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Gene: Smg1 MGI:1919742

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Gene Summary

Name:
SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)
Synonyms:
C130002K18Rik,  5430435M13Rik,  2610207I05Rik

Order Alleles

IMPC Data Collections

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 Smg1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating bilirubin level Smg1tm1b(EUCOMM)Hmgu HET Early adult 2.48×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images
Smg1tm1b(EUCOMM)Hmgu
abnormal eye morphology, eye opacity, corneal opacity, eye, HET, Male, WTSI
Smg1tm1b(EUCOMM)Hmgu
snout, head, abnormal snout morphology, short snout, HET, Male, WTSI
Smg1tm1b(EUCOMM)Hmgu
corneal opacity, eye, abnormal eye morphology, eye opacity, WT, Female, WTSI
Smg1tm1b(EUCOMM)Hmgu
head, abnormal snout morphology, asymmetric snout, WT, Female, WTSI
Smg1tm1b(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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
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
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Sotos syndrome
Mandibular prognathia, Tall stature DECIPHER:17
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating a... OMIM:301045
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Failure to thrive, Sple... OMIM:269840
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Oral ulcer, Pneumonia, He... OMIM:608971
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Alpha-Mannosidosis
Open bite, Macroglossia, Narrow palate, Craniofacial hyperostosis, Mandibular prognathia, Chronic... ORPHA:61
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Hypophosphatemic ri... OMIM:618913
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, High palate, Micrognathia, Prominent nose OMIM:614882
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Arthritis, Agammaglobulinemia, Recurrent re... OMIM:300310
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Renal insufficiency, Mandibular prognathia, Disproportionate tall stature, Glomerulonephritis, Hi... OMIM:248760
Permanent Molars, Secondary Retention Of
Mandibular prognathia, Abnormality of the dentition OMIM:157950
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age, Recurrent respiratory infections ORPHA:2432
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Autosomal Dominant Prognathism
Open bite, Mandibular prognathia, Everted lower lip vermilion ORPHA:2964
Bazex Syndrome
Lip hyperpigmentation, Liposarcoma, Neoplasm, Anemia, Lung adenocarcinoma ORPHA:166113
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Mandibular prognathia, Disproportionate tall stature, Glomerulonephritis, Chronic kidney disease,... ORPHA:2172
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Thrombocytopenia, Hepatom... ORPHA:2785
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Mental Retardation Syndrome, Belgian Type
Mandibular prognathia, Eunuchoid habitus, Wide nose OMIM:249599
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Sotos Syndrome 3
Mandibular prognathia, Prominent nose OMIM:617169
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Dental crowding, Mandibular prognathia, Atopic dermatitis, Obesity OMIM:606772
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Malar prominence, Micrognathia, Hypertriglyceridemia ORPHA:436182
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Anteverted nares, Pointed chin OMIM:618292
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Wide mouth, Wide nasal bridge, Thin upper lip vermilion, Fa... OMIM:249630
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Short nose, Open mouth, Downturned corners of mouth, Recurrent upper respiratory trac... ORPHA:391372
Rafiq Syndrome
Short philtrum, Pointed chin, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion, Promi... OMIM:614202
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Aredyld
Mandibular prognathia OMIM:207780
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Bulbous nose, Abnormality of the mouth OMIM:102150
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate, Large for gestational age OMIM:248110
Perlman Syndrome
Abnormality of upper lip, Short nose, Open mouth, High, narrow palate, Smooth philtrum, Tall stat... ORPHA:2849
Mcdonough Syndrome
Open bite, Short philtrum, Underdeveloped nasal alae, Mandibular prognathia, Abnormal palate morp... ORPHA:2471
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Abnormality of the mouth, Everted lower lip verm... ORPHA:181393
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, ... ORPHA:397973
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils ORPHA:293964
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased specif... OMIM:300853
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Imagawa-Matsumoto Syndrome
Overgrowth, Mandibular prognathia, Birth length greater than 97th percentile, Tall stature OMIM:618786
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Phenobarbital Embryopathy
Unilateral cleft lip, Hypospadias, Mandibular prognathia, Malar flattening ORPHA:1919
