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Gene: Smg1 MGI:1919742

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

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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		Smg1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00
increased circulating bilirubin level		Smg1^{tm1b(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.

Anti-nuclear antibody assay

Images

1 Images

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DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images

Smg1^{tm1b(EUCOMM)Hmgu}
abnormal eye morphology, eye opacity, corneal opacity, eye, HET, Male, WTSI

Smg1^{tm1b(EUCOMM)Hmgu}
snout, head, abnormal snout morphology, short snout, HET, Male, WTSI

Smg1^{tm1b(EUCOMM)Hmgu}
corneal opacity, eye, abnormal eye morphology, eye opacity, WT, Female, WTSI

Smg1^{tm1b(EUCOMM)Hmgu}
head, abnormal snout morphology, asymmetric snout, WT, Female, WTSI

Smg1^{tm1b(EUCOMM)Hmgu}
head, abnormal snout morphology, upturned snout, WT, Female, WTSI

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.

Human diseases associated with Smg1 (0 diseases)
Human diseases predicted to be associated with Smg1 (1382 diseases)

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	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated 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
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
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	Hyperleucinemia, Hyperisoleucinemia	OMIM:615135
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11	Increased serum bile acid concentration, Abnormal circulating bilirubin concentration	OMIM:619874
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid...	OMIM:605814
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:620010
Tumor Predisposition Syndrome 1	Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela...	OMIM:614327
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Sotos syndrome	Mandibular prognathia, Tall stature	DECIPHER:17
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Micrognath...	OMIM:301045
Aredyld Syndrome	Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Cachexia, Abnormality of the...	ORPHA:1133
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ...	OMIM:619868
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Lung Cancer	Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma	OMIM:211980
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ...	OMIM:619750
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul...	OMIM:618913
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation	Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular...	OMIM:226440
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chro...	OMIM:608971
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis...	OMIM:614480
Immunodeficiency 61	Arthritis, Recurrent sinusitis, Agammaglobulinemia, Colon cancer, Recurrent otitis media, Obesity...	OMIM:300310
Alpha-Mannosidosis	Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Craniofacial hyperostosis,...	ORPHA:61
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Everted lower lip vermilion, Short philtrum, Truncal obesity, Mandibular prognathia, ...	ORPHA:2429
Marfanoid Habitus With Microcephaly And Glomerulonephritis	High palate, High, narrow palate, Disproportionate tall stature, Renal insufficiency, Glomerulone...	OMIM:248760
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Intellectual Developmental Disorder, Autosomal Recessive 41	High palate, Hepatomegaly, Splenomegaly, Retrognathia, Recurrent pneumonia, Mandibular prognathia	OMIM:615637
Permanent Molars, Secondary Retention Of	Abnormality of the dentition, Mandibular prognathia	OMIM:157950
Autosomal Dominant Prognathism	Mandibular prognathia, Everted lower lip vermilion, Open bite	ORPHA:2964
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	High palate, Chronic kidney disease, Disproportionate tall stature, Glomerulonephritis, Mandibula...	ORPHA:2172
Bazex Syndrome	Lung adenocarcinoma, Neoplasm, Liposarcoma, Anemia, Lip hyperpigmentation	ORPHA:166113
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Dental crowding, Mandibular prognathia, Atopic dermatitis, Obesity	OMIM:606772
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2027
Fibromatosis, Gingival, With Distinctive Facies	High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir...	OMIM:228560
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p...	ORPHA:158057
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Hepatomegaly, Median cleft palate, Recurrent respiratory infections	ORPHA:2432
Chromosome Xq25 Duplication Syndrome	Thick vermilion border, Mandibular prognathia, Malar flattening, Tall stature	OMIM:300979
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma...	ORPHA:2325
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Intellectual Developmental Disorder, Autosomal Recessive 46	Widely spaced teeth, Mandibular prognathia, Large for gestational age	OMIM:616116
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva...	ORPHA:2025
Pyle Disease	Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs...	OMIM:265900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Malar prominence, Micrognathia, Hepatic steatosis	ORPHA:436182
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils	ORPHA:293964
Aredyld	Mandibular prognathia	OMIM:207780
