0030840	Ankle pain	1
HP:0030955	Alcoholism	1
HP:0031245	Productive cough	1
HP:0031258	Delirium	1
HP:0031368	Intestinal perforation	1
HP:0031457	Pulmonary opacity	1
HP:0031504	Foamy urine	1
HP:0031525	Keratoacanthoma	1
HP:0031526	Subretinal fluid	1
HP:0031528	Subretinal deposits	1
HP:0031625	Pseudoaneurysm	1
HP:0031925	Rosette	1
HP:0032118	Retinitis	1
HP:0032154	Aphthous ulcer	1
HP:0032163	Molluscum contagiosum	1
HP:0032201	Rotator cuff tear	1
HP:0032268	Dural tail sign	1
HP:0032303	Lambda Bence Jones proteinuria	1
HP:0032310	Granulocytosis	1
HP:0032323	Periodic fever	1
HP:0032448	Achlorhydria	1
HP:0040049	Macular edema	1
HP:0040141	Tardive dyskinesia	1
HP:0040186	Maculopapular exanthema	1
HP:0040223	Pulmonary hemorrhage	1
HP:0040270	Impaired glucose tolerance	1
HP:0040276	Adenocarcinoma of the colon	1
HP:0100001	Malignant mesothelioma	1
HP:0100026	Arteriovenous malformation	1
HP:0100309	Subdural hemorrhage	1
HP:0100502	Vitamin B12 deficiency	1
HP:0100519	Anuria	1
HP:0100614	Myositis	1
HP:0100665	Angioedema	1
HP:0100724	Hypercoagulability	1
HP:0100753	Schizophrenia	1
HP:0100754	Mania	1
HP:0100774	Hyperostosis	1
HP:0200025	Mandibular pain	1
HP:0200039	Pustule	1
HP:0200114	Metabolic alkalosis	1
HP:0200119	Acute hepatitis	1
HP:0200128	Biventricular hypertrophy	1
HP:0410017	Otitis externa	1
HP:0500008	Cornea verticillata	1

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
CCND1	cyclin D1	595