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Gene: Bmp6 MGI:88182

Gene Summary

Name:

bone morphogenetic protein 6

Synonyms:

D13Wsu115e, Vgr1

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	Allele	Zyg	Life Stage	P Value
decreased body weight	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	4.76×10^-06
increased mean corpuscular hemoglobin concentration	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	5.99×10^-05
kyphosis	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	3.11×10^-06
abnormal pancreas morphology	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal brain morphology	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	1.47×10^-12
increased mean corpuscular volume	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	9.79×10^-07
decreased locomotor activity	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	6.08×10^-05
abnormal skin morphology	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	7.47×10^-06
decreased heart rate	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	1.26×10^-05
increased hemoglobin content	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	2.69×10^-07
decreased startle reflex	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	1.56×10^-05
increased circulating iron level	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased brain size	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal salivary gland morphology	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spine curvature	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	6.29×10^-06
increased circulating alanine transaminase level	Bmp6^{em1(IMPC)Ccpcz}	HOM	Early adult	1.73×10^-21

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Human diseases caused by Bmp6 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 Bmp6 (2 diseases)
Human diseases predicted to be associated with Bmp6 (729 diseases)

The table below shows human diseases associated to Bmp6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Symptomatic Form Of Hfe-Related Hemochromatosis		Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Splenomegaly, Congestive heart failure, In...	ORPHA:465508
Iron Overload, Susceptibility To		Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121

The table below shows human diseases predicted to be associated to Bmp6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Rib	Cervical ribs	OMIM:117900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb...	ORPHA:3319
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit...	ORPHA:2169
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hypertensi...	OMIM:617021
Diamond-Blackfan Anemia 6	Macrocytic anemia, Cleft upper lip, Cleft palate, Persistence of hemoglobin F, Mitral regurgitati...	OMIM:612561
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Neutropenia	OMIM:612563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr...	ORPHA:85443
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Kyphosis, Gait disturbance, High palate, Scoliosis	OMIM:611225
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T...	OMIM:617052
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi...	OMIM:616201
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Cryptorchidism, Kyphosis, Dilated cardiomyopathy, Wide mouth, Mitral regurgitati...	ORPHA:261250
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Gait ataxia, Hepatic fibrosis, Elevate...	ORPHA:48818
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Congestive heart failure, Bradycardia, Decreased plasma free carni...	OMIM:619048
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Congestive heart failure, Failure to thrive	ORPHA:796
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, High-output con...	ORPHA:231226
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Tip...	OMIM:617404
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Fai...	OMIM:618235
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Hyperl...	OMIM:300718
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Kimura Disease	Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tac...	OMIM:212138
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Congestive heart failure, Increased circulating ferritin concentratio...	OMIM:613313
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Thick lower lip vermilion, Atrioventricular block, Bradycardia, Truncal ataxia, Intenti...	OMIM:614407
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Carious teeth, Hepatic necrosis, Anemia, Leukopenia, Increased mean corp...	OMIM:127550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Obesi...	OMIM:616756
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev...	OMIM:613327
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Scoliosis	OMIM:616276
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Diamond-Blackfan Anemia 1	Macrocytic anemia, Failure to thrive, Tricuspid stenosis, Congenital hypoplastic anemia, Short ne...	OMIM:105650
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre...	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic c...	OMIM:614702
Diamond-Blackfan Anemia 7	Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Scoliosis, Neutropenia, Esoph...	OMIM:612562
Idiopathic Congenital Hypothyroidism	Macroglossia, Bradycardia, Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Necrotizing Enterocolitis	Shock, Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotensi...	ORPHA:391673
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormality of the tongue, Reduced left ventricular ejection fraction, He...	ORPHA:314652
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Shor...	ORPHA:124
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Cln3 Disease	Ataxia, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Bradycardia, Shuffling gait, Loss...	ORPHA:228346
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, High palate, Scoliosis, Long philtrum, Anemia	ORPHA:2598
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Tricuspid regurgitation, Dental crowding, Spinal rigidity, Kyp...	OMIM:620351
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:616471
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:615290
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati...	OMIM:602390
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Kyphosis, Tongue fasciculations, Narrow mouth, Failure to thrive	OMIM:620007
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Familial Thyroid Dyshormonogenesis	Macroglossia, Bradycardia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobu...	ORPHA:95716
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card...	OMIM:606069
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted lower lip vermilion, Sho...	ORPHA:2429
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Dystonia	OMIM:616277
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular tachycardia, Atrioventricular block,...	OMIM:601005
