Gene Summary

Name:
SMG1 nonsense mediated mRNA decay associated PI3K related kinase
Synonyms:
5430435M13Rik,  C130002K18Rik,  SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans),  2610207I05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Smg1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating bilirubin level Smg1tm1b(EUCOMM)Hmgu HET Early adult 2.48×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

1 Images

Legacy Phenotype Associated Images

View all 6 images

Human diseases caused by Smg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Smg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Schizophrenia 4
Hyperprolinemia OMIM:600850
Maple Syrup Urine Disease, Mild Variant
Hyperisoleucinemia, Hyperleucinemia OMIM:615135
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Hyperhomocystinemia, Methylmalonic acidemia OMIM:613646
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Sotos syndrome
Tall stature, Mandibular prognathia DECIPHER:17
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality of the ureter, Narrow m... ORPHA:1133
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Hypophosphatemic rickets, L... OMIM:618913
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lymphadenopathy, Eleva... OMIM:619750
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Retrognathia, Splenomegaly, Hepatomegaly, High palate, Mandibular prognathia OMIM:615637
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... OMIM:608971
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Short philtru... ORPHA:2429
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Recurrent respiratory infections, Widely spaced t... ORPHA:61
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Obesity, Micrognathia, Amelogenesis imperfecta,... OMIM:618363
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Permanent Molars, Secondary Retention Of
Abnormality of the dentition, Mandibular prognathia OMIM:157950
Bazex Syndrome
Lip hyperpigmentation, Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Autosomal Dominant Prognathism
Open bite, Mandibular prognathia, Everted lower lip vermilion ORPHA:2964
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis, High palate, Mandibular prognathia, Disproportionate ... ORPHA:2172
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Atopic dermatitis, Dental crowding, Obesity, Mandibular prognathia OMIM:606772
Chromosome Xq25 Duplication Syndrome
Tall stature, Mandibular prognathia, Malar flattening, Thick vermilion border OMIM:300979
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age, Median cleft palate, Recurrent respiratory infections ORPHA:2432
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt... ORPHA:2325
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Mandibular prognathia, Widely spaced teeth OMIM:616116
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hyperc... OMIM:615703
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Retrognat... ORPHA:391372
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lym... ORPHA:158057
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Aredyld
Mandibular prognathia OMIM:207780
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Malar prominence, Micrognathia, Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent respiratory infections... OMIM:300853
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Mandibular prognathia, Exostoses OMIM:165800
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Mandibular pro... ORPHA:397973
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Maxillofacial Dysostosis
Mandibular prognathia OMIM:155000
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent ... OMIM:240500
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, High palate, Mandibular prognathia ORPHA:168624
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Adrenocortical Carcinoma
Increased urinary cortisol level, Lung adenocarcinoma, Increased body weight, Abnormality of urin... ORPHA:1501
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Lymphoma, Recurrent otitis media, Decreased ... ORPHA:397596
Imagawa-Matsumoto Syndrome
Tall stature, Mandibular prognathia, Birth length greater than 97th percentile, Overgrowth OMIM:618786
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Thick lower lip vermilion OMIM:309545
Phenobarbital Embryopathy
Unilateral cleft lip, Mandibular prognathia, Hypospadias, Malar flattening ORPHA:1919
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Trismus-Pseudocamptodactyly Syndrome
Mandibular prognathia ORPHA:3377
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Pointed chin, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary te... OMIM:618342
Xq25 Microduplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border ORPHA:521258
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Cachexia, Short philtru... ORPHA:2471
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Lymphoma, Thick lower lip vermilion, Abnorma... ORPHA:10
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Tall stature, Slender build, High palate, Mandibular prognathia OMIM:300676
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatic steatosis, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Prop... ORPHA:528
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Pointed chin, Mandibular prognathia, Dental malocclusion, High palate OMIM:618292
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Mandibular prognathia OMIM:619031
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Abnormal dental morphology, Obesity, Micropenis, Hypoplasia of penis ORPHA:85274
Perlman Syndrome
High, narrow palate, Retrognathia, Abnormal pancreas morphology, Capillary hemangioma, Tall statu... ORPHA:2849
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fail... OMIM:620357
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Abnormality of the dentition, Mandibular prognathia, Dental malo... ORPHA:1858
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Intellectual Developmental Disorder, Autosomal Recessive 48
Mandibular prognathia, Long philtrum OMIM:616269
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Leukodystrophy, Hypomyelinating, 17
