immunoglobulin heavy constant gamma 1 N-glycosylated 40 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 48 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 30 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 47 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 51 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 5 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 21 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 52 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 33 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 25 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 17 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 34 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 14 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 18 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 7 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 6 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 8 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 16 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 44 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 35 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 13 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 23 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 50 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 36 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 37 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 3 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 9 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 31 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 20 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 11 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 22 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 28 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 46 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 24 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 43 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 42 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 49 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 2 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 27 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 19 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 15 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 4 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 1 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 45 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 26 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 41 (human)


immunoglobulin heavy constant gamma 1 N-glycosylated 12 (human)


eIF-2-alpha kinase GCN2 isoform h1 (human)


sparse hair-short stature-skin anomalies syndrome

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


Grade 5 Hematosalpinx, CTCAE

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 (human)


serine/threonine-protein kinase Nek2 isoform h3 (human)


Myeloblasts 20 Percent or More of Peripheral Blood White Cells


Blasts 10 Percent or More of Peripheral Blood White Cells


Blasts 20 Percent or More of Peripheral Blood White Cells


Blasts 60 Percent or More of Peripheral Blood White Cells


Blasts More than 60 Percent of Peripheral Blood White Cells


Blasts More than 20 Percent of Peripheral Blood White Cells


Blasts 20-30 Percent of Peripheral Blood White Cells


Lymphoblasts 20 Percent or More of Peripheral Blood White Cells


Blasts More than 10 Percent of Peripheral Blood White Cells


Myeloblasts 10 Percent or More of Peripheral Blood White Cells


sodium- and chloride-dependent GABA transporter 1 isoform 1 (rat)


Patchy demyelination of subcortical white matter


Symmetrical progressive peripheral demyelination


Diffuse demyelination of the cerebral white matter


Spinal cord posterior columns myelin loss


Severe demyelination of the white matter


vitamin K-dependent protein C N-glycosylated 25 (human)


Gallbladder Undifferentiated Carcinoma, Spindle and Giant Cell Type


Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 5 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 2 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 4 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 3 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Chronic active Epstein-Barr virus infection


chondrodysplasia punctata, brachytelephalangic, autosomal


autosomal dominant chondrodysplasia punctata


chondrodysplasia punctata, tibial-metacarpal type


Broad proximal phalanx of the 3rd finger


Broad proximal phalanx of the 4th finger


Broad proximal phalanx of the 5th finger


Expanded phalanges with widened medullary cavities


Broad proximal phalanx of the 2nd finger


solute carrier family 2, facilitated glucose transporter member 2 isoform h2 (human)


malignant thyroid stimulating hormone producing neoplasm of pituitary gland


Stage II Acral Lentiginous Melanoma AJCC v6 and v7


cyclin-dependent kinase 8 isoform 1 (human)


serine/threonine-protein kinase tousled-like 1 isoform 1 (human)


progressive relapsing multiple sclerosis


Cutaneous stenosis of the external auditory canal


Metastatic Malignant Neoplasm to the Thyroid


Secondary malignant neoplasm of parathyroid gland


Metastatic malignant neoplasm to nasopharynx


Metastatic malignant neoplasm to oropharynx


Secondary malignant neoplasm of hypopharynx


Neck Squamous Cell Carcinoma of Unknown Primary


Recurrent Neck Squamous Cell Carcinoma of Unknown Primary


Amyotrophy of the musculature of the pelvis


Stage IV Major Salivary Gland Carcinoma with Metastasis


Pathologic Stage IVB Gastroesophageal Junction Adenocarcinoma AJCC v8


Gastroesophageal Junction Adenocarcinoma by AJCC v8 Pathologic Stage


Pathologic Stage IIIB Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIIA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IV Gastroesophageal Junction Adenocarcinoma AJCC v8


Pathologic Stage IB Gastroesophageal Junction Adenocarcinoma AJCC v8


Refractory High Grade Burkitt-Like Lymphoma


Recurrent High Grade Burkitt-Like Lymphoma


Stage II High Grade Adult Non-Hodgkin's Lymphoma


Stage II High Grade Burkitt-Like Lymphoma


High Grade B-Cell Non-Hodgkin's Lymphoma


Stage I High Grade Burkitt-Like Lymphoma


Recurrent High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Adult Non-Hodgkin's Lymphoma


Stage IV High Grade Burkitt-Like Lymphoma


Stage III High Grade Adult Non-Hodgkin's Lymphoma


Stage I High Grade Adult Non-Hodgkin's Lymphoma


Stage III High Grade Burkitt-Like Lymphoma


Patchy sclerosis of the proximal phalanx of the 3rd toe


Stage IVB Esophageal Squamous Cell Carcinoma


sodium/nucleoside cotransporter 1 isoform h2 (human)


short transient receptor potential channel 6 isoform h1 (human)


short transient receptor potential channel 6


short transient receptor potential channel 6 isoform h3 (human)


short transient receptor potential channel 6 N-glycosylated 2 (human)


short transient receptor potential channel 6 N-glycosylated 1 (human)


short transient receptor potential channel 6 isoform h2 (human)


Hodgkin lymphoma, nodular sclerosis, cellular phase


troponin C, slow skeletal and cardiac muscles isoform 1 (human)


Unresectable Cervical Adenosquamous Carcinoma


splicing factor 3B subunit 3 isoform h3 (human)


Recurrent Lung Carcinoma Cell Type Unspecified


Recurrent Lung Non-Small Cell Squamous Carcinoma


Recurrent Lung Non-Squamous Non-Small Cell Carcinoma


Adenosquamous cell lung cancer recurrent


Recurrent Extensive Stage Lung Small Cell Carcinoma


Non-Neoplastic Chronic Lower Respiratory System Disorder


vulvar proximal-type epithelioid sarcoma


Decreased renal tubular phosphate excretion


DNA polymerase beta unacetylated 1 (human)


delta-type opioid receptor isoform 1 (rat)


Testicular Diffuse Large B-Cell Lymphoma


Testicular Nasal Type Extranodal NK/T-Cell Lymphoma


Pancreatic Somatostatin-Producing Neuroendocrine Tumor


major salivary gland carcinoma ex pleomorphic adenoma


Recurrent Parotid Gland Adenoid Cystic Carcinoma


Stage IV Major Salivary Gland Carcinoma without Metastasis


Submandibular Gland Squamous Cell Carcinoma


Stage IVC Major Salivary Gland Cancer AJCC v8


Recurrent Submandibular Gland Undifferentiated Carcinoma


mucoepidermoid carcinoma of submandibular gland


Recurrent Submandibular Gland Acinic Cell Carcinoma


Stage III Major Salivary Gland Cancer AJCC v7


Stage IV Major Salivary Gland Cancer AJCC v8


Submandibular Gland Acinic Cell Carcinoma


Submandibular Gland Undifferentiated Carcinoma


Major Salivary Gland Cancer by AJCC v8 Stage


Stage I Major Salivary Gland Cancer AJCC v7


Stage IVA Major Salivary Gland Cancer AJCC v7


Recurrent Submandibular Gland Mucoepidermoid Carcinoma


Recurrent Parotid Gland Carcinoma ex Pleomorphic Adenoma


Stage II Major Salivary Gland Cancer AJCC v8


Stage IVB Major Salivary Gland Cancer AJCC v8


Recurrent Parotid Gland Squamous Cell Carcinoma


Recurrent Submandibular Gland Squamous Cell Carcinoma


Stage IVA Major Salivary Gland Cancer AJCC v8


Stage 0 Major Salivary Gland Cancer AJCC v8


Major Salivary Gland Squamous Cell Carcinoma


Recurrent Parotid Gland Mucoepidermoid Carcinoma


major salivary gland mucoepidermoid carcinoma


Recurrent Parotid Gland Acinic Cell Carcinoma


major salivary gland adenoid cystic carcinoma


Major Salivary Gland Cancer by AJCC v7 Stage


Submandibular Gland Carcinoma ex Pleomorphic Adenoma


Major Salivary Gland Acinic Cell Carcinoma


mucoepidermoid carcinoma of parotid gland


parotid gland carcinoma ex pleomorphic adenoma


Stage IV Major Salivary Gland Cancer AJCC v7


Recurrent Submandibular Gland Carcinoma ex Pleomorphic Adenoma


Stage I Major Salivary Gland Cancer AJCC v8


Parotid Gland Undifferentiated Carcinoma


Recurrent Submandibular Gland Adenoid Cystic Carcinoma


Stage III Major Salivary Gland Cancer AJCC v8


Stage IVC Major Salivary Gland Cancer AJCC v7


Stage II Major Salivary Gland Cancer AJCC v7


Recurrent Parotid Gland Undifferentiated Carcinoma


submandibular gland adenoid cystic carcinoma


Stage IVB Major Salivary Gland Cancer AJCC v7


AIDS-Related Plasmablastic Lymphoma of the Oral Mucosa


AIDS-Related Plasmablastic Lymphoma of Mucosa Site


Plasmablastic Lymphoma of the Oral Mucosa


localized junctional epidermolysis bullosa, non-Herlitz type


junctional epidermolysis bullosa, non-Herlitz type


generalized junctional epidermolysis bullosa non-Herlitz type


carbonic anhydrase 1, initiator methionine removed form (human)


ephrin type-B receptor 4 isoform h2 (human)


Abnormal circulating gastrin concentration


liver inflammatory myofibroblastic tumor


sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 13 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 15 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 12 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 10 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 14 (human)


sex hormone-binding globulin isoform, signal peptide removed glycosylated 11 (human)


phosphoenolpyruvate carboxykinase deficiency, cytosolic


Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion


Epstein-Barr virus-associated gastric carcinoma


Low Grade Pancreatic Intraepithelial Neoplasia


Grade 3 Major Visceral Artery Intra-Operative Injury, CTCAE


Grade 3 Neonatal Administration Site Complication, AE


Neonatal Administration Site Complication, AE


Grade 2 Neonatal Administration Site Complication, AE


Grade 5 Neonatal Administration Site Complication, AE


Grade 4 Neonatal Administration Site Complication, AE


Grade 1 Neonatal Administration Site Complication, AE


Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm


serine/threonine-protein kinase 26 isoform h2 (human)