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Failure to thrive, Recurrent otitis media, Recurrent skin infections, Retrognathia, Recurrent upp...	ORPHA:391372
Macrosomia With Microphthalmia, Lethal	Large for gestational age, Median cleft palate, Respiratory infections in early life	OMIM:248110
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Mantle Cell Lymphoma	Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly	ORPHA:52416
Mental Retardation Syndrome, Belgian Type	Mandibular prognathia, Eunuchoid habitus	OMIM:249599
Immunodeficiency, Common Variable, 2	Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom...	OMIM:240500
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors, Mandibular pro...	ORPHA:397973
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis	ORPHA:2026
Maxillofacial Dysostosis	Mandibular prognathia	OMIM:155000
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Mental Retardation, Buenos Aires Type	High palate, Wide mouth, Dental malocclusion, Failure to thrive, Intrahepatic biliary atresia, Hy...	OMIM:249630
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom...	OMIM:300853
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Birth length greater than 97th percentile, Overgrowth, Tall stature	OMIM:618786
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ...	OMIM:610717
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Growth Hormone Insensitivity Syndrome	Failure to thrive, Hypoplasia of penis, Everted lower lip vermilion, Delayed eruption of teeth, T...	ORPHA:181393
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Phenobarbital Embryopathy	Hypospadias, Unilateral cleft lip, Mandibular prognathia, Malar flattening	ORPHA:1919
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Adrenocortical Carcinoma	Lung adenocarcinoma, Hypokalemia, Adrenocortical carcinoma, Increased body weight, Weight loss, A...	ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Thick lower lip vermilion	OMIM:309545
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating C-reactive protein concentration, Absent isohemagglutinin leve...	OMIM:615559
Immunodeficiency 48	Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, P...	OMIM:269840
Asbestos Intoxication	Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,...	ORPHA:2302
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	High palate, Dental crowding, Overjet, Decreased body weight, Hepatomegaly, Persistence of primar...	OMIM:618342
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,...	OMIM:616829
Familial Scaphocephaly Syndrome, Mcgillivray Type	High palate, Mandibular prognathia, Open bite	ORPHA:168624
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Trismus-Pseudocamptodactyly Syndrome	Mandibular prognathia	ORPHA:3377
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E...	OMIM:619048
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Hepatic Veno-Occlusive Disease	Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr...	ORPHA:890
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatomegaly, Macroglossia, Proportionate tall stature, Cirrhosis, Increased C...	ORPHA:528
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Otodental Syndrome	Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion...	ORPHA:2791
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Short philtrum, Cachexia, Abnormal palate morpholog...	ORPHA:2471
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	High palate, Mandibular prognathia, Dental malocclusion, Pointed chin	OMIM:618292
Wilson Disease	Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thromboc...	ORPHA:905
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele...	OMIM:617156
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Oral cleft	ORPHA:3434
Xq25 Microduplication Syndrome	Thick vermilion border, Mandibular prognathia, Malar flattening	ORPHA:521258
Perlman Syndrome	Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Tall statur...	ORPHA:2849
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Nodular Lymphocyte Predominant Hodgkin Lymphoma	B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop...	ORPHA:86893
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:616278
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence...	OMIM:259710
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy, Esophageal carcinoma, Barrett esophagus	ORPHA:99976
Carcinoma Of Esophagus	Esophageal neoplasm, Barrett esophagus, Obesity, Weight loss, Lymphadenopathy	ORPHA:70482
48,Xxyy Syndrome	Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal...	ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic 14	High palate, Slender build, Tall stature, Hypoplasia of the maxilla, Mandibular prognathia	OMIM:300676
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Neoplasm, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Tooth malposition, Micropenis, Abnormality of dental morphology, Obesity	ORPHA:85274
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Increased circulating IgE level, Mandibular prognathia, Abnormality of the d...	ORPHA:1858
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,...	OMIM:133180
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:278000
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Long philtrum	OMIM:616269
Leukodystrophy, Hypomyelinating, 17	Thick vermilion border, Mandibular prognathia, Gingival overgrowth, Widely spaced teeth	OMIM:618006
Sclerosteosis 2	Mandibular prognathia	OMIM:614305
Laron Syndrome	Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Mic...	ORPHA:633
