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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.

DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

1 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 (1314 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 glycine concentration, Abnormal circulating cysteine 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
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	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Sotos syndrome	Mandibular prognathia, Tall stature	DECIPHER:17
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ...	OMIM:619750
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Pulmonary fibrosis, Hypop...	OMIM:618913
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym...	OMIM:608971
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Retrognathia	OMIM:615637
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Recurrent respiratory infections,...	ORPHA:61
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v...	ORPHA:2429
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Micrognathia, Carious teeth, Pierre-Robin sequence, Obe...	OMIM:618363
Permanent Molars, Secondary Retention Of	Mandibular prognathia, Abnormality of the dentition	OMIM:157950
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Mandibular prognathia, Atopic dermatitis, Dental crowding, Obesity	OMIM:606772
Bazex Syndrome	Lung adenocarcinoma, Neoplasm, Lip hyperpigmentation, Anemia, Liposarcoma	ORPHA:166113
Autosomal Dominant Prognathism	Mandibular prognathia, Everted lower lip vermilion, Open bite	ORPHA:2964
Chromosome Xq25 Duplication Syndrome	Mandibular prognathia, Malar flattening, Thick vermilion border, Tall stature	OMIM:300979
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Mandibular prognathia, Glomerulonephritis, Chronic kidney disease, Disproportionate tall stature,...	ORPHA:2172
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Intellectual Developmental Disorder, Autosomal Recessive 46	Mandibular prognathia, Widely spaced teeth, Large for gestational age	OMIM:616116
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Recurrent respiratory infections, Median cleft palate, Large for gestational age	ORPHA:2432
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Recurrent skin infections, Decreased serum iron, Overwe...	ORPHA:391372
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Malar prominence, Hypertriglyceridemia, Hepatic steatosis, Micrognathia	ORPHA:436182
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Aredyld	Mandibular prognathia	OMIM:207780
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors, Atopic dermatitis, ...	ORPHA:397973
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis...	OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Asbestos Intoxication	Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor...	ORPHA:2302
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Skin rash, Splenomegaly	OMIM:619175
Maxillofacial Dysostosis	Mandibular prognathia	OMIM:155000
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, H...	ORPHA:1501
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Premature osteoarthritis, Hip osteoarthritis, Exostoses	OMIM:165800
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden...	ORPHA:397596
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Birth length greater than 97th percentile, Overgrowth, Tall stature	OMIM:618786
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth	OMIM:309545
Phenobarbital Embryopathy	Mandibular prognathia, Malar flattening, Unilateral cleft lip, Hypospadias	ORPHA:1919
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, High palate, Open bite	ORPHA:168624
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate am...	OMIM:619048
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Trismus-Pseudocamptodactyly Syndrome	Mandibular prognathia	ORPHA:3377
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Xq25 Microduplication Syndrome	Mandibular prognathia, Malar flattening, Thick vermilion border	ORPHA:521258
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,...	OMIM:618342
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Obesity, Lymphadenopathy	ORPHA:99976
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Ab...	ORPHA:2471
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hepatomegaly, Hypertriglyceridemia, Macroglossia, Proportionate tall statu...	ORPHA:528
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Abno...	ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Slender build, Tall stature	OMIM:300676
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Pointed chin, High palate, Dental malocclusion	OMIM:618292
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ho...	OMIM:620282
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Mandibular prognathia	OMIM:619031
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure to thrive	ORPHA:172
Perlman Syndrome	Hepatomegaly, Tall stature, Hypoplasia of penis, Nephroblastoma, Micrognathia, High, narrow palat...	ORPHA:2849
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Abnormal dental morphology, Obesity, Micropenis, Tooth malposition	ORPHA:85274
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Increased circulating IgE level, Dental malocclusion, Abnormality of the d...	ORPHA:1858
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Long philtrum	OMIM:616269
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Orofacial cleft	ORPHA:3434
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ...	ORPHA:86893
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hyponatremia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:620157
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Small for gestational age, Micrognathia, Dental malocclus...	OMIM:610883
Leukodystrophy, Hypomyelinating, 17	Mandibular prognathia, Thick vermilion border, Widely spaced teeth, Gingival overgrowth	OMIM:618006
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Broad chin, Obesity, Smooth philtrum	OMIM:301013
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Mandibular prognathia, Recurrent aspiration pneumonia	OMIM:619971
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Tooth agenesis, Tru...	ORPHA:633
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Failure to thrive, Micrognathia	OMIM:604317
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Short philtrum, Cleft palate, Decreased circulating antibody level	ORPHA:85317
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory...	OMIM:614470
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste...	OMIM:606069
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Persistence of ...	OMIM:259710
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Elevat...	ORPHA:79333
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:614727
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Recurrent respiratory infectio...	OMIM:300635
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, Increased level of methy...	ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Long ph...	OMIM:619595
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Torus palatinus	ORPHA:2790
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Hypercholesterolemia, A...	OMIM:182290
Sclerosteosis 2	Mandibular prognathia	OMIM:614305
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Wide mouth, Obesity	ORPHA:411515
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic...	OMIM:619824
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Uveitis, Widely spaced pr...	ORPHA:90322
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight	ORPHA:93950
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Craniofacial osteosclerosis	OMIM:122860
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Hypertriglyceridemia, Failure to thrive in inf...	ORPHA:819
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Tall chin	ORPHA:137831
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Narrow palate	OMIM:617169
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Increased body weight, Macroglossia, Anemia	OMIM:614450
Myofibrillar Myopathy 10	Mandibular prognathia, Left ventricular hypertrophy, Elevated circulating creatine kinase concent...	OMIM:619040
Bardet-Biedl Syndrome 19	Renal insufficiency, Obesity, Renal hypoplasia, Hepatic steatosis, Hydronephrosis	OMIM:615996
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Cleft palate, Downturned corners of mouth, Short philtrum, Malar flattening	ORPHA:94066
Congenital Macroglossia	Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage	ORPHA:2430
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of...	ORPHA:96263
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Deep philtrum, Obesity, Widely-spaced maxillary central incisors, Proporti...	ORPHA:404443
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci...	OMIM:608709
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Hyperostosis Corticalis Generalisata	Mandibular prognathia	ORPHA:3416
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening	ORPHA:2180
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Microretrognathia, Recurrent pneumonia, Hepatosplenomegaly, High palate	ORPHA:397612
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Steatocystoma Multiplex With Natal Teeth	Steatocystoma multiplex, Natal tooth	OMIM:184510
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcemia, Ascite...	ORPHA:100025
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Gingival overgrowth, Wide mouth, Short ph...	ORPHA:137834