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Arrhythmia	OMIM:618453
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Hjv Or Hamp-Related Hemochromatosis	Congenital hepatic fibrosis, Elevated transferrin saturation, Dilated cardiomyopathy, Increased c...	ORPHA:79230
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ...	ORPHA:2298
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Dystonia	OMIM:614654
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Waddling gait, Hypertriglyceridemia, Elevated circulating c...	ORPHA:98855
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi...	ORPHA:3299
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Cdkl5-Deficiency Disorder	Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis, Gait dis...	ORPHA:505652
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Lip discoloration, Limb dystonia, Methemoglobinemia	ORPHA:621
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis	OMIM:617087
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Kyphosis, Macrovesicular ...	OMIM:618234
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Waddling gait, Hypertriglyceridemia, Elevated circulating c...	ORPHA:98863
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Waddling gait, Hypertriglyceridemia, Elevated circulating c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Waddling gait, Hypertriglyceridemia, Elevated circulating c...	ORPHA:98853
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Acerulop...	OMIM:604290
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology, Abnormal upper l...	ORPHA:2849
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ...	ORPHA:449432
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Leg dystonia, Tip-toe gait, Bradycardia, Scoliosis, Loss of ambulation, Open mouth	ORPHA:565624
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Short neck, Cryptorchidism, Kyphosis, Inability to walk, High palate, Scoliosis, Diffic...	OMIM:611890
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Dystonia, Tremor, Bradykinesia, Steppage gait, Increased total i...	OMIM:613280
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Glutamine Deficiency, Congenital	Hypoglutaminemia, Thin vermilion border, Bradycardia, Hyperammonemia	OMIM:610015
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca...	ORPHA:330001
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Illum Syndrome	Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia	OMIM:208155
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormal circulating creatin...	OMIM:618484
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
Hall-Riggs Syndrome	Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,...	OMIM:234250
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276575
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Kyphosis, High, narrow palate, Unsteady gait, Obesity, Scoliosis, Loss of ambulation	OMIM:618124
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Macroglossia, Lethargy,...	ORPHA:90674
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Letha...	ORPHA:99826
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276556
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico...	ORPHA:91355
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Kyphosis, Cleft palate, Short philtrum, Gait disturbance, Scoliosis	ORPHA:85317
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Abnormality of the ovary, Decreased testicular size, Gait disturbance	ORPHA:1875
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentrati...	ORPHA:309854
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Bradycardia, Lethargy, Thrombocytopenia	OMIM:617397
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy, Failure to thrive, Dystonia	OMIM:618237
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Dystonia, Anisocytosis, Micro...	OMIM:618278
Stiff-Person Syndrome	Tachycardia, Lumbar hyperlordosis, Exaggerated startle response, Opisthotonus, Hypertension, Anemia	OMIM:184850
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Card...	OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Winchester Syndrome	Kyphosis, Gingival overgrowth	OMIM:277950
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scoliosis, Microdontia, Arrhythmia, Abn...	ORPHA:3191
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Thin upper lip vermilion	OMIM:609384
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Dystonia, Tremor, Sple...	OMIM:615512
Myofibrillar Myopathy 10	Kyphosis, Prolonged QTc interval, Increased QRS voltage, Elevated circulating creatine kinase con...	OMIM:619040
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent...	ORPHA:3282
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia...	OMIM:617101
Baralle-Macken Syndrome	Inability to walk, Kyphosis, High, narrow palate, Obesity, Dystonia	OMIM:619255
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Mitochondrial Complex I Deficiency, Nuclear Type 37	Opisthotonus, High palate, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Bradycardia...	ORPHA:90673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Goiter	ORPHA:226313
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Castleman Disease	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Jaundice, Weight l...	ORPHA:160
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal...	OMIM:301900
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycard...	OMIM:608800
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Short mandibula...	OMIM:141300
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Gm1-Gangliosidosis, Type Iii	Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ma...	OMIM:606612
Glossopharyngeal Neuralgia	Jaw claudication, Weight loss, Syncope, Bradycardia, Tongue pain, Abnormality of the cervical spi...	ORPHA:221098
Mcdonough Syndrome	Cachexia, Open bite, Cryptorchidism, Kyphosis, Dental malocclusion, Short philtrum, Scoliosis, Ab...	ORPHA:2471
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	OMIM:615084
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Dystonia, Ataxia, Kyphosis, Unsteady gait, Obesity, Downturned corners of mouth, S...	ORPHA:464282
Ck Syndrome	Dental crowding, Hyperlordosis, Kyphosis, High palate, Scoliosis, Slender build	OMIM:300831
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Limb dystonia	ORPHA:319199
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, S...	OMIM:252605
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Villous atrophy, Failure t...	OMIM:557000
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Tip-toe gait, Scoliosis, Failure to...	ORPHA:536516
Acitretin/Etretinate Embryopathy	High palate, Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia, Median c...	ORPHA:40366
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:99014
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Yellow Fever	Shock, Low back pain, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase conc...	ORPHA:99829