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Smooth philtrum OMIM:301013
Maxillofacial Dysostosis
Mandibular prognathia OMIM:155000
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal circulating lipid... OMIM:615980
Mental Retardation, Autosomal Recessive 41
Mandibular prognathia, Retrognathia, Broad nasal tip OMIM:615637
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphoma, Hepatomegaly, B-cell lymphoma, Breast carcinoma, Splenomegaly, Lymphadenop... ORPHA:86893
Laron Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Tooth agenesis, Truncal obesity, Hypoplastic nas... ORPHA:633
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, High palate, Mandibular prognathia ORPHA:168624
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hepatic steatosis, Mandibular prognathia, Hepatome... ORPHA:528
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Neoplasm, Failure to thrive, Splenomegaly ORPHA:172
Mental Retardation, X-Linked, Syndromic 12
Wide mouth, Mandibular prognathia, Thick lower lip vermilion, Thick upper lip vermilion OMIM:309545
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia OMIM:615947
Trismus-Pseudocamptodactyly Syndrome
Mandibular prognathia ORPHA:3377
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Mandibular prognathia, Wide na... ORPHA:2180
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Sotos Syndrome 1
Narrow palate, Pointed chin, Mandibular prognathia, Tall stature, Otitis media, Neoplasm, Nephrob... OMIM:117550
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Mmep Syndrome
Oral cleft, Mandibular prognathia, Median cleft lip ORPHA:3434
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Weight loss, Hypokalemia, Inc... ORPHA:1501
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Mandibu... OMIM:259710
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... ORPHA:66661
Xq25 Microduplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border ORPHA:521258
Xq25 Duplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border OMIM:300979
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition, Increased circulating I... ORPHA:1858
Smith-Magenis Syndrome
Hypercholesterolemia, Mandibular prognathia, Abnormality of the larynx, Abnormality of the dentit... OMIM:182290
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Abnormality of dental morphology, Hypoplasia of penis, Micropenis, Obesity ORPHA:85274
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Hydronephrosis, Failu... OMIM:617093
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Leukodystrophy, Hypomyelinating, 17
Mandibular prognathia, Anteverted nares, Widely spaced teeth, Gingival overgrowth OMIM:618006
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Cholestasis, Jaundice... OMIM:617156
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Oral ulcer, Decreased circul... OMIM:615122
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, Drooling, Bulbous nose, Mandibular prognathia, Wide mouth, High palate OMIM:612936
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Wide nasal bridge, High... OMIM:600991
Rft1-Cdg
Hepatomegaly, Failure to thrive ORPHA:244310
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis, Wide nasal bridge,... OMIM:122860
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Sclerosteosis 2
Mandibular prognathia OMIM:614305
Mental Retardation, Autosomal Recessive 48
Long philtrum, Mandibular prognathia OMIM:616269
Mental Retardation, Autosomal Recessive 61
Bulbous nose, Mandibular prognathia, Conical tooth, High palate, Prominent nose OMIM:617773
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive in infancy... OMIM:232700
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Hepatic steatosis, Failure to thrive, Elevated c... ORPHA:26792
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hodgkin Lymphoma
Weight loss, Lymphoma, Hepatomegaly, Neoplasm, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Maxillonasal Dysplasia
Open bite, Short nose, Mandibular prognathia, Tooth agenesis, Depressed nasal bridge, Cleft palat... ORPHA:1248
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Renal insufficiency, Micropenis OMIM:613861
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Obesity ORPHA:99976
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Mandibular prognathia, Smooth ph... OMIM:300998
Carcinoma Of Esophagus
Esophageal neoplasm, Weight loss, Barrett esophagus, Lymphadenopathy, Obesity ORPHA:70482
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Drooling, Mandibular prognathia, Wide mouth, Obesity ORPHA:411515
Familial Adenomatous Polyposis 1
Carious teeth, Adrenocortical adenoma, Adenomatous colonic polyposis, Adrenocortical carcinoma, F... OMIM:175100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Decreased circulating antibody level, Mandibular prognathia, Cleft palate ORPHA:85317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating creatine kin... OMIM:615895
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Mandibular prognathia, Tall chin, Wide nasal bridge ORPHA:137831
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus ORPHA:2790