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Mandibular prognathia, Pointed chin, Calcium oxalate nephrolithiasis	OMIM:248000
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, ...	OMIM:300310
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity, Enuresis, Malar flattening, Open mouth, Retrognathia	OMIM:613670
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Lipodystrophy, Familial Partial, Type 6	Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c...	OMIM:615980
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Persistence of primary teeth, Supernu...	OMIM:619752
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Protruding ton...	OMIM:610253
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Decreased circulating total IgM, Decreased circulating IgG level, Decrease...	OMIM:300861
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Hypospadias, Thick lower lip vermilion, Wide mouth, Macroglossia, Abdomina...	OMIM:300354
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Failure to thrive in infancy, Obesity, Microp...	OMIM:615547
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Acromegaloid Facial Appearance Syndrome	Large for gestational age, Deep philtrum, Thick vermilion border, Micrognathia	OMIM:102150
Raynaud-Claes Syndrome	Mandibular prognathia	OMIM:300114
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Sho...	ORPHA:3242
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Elevated circulating cre...	ORPHA:79322
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Rec...	ORPHA:101330
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Pituitary Gigantism	Mandibular prognathia, Proportionate tall stature, Pituitary prolactin cell adenoma, Pituitary gr...	ORPHA:99725
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Dental crowding, Homocystinuria, Methioninuria, Hyperhomocystinemia, Disproportionate tall statur...	OMIM:236200
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Renal insu...	ORPHA:90321
Galloway-Mowat Syndrome 5	Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:617731
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Increa...	OMIM:147060
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Narrow palate, Micropenis, Short upper lip, Thick vermilion...	ORPHA:364028
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr...	OMIM:603552
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Cardiomegaly, Large for gestational age, Leiomyosarc...	ORPHA:116
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Familial Adenomatous Polyposis 1	Astrocytoma, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Medulloblastoma, Fibro...	OMIM:175100
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Small for gestational age, Selective too...	ORPHA:2959
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614921
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dental crowding, Micrognathia,...	OMIM:615381
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Burn-Mckeown Syndrome	Mandibular prognathia, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Renal hypoplasia...	OMIM:608572
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Abnor...	ORPHA:42642
Wagro Syndrome	Mandibular prognathia, Dental crowding, Multiple exostoses, Proteinuria, Micrognathia, Obesity, M...	OMIM:612469
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Luscan-Lumish Syndrome	Mandibular prognathia, Obesity, Overgrowth, Recurrent otitis media, Malar flattening, Pointed chin	OMIM:616831
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas...	ORPHA:79405
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Mandibular prognathia, Tall stature	OMIM:102100
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Malar flattening, Hypospadias, Obesity	OMIM:614613
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Advanced eruption of teeth, Hepatic steatosis, ...	ORPHA:2348
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre...	OMIM:500009
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Tented upper ...	ORPHA:261494
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight	ORPHA:93945
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circula...	ORPHA:37748
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Lymphangioma, Facial...	OMIM:176920
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insuffi...	ORPHA:93111
Immunodeficiency 33	Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ...	OMIM:300636
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Overweight, Broad chin, Renovascular hypertension, Hypercholesterolemia	ORPHA:401923
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp...	OMIM:209950
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, Increased body weight, Hig...	OMIM:117550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen...	OMIM:612714
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Micrognathia, Overgrowth, Nephroblastoma, Enlarged kidney	OMIM:618272
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Abnormality of the ureter, Aplasia/...	ORPHA:1046
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration...	OMIM:618963
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy...	ORPHA:733
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic stea...	ORPHA:210548
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc...	OMIM:613490
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Hypodontia	ORPHA:63442
Paganini-Miozzo Syndrome	Mandibular prognathia, Hyperalaninemia, Urinary incontinence, Downturned corners of mouth, Thin v...	OMIM:301025
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Autism, Susceptibility To, X-Linked 6	Short philtrum, Obesity, Narrow mouth	OMIM:300872
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to...	OMIM:615438
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Recurrent upper respiratory tract i...	OMIM:210900
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary inters...	OMIM:619013
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ...	ORPHA:221
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Truncal obesity, Recurrent upper respiratory tract infections, High palate	ORPHA:284180
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Increased muscle lipid content, High palate, Failure to...	ORPHA:324604
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Eczema, Elevated circulating creatine kinase concent...	OMIM:272300
Rabin-Pappas Syndrome	Mandibular prognathia, Hyponatremia, Failure to thrive in infancy, Micrognathia, Obesity, Overgro...	OMIM:620155
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Increased insulin like growth factor binding protein acid labile subun...	OMIM:619489
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ...	ORPHA:439822
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Elevated circulating creat...	OMIM:232400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas...	ORPHA:79406
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, ...	OMIM:300534
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Eczema, Overgrowth, Long philtrum, Failure to thrive	OMIM:619721
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, Midshaft hy...	ORPHA:2863
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Dental crowding, Ureterovesical stenosis, Micrognathia,...	ORPHA:314585
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Micrognathia	ORPHA:929
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Branchial cyst, Thin upper lip vermilion, Dental crowding, Hypospadias, Pu...	ORPHA:435938
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Ab...	ORPHA:1452
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612463
Gorlin Syndrome	Mandibular prognathia, Neoplasm, Carious teeth	ORPHA:377
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Gardner Syndrome	Astrocytoma, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros...	ORPHA:79665
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Multiple pulmonary cysts...	OMIM:619418
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Fa...	OMIM:620001
49,Xxxyy Syndrome	Mandibular prognathia, Eunuchoid habitus, Micrognathia, Recurrent upper respiratory tract infecti...	ORPHA:261534
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Smooth philtrum	OMIM:619989
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hep...	ORPHA:79259
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia	ORPHA:1816
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Micrognathia, Obesity, High palate, Long philtrum, Lipoma, Pointed chin...	ORPHA:480907
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Recurrent upper respiratory t...	OMIM:253000
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Open mouth, Tented upper lip vermilion, Dental crowding	OMIM:300143
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Long penis, High palate, Advanced eruption of t...	OMIM:262190
Acquired Partial Lipodystrophy	Microscopic hematuria, Hepatic steatosis, Lymphocytosis, Proteinuria	ORPHA:79087
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t...	ORPHA:137605
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Hyperlipidemia, Port...	ORPHA:369
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone mar...	ORPHA:391
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Bronchogenic cyst, Hemangioma...	ORPHA:2969
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplastic ...	OMIM:253250
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutr...	OMIM:619644
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Macroglossia, Ab...	ORPHA:254864
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas...	ORPHA:79411