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276580
Lujo Hemorrhagic Fever	Shock, Resting tremor, Elevated circulating C-reactive protein concentration, Myocarditis, Leukoc...	ORPHA:319213
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia	OMIM:609286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:618138
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Splenomegaly, Congestive heart failure, In...	ORPHA:465508
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Ataxia	ORPHA:31
Aapoaiv Amyloidosis	Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co...	ORPHA:439232
D-Glyceric Aciduria	Failure to thrive, Nonketotic hyperglycinemia, Bradycardia, Opisthotonus	OMIM:220120
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Bradykinesia, Scoliosis, Dystonia	OMIM:617435
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi...	OMIM:169400
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, High palate, Kyphosis, Short neck	OMIM:618393
Zimmermann-Laband Syndrome 3	Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula	OMIM:618658
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Kyphosis, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion b...	OMIM:615834
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short neck, Microcytic anemia, Cryptorchidism, High palate, Failure to thrive, HbH hemoglobin	ORPHA:98791
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Melioidosis	Shock, Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Sp...	ORPHA:31202
Alpha-Mannosidosis	Hepatomegaly, Short neck, Open bite, Splenomegaly, Kyphosis, Dental malocclusion, Gingival overgr...	ORPHA:61
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Weight loss, Enlargement of parot...	ORPHA:79078
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnorm...	ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia, Opisthotonus	OMIM:619814
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Kyphosis, Downturned cor...	OMIM:615761
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Prominent median ...	OMIM:300602
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis	ORPHA:87876
Rett Syndrome	Dystonia, Cachexia, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis,...	OMIM:312750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Dysmetria, Scoliosis, Abnormality of the cervical spine, Intention tremor	ORPHA:48431
Marinesco-Sjogren Syndrome	Ataxia, Elevated circulating creatine kinase concentration, Kyphosis, Limb ataxia, Gait ataxia, S...	OMIM:248800
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Hand tremor, Scoliosis, Head tremor, Upper limb dysmetria, Limb dysmetria, Spastic gait	OMIM:614409
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating...	ORPHA:26793
Srd5A3-Cdg	Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor...	ORPHA:324737
Proximal Spinal Muscular Atrophy	Inability to walk, Thoracic kyphosis, Tongue fasciculations, Bradycardia, Scoliosis, Difficulty w...	ORPHA:70
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis, Abnormality of the dentition	ORPHA:1548
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Kyphosis, High palate, Scoliosis, Failure to thrive, Slender build,...	OMIM:254090
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	ORPHA:352447
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Kikuchi-Fujimoto Disease	Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Myocar...	ORPHA:50918
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Inability to walk, Kyph...	OMIM:128100
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Ovoid vertebral bo...	OMIM:260400
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Hereditary Coproporphyria	Hyponatremia, Back pain, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellula...	ORPHA:79273
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis	OMIM:617768
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:91547
Atypical Rett Syndrome	Tremor, Kyphosis, Inability to walk, Gait ataxia, Pill-rolling tremor, Gait disturbance, Scoliosi...	ORPHA:3095
Microcephalic Primordial Dwarfism, Montreal Type	Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congenital pyloric atresia, Vertebral segment...	ORPHA:2617
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Cryptorchidism, Kyphosis, Short philtrum, Scoliosis, Narrow mouth	ORPHA:352490
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Kyphosis, High, narrow palate, Gait disturbance, Scoliosis	ORPHA:2181
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Long philtrum, Ataxia, Hyperlordosis, Gingival ove...	ORPHA:354
Alg1-Cdg	Kyphosis, Cardiomyopathy, Hypoalbuminemia, Protein-losing enteropathy, Scoliosis	ORPHA:79327
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance, Dystonia	OMIM:614898
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ...	ORPHA:94065
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Kyphosis, Thick lower lip vermilion, Abnormal form of the vertebral...	ORPHA:812
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea...	ORPHA:449395
Crisponi Syndrome	Sudden cardiac death, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum	ORPHA:1545
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Typical Nemaline Myopathy	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyp...	ORPHA:171436
Trichohepatoenteric Syndrome 1	Villous atrophy, Hepatic fibrosis, Hypoalbuminemia, Bifid uvula, Long philtrum, Hepatomegaly, Inc...	OMIM:222470
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Gait ataxia, Wide mouth, Macroglossi...	OMIM:300354
Hemochromatosis, Type 1	Hepatomegaly, Splenomegaly, Congestive heart failure, Increased circulating ferritin concentratio...	OMIM:235200
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Short neck, Cryptorchidism, Hyperlipidemia, Kyphosis, Obesity, Cleft palate...	ORPHA:254346
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Long philtrum, Failure to thrive	OMIM:608776
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Ataxia, Hyperlordos...	OMIM:618443
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border	OMIM:616455
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis	ORPHA:178148
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Choreoathetosis, Gait disturbance, Scol...	ORPHA:702
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Protruding tongue, Diastema, Cryptorchidism, Kyphosis, Reduced alpha/beta synthes...	OMIM:301040
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Ectopic thyroid, Hyperbilir...	OMIM:218700
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, High palate, Neutropenia, Hypere...	OMIM:617941
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Dental malocclusion, Scoliosis, Abnormality of the dentition	ORPHA:1858
Blau Syndrome	Pericarditis, Splenomegaly, Xerostomia, Large vessel vasculitis, Hypertension, Abnormality of the...	ORPHA:90340