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Renal hypoplasia,... OMIM:608572
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Mandibular prognathia, Thick upper lip vermilion, Abnormality of the dentition, T... OMIM:226440
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Failure t... OMIM:614727
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent upper respiratory tract... OMIM:613101
Macrocephaly/Autism Syndrome
Long philtrum, Short nose, Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Depre... OMIM:605309
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Short chin, Hypoplasia of the primary teeth... ORPHA:90322
Familial Adenomatous Polyposis
Abnormal cementum morphology, Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, N... ORPHA:733
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Decreased body weight, Hypoplasia of the maxilla ORPHA:93950
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Smith-Magenis Syndrome
Hypercholesterolemia, Delayed eruption of primary teeth, Short philtrum, Short nose, Taurodontia,... ORPHA:819
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Acne, Mandibular prognathia, Wide mouth, Thick vermili... ORPHA:137834
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Mandibular prognathia, Obesity, Hypospadias, Malar flattening, Depr... OMIM:614613
Mental Retardation With Language Impairment And With Or Without Autistic Features
Drooling, Open mouth, Short nose, Enuresis, Failure to thrive in infancy, Broad nasal tip, Retrog... OMIM:613670
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia, Obesity OMIM:300577
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Temple Syndrome
Hypercholesterolemia, Short philtrum, Overweight, Recurrent otitis media, Hypertriglyceridemia, T... OMIM:616222
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Bulbous nose, Mandibular prognathia, Wide mouth, Abdominal obesity, Hypospadias, Th... OMIM:300354
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Pettigrew Syndrome
Mandibular prognathia, Wide mouth, Thick vermilion border, Prominent nose OMIM:304340
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Pancytopenia, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Increased body weight, Anemia, Increased body mass index OMIM:614450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Hyperostosis Corticalis Generalisata
Mandibular prognathia ORPHA:3416
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Visceromegaly, Bilateral cleft lip and palate, Cleft upper lip, Large ... OMIM:601165
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Macrocephaly-Developmental Delay Syndrome
Microretrognathia, Mandibular prognathia, Wide nasal bridge, Recurrent pneumonia, High palate, He... ORPHA:397612
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Alpha-Heavy Chain Disease
Hypocalcemia, Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lympha... ORPHA:100025
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Kleefstra Syndrome 1
Macroglossia, Anteverted nares, Micropenis, Mandibular prognathia, Natal tooth, Everted lower lip... OMIM:610253
Schaaf-Yang Syndrome
Abnormality of the philtrum, Open mouth, Mandibular prognathia, Failure to thrive in infancy, Ret... OMIM:615547
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:300676
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Renpenning Syndrome
Short philtrum, Narrow mouth, Mandibular prognathia, Cachexia, Cleft palate, Hypospadias, High, n... ORPHA:3242
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Hypocholesterolemia, Small f... OMIM:610883
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:613011
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Raynaud-Claes Syndrome
Mandibular prognathia OMIM:300114
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Diffuse reticular or finely nodular infiltrations, Sea-blue histiocytosis... OMIM:607616
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Diffuse hepatic steatosis, Wide nasal bridge, Hepatomegaly, Depres... OMIM:264470
Steatocystoma Multiplex With Natal Teeth
Steatocystoma multiplex, Natal tooth OMIM:184510
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Short nose, Mandibular prognathia, Abnormal... ORPHA:1327
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Glycogen Storage Disease Iii
Thin vermilion border, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Thin upper ... OMIM:232400
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Mandibular prognathia, Left ventricular hyper... OMIM:619040
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Sotos Syndrome 2
Narrow mouth, Mandibular prognathia, Everted lower lip vermilion, Overgrowth, Advanced eruption o... OMIM:614753
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Beckwith-Wiedemann Syndrome
Facial hemangioma, Mandibular prognathia, Neoplasm, Hypercalciuria, Vesicoureteral reflux, Large ... ORPHA:116
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Pfapa Syndrome
Recurrent pharyngitis, Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Abnormal oral cavit... ORPHA:42642
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Mandibular prognathia, T... ORPHA:99725