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:619386
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Hydronephrosis, Hepat...	OMIM:617093
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur...	OMIM:603471
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr...	OMIM:251880
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Mandibular prognathia	OMIM:619971
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia, He...	OMIM:606069
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Mandibular prognathia	OMIM:619031
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat...	OMIM:614470
Cog7-Cdg	Failure to thrive, Narrow mouth, Hepatomegaly, Small for gestational age, Retrognathia, Micrognat...	ORPHA:79333
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Short philtrum, Decreased circulating antibody level, Cleft palate	ORPHA:85317
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Lymphoproliferative Syndrome 2	Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep...	OMIM:615122
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr...	ORPHA:2972
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos...	OMIM:300635
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Hepatomegaly, Malar flattening, Elevated circulating creatine kinase concentra...	OMIM:614727
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc...	ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste...	OMIM:612526
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Torus palatinus, Craniofacial hyperostosis	ORPHA:2790
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena...	ORPHA:49042
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Obesity, Broad chin, Smooth philtrum	OMIM:301013
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Wide mouth, Everted lower lip vermilion, Retrognathia, Long philtrum, Mandibular prognathia, Thin...	OMIM:619595
Potocki-Lupski Syndrome	High palate, Wide mouth, Dental malocclusion, Failure to thrive, Small for gestational age, Micro...	OMIM:610883
Spastic Paraplegia 50, Autosomal Recessive	High palate, Wide mouth, Short philtrum, Mandibular prognathia	OMIM:612936
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Smith-Magenis Syndrome	Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Increased body weig...	OMIM:182290
Ramon Syndrome	Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dent...	ORPHA:3019
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ...	OMIM:232700
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S...	ORPHA:733
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Cockayne Syndrome Type 2	Anodontia, Widely spaced primary teeth, Hepatomegaly, Hypoplasia of the primary teeth, Conjunctiv...	ORPHA:90322
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat...	ORPHA:66661
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Wide mouth, Obesity, Mandibular prognathia	ORPHA:411515
Familial Adenomatous Polyposis 1	Hepatoblastoma, Adrenocortical adenoma, Carious teeth, Odontoma, Small intestine carcinoid, Adren...	OMIM:175100
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Craniofacial osteosclerosis	OMIM:122860
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Hyperbilirubinemia	OMIM:614300
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Small for gestational age	ORPHA:93950
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos...	OMIM:613490
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Increased body mass index, Delayed eruption of teeth, Increased body weight, Anemia	OMIM:614450
Dental Anomalies And Short Stature	Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ...	OMIM:601216
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Narrow palate	OMIM:617169
Hodgkin Lymphoma	Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy	ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatomegaly, Hepatic failure, Pancytopenia, Hepatic steatosis	OMIM:617872
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Hepatic steatosis	OMIM:615595
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease	Cleft upper lip, Abnormality of the tongue, Malar flattening, Bilateral cleft lip and palate, Lar...	OMIM:601165
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	High palate, Mandibular prognathia, Dental malocclusion	OMIM:608931
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet...	ORPHA:2228
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Tall chin	ORPHA:137831
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple...	OMIM:613101
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology	ORPHA:2180
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Increased body ...	ORPHA:264580
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper...	ORPHA:766
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa...	OMIM:308240
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Hyperostosis Corticalis Generalisata	Mandibular prognathia	ORPHA:3416
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c...	ORPHA:79665
Maxillonasal Dysplasia	Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn...	ORPHA:1248
Smith-Magenis Syndrome	Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Abnormality of the ureter, Short philtr...	ORPHA:819
48,Xxxy Syndrome	Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Tal...	ORPHA:96263
Raynaud-Claes Syndrome	Mandibular prognathia	OMIM:300114
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Tooth agenesis, Microretrognathia, Cleft palate, Micrognathia, Truncal obesity, Cari...	OMIM:618363