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Widely spaced tee...	OMIM:619797
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Tremor, Weight loss, Hypokalemia, Goiter	OMIM:613239
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, High palate, Scoliosis	OMIM:300676
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Short neck, Splenomegaly, Congestive heart failure, Va...	OMIM:230500
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Weight loss, Inflammation of ...	OMIM:181000
Myopathy, Centronuclear, 2	Waddling gait, Hyperlordosis, Kyphosis, High palate, Scoliosis	OMIM:255200
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
4Q21 Microdeletion Syndrome	Short neck, Abnormality of the dentition, Kyphosis, Tremor, Downturned corners of mouth, Thin ver...	ORPHA:238750
Jaberi-Elahi Syndrome	Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, S...	OMIM:617988
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Dental crowding, Cryptorchidism, ...	OMIM:615381
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Kyphosis, Exaggerated startle response, Scoliosis	OMIM:609541
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne...	ORPHA:423479
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Villous atrophy, Thin upper lip vermilion, Ataxia, Tremor, Kyphosis, ...	OMIM:212065
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies	ORPHA:3344
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Gingival overgrowth, Wide mouth, Sh...	ORPHA:137834
Schaaf-Yang Syndrome	Abnormality of the philtrum, Failure to thrive in infancy, Cryptorchidism, Kyphosis, Inability to...	OMIM:615547
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Gingival b...	ORPHA:77259
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Cleft p...	ORPHA:2635
Hypomelanosis Of Ito	Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis	OMIM:300337
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the...	OMIM:253000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Polycystic ovaries, Decreased testicular size	ORPHA:3085
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration...	ORPHA:89842
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormality of the tongue, Abnormal form of the vertebral bodies, Cleft pal...	ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Flynn-Aird Syndrome	Ataxia, Cachexia, Carious teeth, Kyphosis, Scoliosis	ORPHA:2047
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Encephalitis Lethargica	Tremor, Lethargy, Bradycardia	ORPHA:83600
Bohring-Opitz Syndrome	Cleft lip, Inability to walk, Cleft palate, Bradycardia, Severe failure to thrive, Cholelithiasis...	ORPHA:97297
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Cachexia, Short neck, Open bite, Kyphosis, Tremor, Thick lower lip vermilion, O...	ORPHA:85293
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Decreased heart rate variabili...	OMIM:619005
Alstrom Syndrome	Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypertriglycerid...	OMIM:203800
Wieacker-Wolff Syndrome	Dystonia, Hyperlordosis, Short neck, Kyphosis, High palate, Broad alveolar ridges, Scoliosis, Lon...	OMIM:314580
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Kyphosis, Obesity, Hyperuricemia, Narrow mouth	ORPHA:261222
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Hiatus hernia, Persistence of hemoglob...	OMIM:619769
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Abnormality of the dentition, Tremor, Kyphosis, Gait ataxia, Erup...	ORPHA:476126
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis, Falls, Difficulty walking	ORPHA:3198
Alveolar Echinococcosis	Low back pain, Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cys...	ORPHA:284
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Abnormal form of the vertebral bo...	ORPHA:1305
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Dilated cardiomyop...	ORPHA:79404
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis	OMIM:112350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Kyphosis, Dystonia, Gait ataxia	ORPHA:500180
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Kyphosis, High palate, Short philtrum, Decreased testicular size	OMIM:615433
Cockayne Syndrome Type 2	Hepatomegaly, Ataxia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Widely spaced ...	ORPHA:90322
Sjögren-Larsson Syndrome	Kyphosis, Abnormal dental enamel morphology, Scoliosis	ORPHA:816
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Bradykinesia, Open mouth, Tr...	ORPHA:97349
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Abnormal cardiac ventricular function, Parotitis, Eosinophilia, P...	ORPHA:797
Emanuel Syndrome	Sacral dimple, Torticollis, Dental crowding, Intestinal malrotation, Delayed eruption of primary ...	OMIM:609029
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Oral ulcer, Hyperte...	OMIM:232220
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the od...	OMIM:253010
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Allodynia, Abn...	ORPHA:252164
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Jaundice, Bradycardia, Neutropenia, Failure to thrive	OMIM:617248
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Thick lower lip vermilion, Macrogloss...	ORPHA:583
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Open mouth	OMIM:614653
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Atelis Syndrome 2	Sacral dimple, Diastema, Kyphosis, Thick lower lip vermilion, Dysmetria, Supravalvar pulmonary st...	OMIM:620185
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Im...	ORPHA:330015
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Thin upper lip vermilion, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal live...	ORPHA:456312
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Kyphosis, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum,...	ORPHA:364028
Porphyria Cutanea Tarda	Viral hepatitis, Decreased circulating hepcidin concentration, Hepatocellular carcinoma, Abnormal...	ORPHA:101330
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Deep philtrum, Kyphosis, Cleft ...	ORPHA:404440
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali...	ORPHA:582
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Lumbar hyperlordosis, Short neck, Congestive heart failure,...	ORPHA:505248
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Kyphosis, Mitral regurgitation, Thick vermilion...	OMIM:607015
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ...	OMIM:618056
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Scoliosis, Absent or ...	ORPHA:1190
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Kyphosis, Inability to walk, Cleft palate, Downturned corners of mouth, Scoliosis, Lo...	OMIM:301041
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis	OMIM:259440
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Obesity, Hypertension, Hypokalemia, Abdominal obesity, Biconcave ver...	OMIM:219090