Barth Syndrome
Mandibular prognathia, Neutropenia, Granulocytopenia, Failure to thrive, Organic aciduria, 3-Meth... OMIM:302060
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Recurrent otitis media, Oral cle... ORPHA:199306
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenom... ORPHA:37748
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Nephropathy, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Mandibular prognathia, Cleft palate, Malar flattening ORPHA:94066
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Mandibular prognathia, Decreased body weight, Hypoplasia of the max... ORPHA:93945
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Micrognathia, Failure to thrive OMIM:612015
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hepatic fibro... ORPHA:369
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Short nose, Mandibular prognath... ORPHA:439822
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Short chin, Increased blood urea nitrogen, ... ORPHA:90321
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening, Depressed n... OMIM:613849
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Renovascular hypertension, Mandibular prognathia, Broad chin, B... ORPHA:401923
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas ORPHA:2398
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Kleefstra Syndrome
Downturned corners of mouth, Mandibular prognathia, Vesicoureteral reflux, Pulmonary artery steno... ORPHA:261494
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Mandibular prognathia, Deep philtrum, Obesity, Widely-... ORPHA:404443
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Felty Syndrome
Pleuritis, Pericarditis, Neutropenia, Weight loss, Anemia, Sinusitis, Lymphadenopathy, Pulmonary ... ORPHA:47612
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Persistence of primary teeth, ... OMIM:147060
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Eczema, Cutaneou... ORPHA:2584
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine... OMIM:212140
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Tooth malposition, Increased overbite, Cleft lip, Cleft... OMIM:618761
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Dental ma... ORPHA:2959
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly ORPHA:796
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Mehmo Syndrome
Long philtrum, Drooling, Open mouth, Broad nasal tip, Small for gestational age, Cleft lip, Cleft... OMIM:300148
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Renal insufficiency, Elevated hepatic transaminase, Chronic activ... OMIM:203800
11P15.4 Microduplication Syndrome
Long philtrum, Smooth philtrum, Increased overbite, Anteverted nares, Obesity ORPHA:300305
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Mandibular prognathia, Pointed chin OMIM:248000
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Abnormal abdomen morphology, Numerous nevi, Anodontia, ... OMIM:264475
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Weight l... ORPHA:83469
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Dental crowding, Hepatic steatosis, Disproportionate tall stature, Hypermethioninemia, Tall statu... OMIM:236200
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Mandibular prognathia, Decreased circulating IgG level, Decrease... OMIM:300861
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Thin vermilion border, Micrognathia, Splenomegaly OMIM:608540
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Pierre-Robin sequence, Hepatic steatosis, Intrahepatic cholestasis... OMIM:614921
Luscan-Lumish Syndrome
Pointed chin, Mandibular prognathia, Recurrent otitis media, Overgrowth, Long nose, Malar flatten... OMIM:616831
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Narrow mouth, Elevated hepatic transaminase, Dental crowding, Hepatic steatosis, Hepatomegaly, Hy... OMIM:615381
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Advanced erupt... ORPHA:2348
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent otitis media, Renal cyst, Renal insufficiency, Recurrent respiratory inf... OMIM:615993
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Hepatomegaly, Wide n... OMIM:253250
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Carious teeth, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jau... OMIM:612714
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Depressed nasal bridge, Obesity OMIM:612463
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia, Increased circulating IgA level, Decreased ... OMIM:300636
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Mandibular prognathia, Truncal obesity, Broad nasal... ORPHA:284180
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hyperammonemia, Hepatomegaly, Failure to thrive, Hypospadias, Retrognathia, Prominent nasal bridg... OMIM:604273
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Short philtrum, Narrow palate, Open mouth, Micropenis, Mandibular prognathia, Thic... ORPHA:364028
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, ... ORPHA:1046