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Chronic otitis media, Otitis media	ORPHA:908
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L...	OMIM:618495
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo...	OMIM:269920
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Malar flattening, Unilateral cleft lip, Abnormal zygomatic bone morphology	ORPHA:2511
Dermoodontodysplasia	Mandibular prognathia, Tooth agenesis, Microdontia	ORPHA:1660
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hepatic t...	OMIM:608594
Intellectual Developmental Disorder, Autosomal Recessive 61	Mandibular prognathia, High palate, Conical tooth	OMIM:617773
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Rothmund-Thomson Syndrome	Aplastic anemia, Selective tooth agenesis, Squamous cell carcinoma, Neutropenia, Microdontia, Cal...	ORPHA:2909
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu...	OMIM:605309
Christianson Syndrome	Mandibular prognathia, Cachexia	ORPHA:85278
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Malar flattening, Short philtrum, Downturned corners of mouth	OMIM:618672
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis	ORPHA:280356
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Oral ulcer, Leukopenia, Neu...	ORPHA:811
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Respiratory trac...	OMIM:618975
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Micrognathia, Overweight, Obesity, Cleft palate,...	OMIM:616222
Zechi-Ceide Syndrome	Mandibular prognathia, Cleft lip, Cleft palate, Downturned corners of mouth, Oligodontia, Thin ve...	ORPHA:217017
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ...	OMIM:613496
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Micrognathia...	OMIM:170100
Gm1 Gangliosidosis	Mandibular prognathia, Recurrent respiratory infections, Narrow mouth, Splenomegaly, Gingival ove...	ORPHA:354
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hepatic t...	OMIM:269700
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent skin i...	OMIM:620210
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Mandibular prognathia, High, narrow palate, Thick vermilion border, Everted lower lip vermilion, ...	OMIM:619880
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Thick lower lip vermilion, Tented upper lip vermilion, High palate	OMIM:615828
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Hypocalcifica...	ORPHA:169090
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth	ORPHA:411511
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Trichothiodystrophy 3, Photosensitive	Natal tooth, Failure to thrive, Increased circulating IgA level, Carious teeth, Abdominal adhesio...	OMIM:616395
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Abnormal dental mo...	ORPHA:2136
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophil...	ORPHA:2314
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Neutrophilia, Severe periodontitis, Small for gestational ag...	ORPHA:99843
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of...	ORPHA:96264
Noonan Syndrome 5	Mandibular prognathia, Wide mouth, Thick vermilion border, Large for gestational age	OMIM:611553
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia	OMIM:617183
Chromosome 16P13.3 Deletion Syndrome, Proximal	Micrognathia, Obesity, High palate, Polysplenia, Failure to thrive, Facial hemangioma	OMIM:610543
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, D...	OMIM:248500
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypospadias	ORPHA:2252
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Abnormality of the dentition, Overweight, Obesity, Horseshoe kidne...	OMIM:617406
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern...	OMIM:268400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Chin with horizon...	OMIM:619736
Prognathism, Mandibular	Mandibular prognathia, Thick lower lip vermilion	OMIM:176700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased circulating free fatty acid level, Large for gestational age, Enlarged tonsils, Truncal...	ORPHA:293964
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Focal segmental glomerulosclerosis, ...	OMIM:617303
Immunodeficiency 16	Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ...	OMIM:308230
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Hyperlipidemia, Medulloblastoma, Overgrowth, Premature erupti...	ORPHA:199276
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Narrow palate	OMIM:615516
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ...	ORPHA:75564
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Narrow ...	OMIM:619720
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Pituitary adenoma, Hyperlipidemia, Increased body weight,...	ORPHA:189427
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip,...	OMIM:618622
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Disproportionate tall stature, ...	ORPHA:397695
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Very long chain fatty acid accumu...	OMIM:261515
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Recurrent upper respiratory tract infe...	OMIM:619769
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, High, narrow palate, Neoplasm, ...	ORPHA:373
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
19P13.12 Microdeletion Syndrome	Hypospadias, Hyperlipidemia, Obesity, Cleft palate, Thin vermilion border, Hypodontia, Long philt...	ORPHA:254346
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Obesity, High palate, Short philtrum, Recurrent otitis media, Hypercholesterolemia	ORPHA:254531
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide mouth, Macrogl...	OMIM:105830
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Long penis, Gingiva...	OMIM:135500
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, O...	ORPHA:534
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of permanent teet...	ORPHA:839
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Momo Syndrome	Delayed eruption of teeth, Tall stature, Large for gestational age, Thick lower lip vermilion, De...	ORPHA:2563
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Recurrent upper respiratory t...	OMIM:253010
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ...	OMIM:157980
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Abnormal pleura morpholog...	ORPHA:3162
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Micrognathia, High palate, Narrow mouth, Long philtrum	OMIM:601680
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Small for gestational age, Micrognathia, Carious teeth, Recurrent pneu...	OMIM:214150
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Recurrent respiratory infections, Dental crowding, Small for ...	OMIM:193700
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Wide mouth, High palate, Short philtrum	OMIM:612936
Three M Syndrome 1	Mandibular prognathia, Small for gestational age, Hypospadias, Thick lower lip vermilion, Long ph...	OMIM:273750
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Failure to thrive, Macrodontia, Protruding tongue, Diastema, Gingival over...	OMIM:212066
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia	ORPHA:2324
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Keratitis, High palate, Conjun...	OMIM:123500
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, L...	ORPHA:3261
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Subaortic Stenosis-Short Stature Syndrome	Acne, Micrognathia, Biliary tract abnormality, Obesity, Microdontia, Abnormal circulating lipid c...	ORPHA:3191
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Hypertriglyceridemia, Proteinuria, Lymphoma, Panni...	ORPHA:79086
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respo...	OMIM:612462
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrho...	OMIM:301072
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Micrognathia, Truncal obesity, Failure to t...	ORPHA:73272
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Bardet-Biedl Syndrome 7	Malar flattening, Obesity, Narrow mouth	OMIM:615984
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Abnorm...	ORPHA:2315
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Orofacial cleft, Hepati...	OMIM:615630
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulatin...	OMIM:614576
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Downturned corners of mouth, Macroglossia, Wide mouth, Widely spaced teeth...	ORPHA:369891
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function	ORPHA:70472
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Hydronephrosis	OMIM:619797
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Thrombo...	ORPHA:2123
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Bardet-Biedl Syndrome 4	Obesity, Renal cyst, Abnormality of the dentition	OMIM:615982
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Chronic decreased circulating IgG1, Wide mouth, Widely spaced primary teet...	OMIM:300953
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Galactose Mutarotase Deficiency	Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Monosomy 18Q	Mandibular prognathia, Astrocytoma, Micropenis, Downturned corners of mouth, Wide mouth, Thick ve...	ORPHA:1600
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, H...	ORPHA:3079
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Everted lower li...	ORPHA:2067
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Abnormal palate morphology, Micrognathia	ORPHA:3082
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Disproportionate tall stature	OMIM:609008
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Elevated circulating alanine aminotransferase con...	OMIM:261680