Gingival overgrowth, Mandibular prognathia, Thick vermilion border, Widely spaced teeth OMIM:618006
Potocki-Lupski Syndrome
Dental malocclusion, Failure to thrive, Dental crowding, Hypocholesterolemia, Micrognathia, Wide ... OMIM:610883
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Intellectual Developmental Disorder, Autosomal Dominant 70
Pointed chin, Hypoplasia of the maxilla, Failure to thrive, Retrognathia, Micrognathia, Malar fla... OMIM:620157
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Mandibular prognathia ORPHA:3434
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Intellectual Developmental Disorder, X-Linked 107
Obesity, Thin upper lip vermilion, Smooth philtrum, Broad chin, Mandibular prognathia OMIM:301013
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Mandibular prognathia OMIM:619971
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Renal insufficiency... OMIM:619386
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Lymphoma, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hype... OMIM:614470
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Micrognathia, Mandibular prognathia, Failure to thrive OMIM:604317
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterolemia, Trunc... ORPHA:633
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid... OMIM:232700
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Decreased circulating antibody level, Mandibular prognathia, Cleft palate ORPHA:85317
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Malar flattenin... OMIM:614727
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen... OMIM:259710
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Retrognathia, Hepatos... ORPHA:79333
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Osteoarthriti... OMIM:606069
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, ... OMIM:617872
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancreatitis... OMIM:618805
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Retrognathia, Long philtrum, Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, M... OMIM:619595
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Torus palatinus, Mandibular prognathia ORPHA:2790
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Carious teeth, Increased circulating ferritin... OMIM:620603
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Sclerosteosis 2
Mandibular prognathia OMIM:614305
Ramon Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G... ORPHA:3019
Cockayne Syndrome Type 2
Short chin, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of pri... ORPHA:90322
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Overgrowth, Advan... OMIM:614753
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Wide mouth, Mandibular prognathia ORPHA:411515
Familial Adenomatous Polyposis 1
Carious teeth, Hepatoblastoma, Multiple lipomas, Osteoma, Desmoid tumors, Carcinoma, Eruption fai... OMIM:175100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Small for gestational age, Decreased body weight ORPHA:93950
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis OMIM:122860
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp... ORPHA:66661
Intellectual Developmental Disorder, Autosomal Recessive 74
Narrow palate, Mandibular prognathia OMIM:617169
Smith-Magenis Syndrome
Cleft upper lip, Failure to thrive in infancy, Abnormality of the ureter, Obesity, Micrognathia, ... ORPHA:819
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Widely-spaced maxillary central incisors, Obesity, Deep philtrum, Myeloi... ORPHA:404443
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Mandibular prognathia, Tall chin ORPHA:137831
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body weight, Increased body mass index, Anemia, Macroglossia OMIM:614450
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Short philtrum, Mandibular prognathia, Cleft palate ORPHA:94066
Smith-Magenis Syndrome
Abnormality of the dentition, Velopharyngeal insufficiency, Everted upper lip vermilion, Malar fl... OMIM:182290
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia, Neurofibroma ORPHA:2430
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental ename... ORPHA:96263
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hep... ORPHA:100025
Hyperostosis Corticalis Generalisata
Mandibular prognathia ORPHA:3416
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Mandibular prognathia, Elevated circulating creatine kinase concent... OMIM:619040
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... OMIM:608709
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Frank-Ter Haar Syndrome
Acne, Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion bord... ORPHA:137834
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Failure to thrive in infancy, Obesity, Open mouth, Malar flattening, Enuresis OMIM:613670
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia, Microretrognathia, Hepatosplenomegaly, High palate, Mandibular prognathia ORPHA:397612
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Steatocystoma Multiplex With Natal Teeth
Steatocystoma multiplex, Natal tooth OMIM:184510
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Multiple unerupted teeth, Brain neoplas... ORPHA:79665
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, Malar flattening, High palate, Mandibular prognathia ORPHA:2180
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating... OMIM:615980
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... OMIM:230350
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:300861
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Obesity, Persistence of primary teeth, Malar flattening, Prot... OMIM:610253
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis, Pointed chin, Mandibular prognathia OMIM:248000
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Nephrocalcinosis, Delayed eruption of permanent teeth, Gingiva... OMIM:204690
Raynaud-Claes Syndrome
Mandibular prognathia OMIM:300114
Schaaf-Yang Syndrome
Retrognathia, Failure to thrive in infancy, Obesity, Open mouth, Abnormality of the philtrum, Mic... OMIM:615547
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent... OMIM:607594