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Thoracolumbar ...	OMIM:610199
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis, Narrow mou...	OMIM:251450
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Dental crowding, Scoliosis	OMIM:180870
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Short neck, High palate, Decreased body weigh...	ORPHA:800
Pycnodysostosis	Decreased response to growth hormone stimulation test, Delayed eruption of primary teeth, Hyperlo...	ORPHA:763
Combined Oxidative Phosphorylation Deficiency 39	Dystonia, Scoliosis, Sinus bradycardia	OMIM:618397
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis	ORPHA:79107
Cowden Syndrome 1	Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous pol...	OMIM:158350
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegal...	ORPHA:464329
15Q14 Microdeletion Syndrome	Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S...	ORPHA:261190
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Failure to thrive, Intestinal malrotation, Supernumerary n...	OMIM:605039
Harrod Syndrome	Cryptorchidism, Kyphosis, Dental malocclusion, High palate, Scoliosis, Narrow mouth, Failure to t...	ORPHA:2115
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Exaggerated startle response, Scoliosis	ORPHA:320406
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Abnormality of the d...	ORPHA:193
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Opisthotonus, T lymphocytopenia, Abnormality of the cervical spin...	ORPHA:508533
Urban-Rogers-Meyer Syndrome	Abnormality of the philtrum, Short neck, Cryptorchidism, Kyphosis, Obesity	ORPHA:3409
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Dental crowding, Tremor, Kyphosis, Oligodontia, High palate, Short phil...	OMIM:617061
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se...	ORPHA:587
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Decreased response to growth hormone ...	OMIM:604292
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormal hemoglo...	ORPHA:847
Diastrophic Dysplasia	Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Cleft palate, Scoliosis, Hypopla...	ORPHA:628
Trisomy 20P	Short neck, Abnormality of the dentition, Cryptorchidism, Kyphosis, Abnormal form of the vertebra...	ORPHA:261318
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis, Hemivertebrae, Abnorm...	ORPHA:2916
Neurofibroma	Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib...	ORPHA:252183
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vert...	ORPHA:79255
Pancreatic Agenesis 1	Failure to thrive, Reduced C-peptide level, Exocrine pancreatic insufficiency, Pancreatic hypopla...	OMIM:260370
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Cowden Syndrome 5	Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous pol...	OMIM:615108
Megalocornea-Intellectual Disability Syndrome	Ataxia, Kyphosis, High palate, Short philtrum, Scoliosis, Everted lower lip vermilion, Hyperchole...	ORPHA:2479
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Cryptorchidism, Kyphosis, Narrow mouth, Cleft palate, Downturned corners...	ORPHA:2215
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Waddling gait, Ataxia, Cachexia, Hyperlordosis, Carious ...	ORPHA:1328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Exaggerated start...	ORPHA:438216
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Spina b...	ORPHA:2983
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Fountain Syndrome	Kyphosis, Thick lower lip vermilion, Gingival overgrowth, Abnormal form of the vertebral bodies, ...	ORPHA:3219
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Noonan Syndrome 14	Aortic regurgitation, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Wide mouth, Thic...	OMIM:619745
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Inability to walk, Thick vermilion border, Macrodontia of permanent...	OMIM:620114
Stickler Syndrome, Type I	Kyphosis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Platyspondyly, Morbus...	OMIM:108300
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:181405
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hypoplasia ...	OMIM:253220
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Cryptorchidism, Kyphosis, Abnormal form of t...	ORPHA:2311
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Hypocalcem...	OMIM:618476
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dysmetria, Inflammation of the large intestine, Rectovaginal f...	OMIM:619708
Cowden Syndrome 6	Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous pol...	OMIM:615109
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Ruvalcaba Syndrome	Dental crowding, Cryptorchidism, Kyphosis, Thin vermilion border, Scoliosis, Narrow mouth, Abnorm...	ORPHA:3121
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Supernumerary nipple, Cryptorchidism, Kyphosis, Deep philtrum, Short...	OMIM:619951
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weig...	ORPHA:99867
Arthrogryposis, Distal, Type 5	Kyphosis, High palate, Scoliosis	OMIM:108145
Coffin-Lowry Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Kyphosis, Thick lower lip vermilion, Abnor...	ORPHA:192
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Wide mouth, Ab...	ORPHA:2062
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Cleft upper lip, Cryptorchidism, Kyph...	OMIM:610443
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Tented upper lip vermilion, Dystonia, Kyphosis, High palate, Long p...	ORPHA:521426
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growt...	ORPHA:1855
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Cryptorchidism...	ORPHA:96169
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Kyphosis, Hypoplasti...	ORPHA:79329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration, Spinal rigidity...	OMIM:253800
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Supernumerary nipple, Kyphosis, Mitral regurgitation, High palate, Everted ...	ORPHA:261349
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism, Kyphosis, Downturned corn...	OMIM:617602
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Short neck, Splenomegaly, Hypoplasia of the odontoid process,...	OMIM:607014
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Alexander Disease	Ataxia, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Tremor, Hypertension, High pal...	ORPHA:58
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys...	ORPHA:845
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Failure to thrive, Right ventricula...	ORPHA:1329
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increa...	ORPHA:84064
Trisomy 13	Median cleft lip, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Kyphosis, Cl...	ORPHA:3378
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Supernumerary nipple	ORPHA:64755
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Ataxia, Kyphoscoliosis, Inability to walk, Cleft palate, Downturned corners of mouth, Gait imbala...	ORPHA:488642