Galactosemia Iii	Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja...	OMIM:230350
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Mandibular prog...	OMIM:619040
Pettigrew Syndrome	Thick vermilion border, Wide mouth, Mandibular prognathia	OMIM:304340
Immunodeficiency 64	Failure to thrive, B-cell lymphoma, Decreased circulating IgG level, Increased circulating IgA le...	OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Cutaneous abscess, Decreased circulating IgA level, Persistence of primary teeth, Su...	OMIM:619752
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin	OMIM:618528
Frank-Ter Haar Syndrome	Wide mouth, Gingival overgrowth, Premature loss of teeth, Short philtrum, Delayed eruption of tee...	ORPHA:137834
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Cleft palate, Malar flattening, Short philtrum, Downturned corners of mouth, Mandibular prognathia	ORPHA:94066
Macrocephaly-Developmental Delay Syndrome	High palate, Microretrognathia, Hepatosplenomegaly, Recurrent pneumonia, Mandibular prognathia	ORPHA:397612
Steatocystoma Multiplex With Natal Teeth	Steatocystoma multiplex, Natal tooth	OMIM:184510
Malan Syndrome	Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o...	OMIM:614753
Acromegaloid Facial Appearance Syndrome	Thick vermilion border, Micrognathia, Large for gestational age, Deep philtrum	OMIM:102150
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Lipoyltransferase 1 Deficiency	Increased total bilirubin	OMIM:616299
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Micropenis, Everted low...	OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Abdominal obesity, Wide mouth, Macroglossia, Micropenis, Hypospadias, Mandibular prognathia, Thic...	OMIM:300354
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening	OMIM:600991
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Retrognathia, Open mouth, Obesity, Enuresis, Failure to thrive in infancy	OMIM:613670
Schaaf-Yang Syndrome	Micropenis, Retrognathia, Open mouth, Mandibular prognathia, Abnormality of the philtrum, Obesity...	OMIM:615547
Tatton-Brown-Rahman Syndrome	Proportionate tall stature, Neuroendocrine neoplasm, Myeloid leukemia, Deep philtrum, Mandibular ...	ORPHA:404443
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Lymphoma, Dysgammaglobulinemia, Anemia, Ascites, Lympha...	ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Decreased circulating IgA level, Decreased circulating IgG level, Decrease...	OMIM:300861
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Gingival overgrowth, Polyuria, Dagger-shaped pulp calcifica...	OMIM:204690
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Mandibular prognathia, Pointed chin	OMIM:248000
Temple Syndrome	High palate, Recurrent otitis media, Cleft palate, Small for gestational age, Micrognathia, Short...	OMIM:616222
Beckwith-Wiedemann Syndrome	Wide mouth, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall s...	ORPHA:116
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep...	ORPHA:209902
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci...	ORPHA:882
Pituitary Gigantism	Pituitary growth hormone cell adenoma, Tall stature, Proportionate tall stature, Left ventricular...	ORPHA:99725
Renpenning Syndrome	Narrow mouth, High, narrow palate, Cleft palate, Malar flattening, Hypospadias, Short philtrum, C...	ORPHA:3242
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa...	ORPHA:79303
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Porphyrinuria, Recurrent bacterial skin infections,...	ORPHA:101330
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato...	ORPHA:369840
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl...	OMIM:603552
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, El...	OMIM:613011
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Malar flattening, Obesity, Mandibular prognathia	OMIM:614613
Cockayne Syndrome Type 1	Widely spaced primary teeth, Anodontia, Failure to thrive, Hepatomegaly, Hypoplasia of the primar...	ORPHA:90321
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Cutaneous abscess, Eczematoid dermatitis, Persistence of primary teeth, Skin rash, E...	OMIM:147060
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular ...	ORPHA:370
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Failure to thrive, Methioninuria, Pancreatitis, Tall stature, Disproportionate tall ...	OMIM:236200
Dpm1-Cdg	U-Shaped upper lip vermilion, Failure to thrive, Hepatomegaly, High, narrow palate, Micrognathia,...	ORPHA:79322
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia	OMIM:601466
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca...	ORPHA:2137
Pfapa Syndrome	Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, In...	ORPHA:42642
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H...	ORPHA:369
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T...	OMIM:614582
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H...	OMIM:616828
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular...	ORPHA:247585
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Dental malocclusion, Neoplasm, Fragile teeth, Hypodontia, Micropenis, S...	ORPHA:2959
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ...	OMIM:212140
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum...	OMIM:264475
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome	Malar flattening, Micrognathia, Multiple exostoses, Nephroblastoma, Proteinuria, Dental crowding,...	OMIM:612469