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Thick lower lip vermilion, Wide mouth, Abdominal obesity, Micropenis, Macroglossia, ... OMIM:300354
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Micrognathia, Deep philtrum, Thick vermilion border OMIM:102150
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Elevated hapto... OMIM:620632
Renpenning Syndrome
High, narrow palate, Hypospadias, Macrodontia, Narrow mouth, Malar flattening, Cachexia, Short ph... ORPHA:3242
Dpm1-Cdg
High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, F... ORPHA:79322
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Oligosacchariduria, Delayed eruption of teeth, Long philtrum, Splenomegaly, Broa... OMIM:616354
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Cockayne Syndrome Type 1
Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Failure to... ORPHA:90321
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Abnormal oral cavity morphology, Weight loss, Lymphadenopa... ORPHA:42642
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pa... ORPHA:116
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion... ORPHA:364028
Pituitary Gigantism
Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Tall stature, Left ventr... ORPHA:99725
Steatocystoma Multiplex
Steatocystoma multiplex, Natal tooth OMIM:184500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Dental crowding, Failure to thrive, Tall stature, Hepatic ste... OMIM:236200
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, H... ORPHA:210548
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Dental crowding, Micrognathia, Narrow mo... OMIM:615381
Wagro Syndrome
Dental crowding, Obesity, Micrognathia, Malar flattening, Nephroblastoma, Proteinuria, Multiple e... OMIM:612469
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Elevated circulating hepatic transaminase concentration, Small for gestational age, ... ORPHA:2959
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Micrognathia, Narrow m... OMIM:608572
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Elevated... OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Tall stature, Mandibular prognathia OMIM:102100
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Abnormal c... OMIM:226990
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Mandibular prognathia, Hypospadias, Malar flattening OMIM:614613
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Recurrent respirat... ORPHA:261494
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, H... OMIM:614921
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight ORPHA:93945
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl... OMIM:209950
Luscan-Lumish Syndrome
Pointed chin, Recurrent otitis media, Obesity, Malar flattening, Overgrowth, Mandibular prognathia OMIM:616831
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Heliotro... ORPHA:221
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,... OMIM:500009
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa... OMIM:619013
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, N... ORPHA:137605
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ... OMIM:300636
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Carious teeth, Failure to thrive, Exocrine pancreatic insufficiency, Splenomeg... OMIM:612714
Classic Multiminicore Myopathy
Microretrognathia, Failure to thrive, Increased muscle lipid content, High palate, Mandibular pro... ORPHA:324604
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer,... ORPHA:79259
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Aplasia/Hyp... ORPHA:1046
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Large for gestational age, Micrognathia, Nephroblastoma, Overgrowth, Enlarged kidney OMIM:618272
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Advanced eruption of teeth, Pancreatitis, Hypertriglyceridemia, ... ORPHA:2348
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Orofacial cleft, Mandibular prognathia... OMIM:601349
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly... ORPHA:37748
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia, Broad chin, Overweight, Mandibular prognathia ORPHA:401923
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Sotos Syndrome
High, narrow palate, Pointed chin, Narrow palate, Tall stature, Narrow jaw, Otitis media, Increas... OMIM:117550
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicul... ORPHA:83469
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Paganini-Miozzo Syndrome
Downturned corners of mouth, Malar flattening, Hyperalaninemia, Urinary incontinence, Mandibular ... OMIM:301025
Autism, Susceptibility To, X-Linked 6
Short philtrum, Obesity, Narrow mouth OMIM:300872
Xp22.13P22.2 Duplication Syndrome
High palate, Mandibular prognathia, Recurrent upper respiratory tract infections, Truncal obesity ORPHA:284180
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Felty Syndrome
Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A... ORPHA:47612
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, Le... OMIM:210900
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Failure ... OMIM:300534
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Carious teeth, Recurrent pneumonia, Chondroitin sul... OMIM:253000
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Rabin-Pappas Syndrome
Pointed chin, Retrognathia, Failure to thrive in infancy, Obesity, Micrognathia, Malar flattening... OMIM:620155
Short Stature, Dauber-Argente Type
Short chin, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Leishmaniasis
Hypoalbuminemia, Abnormal oral mucosa morphology, Elevated circulating hepatic transaminase conce... ORPHA:507
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Long philtrum, Abnormal dental enamel morpholog... ORPHA:439822
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Eczematoid dermatitis, Failure to thrive, Long philtrum, Overgrowth, Mandibular prognathia OMIM:619721
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Dental crowding, Branchial cyst, Thin upper lip vermilion, Pulmonary artery stenosis... ORPHA:435938
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Eczematoid dermatitis, Sulfocysteinuria, Decreased urinary sulfate, El... OMIM:272300