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Large for gestational age, Sp...	ORPHA:116
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Marden-Walker Syndrome	Short neck, Cryptorchidism, High, narrow palate, Kyphosis, Pyloric stenosis, Cleft palate, High p...	OMIM:248700
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Hepatosplenomegaly, ...	OMIM:268800
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Short neck, Splenomegaly,...	OMIM:309900
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Periodontitis, Lo...	ORPHA:534
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Supernumera...	OMIM:268400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Tented upper lip vermilion, Kyphosis, High palate, Long philtrum, F...	OMIM:617527
3C Syndrome	Intestinal malrotation, Short neck, Kyphosis, High, narrow palate, Hemivertebrae, Orofacial cleft...	ORPHA:7
Craniorachischisis	Bifid sternum	ORPHA:63260
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Cryptorchidism, Esophageal atresia, Annular pancreas, Re...	OMIM:227646
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis	ORPHA:88628
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Autosomal Recessive Ataxia, Beauce Type	Ataxia, Kyphosis, Dysmetria, Gait disturbance, Arm dystonia, Scoliosis	ORPHA:88644
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Kyphosis, Non-midl...	ORPHA:2075
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Abnormality of the dentit...	ORPHA:1798
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis...	OMIM:162300
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Ovarian cyst, Hypertension, Truncal obesity, Pancreatitis	OMIM:610475
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Premature loss of teeth, Failure t...	OMIM:239000
Fucosidosis	Hepatomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladder, Anterior be...	ORPHA:349
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip vermilion, Scoliosis, Smoot...	ORPHA:261144
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, Failure to thrive in infancy, Kyphoscoliosis, Short ...	ORPHA:96149
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Kyphosis, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic s...	OMIM:619123
Jacobsen Syndrome	Smooth philtrum, Intestinal malrotation, Short neck, Cryptorchidism, Pyloric stenosis, Abnormal f...	ORPHA:2308
Lateral Meningocele Syndrome	Dental crowding, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Abnorm...	ORPHA:2789
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Ataxia, Kyphosis, Truncal ataxia, Tongue fasciculations, Scoliosis, Gait imbalance	OMIM:211530
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Abnormal palate morphology, Short neck	ORPHA:3082
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Failure to thrive, Short philtrum	OMIM:617864
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Kyphosis, Scoliosis	ORPHA:1883
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Ataxia, Dysmetria, Hepatic fibrosis,...	OMIM:616263
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J...	ORPHA:137675
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Short philtrum,...	OMIM:616449
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Hypertension, Truncal obesity, Macronodular adrenal hyperplasia	OMIM:219080
Hemorrhagic Fever-Renal Syndrome	Shock, Back pain, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Elevated circulating creatin...	ORPHA:340
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increase...	ORPHA:2616
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Kyphosis, Short philtrum, H...	OMIM:619244
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Thin upper lip vermilion, Sacral dimple, Dystonia, Ataxia, Short neck, Tremor, Kyphosis, High, na...	OMIM:300966
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Increased circulating NT-proBNP concentrati...	ORPHA:466677
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Kyphosis, High, narrow palate, Inability to ...	ORPHA:464738
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Myocardial infarction, Pancre...	ORPHA:892
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, High, narrow palate,...	OMIM:177850
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Ataxia, Tremor, C...	OMIM:300967
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Obesity, Thick vermilion border, Scoliosis	OMIM:618493
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b...	ORPHA:392
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Subdural hemorrhage, Scoliosis, Spina bifida occulta	OMIM:618291
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Abnormal palate morpho...	ORPHA:3042
Abnormal Hair, Joint Laxity, And Developmental Delay	Microdontia, Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Short neck, Kyphosis, Hemivertebrae, Tracheoesophageal fistula,...	ORPHA:958
Osteogenesis Imperfecta, Type Iii	Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ...	OMIM:259420
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Tricuspid regurgitation, Short neck, Cryptorchidism, Kyphosis, Cleft lip, Dental m...	OMIM:616894
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso...	OMIM:602535
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Jacobsen Syndrome	Short neck, Cryptorchidism, Pyloric stenosis, Annular pancreas, U-Shaped upper lip vermilion, Fai...	OMIM:147791
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Short neck, Cryptorchidism, Kyphosis, Cleft palate, High palat...	OMIM:130720
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti...	OMIM:200995
Sandhoff Disease, Infantile Form	Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Dilated cardiomyopathy, Kyphosis, Spinal canal stenosi...	ORPHA:1606
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Failure ...	ORPHA:798
Hyperekplexia 3	Exaggerated startle response, Syncope, Hiatus hernia	OMIM:614618
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Kyphosis, Scoliosis, Pulmonic stenosis	OMIM:609008
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Rat-Bite Fever	Back pain, Pericarditis, Myocarditis, Weight loss, Anemia, Pancreatitis, Parotitis	ORPHA:31205
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Dental malocclusion, Cleft palate,...	OMIM:265000
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Cryptorchidism, Kyphosis, Xerostomia, Increased body weight, Downturned...	ORPHA:398069
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Orofaciodigital Syndrome Type 1	Tremor, Lobulated tongue, High palate, Ataxia, Abnormal dental enamel morphology, Accessory oral ...	ORPHA:2750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ...	OMIM:619475
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Intestinal malrotation, Short neck, Hypoplastic 5th lumbar vertebr...	ORPHA:955