Retinal detachments and defects, unspecified


chromosome 4Q32.1-q32.2 triplication syndrome


partial duplication of the long arm of chromosome 4


tubulointerstitial kidney disease, autosomal dominant, 2


Pauci-Immune Glomerulonephritis - Renal Limited


Chronic kidney disease due to hypertension


Nephrotic Syndrome - Simian Virus 40 Associated


Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease


Nephrotic Syndrome - Human Immunodeficiency Virus Associated


Nephrotic syndrome with lesion of proliferative glomerulonephritis


Congenital Nephrotic Syndrome - Rubivirus Associated


Nephrotic Syndrome - Infection Associated


Nephrotic Syndrome - SMARCAL1 Associated


Glomerulopathy with Fibronectin Deposits-2


Acute renal papillary necrosis with renal failure


Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis


Chronic glomerulonephritis with lesion of membranous glomerulonephritis


Membranous Nephropathy - Autoimmune Disorder Associated


Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis


Systemic Lupus Erythematosus Nephritis Class V


Chronic Kidney Disease due to Diabetes Mellitus


Chemotherapeutic Drug - Induced Nephropathy


Nephrotic Syndrome with Lesion of Persistent Glomerulonephritis


Systemic Lupus Erythematosus Nephritis Class IV G


Nephrotic Syndrome - ARHGAP24 Associated


Calcineurin Inhibitor - Induced Nephropathy


Congenital Nephrotic Syndrome - Cytomegalovirus Associated


Light Chain Proximal Tubulopathy without Crystals


familial juvenile hyperuricemic nephropathy type 1


Nephrotic Syndrome - Toxoplasmosis Associated


Nephrotic Syndrome - Syphilis Associated


C3 Glomerulopathy with Monoclonal Gammopathy


Systemic Lupus Erythematosus Nephritis Class IV S


Congenital Nephrotic Syndrome - Toxoplasma Associated


Membranous Nephropathy - Malignancy Associated


Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis


Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis


Nephrotic Syndrome - Frequently Relapsing


Nephrotic Syndrome - Infrequently Relapsing


Nephrotic Syndrome - Hepatitis B Virus Associated


nephrotic syndrome of childhood - steroid sensitive


Nephropathy Associated with Rhabdomyolysis


Primary Focal Segmental Glomerulosclerosis


autosomal recessive polycystic kidney disease


Nephrotic Syndrome - Cytomegalovirus Associated


Secondary focal segmental glomerulosclerosis


Congenital Nephrotic Syndrome - Treponema Pallidum Associated


Focal Segmental Glomerulosclerosis Collapsing Variant


Focal Segmental Glomerulosclerosis Cellular Variant


Membranous Nephropathy - Drug Associated


Focal AND segmental proliferative glomerulonephritis


Chronic glomerulonephritis with lesion of proliferative glomerulonephritis


Proliferative Glomerulonephritis with Monoclonal IgG Deposits


Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis


IgA nephropathy associated with liver disease


Nephrotic Syndrome - Parvovirus B19 Associated


Nephrotic Syndrome - Epstein-Barr Virus Associated


congenital nephrotic syndrome, Finnish type


Pauci-Immune Glomerulonephritis - ANCA Negative


Nephrotic Syndrome-Remission, Partial Remission


Nephrotic Syndrome - Hepatitis C Virus Associated


Focal Segmental Glomerulosclerosis, Not Otherwise Specified


Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis


Congenital Nephrotic Syndrome - Infection Associated


Type I Cryoglobulinemic Glomerulonephritis


Focal Segmental Glomerulosclerosis Tip Lesion Variant


Focal Segmental Glomerulosclerosis Perihilar Variant


Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis


Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis


Nephrotic Syndrome with Lesion of Segmental Hyalinosis


sessile serrated polyposis cancer syndrome


squamous cell carcinoma of buccal mucosa


extrahepatic bile duct adenosquamous carcinoma


nodular regenerative hyperplasia of the liver


carcinoma of esophagus, salivary gland type


pancreatic delta cell neuroendocrine tumor


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


hereditary neuroendocrine tumor of small intestine


small intestinal neuroendocrine tumor G1


classic neuroendocrine tumor of appendix


diabetes mellitus, noninsulin-dependent, 5


carcinoma of stomach, salivary gland type


cholestasis, progressive familial intrahepatic, 6


digestive system neuroendocrine tumor, grade 1/2


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia


pancreatic acinar cell cystadenocarcinoma


maturity-onset diabetes of the young type 14


maturity-onset diabetes of the young type 9


autoimmune disorder of gastrointestinal tract


acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome


pyloric stenosis, infantile hypertrophic, 1


breast mucosa-associated lymphoid tissue lymphoma


colorectal cancer, hereditary nonpolyposis, type 5


diarrhea 10, protein-losing enteropathy type


congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


malignant neoplasm of thoracic esophagus


short fifth metacarpals-insulin resistance syndrome


colon small cell neuroendocrine carcinoma


congenital enterocyte heparan sulfate deficiency


carcinoma of liver and intrahepatic biliary tract


calcifying nested epithelial stromal tumor of the liver


polycystic liver disease 3 with or without kidney cysts


VACTERL association, X-linked, with or without hydrocephalus


primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


diabetes mellitus, noninsulin-dependent, 3


extrahepatic bile duct papillary adenoma


colorectal gastrointestinal stromal tumor


perinatal jaundice due to hepatocellular damage


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome


intractable diarrhea-choanal atresia-eye anomalies syndrome


functional pancreatic neuroendocrine tumor


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


pancreatic gastrin-producing neuroendocrine tumor


extrahepatic bile duct small cell adenocarcinoma


solid pseudopapillary neoplasm of the pancreas


hyperinsulinism due to glucokinase deficiency


papillary extrahepatic bile duct adenocarcinoma


ampulla of vater clear cell adenocarcinoma


gallbladder pleomorphic giant cell adenocarcinoma


cystic fibrosis associated meconium ileus


maturity-onset diabetes of the young type 1


growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy


cholestasis, progressive familial intrahepatic, 9


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia


squamous cell carcinoma of the oral tongue


submucosal invasive colon adenocarcinoma


disorder of lipid absorption and transport


congenital sucrase-isomaltase deficiency without sucrose intolerance


small intestinal diffuse large B-cell lymphoma


Rokitansky-Aschoff sinuses of the gallbladder


neuroendocrine tumor of rectum, well differentiated, low or intermediate grade


AXIN2-related attenuated familial adenomatous polyposis


biliary atresia intrahepatic non syndromic form


visceral neuropathy, familial, 1, autosomal recessive


non-functional pancreatic neuroendocrine tumor


idiopathic malabsorption due to bile acid synthesis defects


thiamine-responsive megaloblastic anemia syndrome


adenocarcinoma of gallbladder and extrahepatic biliary tract


ampullary signet ring cell adenocarcinoma


syndromic multisystem autoimmune disease due to ITCH deficiency


hyperinsulinemic hypoglycemia, familial, 2


MSH3-related attenuated familial adenomatous polyposis


pancreatic triacylglycerol lipase deficiency


extrahepatic bile duct mucinous adenocarcinoma


congenital generalized lipodystrophy type 4


congenital secretory chloride diarrhea 1


combined immunodeficiency due to LRBA deficiency


polycystic liver disease 4 with or without kidney cysts


salivary gland basal cell adenocarcinoma


cholestasis, progressive familial intrahepatic, 10


combined pancreatic lipase-colipase deficiency


squamous cell carcinoma of floor of mouth


maturity-onset diabetes of the young type 7


early-onset familial noncirrhotic portal hypertension


embryonal extrahepatic bile duct rhabdomyosarcoma


Hirschsprung disease-type D brachydactyly syndrome


congenital sucrase-isomaltase deficiency with starch intolerance


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


pancreatic non-functioning delta cell tumor


pyloric stenosis, infantile hypertrophic, 5


gallbladder signet ring cell adenocarcinoma


colon mucosa-associated lymphoid tissue lymphoma


undifferentiated embryonal sarcoma of the liver


cryptogenic multifocal ulcerous stenosing enteritis


extrahepatic bile duct clear cell adenocarcinoma


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade


inflammatory skin and bowel disease, neonatal, 2


diarrheal disease secondary to altered bowel motility


gastric enterochromaffin cell serotonin-producing neuroendocrine tumor


thyroid gland mucosa-associated lymphoid tissue lymphoma


colonic L-cell glucagon-like peptide producing tumor


maturity-onset diabetes of the young type 8


carcinoma of gallbladder and extrahepatic biliary tract


maturity-onset diabetes of the young type 10


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


TRIM22-related inflammatory bowel disease


progressive encephalomyelitis with rigidity and myoclonus


malignant neoplasm of cervical esophagus


maxillary sinus adenoid cystic carcinoma


IL21-related infantile inflammatory bowel disease


diabetes mellitus, transient neonatal, 2


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


cholestasis, progressive familial intrahepatic, 11


cholestasis, progressive familial intrahepatic, 4


classic or attenuated familial adenomatous polyposis


cholestasis, intrahepatic, of pregnancy, 3


splenic diffuse red pulp small B-cell lymphoma


carcinoma in situ of extrahepatic bile duct


ileal neuroendocrine tumor, well differentiated, low or intermediate grade


diarrheal disease secondary to increased bowel motility


pyloric stenosis, infantile hypertrophic, 2


neonatal ichthyosis-sclerosing cholangitis syndrome


small intestinal mucosa-associated lymphoid tissue lymphoma


glycogen storage disease due to liver phosphorylase kinase deficiency


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


pancreatic ACTH-producing neuroendocrine tumor


congenital enteropathy involving intestinal mucosa development


benign recurrent intrahepatic cholestasis type 2


colorectal cancer, hereditary nonpolyposis, type 6


maturity-onset diabetes of the young type 11


Alagille syndrome due to a JAG1 point mutation


squamous cell carcinoma of gallbladder and extrahepatic biliary tract


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


Alagille syndrome due to a NOTCH2 point mutation


colorectal cancer, hereditary nonpolyposis, type 8


ampulla of vater squamous cell carcinoma


transient infantile hypertriglyceridemia and hepatosteatosis


cholestasis, intrahepatic, of pregnancy, 1


minor salivary gland adenoid cystic carcinoma


chronic intestinal vascular insufficiency


Plasmodium falciparum fever episodes quantitative trait locus 1


salivary gland epithelial myoepithelial carcinoma


pancreatic carcinoma with mixed differentiation


jejunal neuroendocrine tumor, well differentiated, low or intermediate grade


ampulla of vater small cell neuroendocrine carcinoma