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Burn-Mckeown Syndrome	Cleft upper lip, Narrow mouth, Cleft palate, Unilateral renal agenesis, Micrognathia, Short philt...	OMIM:608572
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedulla...	OMIM:615285
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Long philtrum, Decreased circulating antibody level, Obe...	OMIM:605309
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal cyst, Renal insufficiency, Recurrent otitis media, Obesity, Recurrent respir...	OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Narrow mouth, Hepatomegaly, Micrognathia, Elevated hepatic transaminase, Hypertriglyceridemia, De...	OMIM:615381
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Mandibular prognathia, Tall stature	OMIM:102100
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Abnormality of the dentition, De...	OMIM:203800
Immunodeficiency 33	Increased circulating IgA level, Hypodontia, Decreased circulating total IgM, Delayed eruption of...	OMIM:300636
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin...	ORPHA:364028
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I...	ORPHA:37748
Camptodactyly Syndrome, Guadalajara Type 1	High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu...	ORPHA:1327
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:209950
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Proteus Syndrome	Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Open mouth, Mandibular hyperost...	OMIM:176920
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:264470
Felty Syndrome	Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, ...	ORPHA:47612
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Oral cleft, Mandibular prognathia, Widely-spaced maxillary central...	OMIM:601349
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin...	OMIM:618963
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Hypercholesterolemia, Mandibular prognathia, Overweight, Broad chin	ORPHA:401923
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatomegaly, Splenomegaly, Advanced eruption of teeth, Hypertriglyceridemia, Hepat...	ORPHA:2348
Kleefstra Syndrome	Hypoplasia of penis, Macroglossia, Micropenis, Everted lower lip vermilion, Hypospadias, Malar fl...	ORPHA:261494
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short philtrum, Decreased body weight, Hypoplasia of the maxilla	ORPHA:93945
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Abnormalit...	ORPHA:93111
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:256450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Protein...	ORPHA:79259
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro...	ORPHA:100024
Hemifacial Atrophy, Progressive	Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis	OMIM:614924
Pde4D Haploinsufficiency Syndrome	Malar flattening, Hypospadias, Short philtrum, Micrognathia, Long philtrum, Hypoplasia of the max...	ORPHA:439822
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth	OMIM:613849
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Delayed eruption of teeth, Hypodontia	ORPHA:63442
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k...	ORPHA:42
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep...	OMIM:613313
Catifa Syndrome	Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o...	OMIM:618761
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har...	ORPHA:2521
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega...	OMIM:612714
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Micrognathia, Chronic hepatitis, ...	OMIM:614921
Hemochromatosis Type 4	Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi...	ORPHA:139491
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Sotos Syndrome	High palate, Narrow palate, High, narrow palate, Tall stature, Otitis media, Increased body weigh...	OMIM:117550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Narrow mouth, Hypoplasia of penis, Splenomegaly, Thin vermilion border, Hypospadias, Abnormality ...	ORPHA:1046
Multiple Symmetric Lipomatosis	Multiple lipomas, Hepatomegaly	ORPHA:2398
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr...	OMIM:607616
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level...	OMIM:300400
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph...	ORPHA:1414
Legius Syndrome	Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo...	ORPHA:137605
Infantile Liver Failure Syndrome 1	Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans...	OMIM:615438
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, Hy...	OMIM:619013
Odontotrichoungual-Digital-Palmar Syndrome	Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth	OMIM:601957
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen...	OMIM:255120
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system,...	ORPHA:83469
Classic Mycosis Fungoides	Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Abnormal lymp...	ORPHA:2584
Luscan-Lumish Syndrome	Malar flattening, Overgrowth, Pointed chin, Recurrent otitis media, Mandibular prognathia, Obesity	OMIM:616831
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, High palate, Failure to thrive, Decreased body weight, Micropenis, Micrognathia, ...	OMIM:300534
Xp22.13P22.2 Duplication Syndrome	High palate, Mandibular prognathia, Recurrent upper respiratory tract infections, Truncal obesity	ORPHA:284180
Sulfite Oxidase Deficiency, Isolated	Eczema, Elevated circulating creatine kinase concentration, Delayed eruption of teeth, Decreased ...	OMIM:272300