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Micrognathia, Obesity, Cleft palate, Truncal obesity, High palate, Sho...	ORPHA:96184
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis, Micrognathia, Renal hypoplasia, Lacticaciduria, Wi...	OMIM:604273
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Elevated circulating creatine kinase concentration, Micrognathia, Multiple...	OMIM:617675
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Recurrent otitis media, Autoimmune thrombocytopenia	OMIM:301069
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthritis, Anemia	ORPHA:375
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Lymphoproliferative disorder, ...	OMIM:609981
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Gingival overgr...	OMIM:259775
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Nephrotic range proteinuria	ORPHA:300536
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Oligodontia, Hypoalbuminemia, Vesicoureteral reflux, Pleural lym...	OMIM:235510
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent upper respiratory tract infections, Increased body weight, Thin vermilion border, Long ...	ORPHA:589905
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Obesity, Cleft palate, Downturned corners of mouth, Thin ver...	OMIM:616364
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Nephronophthisis 15	Elevated hepatic transaminase, Obesity, Nephronophthisis	OMIM:614845
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH adm...	OMIM:103580
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Thick ...	OMIM:309900
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He...	OMIM:618549
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati...	OMIM:613179
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum, Short chin	OMIM:618825
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth	ORPHA:98794
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p...	OMIM:152950
Monosomy 13Q34	Hypercalcemia, Hepatic steatosis, Obesity, Micrognathia	ORPHA:96168
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Abnormality of the dentition, Wide mouth, Thick vermilion border, Hemangio...	OMIM:618505
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract...	OMIM:616005
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Mandibular prognathia, Endometrial carcinoma, Ureteral duplication, High, narrow palate, Breast c...	ORPHA:457212
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Hepatic steatosis, Dec...	OMIM:619573
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Fragile X Syndrome	Mandibular prognathia	OMIM:300624
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Inflammatory abnormality o...	ORPHA:79332
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Failure to thrive, Pericar...	OMIM:212065
Scheie Syndrome	Mandibular prognathia	OMIM:607016
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Micrognathia, Large for gestational age, Microvesicular hepatic steatosis, Birth le...	OMIM:300868
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc...	ORPHA:99889
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Leopard Syndrome 2	Mandibular prognathia, Thick lower lip vermilion	OMIM:611554
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, 3-Methylglutaconic aciduria, Micrognathia	ORPHA:496790
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Failure to ...	ORPHA:79312
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, T...	ORPHA:39041
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Elevated circulating creatine concentration, Malar flattening, Failure to ...	OMIM:300352
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Failure to thr...	OMIM:601808
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Micrognathia, Abnormality of canine, Desmoid tumors, Iron deficiency anemi...	ORPHA:261584
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue f...	OMIM:614922
Barth Syndrome	Mandibular prognathia, Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutaconic acid...	OMIM:302060
Progeroid Syndrome, Petty Type	Mandibular prognathia, Tooth agenesis, Failure to thrive, Everted lower lip vermilion	ORPHA:2963
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Chanarin-Dorfman Syndrome	Hepatomegaly, Everted lower lip vermilion, Hepatic steatosis	OMIM:275630
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Micropenis, Downturned corners of ...	OMIM:156200
Sclerosteosis 1	Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Overg...	OMIM:269500
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Steatocystoma multiplex, Advanced eruption of teeth, Failure to t...	ORPHA:2309
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:613812
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Calvarial osteosclerosis, Tooth malposition, Dental crowding	OMIM:123000
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ...	ORPHA:53715
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Recurrent pneumonia, Thick vermilion border, Obesity	OMIM:618493
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan...	ORPHA:276556
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, ...	OMIM:617591
Neuronal Intestinal Pseudoobstruction	Natal tooth, Decreased circulating antibody level	ORPHA:99811
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr...	ORPHA:69663
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestin...	ORPHA:79409
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Squamous cell carcinoma, High palate, Neutropenia, Microdontia, Calcinosis, Abno...	ORPHA:221016
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Everted lower lip vermilion, Short...	OMIM:601499
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan...	ORPHA:276575
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, High, na...	ORPHA:464738
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Ly...	OMIM:619991
Codas Syndrome	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho...	ORPHA:1458
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Recurrent respiratory infe...	ORPHA:329178
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Retrognathia, Renal hypoplasia, Micrognathia	OMIM:618914
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Micrognathia, Spleno...	ORPHA:280365
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Hypospadias, Thick lower lip vermilion, Submucous cleft hard palate, Horse...	OMIM:619103
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening	OMIM:614592
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Calcinosis, Aplastic anemia, Abnormal dental enamel morphology, Myelod...	ORPHA:221008
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Malar flattening, Cleft palate, Cleft upper lip	OMIM:268850
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Coloboma	ORPHA:324416
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Senior-Loken Syndrome 9	Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Wagr Syndrome	Displacement of the urethral meatus, Everted lower lip vermilion, Obesity, Micrognathia	ORPHA:893
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Long peni...	ORPHA:769
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Sotos Syndrome	Ureteral duplication, Astrocytoma, No permanent dentition, Tall chin, Neoplasm, Vesicoureteral re...	ORPHA:821
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Increased circulating IgG level, Hypoalbuminem...	ORPHA:2298
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Pan...	OMIM:235255
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Eczema, Carious teeth, Obesity, Organic aciduria, High palate, Long phi...	OMIM:620191
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Mandibular prognathia, Thick lower lip vermilion	ORPHA:2057
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Wide mouth, Thick vermilion border, Tooth malposition, Retrognathia	OMIM:619576
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating...	ORPHA:99901
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Neopl...	ORPHA:2930
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Recurrent respiratory infections, Dental crowding, Unilater...	ORPHA:96170
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Cardiomegaly, Protruding tongue, Everted lower lip vermilion, Smooth philtrum	ORPHA:324410
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum...	ORPHA:435638
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Spondyloenchondrodysplasia	Delayed eruption of teeth, Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pne...	ORPHA:1855
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Micrognathia, Carious teeth, Splen...	OMIM:604173
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Unilateral renal age...	OMIM:101800
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu...	OMIM:618935
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Obesity	ORPHA:329249
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Deep philtrum, Micronodu...	OMIM:606003
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Micrognath...	OMIM:190350
Dubowitz Syndrome	Delayed eruption of teeth, Aplastic anemia, Eczema, Hypospadias, Micrognathia, Carious teeth, Vel...	OMIM:223370
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co...	ORPHA:52430
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia	ORPHA:2831
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pneumonia, Atrophic ga...	OMIM:615846
Tenorio Syndrome	Mandibular prognathia, Recurrent pneumonia, Wide mouth, Macroglossia, Keratoconjunctivitis sicca,...	OMIM:616260