undifferentiated pancreatic carcinoma with osteoclast-like giant cells


pyloric stenosis, infantile hypertrophic, 3


autosomal dominant hyperinsulinism due to SUR1 deficiency


hepatic veno-occlusive disease-immunodeficiency syndrome


sublingual gland adenoid cystic carcinoma


pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia


growth retardation-mild developmental delay-chronic hepatitis syndrome


generalized juvenile polyposis/juvenile polyposis coli


colorectal cancer, hereditary nonpolyposis, type 2


small intestinal L-cell glucagon-like peptide producing tumor


congenital sucrase-isomaltase deficiency with minimal starch tolerance


familial gastric type 1 neuroendocrine tumor


colorectal sessile serrated adenoma/polyp


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor


splenic manifestation of hairy cell leukemia


maturity-onset diabetes of the young type 3


colorectal cancer, hereditary nonpolyposis, type 4


palmoplantar keratoderma-esophageal carcinoma syndrome


multisystemic smooth muscle dysfunction syndrome


progressive familial intrahepatic cholestasis type 1


colorectal diffuse large B-cell lymphoma


digestive system mixed adenoneuroendocrine carcinoma


pancreatic insulin-producing neuroendocrine tumor


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome


duodenal gastrin-producing neuroendocrine tumor


APC-related attenuated familial adenomatous polyposis


megacystis-microcolon-intestinal hypoperistalsis syndrome 1


extrahepatic bile duct squamous cell carcinoma


L-cell glucagon-like peptide-producing neuroendocrine tumor


hyperinsulinemic hypoglycemia, familial, 4


malignant neoplasm of abdominal esophagus


diabetes mellitus, transient neonatal, 1


malignant tumor of extrahepatic bile duct


maturity-onset diabetes of the young type 2


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


cystic fibrosis-gastritis-megaloblastic anemia syndrome


maturity-onset diabetes of the young type 13


fibrohistiocytic inflammatory pseudotumor of the liver


digestive system neuroendocrine neoplasm


intrahepatic bile duct adenosquamous carcinoma


isolated neonatal sclerosing cholangitis


progressive familial intrahepatic cholestasis type 2


pancreatic intraductal papillary-mucinous neoplasm


autosomal recessive hyperinsulinism due to SUR1 deficiency


PLIN1-related familial partial lipodystrophy


small intestinal enteropathy-associated T-cell lymphoma


cholestasis, progressive familial intrahepatic, 5


inflammatory skin and bowel disease, neonatal, 1


maternally-inherited diabetes and deafness


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


diabetes mellitus, noninsulin-dependent, 4


cholestasis, progressive familial intrahepatic, 8


gastric neuroendocrine tumor, well differentiated, low or intermediate grade


squamous cell carcinoma of the small intestine


gallbladder small cell neuroendocrine carcinoma


visceral neuropathy, familial, 3, autosomal dominant


solid pseudopapillary carcinoma of pancreas


lymphoplasmacytic inflammatory pseudotumor of the liver


pyloric stenosis, infantile hypertrophic, 4


signet ring cell intrahepatic cholangiocarcinoma


Polymerase proofreading-related adenomatous polyposis


attenuated familial adenomatous polyposis


gastric small cell neuroendocrine carcinoma


diarrheal disease secondary to decreased bowel motility


extrahepatic bile duct signet ring cell carcinoma


gallbladder neuroendocrine tumor, grade 1/2


small intestine neuroendocrine tumor, well differentiated, low or intermediate grade


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


pancreatic lipomatosis duodenal stenosis


pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma


familial adenomatous polyposis due to 5q22.2 microdeletion


maturity-onset diabetes of the young type 6


chronic enteropathy associated with SLCO2A1 gene


autosomal dominant hyperinsulinism due to Kir6.2 deficiency


chronic atrial and intestinal dysrhythmia


adenocarcinoma of liver and intrahepatic biliary tract


ampulla of vater adenosquamous carcinoma


Hirschsprung disease-hearing loss-polydactyly syndrome


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


short stature, microcephaly, and endocrine dysfunction


mixed fibrolamellar hepatocellular carcinoma


progressive familial intrahepatic cholestasis type 3


transient familial neonatal hyperbilirubinemia


congenital diarrhea 7 with exudative enteropathy


congenital diarrhea 5 with tufting enteropathy


diffuse cavernous hemangioma of the rectum


congenital enteropathy due to enteropeptidase deficiency


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


pancreatic non-invasive mucinous cystadenocarcinoma


low phospholipid associated cholelithiasis


gastric mucosa-associated lymphoid tissue lymphoma


appendix L-cell glucagon-like peptide-producing neuroendocrine tumor


pancreatic small cell neuroendocrine carcinoma


pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma


ampulla of vater mucinous adenocarcinoma


intestinal disease due to fat malabsorption


pancreatic vasoactive intestinal peptide producing tumor


gallbladder papillary neoplasm with an associated invasive carcinoma


salivary gland carcinoma ex pleomorphic adenoma


autosomal semi-dominant severe lipodystrophic laminopathy


small intestinal vasoactive intestinal peptide producing tumor


splenic manifestation of prolymphocytic leukemia


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


intraductal tubulopapillary neoplasm of pancreas


displacement of cardia through esophageal hiatus


diabetes mellitus, noninsulin-dependent, 2


aplasia cutis congenita-intestinal lymphangiectasia syndrome


pancreatic large cell neuroendocrine carcinoma


acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome


colorectal cancer, hereditary nonpolyposis, type 7


MYO5B-related progressive familial intrahepatic cholestasis


autosomal dominant polycystic liver disease


congenital sucrase-isomaltase deficiency without starch intolerance


pancreatic signet ring cell adenocarcinoma


combined hepatocellular carcinoma and cholangiocarcinoma


bile duct mucinous cystic neoplasm with an associated invasive carcinoma


diabetes mellitus, noninsulin-dependent, 1


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


food protein-induced allergic proctocolitis


Moyamoya disease with early-onset achalasia


extrahepatic bile duct mucoepidermoid carcinoma


congenital sucrase-isomaltase deficiency with starch and lactose intolerance


neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor


intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome


intestinal disease due to vitamin absorption anomaly


neonatal diabetes mellitus with congenital hypothyroidism


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


neonatal inflammatory skin and bowel disease


gallbladder biliary intraepithelial neoplasia


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


squamous cell carcinoma of liver and intrahepatic biliary tract


mixed ductal-endocrine carcinoma of pancreas


porphyria due to ALA dehydratase deficiency


osteoclastic giant cell tumor of pancreas


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency


proton-pump inhibitor-responsive esophageal eosinophilia


diabetes mellitus, transient neonatal, 3


hereditary diffuse gastric adenocarcinoma


gastric gastrin-producing neuroendocrine tumor


chronic diarrhea due to glucoamylase deficiency


biliary atresia intrahepatic syndromic form


pancreatic intraductal papillary-mucinous carcinoma


intrauterine growth restriction-short stature-early adult-onset diabetes syndrome


benign recurrent intrahepatic cholestasis type 1


hereditary North American Indian childhood cirrhosis


microcephalic primordial dwarfism-insulin resistance syndrome


maturity-onset diabetes of the young type 4


primary microcephaly-mild intellectual disability-young-onset diabetes syndrome


Alagille syndrome due to 20p12 microdeletion


undifferentiated carcinoma of liver and intrahepatic biliary tract


small intestinal intraepithelial neoplasia


cutaneous photosensitivity-lethal colitis syndrome


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


benign recurrent intrahepatic cholestasis


Lugano Classification Stage IV Adult Non-Hodgkin Lymphoma AJCC v8


two pore channel protein 1 isoform h1 (human)


signal transducer and activator of transcription 5A isoform h2 (human)


signal transducer and activator of transcription 5a


signal transducer and activator of transcription 5A phosphorylated 1 (human)


signal transducer and activator of transcription 5A isoform h1 (human)


benign peripheral nerve granular cell tumor


vitamin K-dependent protein C O-glycosylated 2 (human)


sodium channel subunit beta-3, signal peptide removed form (human)


proteasome subunit beta type-5 isoform h3 (human)


phosphatidylethanolamine-binding protein 1 isoform 1 (human)


Decreased circulating calcifediol concentration


Infant-Type Hemispheric Glioma, ROS1-Altered


Grade 5 Intraoperative Ear Injury, CTCAE


Grade 2 Intraoperative Ear Injury, CTCAE


Grade 3 Intraoperative Ear Injury, CTCAE


Grade 4 Intraoperative Ear Injury, CTCAE


Grade 1 Intraoperative Ear Injury, CTCAE


Immature PIT1 Lineage Pituitary Neuroendocrine Tumor


Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation


Locally Advanced Pituitary Neuroendocrine Tumor


Pituitary Neuroendocrine Tumor of PIT1-Lineage


Pituitary Neuroendocrine Tumor of SF1-Lineage


Pituitary Neuroendocrine Tumor, Not Otherwise Specified


growth hormone-producing pituitary gland adenoma


Plurimorphous Plurihormonal Pituitary Gland Adenoma


Densely Granulated Non-Functioning Corticotroph Adenoma


ACTH-producing pituitary gland carcinoma


Non-Functioning Pituitary Gland Macroadenoma


mixed somatotroph-lactotroph pituitary gland adenoma


Functioning Pituitary Gland Macroadenoma


Functioning Pituitary Gland Microadenoma


Recurrent Anterior Pituitary Gland Neoplasm


prolactin-producing pituitary gland carcinoma


growth hormone-producing pituitary gland carcinoma


Monomorphous Plurihormonal Pituitary Gland Adenoma


Acidophil Stem Cell Pituitary Gland Adenoma


Non-Functioning Pituitary Gland Microadenoma


Pituitary Neuroendocrine Tumor of TPIT-Lineage


Unresectable Metastatic Pituitary Neuroendocrine Tumor


Mature Plurihormonal PIT1 Lineage Pituitary Neuroendocrine Tumor


prolactin-producing pituitary gland adenoma


Sparsely Granulated Corticotroph Adenoma


Sparsely Granulated Non-Functioning Corticotroph Adenoma


Pituitary Gland Mixed Gangliocytoma-Adenoma


unexplained long-lasting fever/inflammatory syndrome


Fractured proximal epiphysis of first metacarpal bone


Recurrent Paget Disease of the Anal Canal


tyrosine-protein kinase SYK isoform Short (human)


tyrosine-protein kinase SYK phosphotyrosine form (human)


tyrosine-protein kinase SYK phosphorylated 2 (human)


tyrosine-protein kinase SYK phosphorylated 3 (human)


myeloperoxidase N-glycosylated 8 (human)


Stage II Renal Pelvis and Ureter Cancer AJCC v7


Duane retraction syndrome 3 with or without deafness


ephrin type-A receptor 3, signal peptide removed phosphorylated 1 (human)