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Sp...	ORPHA:507
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia	OMIM:214950
Short Stature, Dauber-Argente Type	Short chin, Delayed eruption of teeth, Increased insulin like growth factor binding protein acid ...	OMIM:619489
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia	OMIM:615905
Glycogen Storage Disease Iii	Hyperlipidemia, Hepatomegaly, Malar flattening, Thin vermilion border, Elevated circulating creat...	OMIM:232400
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Dermatomyositis	Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal...	ORPHA:221
Galloway-Mowat Syndrome 5	Nephrotic syndrome, Proteinuria, Mandibular prognathia, Stage 5 chronic kidney disease, Glomerula...	OMIM:617731
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Simpson-Golabi-Behmel Syndrome, Type 2	High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ...	OMIM:300209
Immunodeficiency 52	Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d...	OMIM:617514
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia	OMIM:232800
Central Precocious Puberty	Hypothalamic hamartoma, Overgrowth, Acne, Increased body weight, Obesity	ORPHA:759
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:612463
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Tented upper lip vermilion, Thick lower lip vermilion	OMIM:615828
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple...	ORPHA:567983
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu...	OMIM:256810
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Tooth agenesis, Midshaft hypospadias, Micrognathia, Delayed eruption of teeth, Broad...	ORPHA:2863
Congenital Disorder Of Glycosylation, Type Ik	Thin vermilion border, Micrognathia, Hepatomegaly, Splenomegaly	OMIM:608540
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ...	OMIM:618641
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ...	ORPHA:444463
Mucopolysaccharidosis, Type Ivb	Wide mouth, Hepatomegaly, Recurrent upper respiratory tract infections, Grayish enamel, Carious t...	OMIM:253010
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol...	OMIM:201475
Gorlin Syndrome	Mandibular prognathia, Neoplasm, Carious teeth	ORPHA:377
Achalasia-Microcephaly Syndrome	Micrognathia, Mandibular prognathia	ORPHA:929
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Chilblains,...	OMIM:619487
Mucopolysaccharidosis, Type Iva	Chondroitin sulfate excretion in urine, Wide mouth, Hepatomegaly, Recurrent upper respiratory tra...	OMIM:253000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Hypodontia, Splenomegaly, Oligodontia, Cholestasis, Portal hypertension, Jaundice, ...	ORPHA:59303
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep...	OMIM:619418
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum	OMIM:618732
15Q Overgrowth Syndrome	High palate, Microretrognathia, High, narrow palate, Malar flattening, Disproportionate tall stat...	ORPHA:314585
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis, Proteinuria, Microscopic hematuria	ORPHA:79087
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Nephrolithiasis, Hypodontia, Hypoplasia of penis, Hypospadias, Delayed eruption of teeth	ORPHA:1816
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Failure to thrive, Eczema, Long philtrum, Overgrowth, Mandibular prognathia	OMIM:619721
Immunodeficiency 76	B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr...	OMIM:619164
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Galactose Epimerase Deficiency	Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice	ORPHA:79238
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Branchial cyst, Thin upper lip vermilion, Dental crowding, Mandibular prognathia, Pu...	ORPHA:435938
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Malar flattening, Small for ges...	OMIM:210900
Mitochondrial Myopathy, Infantile, Transient	Failure to thrive, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated circulating cre...	OMIM:500009
49,Xxxyy Syndrome	Eunuchoid habitus, Micropenis, Micrognathia, Recurrent upper respiratory tract infections, Mandib...	ORPHA:261534
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Primary Pigmented Nodular Adrenocortical Disease	Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Fibroadenoma of the breast...	ORPHA:189439
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Small for gestational age, Advanced eruption of teeth, Long penis, Mandibular progna...	OMIM:262190
Cleidocranial Dysplasia	Abnormal dental enamel morphology, Sinusitis, Supernumerary tooth, High, narrow palate, Cleft pal...	ORPHA:1452
Mcdonough Syndrome	Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular prognathia	OMIM:248950
Amelogenesis Imperfecta, Type Ij	Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	OMIM:617297
Gaucher Disease, Type Ii	Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocyt...	OMIM:230900
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep...	ORPHA:79301
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	High palate, Lipoma, Micrognathia, Long philtrum, Chronic otitis media, Pointed chin, Obesity, Th...	ORPHA:480907
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth	OMIM:300143
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati...	OMIM:619644
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ...	OMIM:300972
Classic Hodgkin Lymphoma	Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Weight lo...	ORPHA:391