Simpson-Golabi-Behmel Syndrome, Type 2
Facial capillary hemangioma, Short nose, Recurrent upper respiratory tract infections, Micropenis... OMIM:300209
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, Failure to thrive, Cleft palate OMIM:614924
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Horseshoe kidney, Elevated hepatic transaminase, Acute kidney injury, Hepatic steatosis, Mandibul... ORPHA:93111
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Mandibular prognathia, Tall stature OMIM:102100
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia ORPHA:63442
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Midshaft hypospadias, Abnormality of the philtrum, Tooth agenesis, Wid... ORPHA:2863
Classic Hodgkin Lymphoma
Skin rash, Weight loss, Lymphoma, Hepatomegaly, Neoplasm, Splenomegaly, Hemoptysis, Bone marrow h... ORPHA:391
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Microphthalmia, Syndromic 8
Mandibular prognathia, Oral cleft, Cleft upper lip, Cleft palate, Widely-spaced maxillary central... OMIM:601349
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long philtrum, Pointed chin, Bulbous nose, Chronic otitis media, Thin upper lip vermilion, Depres... ORPHA:480907
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Long penis, Mandibular prognathia, Wide nasal b... OMIM:135500
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Ascites,... OMIM:269920
Gorlin Syndrome
Neoplasm, Carious teeth, Mandibular prognathia, Wide nasal bridge ORPHA:377
Galloway-Mowat Syndrome 5
Mandibular prognathia, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, ... OMIM:617731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Carious teeth, Thyroiditis, Hyperuricemia, Anemia, Gingivitis, Hyperlipidem... ORPHA:79259
Hernández-Aguirre Negrete Syndrome
Deep philtrum, Wide mouth, Bulbous nose, Obesity ORPHA:2139
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomeg... OMIM:255120
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Dermatomyositis
Gastrointestinal stroma tumor, Pericarditis, Pulmonary fibrosis, Myocarditis, Weight loss, Lympho... ORPHA:221
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Fa... OMIM:615438
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Bilia... ORPHA:567983
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Tongue atrophy, Short mandibular rami OMIM:141300
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Micrognathia, Submucous cleft har... ORPHA:2521
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Furrowed tongue, Dental malocclusion, Micrognathia, Promin... OMIM:248950
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short philtrum, Downturned corners of mouth, Mandibular progn... ORPHA:217017
Mucopolysaccharidosis, Type Iva
Carious teeth, Recurrent upper respiratory tract infections, Chondroitin sulfate excretion in uri... OMIM:253000
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia, Short nose, I... OMIM:170100
Gaucher Disease, Type Ii
Trismus, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Failure to thrive, Recurrent aspir... OMIM:230900
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ie
Hemangioma, Elevated hepatic transaminase, Smooth philtrum, Hepatomegaly, Failure to thrive, Sple... OMIM:608799
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Coffin-Siris Syndrome 10
Anteverted nares, Wide mouth, Persistence of primary teeth, Laryngomalacia OMIM:618506
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Abnormal pulmonary interstit... OMIM:619013
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Acquired Partial Lipodystrophy
Lymphocytosis, Microscopic hematuria, Hepatic steatosis, Proteinuria ORPHA:79087
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Oligodontia, Cholestasis, Hepatomegaly, Jaundice, Hypodontia, ... ORPHA:59303
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Achalasia-Microcephaly Syndrome
Mandibular prognathia, Micrognathia, Prominent nose ORPHA:929
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Dental crowding, Branchial cyst, Mandibular prognathia, Laryngomalacia, Thin upper lip vermilion,... ORPHA:435938
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Mandibular prognathia, Small for gestational age, High palate, Advanced eruption of t... OMIM:262190
49,Xxxyy Syndrome
Recurrent upper respiratory tract infections, Micropenis, Mandibular prognathia, Wide nasal bridg... ORPHA:261534
Mucopolysaccharidosis, Type Ivb
Carious teeth, Recurrent upper respiratory tract infections, Mandibular prognathia, Wide mouth, G... OMIM:253010
Intellectual Developmental Disorder, X-Linked 21
Short nose, Open mouth, Dental crowding, Mandibular prognathia, Tented upper lip vermilion OMIM:300143
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Anteverted nares OMIM:300884
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601820
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Mandibular prognathia, Tall stature,... OMIM:608594
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Recurrent respiratory ... OMIM:613496
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Pharyngalgia, Elevated circulating C-reactive protein concentration, Spl... OMIM:611762