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Malar ... OMIM:232400
Classic Mycosis Fungoides
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Splenomega... ORPHA:2584
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Abnormality of the... ORPHA:2863
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Thin upper lip vermilion, Smooth philtrum, Wide mouth, Mandibular prognathia OMIM:619989
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Dimp... ORPHA:1452
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim... ORPHA:444463
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
15Q Overgrowth Syndrome
High, narrow palate, Bifid uvula, Microretrognathia, Dental crowding, Ureterovesical stenosis, Re... ORPHA:314585
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia OMIM:618732
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Achalasia-Microcephaly Syndrome
Micrognathia, Mandibular prognathia ORPHA:929
49,Xxxyy Syndrome
Recurrent upper respiratory tract infections, Micrognathia, Eunuchoid habitus, Micropenis, Mandib... ORPHA:261534
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami... OMIM:170100
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Microretrognathia, Failure to thrive, Polysplenia, E... OMIM:619418
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Skin rash, Weight loss, Lymphadeno... ORPHA:391
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Failure to thrive, Long philtrum, Tented upper lip vermilion, High palate, Short philtrum, Mandib... OMIM:620001
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c... OMIM:607271
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, H... ORPHA:59303
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias ORPHA:1816
Acquired Partial Lipodystrophy
Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Mandibular prognathia, Open mouth OMIM:300143
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Advanced eruption of teeth, High palate, Mandibular prognathia, Small for gestational... OMIM:262190
Proteus-Like Syndrome
Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Open bite, Splenomegaly, Hemangioma, ... ORPHA:2969
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis, Obesity, Hypoalbuminemia ORPHA:88643
Macrocephaly/Autism Syndrome
Long philtrum, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile fr... OMIM:605309
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Pointed chin, Long philtrum, Obesity, Micrognathia, Thin upper lip vermilion, Lipoma, High palate... ORPHA:480907
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glomerular sclerosis, Hepatomegal... OMIM:619487
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce... OMIM:613070
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... OMIM:619164
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c... ORPHA:254864
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Infantile Sialic Acid Storage Disease
Failure to thrive, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Vacuolated lymphocyt... OMIM:269920
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre... OMIM:600649
Congenital Myopathy 17
Renal hypoplasia, Dental malocclusion, Short chin, Long philtrum, Failure to thrive in infancy, U... OMIM:618975
Dermoodontodysplasia
Microdontia, Mandibular prognathia, Tooth agenesis ORPHA:1660
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... ORPHA:53693
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Abnormal zygomatic bone morphology, Mandibular prognathia, Malar flattening ORPHA:2511
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Ascites, Nephroblastoma, Cardiomegaly, Absent... OMIM:253250
Intellectual Developmental Disorder, Autosomal Recessive 61
Conical tooth, High palate, Mandibular prognathia OMIM:617773
Zechi-Ceide Syndrome
Cleft lip, Downturned corners of mouth, Oligodontia, Thin vermilion border, Short philtrum, Mandi... ORPHA:217017
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:608799
Christianson Syndrome
Cachexia, Mandibular prognathia ORPHA:85278
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Tall stature, Hep... OMIM:608594
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Glomerulon... OMIM:619375
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Mandibular prognathia, Malar flattening, Downturned corners of mouth OMIM:618672
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Long philtrum, Everted lower lip vermilion, Thick vermilion border, Short ph... OMIM:619880
Follicular Lymphoma
Lymphoma, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morph... ORPHA:545
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Lymphoma, Increased circula... ORPHA:2314
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Pancytopenia, Oral ulcer, Increased serum bile acid concentration... ORPHA:811
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Gm1 Gangliosidosis
Ganglioside accumulation, Failure to thrive, Long philtrum, Aspiration pneumonia, Hepatosplenomeg... ORPHA:354
Hennekam Syndrome
Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney, Abnormal oral mucosa morph... ORPHA:2136
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Deep philtrum, Mandibular prognathia, Retrognathia OMIM:620535
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Tall stature, Hep... OMIM:269700
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Temple Syndrome
Bifid uvula, Recurrent otitis media, Obesity, Micrognathia, Short philtrum, Hypercholesterolemia,... OMIM:616222
Bardet-Biedl Syndrome 21
Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Horseshoe ... OMIM:617406
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Mandibular prognathia OMIM:615516
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Widely spaced teeth, Obesity, Protruding tongue, Wide mouth ORPHA:411511
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Carious teeth, Chondroitin sulfate excretion in uri... OMIM:253010
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Carious teeth, Natal tooth, Failure to thrive, Lymphopenia, Abdominal adhes... OMIM:616395
Rothmund-Thomson Syndrome