moderately-differentiated thymic neuroendocrine carcinoma


hereditary clear cell renal cell carcinoma


female breast lower-outer quadrant cancer


ovarian large-cell neuroendocrine carcinoma


thyroid gland atypical follicular adenoma


oxyphilic endometrial endometrioid adenocarcinoma


cervical large cell neuroendocrine carcinoma


endometrial endometrioid adenocarcinoma with spindled epithelial cells


uterine ligament clear cell adenocarcinoma


endocervical type cervical mucinous adenocarcinoma


non-keratinizing sinonasal squamous cell carcinoma


hypercalcemic type ovarian small cell carcinoma


adenoid basal carcinoma of the cervix uteri


infiltrating renal pelvis/ureter urothelial carcinoma


pulmonary type ovarian small cell carcinoma


ovarian serous surface papillary adenocarcinoma


hereditary papillary renal cell carcinoma


primary intraosseous squamous cell carcinoma


Bartholin gland transitional cell carcinoma


urinary bladder small cell neuroendocrine carcinoma


mucin-rich endometrial endometrioid adenocarcinoma


cervical squamous intraepithelial neoplasia


pituitary gland mixed eosinophil-basophil adenoma


nasal cavity and paranasal sinus squamous cell carcinoma


infiltrating ureter transitional cell carcinoma


partially involuting congenital hemangioma


large cell keratinizing variant squamous cell breast carcinoma


skin fibroepithelial basal cell carcinoma


aggressive digital papillary adenocarcinoma


osteosarcoma arising in bone Paget disease


non-invasive verrucous carcinoma of the penis


adenoid cystic carcinoma of the corpus uteri


paranasal sinus adenoid cystic carcinoma


non-invasive bladder urothelial carcinoma


breast large cell neuroendocrine carcinoma


cervical keratinizing squamous cell carcinoma


squamous cell carcinoma of the corpus uteri


cortisol-producing adrenal cortex adenoma


sarcomatoid penile squamous cell carcinoma


acquired cystic disease-associated renal cell carcinoma


Bartholin gland adenoid cystic carcinoma


estrogen-receptor positive breast cancer


well-differentiated thymic neuroendocrine carcinoma


arteriovenous malformations of the brain


fallopian tube clear cell adenocarcinoma


bladder diffuse clear cell adenocarcinoma


female breast lower-inner quadrant cancer


carcinoma arising in nasal papillomatosis


villoglandular endometrial endometrioid adenocarcinoma


aldosterone-producing adrenal cortex adenoma


thymic large cell neuroendocrine carcinoma


acantholytic variant squamous cell breast carcinoma


human papillomavirus-related squamous cell carcinoma


lacrimal gland carcinoma ex pleomorphic adenoma


pseudovascular skin squamous cell carcinoma


acantholytic squamous cell skin carcinoma


non-invasive bladder papillary urothelial neoplasm


progesterone-receptor negative breast cancer


female breast upper-inner quadrant cancer


thyroid carcinoma, nonmedullary, with or without cell oxyphilia


fallopian tube transitional cell carcinoma


primary peritoneal serous adenocarcinoma


sarcomatoid squamous cell skin carcinoma


angioma serpiginosum, autosomal dominant


transitional cell carcinoma of the corpus uteri


growth hormone-producing pituitary gland neoplasm


low grade vulvar intraepithelial neoplasia


renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions


fallopian tube gestational choriocarcinoma


microinvasive cervical squamous cell carcinoma


intraductal cribriform breast adenocarcinoma


mixed lobular and ductal breast carcinoma


non-papillary transitional cell carcinoma of the bladder


familial papillary thyroid carcinoma with renal papillary neoplasia


MIT family translocation renal cell carcinoma


sex hormone-producing adrenal cortex adenoma


vulvar keratinizing squamous cell carcinoma


cerebrofacial arteriovenous metameric syndrome type 3


progesterone-receptor positive breast cancer


clear cell papillary renal cell carcinoma


primary peritoneal serous/papillary carcinoma


kidney pelvis sarcomatoid transitional cell carcinoma


uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease


estrogen-receptor negative breast cancer


cervical non-keratinizing squamous cell carcinoma


infiltrating renal pelvis transitional cell carcinoma


glycogen-rich clear cell breast carcinoma


poorly differentiated thymic neuroendocrine carcinoma


breast carcinoma by gene expression profile


pituitary adenoma, growth hormone-secreting, 2


ovarian clear cell malignant adenofibroma


cerebrofacial arteriovenous metameric syndrome type 1


fallopian tube endometrioid adenocarcinoma


urinary tract non-invasive transitional cell neoplasm


multilocular clear cell renal cell carcinoma


classic variant of chromophobe renal cell carcinoma


cervical adenosquamous carcinoma, glassy cell variant


human papillomavirus-related penile squamous cell carcinoma


spindle cell variant squamous cell breast carcinoma


growth hormone secreting pituitary adenoma 1


thyroid gland papillary and follicular carcinoma


ovarian endometrioid adenocarcinoma with squamous differentiation


extraovarian Brenner tumor of the vagina


vulvar non-keratinizing squamous cell carcinoma


bladder tubulo-cystic clear cell adenocarcinoma


uterine ligament mucinous adenocarcinoma


acinar prostate adenocarcinoma, foamy gland variant


intestinal variant cervical mucinous adenocarcinoma


malignant adrenal gland pheochromocytoma


nasal cavity and paranasal sinus carcinoma


infantile hemangioma of rare localization


primary intraosseous venous malformation


acinar prostate adenocarcinoma, signet ring variant


lymphedema-posterior choanal atresia syndrome


mixed epithelial/mesenchymal metaplastic breast carcinoma


secretory uterine corpus endometrioid adenocarcinoma


grade III prostatic intraepithelial neoplasia


dermal unilateral segmental cavernous angioma


undifferentiated carcinoma of the corpus uteri


cerebrofacial arteriovenous metameric syndrome


cervical mucinous adenocarcinoma, minimal deviation variant


nasopharyngeal type undifferentiated carcinoma


renal cell carcinoma associated with neuroblastoma


renal pelvis papillary urothelial carcinoma


signet ring cell variant cervical mucinous adenocarcinoma


female breast upper-outer quadrant cancer


renal pelvis/ureter urothelial carcinoma


bladder papillary clear cell adenocarcinoma


paranasal sinus mucoepidermoid carcinoma


ductal breast carcinoma in situ and lobular carcinoma in situ


metastatic carcinoma in the adrenal medulla


childhood adrenal gland pheochromocytoma


mucinous tubular and spindle renal cell carcinoma


normal breast-like subtype of breast carcinoma


eosinophilic variant of chromophobe renal cell carcinoma


lip and oral cavity squamous cell carcinoma


uterine ligament endometrioid adenocarcinoma


rapidly involuting congenital hemangioma


Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis


Pseudoepiphysis of the proximal phalanx of the 4th toe


NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human)


NAD(P)H dehydrogenase [quinone] 1 isoform 1 acetylated 1 (human)


dual specificity mitogen-activated protein kinase kinase 5 isoform A (human)


Metastatic Ovarian Serous Adenocarcinoma


Unresectable Ovarian Serous Adenocarcinoma


Unresectable Ovarian High Grade Serous Adenocarcinoma


high grade serous adenocarcinoma of ovary


Refractory Ovarian Low Grade Serous Adenocarcinoma


Locally Advanced Ovarian Serous Adenocarcinoma


low grade serous adenocarcinoma of ovary


Recurrent Ovarian High Grade Serous Adenocarcinoma


Metastatic Ovarian Serous Cystadenocarcinoma


Recurrent Ovarian Low Grade Serous Adenocarcinoma


Advanced Ovarian Serous Cystadenocarcinoma


Locally Advanced Ovarian Serous Cystadenocarcinoma


Refractory Ovarian High Grade Serous Adenocarcinoma


Refractory Ovarian Serous Adenocarcinoma


Metastatic Ovarian High Grade Serous Adenocarcinoma


Recurrent Ovarian Serous Cystadenocarcinoma


Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma


Decreased VLDL cholesterol concentration


mitochondrial complex III deficiency nuclear type 8


Stage IIB Pancreatic Cancer AJCC v6 and v7


serine/threonine-protein kinase PAK 3 isoform 2 (human)


Abnormal timing of dark-adapted dim flash electroretinogram


Supernormal dark-adapted bright flash electroretinogram b-wave


autosomal recessive pericentral pigmentary retinopathy


Increased vertical cup-to-disc ratio - 0.6


Abnormal amplitude of flash visual evoked potentials


Abnormal best corrected visual acuity test


Congenital stationary night blindness with normal fundus


Congenital hypertrophy of retinal pigment epithelium


Abnormal amplitude of pattern reversal visual evoked potentials


Intraretinal hyporeflective spaces on macular OCT


Grouped congenital hypertrophy of retinal pigment epithelium


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Abnormal amplitude of light-adapted flicker electroretinogram


Abnormal fundus autofluorescence imaging


Abnormal medial rectus muscle physiology


Foveal photoreceptor outer segment loss on macular OCT


Abnormal Humphrey SITA 30-2 perimetry test


Ultra-low vision with no light perception


Increased vertical cup-to-disc ratio - 0.9


Abnormality of pattern onset/offset visual evoked potentials


Photoreceptor outer segment loss on macular OCT


Abnormal timing of pattern onset/offset visual evoked potentials


Compensatory head tilt to the right shoulder


familial congenital nasolacrimal duct obstruction


Abnormal dark-adapted bright flash electroretinogram


Abnormal amplitude of dark-adapted dim flash electroretinogram


Abnormal inferior rectus muscle physiology


Very severe constriction of peripheral visual field


Chaotic rapid conjugate ocular movements


Patchy atrophy of the retinal pigment epithelium


Abnormal superior oblique muscle physiology


Abnormal foveal morphology on macular OCT


Abnormal automated kinetic perimetry test


Abnormality of the curvature of the cornea


Abnormality of pattern visual evoked potentials


Abnormal central response of multifocal electroretinogram


Age-related posterior subcapsular cataract


Subretinal hyporeflective spaces on macular OCT


Undetectable light- and dark-adapted electroretinogram


Restrictive partial external ophthalmoplegia


Solitary congenital hypertrophy of retinal pigment epithelium


Abnormality morphology of the macular vasculature


Asymmetrical distribution of pattern reversal visual evoked potentials


Increased vertical cup-to-disc ratio - 0.7


Mild constriction of peripheral visual field


Anterior synechiae of the anterior chamber


Abnormal timing of flash visual evoked potentials


Abnormal P50/N95 ratio of pattern electroretinogram


Abnormal static automated perimetry test


Foveal photoreceptor layer loss on macular OCT


Reduced number of corneal endothelial cells


Increased vertical cup-to-disc ratio - 1.0


posterior polymorphous corneal dystrophy 1


Central fundal arteriolar microaneurysms


Abnormal confrontational visual field test


Asymmetrical distribution of flash visual evoked potentials


Abnormal inferior oblique muscle physiology


persistent hyperplastic primary vitreous


Abnormal amplitude of dark-adapted bright flash electroretinogram


Complete congenital stationary night blindness


Hyaloid vascular remnant and retrolental mass


Abnormal dark-adapted dim flash electroretinogram


Abnormal light-adapted single flash electroretinogram


Pigment deposition in the trabecular meshwork


Abnormal amplitude of pattern onset/offset visual evoked potentials


Retinal pigment epithelial loss on macular OCT


Peripheral tractional retinal detachment


Abnormal morphology of the choroidal vasculature


Visual acuity light perception with projection


Juvenile posterior subcapsular lenticular opacities


Abnormal lateral rectus muscle physiology


Decreased Arden ratio of electrooculogram


Abnormal morphology of the conjunctival vasculature


Abnormal vertical rectus muscle physiology


Leakage of dye on fundus fluorescein angiography


Moderate constriction of peripheral visual field


Globe retraction and deviation on abduction


Incomplete congenital stationary night blindness


Abnormal retinal nerve fiber layer morphology


Amyloid deposition in the vitreous humor


Abnormal Humphrey SITA 10-2 perimetry test


Abnormal superior rectus muscle physiology


combined hamartoma of the retina and retinal pigment epithelium


Decreased light- and dark-adapted electroretinogram amplitude


Extension of eyebrows towards upper eyelid


benign concentric annular macular dystrophy


Foveal hyporeflective spaces on macular OCT


Difficulty adjusting to changes in luminance


Abnormal amplitude of light-adapted single flash electroretinogram


Foveal intraretinal hyporeflective spaces on macular OCT


Posterior corneal stroma punctiform multicolored opacities


Abnormality of chorioretinal pigmentation


Abnormal light-adapted flicker electroretinogram


Aplasia/Hypoplasia affecting the anterior segment of the eye


Visual acuity light perception without projection


Optic atrophy from cranial nerve compression


Foveal retinal pigment epithelial loss on macular OCT


Ultra-low vision with retained light projection


congenital fibrosis of extraocular muscles


Abnormal timing of pattern electroretinogram


Central retinal vessel vascular tortuosity


Nonprogressive restrictive external ophthalmoplegia


ankyloblepharon filiforme adnatum-cleft palate syndrome


Ultra-low vision with retained light perception


Multiple bilateral congenital hypertrophy of retinal pigment epithelium


Abnormal light- and dark-adapted electroretinogram


Compensatory head tilt to the left shoulder


Abnormal posterior eye segment morphology


Abnormal Vistech contrast sensitivity test


Increased Arden ratio of electrooculogram


Abnormal Humphrey SITA 24-2 perimetry test


Abnormal timing of light-adapted single flash electroretinogram


Abnormal suspensory ligament of lens morphology


Irregular central macular autofluorescence


Abnormal migration of corneal endothelium


Posterior crocodile shagreen of the cornea


Abnormal anterior eye segment morphology


Abnormal distribution of retinal arterioles and venules


Increased vertical cup-to-disc ratio - 0.8


Foveal inner retinal layer loss on macular OCT


Impaired pursuit initiation and maintenance


Abnormality of pattern reversal visual evoked potentials


Foveal subretinal hyporeflective spaces on macular OCT


Increased OCT-measured macular thickness


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave


Small yellow foveal lesion with surrounding gray zone


Abnormal horizontal rectus muscle physiology


Congenital stationary night blindness with abnormal fundus


Severe constriction of peripheral visual field


Abnormal amplitude of pattern electroretinogram


Ultra-low vision with retained motion projection


Abnormal timing of light-adapted flicker electroretinogram


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Subretinal pigment epithelium hemorrhage