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Hypocalcemia, Abnormal dental enamel morphology	ORPHA:2238
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Emanuel Syndrome	Broad jaw, Recurrent respiratory infections, Chronic oral candidiasis, Dental crowding, Delayed e...	OMIM:609029
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Wide mouth, Thick vermilion border	ORPHA:85290
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick verm...	OMIM:620250
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Renal insufficiency, Proteinuria, Malar prominence, Wide mouth, Hypoplasia...	ORPHA:2715
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Micrognathia, Leukocytosis, Lymphoma, Acute leuk...	ORPHA:99812
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Hyperammonemia, Wide mouth, 3-Methylglutaconic aciduria, Short philtru...	ORPHA:1194
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Hypospadias, Protruding tongue, Absent frontal sinuses, Diastema, Thick lo...	OMIM:301040
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Thick lower lip vermilion	OMIM:210745
3-Methylglutaconic Aciduria, Type Viib	Micrognathia, Trismus, Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia,...	OMIM:616271
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Carious teeth, Splenomegaly, Anemia, Hypocalcemia, Fai...	OMIM:259700
Seckel Syndrome 10	Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen...	ORPHA:444490
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca...	ORPHA:2785
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Macroglossia, Everted lower lip vermilion, Smo...	ORPHA:261144
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the zygomatic bone, High palate, Short philtrum, Open mouth	ORPHA:710
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Carious teeth, Breast carcinoma, Conical incisor, Actinic ...	OMIM:614564
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas...	ORPHA:71
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulo...	OMIM:619525
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine...	ORPHA:94086
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Small for gestational...	OMIM:619148
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Skin rash, Proteinuria, Splenomegaly, Lymphoma, ...	ORPHA:36412
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Horseshoe kidney, Downturned corners of mouth, Wide mouth, Thin vermilion ...	OMIM:300860
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulati...	ORPHA:79644
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Coloboma, Hypoplastic le...	OMIM:220210
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality...	ORPHA:289
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Cachexia, C...	ORPHA:77297
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Colob...	OMIM:618652
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Tall stature, Dental crowding, High, narrow palate, Thick lower lip vermil...	OMIM:309583
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Odontochondrodysplasia 1	Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary hypoplasia, Nephronophthis...	OMIM:184260
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia	OMIM:618087
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hyperphosphaturia, Elevated circulating as...	ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Carpenter Syndrome 1	Hydroureter, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Agen...	OMIM:201000
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor...	ORPHA:2215
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft up...	OMIM:109400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Dental crowding, Hypospadias,...	OMIM:300998
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Thick vermilion border...	OMIM:612921
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Macrodontia, Abnormal dental enamel morphology, Cleft palate, Hypodontia	ORPHA:2916
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Micrognathia, Non-midline cleft lip, Cleft palate, Pulmonary artery atresia	ORPHA:1908
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Nephritis, Eleva...	OMIM:603909
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Elevated ...	ORPHA:400
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Widely spaced teeth, Yellow-brown ...	OMIM:619229
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Large for gestational age, Abnormality of the dentition, Thick lower lip vermilion, ...	ORPHA:261652
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplas...	ORPHA:2063
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Hyd...	ORPHA:247262
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Renal insufficiency, Membranoproliferative glomerulonephritis, Chronic kid...	OMIM:137940
Cockayne Syndrome A	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar...	OMIM:216400
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchie...	OMIM:612387
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Cleft lip, S...	OMIM:251290
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Su...	ORPHA:2712
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Renal hamartoma, Nephroblastoma, Microgn...	OMIM:267000
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hashimoto thyroidi...	OMIM:615688
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria,...	OMIM:133540
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Micrognathia, Increased circulating IgE level, ...	ORPHA:3409
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Coloboma, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, 3...	ORPHA:445038
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macroglos...	ORPHA:309282
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,...	OMIM:150550
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Narrow palate, Agenesis of permanent teeth, Hi...	OMIM:618644
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Hepatomegaly, Ureteropelvic junction obstruction, Elevated circulating...	OMIM:280000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cle...	OMIM:239300
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sk...	OMIM:603553
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Facial capillary hemangioma, Abnormal lung lobation, Renal cyst, H...	OMIM:270400
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-r...	OMIM:612852
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Mandibular prognathia, Open mouth, Urinary incontinence, Decreased body weight	OMIM:300243
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Steatocystoma multiplex, Folliculitis, Oral leukoplakia	OMIM:167210
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Gingiva...	OMIM:619297
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,...	ORPHA:37042
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Hypoplasia of the zygomatic bone, Smooth philtrum	ORPHA:1778
Oculodentodigital Dysplasia	Mandibular prognathia, Neurogenic bladder, Median cleft lip, Abnormal dental enamel morphology, P...	ORPHA:2710
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Obesity, Atopic dermatitis, Oligodont...	ORPHA:412035
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis, Megacystis	ORPHA:977
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Nephrocalcinosis	OMIM:617105
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Obesity, Hydronephrosis, Delayed eruption of permanent teeth, Periodontitis...	OMIM:619269
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin...	ORPHA:335
Waardenburg Syndrome, Type 3	Mandibular prognathia	OMIM:148820
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth, Bone marrow hypocellularity, Slender build, Anemia	OMIM:131300
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth	ORPHA:72
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, I...	OMIM:127550
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Penoscrotal hypospadi...	OMIM:211380
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Supernumerary tooth, Medulloblas...	ORPHA:247806
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:171
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Renal cyst, Hepatoblastoma, Exaggerated median ton...	OMIM:312870
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Short philtrum, Microphallus, Micropenis	OMIM:300486
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Slender build, Small for gestatio...	OMIM:613658
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Branchioskeletogenital Syndrome	Mandibular prognathia, Penoscrotal hypospadias, Ureteral stenosis, Unilateral cleft palate, Abnor...	ORPHA:1299
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Large for gestational age, Wide mouth, Hemangioma, Long philtrum, Open mouth, Short ...	ORPHA:457485
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ...	ORPHA:96092
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Cleft palate, Cleft upper lip	ORPHA:894
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin...	OMIM:210200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi...	OMIM:618278
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Eczema, Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory ...	ORPHA:508542
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Kilquist Syndrome	Mandibular prognathia, Broad chin, Wide mouth, Hypoplasia of teeth	OMIM:619080
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Steroid-dependent nephrotic syndrome, Urinary ...	OMIM:300912
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalan...	ORPHA:348
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Failure to thrive, Dental crowding, Hypospadias, Open bite, Horseshoe kidn...	OMIM:620083