Neoplasm of the skin, Carious teeth, Aplastic anemia, Melanoma, Calcinosis, Neutropenia, Basal ce... ORPHA:2909
Vulto-Van Silfhout-De Vries Syndrome
Tented upper lip vermilion, High palate, Mandibular prognathia, Thick lower lip vermilion OMIM:615828
Harel-Yoon Syndrome
Micrognathia, Mandibular prognathia OMIM:617183
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Gin... ORPHA:99843
Noonan Syndrome 5
Large for gestational age, Wide mouth, Mandibular prognathia, Thick vermilion border OMIM:611553
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental ename... ORPHA:96264
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Macroglossia, Recurrent pneumonia... OMIM:617303
Prognathism, Mandibular
Mandibular prognathia, Thick lower lip vermilion OMIM:176700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Open mouth, Wide mouth, T... OMIM:619720
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Chin with horizontal crease, Thin upper lip vermilion, Microdontia, Ev... OMIM:619736
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypospadias ORPHA:2252
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Microdont... OMIM:268400
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur... OMIM:615486
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Neoplasm, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hy... ORPHA:169090
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Oral ulcer, Cirrhosis, Increased circulating IgA level, Neutropenia, He... OMIM:308230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Tented upper lip vermilion, Thin upper lip vermilion, Bilateral cleft lip, Smooth ph... OMIM:618622
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Hyperlipidemia, Medulloblastoma, Overgrowth, Odontogenic k... ORPHA:199276
Zimmermann-Laband Syndrome 1
Long penis, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Wide mouth, Gi... OMIM:135500
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Reduced circulating alpha-1-antitrypsin concentration, Hepat... ORPHA:60
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Mannosidosis, Alpha B, Lysosomal
Widely spaced teeth, Gingival overgrowth, Malar flattening, Splenomegaly, Vacuolated lymphocytes,... OMIM:248500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Recurrent upper respiratory tract infections, Dental crowding, Persistence o... OMIM:619769
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Hepa... ORPHA:763
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Polysplenia, Obesity, Micrognathia, Facial hemangioma, High palate OMIM:610543
19P13.12 Microdeletion Syndrome
Long philtrum, Obesity, Hyperlipidemia, Hepatic steatosis, Hypodontia, Thin vermilion border, Hyp... ORPHA:254346
3Q27.3 Microdeletion Syndrome
Dental crowding, Narrow mouth, Thin upper lip vermilion, Short philtrum, Mandibular prognathia, D... ORPHA:397695
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... OMIM:261515
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Macrophage Activation Syndrome
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Eleva... ORPHA:158061
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Increased circulating IgE level, Tall stature, Hepatoblastoma, Hepa... ORPHA:373
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Obesity, Protruding tongue... OMIM:105830
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Increased urinary cortisol level, Hyperli... ORPHA:189427
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Fragile X Syndrome
Otitis media, Mandibular prognathia, Chronic otitis media, Sinusitis ORPHA:908
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown... ORPHA:228308
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ane... OMIM:617388
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Obesity... OMIM:157980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:363400
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Oculocerebrorenal Syndrome Of Lowe
Neoplasm of the skin, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hematuri... ORPHA:534
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal pleura morphology, Abnormal lymphocyte morphology, Splen... ORPHA:3162
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Keratitis, Conjunctivitis, High palate, Mandibular pr... OMIM:123500
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Mandibular prognathia ORPHA:2324
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibod... ORPHA:77259
Arthrogryposis, Distal, Type 2A
Whistling appearance, Dental crowding, Dimple chin, Failure to thrive, Pursed lips, Long philtrum... OMIM:193700
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, High palate, Wide mouth, Mandibular prognathia OMIM:612936
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Carious teeth, Delayed eruption of teeth, Failure to thrive, Long philtrum, ... OMIM:214150
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Osteoma, Abnormality of canine, Long philtrum, Thick upper lip vermilion, Adenomatous colonic pol... ORPHA:261584
Arthrogryposis, Distal, Type 2B1
Long philtrum, Micrognathia, Narrow mouth, High palate, Mandibular prognathia OMIM:601680
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Obesity, Micrognathia, Hypercholesterolemia, High palate, Short philtrum ORPHA:254531
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Three M Syndrome 1
Pointed chin, Hypospadias, Long philtrum, Thick lower lip vermilion, Malar flattening, Mandibular... OMIM:273750
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Retrognathia, Long philtrum, Diastema, Macrodontia, Midfrontal capillary heman... OMIM:212066
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Nance-Horan Syndrome
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia ORPHA:627
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil... ORPHA:1193
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Downturned corners of mouth, Widely spaced teeth, Open mouth, Macroglossia... ORPHA:369891
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administrati... OMIM:612462
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Gout, ... ORPHA:412
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Lymphoma, Hepatic steatosis, Proteinuria, Astrocytoma, ...