X-Linked Non-Syndromic Intellectual Disability
Delayed eruption of teeth, Long philtrum, Drooling, Thin upper lip vermilion, Urinary incontinenc... ORPHA:777
Peroxisome Biogenesis Disorder 13A (Zellweger)
Cholestasis, Hepatomegaly, Jaundice, Micrognathia, Abnormal nasal bridge morphology OMIM:614887
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia, Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Central Precocious Puberty
Hypothalamic hamartoma, Overgrowth, Increased body weight, Acne, Obesity ORPHA:759
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Mandibular prognathia, Smooth philtrum, Protruding tongue OMIM:618732
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth, Prominent nasal bridge,... ORPHA:627
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Abnormality of the zygomatic bone, Unilateral cleft lip, Malar flattening,... ORPHA:2511
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Fragile X Syndrome
Mandibular prognathia, Chronic otitis media, Otitis media, Sinusitis ORPHA:908
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Dental crowding, Microretrognathia, Mandibular prognat... ORPHA:314585
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, Recurrent bronchiolitis, Co... OMIM:619164
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... ORPHA:3226
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, High... OMIM:300534
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Breast carcinoma OMIM:614564
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Hep... ORPHA:169090
Noonan Syndrome 5
Mandibular prognathia, Wide mouth, Thick vermilion border, Laryngomalacia, Large for gestational ... OMIM:611553
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Chronic hepatitis, Gingivitis, Ci... OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Macroglossia, Increased serum pyruvate, Hepatomegaly, Failure to thri... OMIM:500009
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Thick lower lip vermilion, Tented upper lip vermilion OMIM:615828
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
3Q27.3 Microdeletion Syndrome
Short philtrum, Slender nose, Narrow mouth, Dental crowding, Mandibular prognathia, Disproportion... ORPHA:397695
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Weight loss, Lymphoma, Splenomegaly, Mediastinal... ORPHA:545
Proteus-Like Syndrome
Open bite, Hemangioma, Subcutaneous lipoma, Mandibular prognathia, Bronchogenic cyst, Splenomegal... ORPHA:2969
Subaortic Stenosis-Short Stature Syndrome
Abnormal vocal cord morphology, Abnormal circulating lipid concentration, Biliary tract abnormali... ORPHA:3191
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Everted lower lip vermilion, Anodontia, Wide nose, Obesity ORPHA:276630
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Proteus Syndrome
Hemangioma, Open mouth, Multiple lipomas, Mandibular hyperostosis, Splenomegaly, Lymphangioma, Fa... OMIM:176920
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Sp... OMIM:604173
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, P... OMIM:105200
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Basal cell carcinoma, Hypoplasia of teeth, Agenesis of permanent teeth... OMIM:268400
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Dermoodontodysplasia
Mandibular prognathia, Microdontia, Tooth agenesis ORPHA:1660
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... OMIM:617388
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Mandibular prognathia, Tall stature,... OMIM:269700
Christianson Syndrome
Mandibular prognathia, Cachexia ORPHA:85278
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Mandibular prognathia, Tall stature, Cleft palate, Bifid uvula, ... OMIM:309583
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Eosinophilia, Obesity OMIM:248100
Three M Syndrome 1
Long philtrum, Pointed chin, Anteverted nares, Mandibular prognathia, Small for gestational age, ... OMIM:273750
Shwachman-Diamond Syndrome
Skin rash, Carious teeth, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Le... ORPHA:811
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Mandibular prognathia, Wide nasal bridge, Broad alveolar ridges,... OMIM:218400
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Short nose OMIM:617183
Simpson-Golabi-Behmel Syndrome
Hydroureter, Mandibular prognathia, Neoplasm, Ureteral duplication, High, narrow palate, Macroglo... ORPHA:373
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Arthrogryposis, Distal, Type 2A
Pursed lips, Long philtrum, Narrow mouth, Underdeveloped nasal alae, Dental crowding, Short nose,... OMIM:193700
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Elevated hepatic transaminase, Hepatic steato... OMIM:615486
Rothmund-Thomson Syndrome
Skin rash, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Neutropenia, Sm... ORPHA:2909
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias, Mandibular prognathia ORPHA:2252
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Mandibular prognathia, Small for gestational age, Anemia, Neutrophilia, Depressed ... ORPHA:99843