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Sk...	ORPHA:330015
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Ab...	ORPHA:93
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Large ...	OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentra...	ORPHA:14
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Failure to thrive, Neurogenic bladder, Elevated circulating creatine kinase concent...	OMIM:608779
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Neoplasm, Periodontitis, Hepatomegaly, Ble...	ORPHA:1775
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Digeorge Syndrome	Micrognathia, High, narrow palate, Abnormal thymus morphology, High palate, Short philtrum, Hypop...	OMIM:188400
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Failure to thrive in infancy, Micrognathia	ORPHA:2645
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Teeth Present At Birth	Natal tooth	OMIM:187050
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Hamartoma of tongue, Splenomegaly, Atelectasis, Rena...	OMIM:269860
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Failure to thrive, Short philtrum	OMIM:617864
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Hepatomegaly, Tented upper lip vermilion, Micrognathia, Hypoplasia of the ...	ORPHA:96334
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, S...	OMIM:617804
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine...	OMIM:602579
Acromegaly	Mandibular prognathia, Broad jaw, Acne, Dysuria, Abnormality of the dentition, Osteoarthritis, Th...	ORPHA:963
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Failure to thrive,...	OMIM:277440
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus...	ORPHA:367
Short Syndrome	Delayed eruption of teeth, Small for gestational age, Micrognathia, Dental malocclusion, Downturn...	OMIM:269880
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti...	ORPHA:369950
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis	OMIM:231530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo...	OMIM:264700
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Hypospadias, Hypopla...	ORPHA:2588
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Hypospadias, Ectopic kidney, Thick lower lip vermilion, C...	ORPHA:3063
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hep...	ORPHA:231214
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Recurrent lowe...	OMIM:231070
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding	OMIM:101600
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Dental malocclusion, Cleft palate, Narrow...	OMIM:101200
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Small for gestation...	OMIM:277380
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Splenom...	ORPHA:549
Down Syndrome	Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion, Abnormality of the ly...	ORPHA:870
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis	OMIM:616901
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Isolated Ectopia Lentis	Mandibular prognathia, Malar flattening	ORPHA:1885
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Increased serum beta-hexosaminidase	OMIM:252600
Polycythemia Vera	Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Large for gestational age, Disproportionate tall stature, High palate, Mal...	OMIM:617011
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis,...	OMIM:608233
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti...	ORPHA:30391
Weaver Syndrome	Mandibular prognathia, Overgrowth, Dimple chin, Long philtrum, Retrognathia	OMIM:277590
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam...	ORPHA:1031
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Urinary incontinence, Abnormality of the dentition, Micrognathia,...	ORPHA:476126
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Pneumothorax, Micropenis, Neph...	OMIM:617402
Coach Syndrome 2	Hypertension, Hydrocephalus, Coloboma, Chorioretinal coloboma	OMIM:619111
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Recurrent respiratory infections, Micrognat...	ORPHA:2484
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ...	OMIM:104570
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Triangular mouth, High palate, Recurrent lower respiratory tract infection...	ORPHA:98915
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Nephrolithiasis, Delayed eruption of permanent...	ORPHA:521445
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Horseshoe kidney, Hi...	OMIM:300867
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Anauxetic Dysplasia 1	Mandibular prognathia, Macroglossia, Hypodontia, Microdontia, Pointed chin	OMIM:607095
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral re...	OMIM:614527
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Bile duct proliferat...	OMIM:618329
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Insulinoma	Abnormality of the pancreatic islet cells, Increased body weight, Neoplasm of the adrenal gland, ...	ORPHA:97279
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A...	OMIM:305620
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Premature loss of prim...	ORPHA:667
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Hepatoblastoma...	ORPHA:798
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Decreased body weight, Micrognathia, Cardiomegaly, Thr...	OMIM:608013
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Neurogenic bladder, Tented upper lip vermilion, Eczema, High, narrow palat...	ORPHA:488632
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Recurrent respiratory infections, Elevated hepatic transami...	ORPHA:17
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Eruptio...	OMIM:166250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Large for gestational age, Disproportionate tall stature, High palate, Ove...	ORPHA:457359
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Dysuria, Abnormality of the dentition, Pituitary adenoma, Thick...	ORPHA:314769
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Cyclic neutropenia, Chronic pancr...	OMIM:232240
Distal Triplication 15Q	Large for gestational age, Micrognathia, Birth length greater than 97th percentile, Horseshoe kid...	ORPHA:314588
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Eczema, Abnormality of neutrophils, Abnormality of the de...	ORPHA:235
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of...	ORPHA:99228
Monosomy X	Micrognathia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of...	ORPHA:99226
Turner Syndrome	Micrognathia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of...	ORPHA:881
Joubert Syndrome 15	Coloboma, Exencephaly	OMIM:614464
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car...	OMIM:232220
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Horseshoe kidney, Duplication of renal pelvis, Overgrowth, H...	DECIPHER:81
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Wide mouth, Hematuria, Renal...	OMIM:243910
Joubert Syndrome 16	Encephalocele, Coloboma	OMIM:614465
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short philtrum, High palate, Otitis media, Micropenis, Hepatic steatosis, Hy...	OMIM:619475
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus	ORPHA:3044
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Neoplasm, Otitis media, Vesicoureteral reflux, Hypospadias, Pilomatrixoma, Super...	ORPHA:353281
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Oroticac...	OMIM:222700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Leukocytosis, Renal hypoplasia, Downturned corners of mouth, Abdominal obesity...	OMIM:619321
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Micrognathia, Keratoconjunctivitis sicca, Thin vermilion border, Narrow mo...	OMIM:616007
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Small for gestational age, Abnormality of the dentition, Long philtrum, Po...	OMIM:614813
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Malar flattening	OMIM:612813
Aromatase Deficiency	Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Obesity, Hepatic steatosis, Tall ...	ORPHA:91
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, ...	ORPHA:90033
Cornelia De Lange Syndrome 1	Micrognathia, Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widel...	OMIM:122470
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	ORPHA:85450
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Smith-Mccort Dysplasia 2	Mandibular prognathia, Decreased body weight	OMIM:615222
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, ...	ORPHA:552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Fetal ascites, Micrognathia, Deep philtrum, Downturned co...	OMIM:619503
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Facial capillary hemangioma, Cleft palate, Downturned corner...	ORPHA:85276
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Recurrent lower respiratory tract infections, Micrognathia	OMIM:617802
Scheie Syndrome	Hepatomegaly, Splenomegaly, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip vermi...	ORPHA:93474
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hypoalbuminemia, Bifid uvula, Hepatomegaly, Hypospadias, Increased mean platele...	OMIM:222470
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Brachydactyly, Type B1	Micropenis, Delayed eruption of permanent teeth	OMIM:113000
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infections, Failure to thr...	OMIM:618371
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Pettigrew Syndrome	Mandibular prognathia, Thick vermilion border, Wide mouth, Calvarial osteosclerosis	OMIM:304340