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Smooth philtrum, Hepatomegaly, Ataxia, Cholangitis, Accessory oral frenulum, Short neck, Pancreat...	OMIM:266920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Median cleft lip, Hamartoma of tongue, Intestinal m...	OMIM:263520
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Reduced C-peptide level, Hypoamylasemia, High pala...	ORPHA:556955
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidi...	ORPHA:536532
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotat...	OMIM:229850
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Vertebral s...	ORPHA:1507
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Familial Osteodysplasia, Anderson Type	Carious teeth, Kyphosis, Abnormal form of the vertebral bodies, Hypertension, Hyperuricemia, Scol...	ORPHA:2769
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Waddlin...	OMIM:143095
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Widely spaced tee...	OMIM:300942
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Kyphosis, Gait disturbance, Scoliosis, Failure to thrive	ORPHA:500055
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Abnormality of the dentitio...	ORPHA:568
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Cockayne Syndrome B	Hepatomegaly, Ataxia, Small for gestational age, Delayed eruption of primary teeth, Carious teeth...	OMIM:133540
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis, Sinus bradycardia	OMIM:619482
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Kyphosis, Tip-toe gait, High palate, Scoliosis, Narrow mouth, Failure t...	OMIM:618050
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Cryptorchidism, Cleft lip, Furrowed tongue, High palate, Broad alveolar rid...	OMIM:616975
Mend Syndrome	Sacral dimple, Asymmetry of the mouth, Cryptorchidism, Kyphosis, Elevated 8(9)-cholestenol, Eleva...	ORPHA:401973
Cockayne Syndrome	Progressive gait ataxia, Intention tremor, Hepatomegaly, Abnormal dental morphology, Ataxia, Cryp...	ORPHA:191
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormality of the philtrum, Ataxia, Cleft upper lip, Cryptorchidism, Kyphosis, Ab...	ORPHA:280
Cockayne Syndrome A	Hepatomegaly, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Splenomeg...	OMIM:216400
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Kyphosis, Inabili...	ORPHA:576
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Cryptorchidism, D...	ORPHA:438213
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intest...	OMIM:106300
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:617190
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Tented upper lip vermilion, Short philtrum, Everted lower lip vermi...	OMIM:617281
Igg4-Related Pachymeningitis	Low back pain, Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:449427
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Tremor, Rectal prolaps...	ORPHA:904
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Kyphoscoliosis, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Unsteady ga...	ORPHA:3063
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Tracheoesoph...	OMIM:164280
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, High palate, Dentinogenesis imperfecta	OMIM:616294
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Mitral regurgitation, Thoracic scoliosis	OMIM:603387
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Kyphosis, Athetosis, Scoliosis, Dystonia	OMIM:613454
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis	OMIM:619909
2Q31.1 Microdeletion Syndrome	Short neck, Cryptorchidism, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, V...	ORPHA:251014
Micro Syndrome	Cryptorchidism, Kyphosis, High palate, Short philtrum, Scoliosis	ORPHA:2510
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Dental crowding, Pulmonary embolism, Kyphosis, Esophag...	ORPHA:394
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vert...	ORPHA:2050
Distal Triplication 15Q	Large for gestational age, Kyphosis, Hydrocele testis, High palate, Scoliosis	ORPHA:314588
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Large...	ORPHA:77301
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchidism, K...	ORPHA:464306
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Pancreatic And Cerebellar Agenesis	Failure to thrive, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Thick lower lip vermilion, Wide mouth, Macrogloss...	OMIM:208400
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g...	OMIM:149730
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Cleft upper lip, Open bite, Kyphosis,...	ORPHA:828
Trisomy 8P	Sacral dimple, Short neck, Cryptorchidism, Malrotation of small bowel, Heart murmur, Cleft palate...	ORPHA:264450
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Small for gestational age, Cryptorchidism, Kyphosis, Posterior pituitary hy...	ORPHA:464311
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Anal atresia, Intestinal malrotation, Asplenia, Esophageal atresia, Cleft li...	OMIM:265380
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis	ORPHA:1005
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Pancreatic Agenesis 2	Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr...	OMIM:615935
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia	OMIM:615574
Cono-Spondylar Dysplasia	Kyphosis, Failure to thrive, Scoliosis, Short neck	ORPHA:420794
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, High palate, Bradycardia	OMIM:614437
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Cryptorchidism, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Microdontia	OMIM:619718
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Hepatic hemangioma, Pheochromocytoma, P...	OMIM:193300
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism...	ORPHA:564
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Abnormal form of the vertebral bodies, Loss of am...	ORPHA:666
Prader-Willi Syndrome	Thin upper lip vermilion, Failure to thrive in infancy, Decreased response to growth hormone stim...	OMIM:176270
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Cowden Syndrome	Ataxia, Enlarged polycystic ovaries, Goiter, Kyphosis, Furrowed tongue, Hamartomatous polyposis, ...	ORPHA:201
Cockayne Syndrome Type 3	Hepatomegaly, Carious teeth, Splenomegaly, Kyphosis, Unsteady gait, Subdural hemorrhage, Retinal ...	ORPHA:90324
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Congestive heart failure, Kyphosis, Platyspondyly, Pulmonary arterial hyper...	OMIM:616482
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Occipital Horn Syndrome	Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Abnormality of the dentition, Kyphosis, Submucous cleft...	OMIM:617140
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response	OMIM:620327
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Telangiectasia, Scolio...	OMIM:266270
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Short neck,...	ORPHA:818