Perifoveal ring of hyperautofluorescence


Abnormal paracentral response of multifocal electroretinogram


Abnormal timing of pattern reversal visual evoked potentials


Abnormal timing of dark-adapted bright flash electroretinogram


Glial remnants anterior to the optic disc


Abnormal Pelli Robson contrast sensitivity chart test


Abnormality of the vasculature of the eye


Iridescent posterior subcapsular cataract


non-arteritic anterior ischemic optic neuropathy


procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h2 (human)


Small Intestinal High Grade B-Cell Lymphoma, Not Otherwise Specified


Anti-nucleolus-organizing region antibody positivity


Renal arteriolar lumen organized thrombi


Abnormality of the distal femoral epiphysis


Decreased circulating fetuin A concentration


Abnormal cortical peritubular capillary lumen morphology


Abnormal circulating tyrosine concentration


Subtentorial periventricular white matter hyperdensity


Absence of secondary sex characteristics


Symphalangism affecting the middle phalanges of the toes


Decreased sweating due to autonomic dysfunction


Bracket epiphysis of the distal phalanx of the 5th toe


Increased insulin like growth factor binding protein acid labile subunit concentration


Superficial dermal perivascular inflammatory infiltrate


Proximal/middle symphalangism of 4th toe


Large cafe-au-lait macules with irregular margins


Elevated circulating cartilage oligomeric matrix protein concentration


Renal arteriole lymphocyte endoarterial hypercellularity


Aplasia/Hypoplasia of the middle phalanx of the 3rd toe


Abnormal response to short acting pulmonary vasodilator


EEG with irregular generalized spike and wave complexes


Focal impaired awareness sexual automatism seizure


Glomerular basement membrane electron dense deposits


Absent epiphyses of the distal phalanges of the hand


Patchy sclerosis of the distal phalanx of the 3rd finger


Triangular shaped phalanges of the 3rd toe


Stippling of the epiphyses of the 4th finger


Increased anti-alpha-gal IgE antibody level


Cortical thickening of long bone diaphyses


Increased circulating troponin T concentration


Duplication of the distal phalanx of the 4th finger


Abnormal urinary electrolyte concentration


Abnormality of enteric nervous system morphology


Increased anti-parasite IgE antibody level


Fixed splitting of the second heart sound


Abnormal glomerular parietal epithelial cell morphology


Decreased size of nasopharyngeal adenoids


Duplication of the distal phalanx of the thumb


congenital anomalies of kidney and urinary tract 2


Abnormal tricuspid valve leaflet morphology


Bracket epiphyses of the phalanges of the hand


Bracket epiphysis of the proximal phalanx of the 5th finger


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Anti-multiple nuclear dots antibody positivity


Punctate periventricular T2 hyperintense foci


Partial absence of specific antibody response to tetanus vaccine


Pseudoepiphysis of the proximal phalanx of the hallux


Reversed end-diastolic umbilical artery flow


Stippled calcification of humeral metaphysis


Triangular shaped proximal phalanx of the 3rd finger


Osteolytic defects of the phalanges of the 4th toe


Decreased platelet thromboxane A2 receptor


Abnormal platelet alpha granule secretion


Aplasia/Hypoplasia involving the musculature of the extremities


Decreased specific anti-polysaccharide antibody level


Diffuse swelling of cerebral white matter


Pulmonary interstitial high-resolution computed tomography abnormality


Cellular non-specific interstitial pneumonia


Shortening of all proximal phalanges of the fingers


Bullet-shaped proximal phalanx of the 5th finger


Abnormality of the epiphysis of the proximal phalanx of the 4th finger


Limited mobility of proximal interphalangeal joint


Renal cortical interstitial inflammation


Decreased proportion of central memory CD8-positive, alpha-beta T cells


Bullet-shaped proximal phalanx of the thumb


Systolic anterior motion of the mitral valve


Patchy sclerosis of the proximal phalanx of the thumb


Abnormal small intestinal mucosa morphology


Aplasia cutis congenita over posterior parietal area


Aplasia/Hypoplasia of the palmar creases


Abnormality of intestinal smooth muscle morphology


Wide epiphyseal plates of the upper limbs


Symphalangism affecting the proximal phalanges of the hand


Complete duplication of the phalanges of the 2nd finger


Aplasia/Hypoplasia of the middle phalanges of the hand


Decreased circulating chylomicron concentration


Cone-shaped epiphysis of the middle phalanx of the 5th finger


Decreased circulating hydroxyproline concentration


Abnormal circulating cholesterol concentration


Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Decreased circulating dehydroepiandrosterone concentration


Cholesterol emboli within interlobular vein lumen


Absent epiphysis of the middle phalanx of the 3rd finger


EEG with photoparoxysmal response grade I


Absent TSH response to thyrotrophin-releasing hormone stimulation test


Thickened glomerular basement membranes with electron dense deposits


Abnormal proportion of class-switched memory B cells


Abnormality of the common coagulation pathway


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count


Mosaic attenuation pattern on pulmonary HRCT


Subluxation of the proximal interphalangeal joint of the little finger


Increased circulating purine concentration


Enlarged epiphysis of the middle phalanx of the 4th toe


Glomerular amyloid subepithelial deposits


Granulomatous arteriolitis of the arteriolar intima/media


Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Abnormality of the epiphyses of the feet


spondyloepimetaphyseal dysplasia, Strudwick type


Abnormal morphology of the proximal phalanx of the 3rd toe


Triangular shaped proximal phalanx of the 2nd finger


Abnormality of the epiphysis of the 5th metacarpal


Segmentally thickened glomerular basement membrane


Glomerular parietal epithelial cell hyperplasia


Abnormal cellular immune system morphology


Focal cognitive seizure with memory impairment


Nodular septal thickening on pulmonary HRCT


Sclerosis of the middle phalanx of the 4th toe


Abnormal autonomic nervous system morphology


Focal cognitive seizure with dissociation


Lytic defects in metaphyses of the upper limbs


Pseudoepiphysis of the proximal phalanx of the 2nd toe


Coarctation of the descending aortic arch


Symphalangism affecting the middle phalanx of the 3rd toe


Increased amyloid beta 40 peptide CSF concentration


Decreased circulating androstenedione concentration


Progressive intervertebral space narrowing


seizures-intellectual disability due to hydroxylysinuria syndrome


Aplasia/hypoplasia of the proximal phalanx of the 3rd toe


Increased circulating arachidonic acid concentration


Right aortic arch with retroesophageal diverticulum of Kommerell


Abnormal large intestinal mucosa morphology


Cortical radial artery medial/intimal arteriitis


Focal hypointensity of cerebral white matter on MRI


Elevated circulating hexacosanoic acid concentration


Focal aware emotional seizure with laughing


Bracket epiphysis of the middle phalanx of the 3rd finger


Enlarged epiphysis of the distal phalanx of the 3rd toe


High nonceruloplasmin-bound serum copper


Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells


Left superior vena cava draining to coronary sinus


Neonatal bilateral symmetric myoclonic seizure


Complete duplication of the proximal phalanx of the 4th toe


EEG with generalized polymorphic epileptiform discharges


hypothyroidism, congenital, nongoitrous, 2


Anti-neurofascin 186 antibody positivity


Anomalous origin of the left anterior descending artery from the pulmonary artery


Abnormal liver function tests during pregnancy


Duplication of the phalanges of the 2nd toe


Focal impaired awareness sensory seizure with auditory features


Stippling of the epiphysis of the proximal phalanx of the 3rd finger


central nervous system primitive neuroectodermal neoplasm


Abnormality of the epiphyses of the 5th finger


Abnormality of the internal auditory canal


Medullary peritubular capillary erythrocyte congestion


Bilateral symmetric neonatal sequential seizure


EEG with spike-wave complexes (2.5-3.5 Hz)


Stippling of the epiphyses of the proximal phalanges of the hand


Focal cognitive seizure with deja vu/jamais vu


Decreased circulating gonadotropin concentration


Adult onset sensorineural hearing impairment


Absent epiphysis of the proximal phalanx of the 3rd finger


Cortical radial artery intraluminal organized thrombi


Focal epileptiform discharges with limited propagation to contralateral hemisphere


Abnormality of the first metatarsal bone


Decreased motor nerve conduction velocity


Elevated urinary N,N-dimethylglycine level


Osteolytic defects of the proximal phalanx of the 2nd toe


Disseminated nontuberculous mycobacterial infection


Contracture of the distal interphalangeal joint of the 3rd finger


Cone-shaped epiphysis of the proximal phalanx of the hallux


Shortening of all distal phalanges of the toes


Ivory epiphysis of the proximal phalanx of the 4th finger


supratentorial primitive neuroectodermal tumor


Aplasia cutis congenita over the scalp vertex


EEG with parietal epileptiform discharges


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration


Triangular shaped phalanges of the 2nd finger


Focal aware sensory seizure with vestibular features


Abnormality of the distal phalanx of the 5th toe


Bullet-shaped proximal phalanx of the 4th toe


Pseudoepiphyses of the proximal phalanges of the hand


Sclerosis of the proximal phalanx of the 4th toe


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphyses of the distal phalanges of the hand