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	High palate, Failure to thrive, Short philtrum, Long philtrum, Tented upper lip vermilion, Mandib...	OMIM:620001
Macrosomia Adiposa Congenita	Adrenocortical adenoma, Obesity, Eosinophilia, Large for gestational age	OMIM:248100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis, Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Mulibrey Nanism	Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Recurrent lower respiratory tract ...	OMIM:253250
Dermoodontodysplasia	Mandibular prognathia, Tooth agenesis, Microdontia	ORPHA:1660
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Wide mouth, Thin upper lip vermilion, Smooth philtrum, Mandibular prognathia	OMIM:619989
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Eczema, Aplastic anemia, Delayed eruption of tee...	ORPHA:811
Lipodystrophy, Congenital Generalized, Type 1	Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevate...	OMIM:608594
Proteus-Like Syndrome	Exostoses, Splenomegaly, Open bite, Hemangioma, Thymus hyperplasia, Subcutaneous lipoma, Mandibul...	ORPHA:2969
Zechi-Ceide Syndrome	Cleft palate, Thin vermilion border, Short philtrum, Oligodontia, Downturned corners of mouth, Cl...	ORPHA:217017
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Unilateral cleft lip, Mandibular prognathia, Abnormal zygomatic bone morphology, Malar flattening	ORPHA:2511
Infantile Sialic Acid Storage Disease	High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated...	OMIM:269920
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Chronic otitis media, Otitis media	ORPHA:908
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Hemangioma, Micrognathia, Ele...	OMIM:608799
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circ...	OMIM:618495
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Thyroiditis, Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Auto...	OMIM:619375
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ...	ORPHA:1028
Immunodeficiency 32B	Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections	OMIM:226990
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly...	OMIM:607271
Immunodeficiency, Common Variable, 6	Hepatomegaly, Nephrotic range proteinuria, Macroscopic hematuria, Decreased specific pneumococcal...	OMIM:613496
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 61	High palate, Mandibular prognathia, Conical tooth	OMIM:617773
Combined Immunodeficiency Due To Crac Channel Dysfunction	Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, P...	ORPHA:169090
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss	Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ...	OMIM:603463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Rothmund-Thomson Syndrome	Abnormality of the dentition, Aplastic anemia, Delayed eruption of teeth, Microdontia, Carious te...	ORPHA:2909
Lipodystrophy, Congenital Generalized, Type 2	Nephrolithiasis, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Ac...	OMIM:269700
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote...	ORPHA:158061
Christianson Syndrome	Mandibular prognathia, Cachexia	ORPHA:85278
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypospadias, Mandibular prognathia	ORPHA:2252
Adrenomyodystrophy	Pituitary corticotropic cell adenoma, Hepatic steatosis	OMIM:300270
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai...	OMIM:613070
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphoproliferative disorder, Pneumonia, Jaundice, Decreased proportion of naive T ...	ORPHA:276
Coffin-Siris Syndrome 10	Wide mouth, Persistence of primary teeth	OMIM:618506
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:619658
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus...	ORPHA:545
Prolidase Deficiency	High palate, Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly,...	OMIM:170100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat...	OMIM:614700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Nephrolithiasis, Abdominal obesity, Pituitary adenoma, Hyperlipidemia, Neuroendocrine neoplasm, R...	ORPHA:189427
Classic Multiminicore Myopathy	High palate, Failure to thrive, Microretrognathia, Right ventricular hypertrophy, Mandibular prog...	ORPHA:324604
Leukocyte Adhesion Deficiency Type Ii	Keratitis, Premature loss of teeth, Gingival overgrowth, Narrow palate, Hepatomegaly, Long upper ...	ORPHA:99843
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro...	ORPHA:3226
Mannosidosis, Alpha B, Lysosomal	Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Malar flat...	OMIM:248500
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles...	ORPHA:53693
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies	High palate, Dental malocclusion, Cleft palate, Long philtrum, Failure to thrive in infancy, Uret...	OMIM:618975
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Downturned corners of mouth, Mandibular prognathia, Short philtrum, Malar flattening	OMIM:618672
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, High palate, Supernumerary tooth, Small for gestational age, Micrognathia, Agen...	OMIM:268400
Momo Syndrome	High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Tall stature, Long phil...	ORPHA:2563
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Everted lower lip vermilion, Short philtrum, Long philtrum, Thick vermilion ...	OMIM:619880
3Q27.3 Microdeletion Syndrome	Narrow mouth, Disproportionate tall stature, Short philtrum, Dental crowding, Mandibular prognath...	ORPHA:397695