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Sacral dimple, Broad-based gait, Ataxia, Decreased response to growth hormo...	ORPHA:268261
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Deep philtr...	OMIM:619194
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis	OMIM:615503
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr...	OMIM:309000
Mosaic Trisomy 20	Vertebral fusion, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused...	ORPHA:1724
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, High palate, Kyphosis, High, narrow palate	OMIM:616914
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, High palate, Scoliosis	OMIM:617011
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension, Kyphosis, Truncal obesity	OMIM:610489
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Kyphosis, Cleft palate, Wide mouth...	ORPHA:85199
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Short hard palate, Scoliosis	ORPHA:1969
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Cleft palate, Scoliosis	ORPHA:140
Osteogenesis Imperfecta, Type Iv	Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Cleft upper lip, Cr...	OMIM:194190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, High pala...	ORPHA:457359
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Downturned corners of mouth, Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:619557
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Den...	OMIM:249420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Abnormal dental morphology, Decreased response to growth hormone stimulation test,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Abnormal dental morphology, Decreased response to growth hormone stimulation test,...	ORPHA:363958
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Coffin-Lowry Syndrome	Kyphosis, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate, Lumbar ...	OMIM:303600
Lymphedema-Distichiasis Syndrome	Kyphosis, Arrhythmia, Cleft palate, Cleft upper lip	OMIM:153400
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight, Anal atr...	OMIM:182210
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ...	ORPHA:93111
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Kyphosis, High, narrow palate, Supernumerary tooth, Narrow pal...	OMIM:119600
Marden-Walker Syndrome	Kyphosis, Pyloric stenosis, Submucous cleft hard palate, Abnormal form of the vertebral bodies, C...	ORPHA:2461
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, High palate	OMIM:618162
Cdags Syndrome	Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, Anal atresia	OMIM:603116
Mend Syndrome	Sacral dimple, Cryptorchidism, Kyphosis, High palate, Aortic valve stenosis, Failure to thrive, S...	OMIM:300960
Weaver Syndrome	Cryptorchidism, Kyphosis, Hydrocele testis, Scoliosis, Long philtrum	OMIM:277590
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Kyphosis, Dysmetria, Dysdiadochokinesis, Difficulty walking	ORPHA:171629
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Thin upper lip vermilion, Streak ovary, Lumbar hyperlordosis, Cryptorchidism, Increased circulati...	ORPHA:2232
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, High palate, Short philtrum	OMIM:609944
Marfan Syndrome	Dental crowding, Cachexia, Open bite, Congestive heart failure, Kyphosis, High, narrow palate, Cl...	ORPHA:558
Osteogenesis Imperfecta, Type Viii	Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta	OMIM:610915
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Somatomammotropinoma	Elevated circulating growth hormone concentration, Abnormality of the dentition, Kyphosis, Pituit...	ORPHA:314769
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, Cryptorchidism, High, narrow palate, Kyphosis, Submucous cleft...	ORPHA:2658
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Kinetic tremor, Chronic pancreatitis	OMIM:613159
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Short neck, Abnormali...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Short neck, Abnormali...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Short neck, Abnormali...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Short neck, Abnormali...	ORPHA:99226
Poland Syndrome	Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Acute leukemia, Abnormality of the liver, Ve...	ORPHA:2911
Acromegaly	Elevated circulating growth hormone concentration, Abnormality of the dentition, Kyphosis, Thick ...	ORPHA:963
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Duodenal ulcer, Intestinal ma...	OMIM:135900
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Neurofibromatosis Type 1	Ataxia, Cryptorchidism, Kyphosis, Chronic myelogenous leukemia, Hypertension, Pheochromocytoma, S...	ORPHA:636
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Occipital Horn Syndrome	Hiatus hernia, Kyphosis, Jaundice, High, narrow palate, Hepatitis, Cholestasis, Platyspondyly, Sc...	ORPHA:198
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Sudden cardiac death,...	ORPHA:744
Cerebrocostomandibular Syndrome	Kyphosis, Glossoptosis, Short hard palate, Cleft palate	ORPHA:1393
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, Cryptorchidism, Kyphosis, High palate, Scoliosis, Long ...	OMIM:278250
Primrose Syndrome	Ataxia, Elevated circulating alpha-fetoprotein concentration, Bilateral cryptorchidism, Cryptorch...	OMIM:259050
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Gastrointestinal stroma tumor, Kyphosis, Renovascular hypertension, H...	ORPHA:97685
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Failure to thrive, Duodenitis, Intestinal malrotation, Cl...	OMIM:619472
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Carious teeth, Cryptorchidism, Hydrocele testis, Downturned corners...	OMIM:619522
Sotos Syndrome	Sacrococcygeal teratoma, Aganglionic megacolon, Hypercalcemia, Abnormality of the dentition, Trem...	ORPHA:821
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation...	ORPHA:64
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Cryptorchidism, Kyphosis, Cheilitis, Pl...	ORPHA:2273
Yunis-Varon Syndrome	Thin upper lip vermilion, Absent nipple, Small for gestational age, Anterior concavity of thoraci...	OMIM:216340
Branchiooculofacial Syndrome	Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Cleft upper lip, Malro...	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367

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 Bmp6

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 Bmp6.

No publications found that use IMPC mice or data for Bmp6.

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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
Bmp6^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Bmp6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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Gene: Bmp6 MGI:88182

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Bmp6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data