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo...	OMIM:619322
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Thin upper lip vermilion, Osteochondroma, Recurrent respiratory infections...	OMIM:150230
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Recurrent otitis media	ORPHA:449291
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Mediastinal lymphad...	ORPHA:809
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Cachexia, Carious teeth, Splenomegaly, Craniofacial oste...	ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia	ORPHA:171866
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy...	OMIM:614424
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Eczema, Cleft palate, Short philtrum, Acne inversa	OMIM:617337
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Calcinosis, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ...	ORPHA:79444
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Portal hyperte...	OMIM:610199
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo...	ORPHA:289157
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest...	OMIM:260400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hypospadias, Micrognathia, Abnormality of the dentition, Cleft palate, Cho...	OMIM:151050
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Microdontia, Advanced e...	OMIM:615873
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Stickler Syndrome	Recurrent respiratory infections, Slender build, Abnormal dental enamel morphology, Cachexia, Mic...	ORPHA:828
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Hallermann-Streiff Syndrome	Natal tooth, Recurrent respiratory infections, Small for gestational age, Selective tooth agenesi...	OMIM:234100
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Gastritis, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Pulmonary hypoplasia, Long ...	OMIM:145420
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Keratoconjunctivitis sic...	OMIM:620370
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
3M Syndrome	Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Everted lower lip verm...	ORPHA:2616
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Left ventricular hypertrophy,...	OMIM:612289
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Jaundice...	OMIM:613095
Oliver Syndrome	Mandibular prognathia, High palate, Short philtrum, Dental malocclusion	ORPHA:2920
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive,...	OMIM:616263
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom...	OMIM:612541
Geroderma Osteodysplastica	Mandibular prognathia, Malar flattening	ORPHA:2078
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Respiratory tract infection, Mediastin...	ORPHA:79128
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti...	OMIM:620296
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Thick lower lip vermilion, Recu...	ORPHA:1465
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Recurrent respiratory infecti...	OMIM:616268
Congenital Erythropoietic Porphyria	Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Squamous cell carcin...	ORPHA:79277
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary interstitial mor...	OMIM:617050
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic...	ORPHA:66634
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int...	OMIM:230800
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Recurrent upper ...	OMIM:253200
Ogden Syndrome	Micrognathia, Cardiomegaly, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anem...	OMIM:300855
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Gonadoblastoma, Nephropathy, Nephroblastoma	OMIM:194072
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Facial capillary hemangioma, Abnormal lung lobation, Advanced ...	ORPHA:818
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop...	ORPHA:464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Pericarditis, Abnormality of th...	OMIM:601088
Atypical Werner Syndrome	Renal neoplasm, Hepatic steatosis, Hypertriglyceridemia, Failure to thrive, Micrognathia, Ovarian...	ORPHA:79474
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal...	OMIM:300896
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology,...	ORPHA:2658
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Narrow mouth, Abnormality of the spleen, Annular pancreas, Obes...	ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Hypospadias, Micrognathia, Re...	ORPHA:508498
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Pelvic kidney, F...	OMIM:247200
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse he...	ORPHA:746
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypo...	OMIM:181270
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Hypoplasia of the zygomatic bone, Short philtrum	OMIM:613603
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Lip pit, Hypodontia, Dimple chin, Abnormal palate morphology	ORPHA:1236
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspirati...	OMIM:230900
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Small for gestational age, Hypoplasia of the max...	OMIM:139210
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Calcinosis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina...	ORPHA:94089
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Abnormality of the dentition, Neutropenia, Short dental root, Malar flatte...	OMIM:271510
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f...	OMIM:611126
Distal Deletion 12Q	Late onset atopic dermatitis, Median cleft lip, Failure to thrive in infancy, Micrognathia, Ectop...	ORPHA:96149
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m...	ORPHA:2673
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Overgrowth, Lipoma, Nephroblastoma	OMIM:612918
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Webb-Dattani Syndrome	Neurogenic bladder, Deep philtrum, Obesity, Hyposthenuria, Hypernatremia, Vesicoureteral reflux, ...	OMIM:615926
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Gapo Syndrome	Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon...	OMIM:230740
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Exaggerated cupid's bow, Micrognathia, Narrow mouth, High palate, Short ph...	OMIM:619512
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Vesicoureteral refl...	OMIM:130650
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El...	OMIM:232300
Diamond-Blackfan Anemia 21	Micrognathia, Erythroid hypoplasia, Thrombocytopenia, Obesity, Narrow mouth, Anemia, Osteosarcoma	OMIM:620072
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Pulmonary hypoplasia, Long...	ORPHA:85201
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypospadias, Cleft palate, Melanoma, Thin vermilion border, Short philtrum...	ORPHA:1449
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Acanthocytosis, Intrahepatic ch...	ORPHA:97280
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, High palate, Bone marrow hypocellula...	OMIM:614520
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Abnormality of t...	ORPHA:568
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Prema...	OMIM:305000
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Malar flattening	OMIM:201180
Pitt-Hopkins Syndrome	Hodgkin lymphoma, Micropenis, Wide mouth, Thick vermilion border, Short philtrum, Esophagitis, Fa...	ORPHA:2896
Meckel Syndrome, Type 1	Accessory spleen, Thin upper lip vermilion, Natal tooth, Malformation of the hepatic ductal plate...	OMIM:249000
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Pituitary adenom...	ORPHA:97278
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Oral ulcer, L...	ORPHA:50918
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatosplenomegaly	ORPHA:313855
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Robinow Syndrome	Multicystic kidney dysplasia, Dental crowding, Small for gestational age, Persistence of primary ...	ORPHA:97360
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L...	OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Wide mouth, High palate, Retrognathia, Hepatic steatosis	OMIM:619934
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Keratoconjunctivitis sicca	ORPHA:43393
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive,...	ORPHA:404454
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Truncal...	OMIM:612474
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Kagami-Ogata Syndrome	Pursed lips, Large for gestational age, Micrognathia, Overgrowth, Hepatoblastoma, Broad philtrum	ORPHA:254519
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Hypercalcemia, Intrahepatic...	ORPHA:97282
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Unilateral renal agenesis, Micrognathia, Macroglossia, ...	ORPHA:261337
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Respiratory tract...	ORPHA:308552
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Small for gestational age, Hypospadias, Recurren...	ORPHA:93357
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight, Juvenile ...	OMIM:266270
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, High palate, Chylothorax	OMIM:620278
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Pallister-Hall Syndrome	Natal tooth, Hydroureter, Distal urethral duplication, Midline facial capillary hemangioma, Cleft...	OMIM:146510
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Calcinosis, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, ...	ORPHA:79443
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ...	ORPHA:71493
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Wiedemann-Rautenstrauch Syndrome	Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature loss of...	ORPHA:3455