Raine Syndrome
Enamel hypoplasia, Hypophosphatemia, Narrow mouth, Short nose, Hydroureter, Mandibular prognathia... OMIM:259775
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Hepatomegaly, Cleft pa... ORPHA:3473
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Osteomyelitis, Increased circulating IgE level, Chronic oti... ORPHA:2314
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Vacuolated lymphocytes, Decreased circulating antibody level, Mandibular prognathia... OMIM:248500
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Downturned corners of mouth, Mandibular prognathia, Malar flattening, Anteverted ... OMIM:618672
Arthrogryposis, Distal, Type 2B1
Long philtrum, Narrow mouth, Mandibular prognathia, Wide nasal bridge, High palate, Micrognathia OMIM:601680
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Mandibular prognathia, Bulbous nose ORPHA:2324
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Hennekam Syndrome
Hypocalcemia, Narrow mouth, Benign neoplasm of the central nervous system, Erysipelas, Lymphangio... ORPHA:2136
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Hepatic steatosis, Uveitis, Thrombocytopenia, Jaundice,... ORPHA:99827
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasi... ORPHA:96264
Angelman Syndrome Due To A Point Mutation
Drooling, Mandibular prognathia, Wide mouth, Protruding tongue, Widely spaced teeth, Obesity ORPHA:411511
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Wide nose, Ma... OMIM:617303
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Hepatomegaly, Neoplasm, Furrowed tongue, Stomach cancer, Intestinal p... ORPHA:2930
Autism, Susceptibility To, 18
Overweight, Pointed chin, Tall stature, Wide nose OMIM:615032
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Short nose, Widely spaced teeth, Everted lower lip vermilion, Wide mouth, Smooth p... OMIM:615873
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Long philtrum, Narrow mouth, Abnormality of canine, Mandibular prognathia... ORPHA:261584
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Cardiomegaly, Obesity ORPHA:88643
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Angelman Syndrome
Macroglossia, Drooling, Hypoplasia of the maxilla, Mandibular prognathia, Wide mouth, Protruding ... OMIM:105830
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Long philtrum, Respiratory tract infection, Short chin, Renal hypoplasia, Mandibular prognathia, ... OMIM:618975
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemic tetany, Low urinary cyclic AMP respons... OMIM:612462
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mandibular prognathia, Everted lower lip vermilion, Thick vermilion border, Hypospadias, Dental m... OMIM:603463
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
19P13.12 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Hepatic steatosis, Hypodontia, Narrow nasal bridge, Cleft p... ORPHA:254346
Sézary Syndrome
Neoplasm of the skin, Abnormal pleura morphology, Abnormal lymphocyte morphology, Erythroderma, L... ORPHA:3162
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Wide mouth, Nephropathy, Cholestasis, Hepatic fibrosis, Hepatomeg... OMIM:266920
Clark-Baraitser syndrome
Tall stature, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median tongue f... OMIM:300602
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Taurodontia, Thick lower lip vermilion, Smooth philtrum... ORPHA:2563
Gm1 Gangliosidosis
Long philtrum, Macroglossia, Narrow mouth, Broad nasal tip, Mandibular prognathia, Weight loss, A... ORPHA:354
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Short philtrum, Narrow mouth, Recurrent otitis media, Truncal obesity, Depr... ORPHA:96184
Classic Multiminicore Myopathy
Microretrognathia, Mandibular prognathia, Right ventricular hypertrophy, Failure to thrive, High ... ORPHA:324604
Pycnodysostosis
Delayed eruption of teeth, Narrow palate, Abnormality of dental morphology, Abnormality of the de... ORPHA:763
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatos... ORPHA:228305
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Short philtrum, Recurrent otitis media, High palate, Micrognathia, Wide nos... ORPHA:254531
Familial Multiple Lipomatosis
Medulloblastoma, Odontogenic keratocysts of the jaw, Overgrowth, Hyperlipidemia, Premature erupti... ORPHA:199276
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Abnormality of the mouth, Truncal obesity, Neonatal hyperbilirubinemia... ORPHA:73272
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Mandibular prognathia, Deep philtrum, Thin upper lip vermilion, Broad nasal tip, T... OMIM:152950
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal... OMIM:269300
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Increased serum pyruvate, Hepatomegaly, Thin upper lip vermilion, Organic aciduria OMIM:614741
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bulbous nose, Mandibular prognathia, Deep philtrum, Smooth... OMIM:618622
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Persistence of primary teeth, Anemia, Hemoptysis, Renal insufficiency, Pu...