Noonan Syndrome 5	Thick vermilion border, Wide mouth, Large for gestational age, Mandibular prognathia	OMIM:611553
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue, Obesity, Mandibular prognathia	ORPHA:411511
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Lymphopenia, Increased circulating IgA level, Eclabion, Carious teeth, Abdomin...	OMIM:616395
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice	OMIM:234350
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe...	ORPHA:209919
Immunodeficiency 16	Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
49,Xxxxy Syndrome	Abnormal dental enamel morphology, Taurodontia, Hypoplasia of penis, Cleft palate, Open bite, Del...	ORPHA:96264
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
X-Linked Non-Syndromic Intellectual Disability	Small for gestational age, Urinary incontinence, Long philtrum, Delayed eruption of teeth, Obesit...	ORPHA:777
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly	ORPHA:363400
Familial Multiple Lipomatosis	Hyperlipidemia, Medulloblastoma, Premature eruption of permanent teeth, Odontogenic keratocysts o...	ORPHA:199276
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Simpson-Golabi-Behmel Syndrome	Wide mouth, Hepatomegaly, Hepatoblastoma, Cleft palate, Tall stature, Mandibular prognathia, Poly...	ORPHA:373
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand...	OMIM:105830
Gm1 Gangliosidosis	Failure to thrive, Narrow mouth, Gingival overgrowth, Macroglossia, Splenomegaly, Aspiration pneu...	ORPHA:354
Bardet-Biedl Syndrome 21	Hypodontia, Abnormality of the dentition, Elevated hepatic transaminase, Horseshoe kidney, Obesit...	OMIM:617406
Trichothiodystrophy 5, Nonphotosensitive	Wide mouth, Widely spaced primary teeth, Micropenis, Decreased circulating antibody level, Mandib...	OMIM:300953
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased...	OMIM:617388
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy	OMIM:618852
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E...	ORPHA:228305
Prognathism, Mandibular	Mandibular prognathia, Thick lower lip vermilion	OMIM:176700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ...	OMIM:600649
Zimmermann-Laband Syndrome 1	Nephrolithiasis, High palate, Wide mouth, Gingival overgrowth, Hepatomegaly, Splenomegaly, Short ...	OMIM:135500
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Adenomatous colonic polyposis, High palate, Thick upper lip vermilion, Narrow mouth, Hepatoblasto...	ORPHA:261584
Mucopolysaccharidosis-Plus Syndrome	Nephrotic syndrome, Hepatomegaly, Nephritis, Recurrent bronchopulmonary infections, Splenomegaly,...	OMIM:617303
Hennekam Syndrome	Lymphangioma, Short philtrum, Delayed eruption of teeth, Horseshoe kidney, Tooth agenesis, Spleno...	ORPHA:2136
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia	OMIM:617183
Wilson Disease	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly...	OMIM:277900
Chromosome 16P13.3 Deletion Syndrome, Proximal	High palate, Failure to thrive, Micrognathia, Facial hemangioma, Obesity, Polysplenia	OMIM:610543
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 2	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy...	OMIM:601847
Arthrogryposis, Distal, Type 2A	High palate, Failure to thrive, Narrow mouth, Pursed lips, Malar flattening, Small for gestationa...	OMIM:193700
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Absence of lymph node germinal center, Decreased circulating IgE, Decreased circula...	OMIM:308230
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala...	ORPHA:228308
Interstitial Lung And Liver Disease	Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva...	OMIM:615486
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hypodontia, Cleft palate, Thin vermilion border, Hypospadias, Long philtrum, Obes...	ORPHA:254346
Peroxisome Biogenesis Disorder 13A (Zellweger)	Micrognathia, Hepatomegaly, Jaundice, Cholestasis	OMIM:614887
Pycnodysostosis	High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon...	ORPHA:763
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Cleft palate, Skin rash, Abnormality of the dentition, Eosinophilia, Eczema, Delay...	ORPHA:2314
Sézary Syndrome	Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Abno...	ORPHA:3162
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up...	OMIM:618622
Acquired Generalized Lipodystrophy	Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Lymphoma, Acute pancreatitis, ...	ORPHA:79086
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Wide mouth, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned co...	OMIM:619720
Teebi Hypertelorism Syndrome 2	High palate, Cleft palate, Everted lower lip vermilion, Hypospadias, Microdontia, Delayed eruptio...	OMIM:619736
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Obesity, Lo...	OMIM:612462
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P...	OMIM:105200
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron	ORPHA:98870
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob...	ORPHA:73272
Paganini-Miozzo Syndrome	Thin vermilion border, Mandibular prognathia, Downturned corners of mouth, Urinary incontinence	OMIM:301025
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Micrognathia, Microdontia, Biliary tract abnormality, A...	ORPHA:3191
Three M Syndrome 1	Malar flattening, Small for gestational age, Hypospadias, Long philtrum, Pointed chin, Mandibular...	OMIM:273750
Hemochromatosis, Type 2A

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