Elevated red cell adenosine deaminase level


Supracardiac total anomalous pulmonary venous connection


Reduced forced expiratory volume in one second


Reduced circulating growth hormone concentration


Anemia due to reduced life span of red cells


Decreased pre-bronchodilator forced expiratory flow 25-75%


Cortical thickening of the forearm bones


Passive dorsiflexion of the 5th finger more than 90 degrees


Chronic disseminated intravascular coagulation


Abnormal fetal cardiovascular physiology


Abnormal proportion of CD4-positive, alpha-beta memory T cells


Respiratory insufficiency due to defective ciliary clearance


Intermediate atrioventricular canal defect


Tetralogy of Fallot with pulmonary atresia


Impaired renal tubular reabsorption of magnesium


Triangular epiphysis of the distal phalanx of the 5th finger


Absent epiphysis of the middle phalanx of the 5th toe


Absent epiphysis of the distal phalanx of the 5th toe


Decreased CD69 upregulation upon TCR activation


Complete duplication of the proximal phalanx of the hallux


Bilateral tonic-clonic seizure on awakening


Glomerular capillary wall duplication with cellular interposition


Abnormally low T cell receptor excision circle level


Complete duplication of the 1st metatarsal


Stippling of the epiphyses of the 3rd toe


Partial diaphragmatic absence of pericardium


Abnormality of the spinocerebellar tracts


Abnormal response to gonadotropin-releasing hormone stimulation test


Triangular shaped middle phalanx of the 2nd finger


Ivory epiphysis of the distal phalanx of the 2nd toe


Focal impaired awareness sensory seizure with vestibular features


Weakness due to upper motor neuron dysfunction


Renal juxtaglomerular cell hypertrophy/hyperplasia


Proximal humeral metaphyseal irregularity


Patchy sclerosis of the middle phalanx of the 5th toe


Focal cognitive seizure with dyslexia/alexia


Increased urinary non-proteinogenic amino acid level


Patchy sclerosis of the proximal phalanx of the 4th finger


Irregular epiphysis of the middle phalanx of the 5th toe


Increased proportion of unswitched memory B cells


transient hypogammaglobulinemia of infancy


Small epiphysis of the distal phalanx of the 5th toe


Ivory epiphysis of the distal phalanx of the 3rd finger


Osteolytic defects of the proximal phalanx of the 5th toe


Abnormal urine isobutyrylglycine concentration


Decreased uridine diphosphate glucose-4-epimerase level in plasma


Osteolytic defects of the distal phalanx of the 3rd finger


Calcification of the interosseus membrane of the forearm


Patchy sclerosis of the middle phalanx of the 4th toe


Sclerosis of the proximal phalanx of the thumb


Macrodontia of permanent maxillary central incisor


Increased circulating free fatty acid level


Duplication of the proximal phalanx of the 5th toe


Cone-shaped epiphysis of the 1st metatarsal


Irregular epiphysis of the distal phalanx of the 2nd toe


Partial duplication of the distal phalanx of the 5th finger


Arcuate vein intimal/medial myxomatous degeneration


Neonatal electro-clinical seizure with behavior arrest


Sclerosis of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Elevated circulating dodecanoylcarnitine concentration


Abnormal circulating sarcosine concentration


Diffuse reticular or finely nodular infiltrations


Abnormal periventricular white matter morphology


Abnormal ossification of the trapezoid bone


Aplasia of the distal phalanx of the 4th toe


Fragmentation of the epiphyses of the 5th toe


Bracket epiphysis of the distal phalanx of the 4th toe


Facial telangiectasia in butterfly midface distribution


Premature fusion of the radial epiphyseal plates


Tapering pointed ends of distal finger phalanges


Focal aware perseverative automatism seizure


Cone-shaped epiphyses of the phalanges of the hand


Abnormal ulnar styloid process morphology


Focal impaired awareness cognitive seizure with dyslexia/alexia


Abnormal response to endocrine stimulation test


Aplasia/Hypoplasia of the phalanges of the toes


Abnormal connection of the cardiac segments


atrial septal defect, sinus venosus type


isolated congenital growth hormone deficiency


Glomerular basement membrane lamellation


Absent dorsal skin creases over affected joints


Sclerosis with transverse striations in metaphyses of the upper limbs


Enlarged epiphysis of the middle phalanx of the 3rd toe


Abnormal circulating prostaglandin circulation


Sclerotic foci of metaphyses of the elbow


Apneic episodes precipitated by illness, fatigue, stress


Underdeveloped inferior crus of antihelix


Irregular epiphysis of the proximal phalanx of the 4th toe


Increased immunoglobulin level in body fluid


Reduced TSH response to thyrotrophin-releasing hormone stimulation test


Abnormality of the third metatarsal bone


Ivory epiphysis of the middle phalanx of the 4th toe


Prolonged bleeding after dental extraction


Increased circulating 17 hydroxypregnenolone concentration


Partial duplication of the proximal phalanx of the 2nd finger


Absent epiphysis of the distal phalanx of the 2nd finger


Increased red cell hemolysis by shear stress


Abnormality of the epiphysis of the middle phalanx of the 2nd toe


Abnormal greater palatine artery morphology


Decreased thyroid-stimulating hormone level


Abnormal circulating acetylcarnitine concentration


Pseudoepiphyses of the phalanges of the hand


Renal interstitial neutrophil infiltration


Abnormality of the epiphysis of the distal phalanx of the 5th toe


Sclerosis of the proximal phalanx of the 2nd toe


Small epiphysis of the middle phalanx of the 2nd toe


Venous varicosities of celiac and mesenteric vessels


Complete heart block with broad QRS complexes


Abnormal circulating glutamine family amino acid concentration


Absent epiphysis of the distal phalanx of the 3rd finger


Osteolytic defects of the proximal phalanx of the 3rd toe


Stippling of the epiphysis of the middle phalanx of the 3rd finger


Swelling of proximal interphalangeal joints


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Abnormality of the epiphysis of the proximal phalanx of the thumb


Partial duplication of phalanx of the 2nd toe


Bullet-shaped middle phalanx of the 4th finger


Single ventricle of indeterminate morphology


Decreased circulating heparan sulfate level


Perivascular pre-capillary pulmonary artery inflammation


Irregular ossification of the humeral epiphyses


Decreased serum testosterone concentration


Decreased level of platelet-activating factor


Inability to walk by childhood/adolescence


Aplasia/Hypoplasia of the 3rd metacarpal


Perivascular myocardial immune cell infiltration


Focal impaired awareness bilateral motor seizure


Focal impaired awareness hemifacial clonic seizure


Anti-mitochondrial M2 antibody positivity


Severely reduced left ventricular ejection fraction


Fragmentation of the epiphysis of the proximal phalanx of the hallux


Abnormal morphology of left ventricular trabeculae


Self-mutilation of tongue and lips due to involuntary movements


Impaired ability to form peer relationships


Osteolytic defects of the middle phalanges of the hand


Sclerosis of the distal phalanx of the 2nd toe


Abnormal morphology of the proximal phalanx of the hallux


Small epiphysis of the middle phalanx of the 5th toe


Anti-epidermal transglutaminase antibody positivity


1-5 finger complete cutaneous syndactyly


Ivory epiphysis of the proximal phalanx of the thumb


Abnormal von Willebrand factor multimer distribution


Partial fusion of proximal row of carpal bones


Increased circulating prealbumin concentration


Decreased proportion of CD4-positive helper T cells


Elevated circulating alpha-aminobutyric acid concentration


Stippled calcification proximal humeral epiphyses


Bullet-shaped proximal phalanx of the 3rd toe


Medullary peritubular capillary intraluminal thrombi


Metaphyseal cupping of proximal phalanges


Partial absence of the septum pellucidum


Elevated plasma branched chain amino acids


Aplasia/Hypoplasia involving the vertebral column


Hypoplasia of maxilla relative to mandible


Abnormal ossification involving the femoral head and neck


Abnormality of the distal humeral epiphysis


Symphalangism affecting the distal phalanx of the 5th toe


Abnormal circulating carbohydrate concentration


Non-caseating epithelioid cell granulomatosis


Cone-shaped epiphysis of the distal phalanx of the thumb


Abnormal circulating nitrogen compound concentration


Proximal/middle symphalangism of 2nd toe


Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Confetti hypopigmentation pattern of lower leg skin


Focal EEG discharges with propagation to ipsilateral hemisphere


Abnormal radioactive iodine uptake test result


Focal autonomic seizure with pallor/flushing


Contracture of the metacarpophalangeal joint of the 2nd finger


Abnormality of the epiphyses of the 2nd finger


Pigmented micronodular adrenocortical disease


Tetralogy of Fallot with pulmonary stenosis


Abnormal size of nasopharyngeal adenoids


Abnormal cortical peritubular capillary morphology


Elevated circulating transferrin concentration


Irregular epiphysis of the middle phalanx of the 4th toe


Contracture of the metacarpophalangeal joint of the 3rd finger


Ground glass opacity of humeral diaphysis


Hyperchromasia of renal tubular epithelial cells


Contracture of the distal interphalangeal joint of the 4th finger


Bullet-shaped phalanges of the 5th finger


Abnormal circulating monocarboxylic acid concentration


Renal arteriole leukocytic endoarterial hypercellularity


Bracket epiphysis of the distal phalanx of the thumb


Triangular epiphysis of the distal phalanx of the 2nd toe


Abnormal circulating adrenocorticotropin concentration


Sclerosis of metaphyses of the upper limbs


Abnormal proportion of CD4+ central memory cells


Triangular shaped phalanges of the 5th finger


Stippling of the epiphysis of the proximal phalanx of the 5th toe


Enlarged epiphysis of the proximal phalanx of the 4th finger


Aplasia of the middle phalanx of the hand


White mater abnormalities in the posterior periventricular region


Arcuate artery intima/media coagulative necrosis


Abnormal proportion of naive CD8 T cells


Atrophy/Degeneration involving the corticospinal tracts


congenital absence of upper arm and forearm with hand present


Elevated alkaline phosphatase of hepatic origin


Patchy sclerosis of proximal toe phalanx


Focal impaired awareness cognitive seizure with left-right confusion


Abnormality of the humeral epiphyseal plate


Starry sky appearance on hepatic sonography


Abnormal circulating leucine concentration


Abnormal proximal ulnar epiphysis morphology


Anti-threonyl-tRNA synthetase antibody positivity


Osteolytic defects of the phalanges of the toes


Sclerosis of the distal phalanx of the thumb


Increased CSF alpha-aminobutyrate concentration


Abnormality of enteric ganglion morphology


Bracket epiphysis of the proximal phalanx of the 2nd toe


Anterior predominant thick cortex pachygyria


Pseudoepiphysis of the proximal phalanx of the 5th toe


Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger


Decreased movement range in interphalangeal joints


Contractures of the proximal interphalangeal joint of the 5th toe


Abnormality of the autonomic nervous system


Blood pressure substantially higher in arms than legs


Abnormality of the fontanelles or cranial sutures


Abnormality of the epiphysis of the 3rd metacarpal


Increased proportion of CD4+CD25+ regulatory T cells


Renal interstitial calcium phosphate deposits


Decreased proportion of CD8-positive, alpha-beta memory T cells


Increased circulating beta-2-microglobulin level


Linear arrays of macular hyperkeratoses in flexural areas


Increased circulating N-Acetylaspartic acid concentration


Stippling of the epiphysis of the proximal phalanx of the 4th finger


Fragmentation of the epiphysis of the proximal phalanx of the 5th finger


Anti-plasminogen binding peptide antibody positivity


Shortening of all middle phalanges of the toes


Abnormal portal venous system morphology


Increased ratio of VWF propeptide to VWF antigen


Complete or near-complete absence of specific antibody response to tetanus vaccine