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Pituitary adenom...	ORPHA:97283
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cleft lip, Obesity, Cleft palate, Hepatosplenomegaly, Everted lower lip vermilion, ...	OMIM:301066
Chops Syndrome	High, narrow palate, Splenomegaly, Obesity, Anomalous pulmonary venous return, Horseshoe kidney, ...	OMIM:616368
Acromesomelic Dysplasia 4	Mandibular prognathia, Pointed chin	OMIM:619636
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In...	ORPHA:86816
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Hypospadias, Pulmonary artery...	ORPHA:459070
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Pulm...	OMIM:617925
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ...	OMIM:203700
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Recurrent respiratory infections, Ureteral s...	OMIM:309350
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Conjunctivitis,...	OMIM:263700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokal...	OMIM:617913
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat...	OMIM:300373
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Crossed fused renal ectopia, Hypospadias, Microg...	OMIM:619841
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul...	OMIM:614866
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Pointed chin, ...	OMIM:620099
Cockayne Syndrome	Urinary incontinence, Hepatomegaly, Abnormal dental morphology, Renal hypoplasia, Agenesis of per...	ORPHA:191
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Narrow phi...	OMIM:601812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Hypospadias, Micrognathia, Phimosis...	OMIM:309500
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Peritonitis,...	ORPHA:342
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Conical tooth, Splenomegaly, Defective production...	OMIM:612132
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Thic...	OMIM:612651
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Skin rash	OMIM:601979
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Premature loss ...	ORPHA:2908
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Hypospadias, Micrognathia, Cleft lip, Cleft palate, Hydronephrosis...	ORPHA:2745
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Hypoplastic facial bones	OMIM:223800
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High, narrow palate, Long philtrum	ORPHA:1101
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Coffin-Lowry Syndrome	Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate...	OMIM:303600
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Short ...	ORPHA:261537
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Narrow mouth, High palate, Small, ...	ORPHA:2962
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Conical tooth, Keratitis, Leuko...	OMIM:308300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Pil...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Pil...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Eczema, Widely spa...	OMIM:617799
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, C...	OMIM:215700
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Widely...	ORPHA:2152
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl...	OMIM:123790
Adnp Syndrome	Thin upper lip vermilion, Urinary incontinence, Thick lower lip vermilion, Recurrent upper respir...	ORPHA:404448
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Eczema, Recurrent pneumonia, Hydronephrosis, Hig...	OMIM:620330
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Osteoarthritis	OMIM:619714
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Aplasia ...	OMIM:620186
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam...	ORPHA:83617
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Short ...	ORPHA:261552
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Horse...	OMIM:617088
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate...	ORPHA:289176
Doors Syndrome	Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widely spaced teeth, High ...	ORPHA:79500
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta...	ORPHA:666
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Recurrent respiratory infections, Hypertriglyceridemia, S...	OMIM:264090
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Gingivi...	ORPHA:64
Cystic Fibrosis	Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Biliary cirrhosis, Bron...	OMIM:219700
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Proteus Syndrome	Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Neoplasm of the central nervous syste...	ORPHA:744
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate, Cardiomegaly	ORPHA:158687
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Abdominal obesity, Increased body weight	OMIM:615954
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Cleft palate, Micropenis	OMIM:151100
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, Orofacial cleft	OMIM:193500
Pigmented Nodular Adrenocortical Disease, Primary, 4	Acne, Increased body weight	OMIM:615830
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Small for gestational age, Hypospadias, Micrognathia, Microvesicular hepatic steatosis...	OMIM:220111
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, Uraciluria, High palate, Open mouth, Retrognathia	ORPHA:1675
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcem...	ORPHA:93325
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Leukopenia, Tubuloin...	ORPHA:797
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Hydrourete...	OMIM:135900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Large for gestational age, Renal cyst, Macroglossia, Thick vermilion borde...	OMIM:617107
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Increased body weight, Downturned cor...	ORPHA:398069
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th...	ORPHA:70591
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Pulmonary hypoplasia, Long philtrum, Malar flattening	ORPHA:50945
Cornelia De Lange Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ...	ORPHA:199
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du...	ORPHA:2036
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Elevated hepatic transaminase, Failure to thrive...	ORPHA:79318
Faciocardiomelic Syndrome	Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Long philtrum, Hyperpla...	OMIM:612731
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc...	OMIM:300166
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hydronephrosis	OMIM:615989
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ...	ORPHA:2250
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Dental malocclusion, Cleft pala...	OMIM:305600
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Osteochondroma, Hypospadias, Accessory oral frenulum, Midline fac...	ORPHA:672
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Wrinkly Skin Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Carious teeth, High palate, High n...	ORPHA:2834
Cushing Disease	Increased urinary cortisol level, Acne, Pituitary corticotropic cell adenoma, Intra-oral hyperpig...	ORPHA:96253
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Floating-Harbor Syndrome	Small for gestational age, Hypospadias, Persistence of primary teeth, Hypoplasia of the maxilla, ...	ORPHA:2044
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Recurrent respiratory infections, Cardiomegaly, Hypoplasia of the maxil...	OMIM:182250
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Dimple chin,...	ORPHA:1519
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Downturned corners of mouth, Hepatic fibrosis, Hypocalcemia, Hypop...	OMIM:243800
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Horses...	ORPHA:138
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Renal cyst, Cleft palate	OMIM:272460
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon...	OMIM:278250
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Micrognathia, Submucous cleft hard palate, Tempor...	OMIM:275210
Restrictive Dermopathy	Natal tooth, Ureteral duplication, Hypospadias, Micrognathia, Submucous cleft hard palate, Tempor...	ORPHA:1662
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Pulmonary artery sling, Pulmonary artery stenosis, Submuc...	OMIM:235730
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma	ORPHA:805
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Pulmonary hypoplasia, Micr...	OMIM:606170
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Mic...	OMIM:601803
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Hypercholesterole...	ORPHA:391665
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Smg1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Smg1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Smg1^{tm1b(EUCOMM)Hmgu}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Smg1^{tm1b(EUCOMM)Hmgu} Smg1^{tm1b(EUCOMM)Hmgu}	PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Smg1^{tm1b(EUCOMM)Hmgu}	PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Smg1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smg1^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smg1^{tm299418(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Smg1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smg1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Smg1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Smg1^{tm299417(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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