Unbalanced atrioventricular canal defect


Irregular epiphysis of the distal phalanx of the 3rd toe


Renal interstitial globotriaosylceramide inclusions


Regional left ventricular wall motion abnormality


Abnormal amyloid beta 42 peptide CSF concentration


Anti-liver cytosolic antigen type 1 antibody positivity


Decreased proportion of CD8-positive T cells


Elevated bronchoalveolar lavage fluid lymphocyte proportion


Fractured distal phalanx of manual digit 5


Substantia nigra hypointensity on susceptibility-weighted imaging


Focal impaired awareness autonomic seizure


Focal aware cognitive seizure with expressive dysphasia/aphasia


Abnormality of umbilical vein blood flow


Neonatal electro-clinical non-motor seizure


EEG with hyperventilation-induced generalized epileptiform discharges


Decreased proportion of immature B cells


Mild malformation of cortical development


Impaired ristocetin cofactor assay activity


Abnormal proportion of CD8-positive, alpha-beta memory T cells


Increased proportion autoreactive unresponsive CD21-/low B cells


Abnormal mean corpuscular hemoglobin concentration


Abnormal gastrointestinal vascular morphology


Abnormal glucose-6-phosphate dehydrogenase level in tissue


Atrophy/Degeneration involving the spinal cord


Abnormality of permanent molar morphology


Abnormal platelet membrane protein expression


Aplasia of the middle phalanges of the toes


Abnormality of the middle phalanx of the 2nd finger


Triangular epiphysis of the proximal phalanx of the thumb


Osteolytic defects of the distal phalanx of the 2nd toe


Bullet-shaped phalanges of the 2nd finger


Elevated circulating sitosterol concentration


Absence of CD4-positive, CD25-positive regulatory T cells


Triangular shaped proximal phalanx of the 4th finger


Abnormal tricuspid valve annulus morphology


Bullet-shaped distal phalanx of the hallux


Decreased specific antibody response to protein-conjugated polysaccharide vaccine


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration


Increased groin pigmentation with raindrop depigmentation


Impaired renal tubular reabsorption of sodium


Increased proportion of central memory CD4-positive, alpha-beta T cells


Fractured middle phalanx of manual digit 5


Renal interstitial eosinophil infiltration


Osteolytic defect of the distal phalanx of the thumb


Total absence von Willebrand factor multimers


Increased proportion of immature gamma-delta T cells


Abnormalities of placenta or umbilical cord


Arcuate vein medial/intimal coagulative necrosis


Absent epiphysis of the proximal phalanx of the 3rd toe


Pachygyria with 5-10 mm cortical thickness


Anomalous muscle bundle of the right ventricle


Abnormal erythroid lineage cell morphology


Thyroid defect in oxidation and organification of iodide


Renal arteriolar lumen cholesterol emboli


Decreased proportion of CD8-positive, alpha-beta TEMRA T cells


Focal impaired awareness motor seizure with dystonia


Abnormal circulating dehydroepiandrosterone concentration


Small epiphysis of the middle phalanx of the 2nd finger


Fragmentation of the epiphyses of the 2nd toe


Extracranial internal carotid artery dissection


Bullet-shaped middle phalanx of the 3rd toe


Neonatal electro-clinical autonomic seizure


Triangular epiphyses of the middle phalanges of the hand


Abnormal morphology of the cortex of the humerus


Anti-SUMO-activating enzyme subunit 1 antibody positivity


Abnormal metacarpophalangeal joint morphology


Symphalangism affecting the phalanges of the hand


Fragmentation of the epiphyses of the 5th finger


Elevated circulating apolipoprotein A-II concentration


Arcuate artery intima/media liquefactive necrosis


Osteolytic defects of the phalanges of the 5th finger


Abnormality of the epiphyses of the 3rd toe


Progressive extrapyramidal movement disorder


Combined pre- and post-capillary pulmonary hypertension


Multifocal cerebral white matter abnormalities


Atrophy/Degeneration affecting the brainstem


Abnormality of the epiphysis of the proximal phalanx of the hallux


Increased anti-plant based food allergen IgE antibody level


Grade II preterm intraventricular hemorrhage


Increased plasma vitamin K epoxide after vitamin K supplementation


Decreased pituitary glycoprotein hormone alpha subunit level


Focal aware sensory seizure with hot-cold sensations


Elevated bronchoalveolar lavage fluid eosinophil proportion


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia


Apically displaced anterolateral papillary muscle


Increased circulating procalcitonin concentration


Increased non-HDL cholesterol concentration


Triangular shaped phalanges of the 2nd toe


Increased sulfur amino acid level in urine


Osteolytic defects of the proximal phalanx of the 2nd finger


Focal aware cognitive seizure with forced thinking


Neonatal seizure with electrographic correlate


Bracket epiphysis of the distal phalanx of the 2nd toe


Aplasia of the proximal phalanx of the 3rd finger


Triangular shaped phalanges of the 3rd finger


Abnormal morphology of the olfactory bulb


Impaired histidine renal tubular absorption


Normal density transverse bands in metaphyses of the upper limbs


Abnormal pulmonary valve cusp morphology


adnexal spiradenoma/cylindroma of a sweat gland


Osteolytic defects of the middle phalanx of the 3rd toe


Anti-phosphatidyl serine antibody positivity


Proximal/middle symphalangism of 4th finger


Absent epiphysis of the middle phalanx of the 2nd finger


Focal necrosis of right ventricular muscle cells


Abnormal arcuate artery intima/media morphology


EEG with central epileptiform discharges


Symphalangism affecting the distal phalanx of the hallux


Increased circulating androstenedione concentration


Fragmentation of the epiphysis of the proximal phalanx of the 5th toe


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Symphalangism of middle phalanx of 3rd finger


Abnormal sensory nerve conduction velocity


Increased bone density with cystic changes


Osteolytic defects of the distal phalanges of the hand


Partial duplication of the distal phalanx of the 3rd finger


Agenesis of primary maxillary central incisor


Curved linear dimple below the lower lip


Abnormality of the distal phalanx of the 5th finger


Increased esterified to free carnitine ratio


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Increased urine proteinogenic amino acid derivative level


Benign neoplasm of the central nervous system


Focal sensory seizure with gustatory features


Contracture of the distal interphalangeal joint of the 3rd toe


Abnormal circulating non-proteinogenic amino acid concentration


Elevated circulating apolipoprotein B concentration


Patchy sclerosis of the proximal phalanx of the 3rd finger


Abnormality of the vestibulocochlear nerve


Patchy sclerosis of the middle phalanx of the 5th finger


Abnormal umbilical artery doppler waveform during pregnancy


Abnormal circulating short-chain fatty-acid concentration


Abnormal serum insulin-like growth factor 1 level


Abnormal glomerular capillary morphology


Axillary and groin hyperpigmentation and hypopigmentation


Renal interstitial xanthogranulomatous inflammation


EEG with centrotemporal focal spike waves


Progressive pulmonary function impairment


Decreased circulating corticosterone level


Abnormal circulating ornithine concentration


Cone-shaped epiphysis of the proximal phalanx of the 4th toe


Elevated circulating propionylcarnitine concentration


Duplication of the middle phalanx of the 2nd finger


Contracture of the interphalangeal joint of the hallux


Decrease in high molecular weight von Willebrand factor Multimers


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine


Elevated proportion of CD4+ effector memory T cells


Intermittent generalized erythematous papular rash


Easily subluxated first metacarpophalangeal joints


Absent epiphysis of the middle phalanx of the 3rd toe


Focal aware autonomic seizure with piloerection


Triangular epiphysis of the middle phalanx of the 5th toe


Decreased proportion of CD4-positive T cells


Fatty replacement of ventricular myocardial tissue


Aplasia of the distal phalanx of the 5th finger


Pseudoepiphysis of the middle phalanx of the 5th finger


Abnormal morphology of myocardial trabeculae


Small epiphysis of the middle phalanx of the 4th toe


Abnormal proportion of effector memory CD8-positive, alpha-beta T cells


Focal impaired awareness autonomic seizure with erection


Abnormal glomerular endothelial cell morphology


Focal aware cognitive seizure with receptive dysphasia/aphasia


Low alkaline phosphatase of renal origin


Decreased circulating A-type natriuretic peptide level


Focal cognitive seizure with forced thinking


Lymphocytic infiltration of the colorectal mucosa


Decreased platelet alpha-2A-adrenergic receptor


Neonatal bilateral symmetric tonic seizure


Bracket epiphysis of the middle phalanx of the 5th finger


Focal substantia nigra T2 hyperintensity


Triangular epiphyses of the proximal phalanges of the hand


Abnormal glossopharyngeal nerve morphology


Abnormal arcuate artery lumen morphology


Triangular epiphysis of the middle phalanx of the 3rd toe


Proximal finger joint hyperextensibility


Ivory epiphysis of the distal phalanx of the 4th toe


Osteolytic defects of the middle phalanx of the 2nd toe


Abnormal circulating insulin concentration


Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis


Focal aware emotional seizure with fear/anxiety/panic


Renal arteriole foam cell endoarterial hypercellularity


Abnormality of the epiphysis of the distal phalanx of the hallux


Aplasia/hypoplasia of proximal toe phalanx


Increased level of myristic acid in serum


Focal aware head nodding automatism seizure


Confluent hyperintensity of cerebral white matter on MRI


Bracket epiphysis of the proximal phalanx of the thumb


Abnormality of the distal phalanges of the toes


Focal impaired awareness autonomic seizure with piloerection


Anomalous origin of right coronary artery from the pulmonary artery


Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


Agenesis of permanent mandibular central incisor


Symphalangism affecting the phalanges of the 3rd toe


Increased aromatic amino acid level in urine


Osteolytic defects of the phalanges of the 2nd finger


Bullet-shaped distal phalanx of the thumb


Abnormality of the epiphyses of the distal phalanx of finger


Enlarged epiphysis of the distal phalanx of the 3rd finger


Reduced left ventricular endsystolic diameter


Fatiguable weakness of proximal limb muscles


Abnormal left ventricular endsystolic diameter


Early progressive calcific cardiac valvular disease


Irregular epiphysis of the 1st metatarsal


Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


Anti-phosphatidic acid antibody positivity


Cone-shaped epiphysis of the middle phalanx of the 5th toe


Soft-tissue ossification around the shoulders


Anomalous origin of the right common carotid artery from the aorta


Stippling of the epiphysis of the proximal phalanx of the 2nd toe


Sclerosis of the distal phalanx of the 4th finger


Abnormal subcutaneous fat tissue distribution


Neonatal electro-clinical myoclonic seizure


Multiple muscular ventricular septal defects


Irregular epiphysis of the distal phalanx of the 5th finger


Oligoclonal elevation of circulating IgG


Elevated CSF chitinase-3-like protein 1 level


inherited glutathione synthetase deficiency


Type 1 congenital pulmonary airway malformation


Enlarged epiphysis of the distal phalanx of the 2nd finger


Aplasia/Hypoplasia of the phalanges of the 5th toe


Abnormality of the epiphysis of the distal phalanx of the 5th finger


Small epiphysis of the proximal phalanx of the 4th finger


Abnormal circulating carnitine concentration


Absent epiphysis of the distal phalanx of the 5th finger


Rhomboid or triangular shaped 5th finger proximal phalanx


Abnormal circulating copper concentration


atrial septal defect, coronary sinus type


Elevated circulating uracil concentration


Lateral displacement of the femoral head


Anomalous coronary artery arising from the opposite sinus


Abnormal cerebral venous sinus morphology


Subluxation of the small joints of the hand


Abnormality of cardiovascular system electrophysiology


Abnormality of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the hand


Absent epiphysis of the proximal phalanx of the 5th finger


Stippling of the epiphysis of the middle phalanx of the 2nd finger


Focal aware cognitive seizure with dysgraphia/agraphia


Patchy sclerosis of the distal phalanx of the 5th finger


Tetralogy of Fallot with absent subarterial conus


Abnormal morphology of the proximal phalanx of the 5th toe


Posterior predominant subcortical band heterotopia


Renal tubular basement membrane denudation


Patent ductus arteriosus after premature birth


Stippling of the epiphysis of the proximal phalanx of the thumb


Decreased proportion of unswitched memory B cells


Abnormality of the epiphysis of the distal phalanx of the 4th finger


Malformation of the hepatic ductal plate


Fractured epiphysis of first metatarsal bone


Partial duplication of the proximal phalanx of the 5th toe


Focal aware cognitive seizure with memory impairment


Renal tubular epithelial cell detachment


Elevated circulating linoleylcarnitine concentration


Focal aware emotional seizure with paranoia


Decreased circulating apolipoprotein C-II concentration


Abnormal glomerular capillary lumen morphology


Periventricular white matter hypodensities


Pseudoepiphyses of the distal phalanges of the hand


Enlarged epiphysis of the proximal phalanx of the 5th finger


Abnormal circulating glutamine concentration


Abnormal circulating phospholipid concentration


Osteolytic defects of the middle phalanx of the 2nd finger


Small epiphysis of the distal phalanx of the thumb


Elevated circulating dodecenoylcarnitine concentration


Thickened glomerular basement membranes with no electron dense deposits


Cauliflower deformity of dermal collagen fibrils


Symphalangism affecting the proximal phalanx of the 3rd finger


Reduced renal corticomedullary differentiation


Anti-centromere protein B antibody positivity


Abnormal left ventricular end-diastolic volume


Complete duplication of the middle phalanx of the 3rd finger


Abnormal circulating amino acid concentration


Abnormal proximal phalanx morphology of the hand


Radial deviation of the hand or of fingers of the hand


Increased LH response to gonadotropin-releasing hormone stimulation test


Abnormal morphology of female internal genitalia


Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Focal aware cognitive seizure with deja vu/jamais vu


Inactivating thyroid-stimulating hormone receptor defect


Increased circulating adrenic acid concentration


Tubular basement membrane disintegration


Abnormal distribution of CD56 bright/dim natural killer cells


Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Hypokalemic hypochloremic metabolic alkalosis


Increased circulating creatine kinase MB isoform


Irregular epiphysis of the middle phalanx of the 3rd finger


Irregular epiphyses of the phalanges of the hand


Abnormal circulating luteinizing hormone concentration


Abnormality of the musculature of the lower limbs


Abnormality of the epiphysis of the 4th metacarpal


Fibrillary glomerular subepithelial deposits


Cortical diaphyseal thickening of the upper limbs


Pseudoepiphysis of the distal phalanx of the 3rd finger


Cyclic neutropenia in myeloid maturation arrest in bone marrow


Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Sclerosis of the proximal phalanx of the 2nd finger


Increased circulating thyroxine-binding globulin level


Intrauterine fetal demise of one twin after midgestation


Irregular epiphysis of the distal phalanx of the thumb


Abnormal glomerular mesangial cellularity


Abnormality of the curvature of the vertebral column


Contracture of the distal interphalangeal joint of the 5th finger


Abnormal distribution of cell junction proteins in buccal mucosal cells


Proximal/middle symphalangism of 5th finger


Stippling of the epiphysis of the middle phalanx of the 4th finger


Increased hepatitis B virus antibody level


Posterior communicating artery infundibulum


Microvillar PAS-positive secretory granules


Decreased proportion of immature gamma-delta T cells


Duplication of the proximal phalanx of the thumb


Impaired von Willibrand factor collagen binding activity


Orofacial action-specific dystonia induced by speech


Intermittent episodes of respiratory insufficiency due to muscle weakness


Complete duplication of the middle phalanx of the 4th toe


Contracture of the distal interphalangeal joint of the 2nd toe


Abnormality of the epiphysis of the middle phalanx of the 2nd finger


Shortening of all distal phalanges of the fingers


Patchy sclerosis of the proximal phalanx of the 5th finger


Elevated circulating deoxyuridine concentration


Abnormal inferior thyroid vein morphology


Increased level of L-pyroglutamic acid in urine


Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger


Cortical radial artery intraluminal thrombi


Increased circulating very long-chain fatty acid concentration


Abnormal circulating thyroid hormone concentration


Rhomboid or triangular shaped 5th finger middle phalanx


Elevated left ventricular end-diastolic diameter


Triangular epiphysis of the proximal phalanx of the hallux


Eye of the tiger anomaly of globus pallidus


anomalous left coronary artery from the pulmonary artery


Duplication of the distal phalanx of the 3rd finger


Fractured middle phalanx of manual digit 3


Small epiphyses of the distal phalanges of the hand


Acute disseminated intravascular coagulation


Triangular shaped distal phalanx of the 4th finger


Focal aware cognitive seizure with anomia


Cone-shaped epiphysis of the proximal phalanx of the 2nd finger


Monoclonal elevation of IgG lambda chain


Paradoxical splitting of the second heart sound


Transphyseal fracture of the distal humerus


Duplication of the middle phalanx of the 2nd toe


Renal medullary interstitial inflammation


Morphological abnormality of the papillary muscles


Decreased proportion of effector memory CD8-positive, alpha-beta T cells


Partial duplication of the middle phalanx of the 3rd toe


Corticotropin-releasing hormone deficient adrenal insufficiency


Abnormal morphology of the limbic system


Abnormality of the distal phalanx of the 3rd finger


Fixated interest with abnormal intensity


Proximal/middle symphalangism of 3rd toe


Loss of ability to walk in early childhood


Enlarged epiphysis of the proximal phalanx of the hallux


Right aortic arch with left descending aorta and left ductus arteriosus


Enhanced ristocetin cofactor assay activity


Focal sensory seizure with visual features


Childhood onset short-limb short stature


Fragmentation of the epiphysis of the distal phalanx of the 4th finger


Aplasia of the inferior half of the cerebellar vermis


Focal impaired awareness cognitive seizure with deja vu/jamais vu


Abnormality of upper limb epiphysis morphology


Pseudoepiphysis of the distal phalanx of the 2nd toe


Stippling of the epiphyses of the 5th finger


Arcuate artery endoarterial foam cell hypercellularity


Abnormality of the parathyroid morphology


Premature epimetaphyseal fusion in tibia


Reduced sex -hormone binding protein level


Focal impaired awareness cognitive seizure with forced thinking


Osteolytic defects of the distal phalanx of the 2nd finger


Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


Multilamellation of medullary peritubular capillary basement membranes


Decreased lymphocyte proliferation in response to mitogen


Abnormal circulating hormone concentration


Pulmonary arterial hypertension with positive acute response to NO challenge


Aortic smooth muscle cell disorganization


Bullet-shaped middle phalanges of the hand


Increased anti-insect IgE antibody level


Increased circulating ceruloplasmin concentration


Sclerosis of the proximal phalanx of the hallux


Increased circulating inosine concentration


Ivory epiphyses of the distal phalanges of the hand


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test


Abnormal glomerular mesangial matrix morphology


Parkinsonism with favorable response to dopaminergic medication


Bilateral asymmetric neonatal sequential seizure


Triangular shaped middle phalanges of the hand


Aplasia/hypoplasia involving bones of the hand


Dense calcifications in the cerebellar dentate nucleus


Focal cognitive seizure with receptive dysphasia/aphasia


Triangular shaped phalanges of the 4th toe


Pubertal developmental failure in females


Focal impaired awareness sensory seizure with somatosensory features


Symphalangism affecting the distal phalanx of the 3rd toe


Neonatal bilateral asymmetric epileptic spasm


Complete duplication of the proximal phalanx of the 5th finger


Symphalangism affecting the proximal phalanx of the 2nd finger


Antidromic atrioventricular reentrant tachycardia


Focal impaired awareness automatism seizure


Abnormal greater sciatic notch morphology


Elevated prostate-specific antigen level


Increased circulating chylomicron concentration


Patchy sclerosis of the middle phalanx of the 2nd finger


Supraventricular tachycardia with a concealed accessory connection


Irregular epiphysis of the distal phalanx of the 3rd finger


Accumulation of melanosomes in melanocytes


Decreased level of histidine-rich glycoprotein


Symphalangism affecting the phalanges of the hallux


Abnormal cardiac magnetic resonance imaging finding


Patchy sclerosis of proximal phalanx of finger


Focal impaired awareness autonomic seizure with pallor/flushing


Cone-shaped epiphysis of the distal phalanx of the 5th finger


Aplasia cutis congenita over parietal area


Aplasia cutis congenita on trunk or limbs


Anti-SUMO-activating enzyme antibody positivity


Abnormal circulating antimullerian hormone concentration


Ivory epiphyses of the middle phalanges of the hand


Elevated circulating palmitoleylcarnitine concentration


Renal arteriole intima/media arteriolosclerosis


Decreased compound muscle action potential amplitude


Fractured distal phalanx of manual digit 3


Abnormal inner ear epithelium morphology


Persistent preoccupation with parts of objects


Short proximal phalanx of the 2nd finger


Abnormal bronchoalveolar lavage fluid morphology


Patchy sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Increased adipose tissue around the neck


Abnormal circulating cysteine concentration


Functional abnormality of the middle ear


Focal aware motor seizure with paresis/paralysis


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


EEG with generalized low amplitude activity


Abnormal great auricular nerve morphology


Abnormal cardiomyocyte connexin43 staining


Coarctation in the transverse aortic arch


Abnormal carbon dioxide level in cord blood


Triangular shaped proximal phalanges of the toes


Elevated circulating tetracosanoic acid concentration


Sclerosis of the proximal phalanx of the 3rd toe


Abnormality of the epiphysis of the middle phalanx of the 5th toe


Triangular shaped distal phalanx of the thumb


Abnormal peripheral action potential amplitude


Sclerosis of the middle phalanx of the 3rd toe


Multicentric ossification of proximal femoral epiphyses


Complete duplication of the first metacarpal


Aplasia/Hypoplasia of the capital femoral epiphysis


Impaired renal tubular reabsorption of bicarbonate


Loss of glomerular endothelial cell fenestration


Right ventricular outlet tract obstruction


Abnormality of central nervous system electrophysiology


Right aortic arch with retroesophageal left subclavian artery


Abnormality of lipoprotein cholesterol concentration


Abnormal interlobular vein lumen morphology


Anti-tissue transglutaminase antibody positivity


Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal


Hypersegmentation of proximal phalanx of second finger


Complete duplication of the middle phalanx of the 4th finger


Fragmentation of the epiphysis of the proximal phalanx of the thumb


Focal motor seizure with paresis/paralysis