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Gene: Tmem100 MGI:1915138

Gene Summary

Name:

transmembrane protein 100

Synonyms:

1810057C19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lung morphology	Tmem100^{tm1e.1(KOMP)Wtsi}	HET	Early adult	0.00
decreased circulating calcium level	Tmem100^{tm1e.1(KOMP)Wtsi}	HET	Early adult	5.73×10^-06
increased leukocyte cell number	Tmem100^{tm1e.1(KOMP)Wtsi}	HET	Early adult	1.42×10^-05
abnormal pericardium morphology	Tmem100^{tm1e.1(KOMP)Wtsi}	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Tmem100^{tm1e.1(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal embryo size	Tmem100^{tm1e.1(KOMP)Wtsi}	HET	E9.5	0.00
abnormal embryo size	Tmem100^{tm1e.1(KOMP)Wtsi}	HOM	E9.5	0.00
increased lymphocyte cell number	Tmem100^{tm1e.1(KOMP)Wtsi}	HET	Early adult	7.34×10^-06
pale yolk sac	Tmem100^{tm1e.1(KOMP)Wtsi}	HOM	E9.5	0.00
edema	Tmem100^{tm1e.1(KOMP)Wtsi}	HOM	E9.5	0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Bone	Section images	heterozygote	0.0% (0 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Spinal cord	Section images	heterozygote	0.0% (0 of 2)
Tongue	Section images	heterozygote	0.0% (0 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	50% (1 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Gut	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skeleton	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Gross Morphology Embryo E9.5

Images

12 Images

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X-ray

1 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Tmem100 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 Tmem100 (0 diseases)
Human diseases predicted to be associated with Tmem100 (635 diseases)

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

The table below shows human diseases predicted to be associated to Tmem100 by phenotypic similarity.

Disease	Matching phenotypes	Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Lipedema	Edema	OMIM:614103
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb...	ORPHA:90308
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,...	ORPHA:137667
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Intrauterine growt...	ORPHA:1110
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Short stature	ORPHA:1705
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous fistula, Arteriovenous malformation	OMIM:608354
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia	ORPHA:172
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Arterial Dissection-Lentiginosis Syndrome	Arterial dissection, Arteriovenous malformation	ORPHA:1682
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Congestive heart fa...	ORPHA:615
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp...	ORPHA:53719
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Non-Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141179
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141184
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Adamantinoma	Hypercalcemia	ORPHA:55881
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Ascites	ORPHA:584
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh...	ORPHA:97339
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Blue Rubber Bleb Nevus	Intestinal bleeding, Arteriovenous malformation	ORPHA:1059
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Pulmonary arteriovenou...	ORPHA:2038
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Abnormal lung morphology, Recurrent pneu...	ORPHA:47
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong...	OMIM:614473
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery...	OMIM:208000
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology...	OMIM:608776
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney	OMIM:613885
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P...	ORPHA:99050
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Melorheostosis	Skeletal muscle atrophy, Peripheral arteriovenous fistula, Lymphedema	ORPHA:2485
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Short stature, Lymphedema, Telangiectasia, Intracranial...	ORPHA:109
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension	ORPHA:3222
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati...	ORPHA:1556
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl...	ORPHA:36412
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardi...	OMIM:618280
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Facia...	OMIM:256550
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation	ORPHA:60040
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Fanconi Anemia	Short stature, Spina bifida, Patent ductus arteriosus, Growth delay, Intrauterine growth retardat...	ORPHA:84
Phakomatosis Pigmentovascularis	Arteriovenous malformation	ORPHA:2875
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri...	OMIM:252011
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Tetralogy of Fallot, A...	ORPHA:1166
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Tela...	ORPHA:101028
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl...	ORPHA:2136
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection...	OMIM:616166
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Pelizaeus-Merzbacher Disease	Short stature, Arteriovenous malformation	ORPHA:702
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe...	ORPHA:79093
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular se...	ORPHA:26793
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Fibromuscular Dysplasia, Arterial	Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic...	OMIM:135580
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa...	ORPHA:1120
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial ...	OMIM:253250
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomegaly,...	OMIM:619487
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Growth delay, Pulmonary arterial h...	ORPHA:77259
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr...	ORPHA:1923
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri...	ORPHA:57777
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive ...	OMIM:308240
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval	ORPHA:231111
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Short stature, Coarctation of aorta	OMIM:615502
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Hypophosphatasia	Emphysema, Hypercalcemia, Anemia	ORPHA:436
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
8P23.1 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arterios...	ORPHA:251071
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Abnormal vascular morphology, Perica...	ORPHA:781
Currarino Syndrome	Arteriovenous malformation	ORPHA:1552
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytop...	ORPHA:37042
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal...	OMIM:620210
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi...	OMIM:619281
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Ascites, Cardiomegaly	ORPHA:858
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Abnormal ...	ORPHA:464329
Bacterial Toxic-Shock Syndrome	Pneumonia, Elevated circulating creatine kinase concentration, Abscess, Respiratory tract infecti...	ORPHA:36234
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu...	ORPHA:3426
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites	OMIM:269920
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h...	OMIM:619178
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopathy, Mitr...	OMIM:212140
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Superficial Siderosis	Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous malformation, Lower ...	ORPHA:247245
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Lymphoproliferative Syndrome 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:613011
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Coarctation of a...	OMIM:606003
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal...	ORPHA:1926
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Diaphragmatic even...	OMIM:608978
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General...	OMIM:139210
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contr...	OMIM:212065
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Hypoalbuminemia...	OMIM:618183
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Leukocytos...	ORPHA:544482
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath...	OMIM:235200
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint swelling, Dilatation of t...	ORPHA:287
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia	OMIM:618440
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Microphthalmia, Syndromic 9	Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Congenital ...	OMIM:601186
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration pneumonia	ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Oligohydramnios...	OMIM:615846
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Immunodeficiency 92	Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia...	OMIM:619652
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypopl...	ORPHA:79328
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia, Abnormality of the pulmonary veins	ORPHA:2306
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites, Viscerom...	ORPHA:2905
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Splenomegaly, Pulmonary lymphangiectasia, Hypocalcemia	OMIM:235255
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Coarctation of aorta, Growth delay, Atrial septal defect, Pulmonary art...	OMIM:614857
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Dehydration, Polyhydramnios, Coarctation of aorta	OMIM:616069
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Recurrent lower respiratory tr...	OMIM:617913
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemi...	OMIM:209950
Sanjad-Sakati Syndrome	Recurrent respiratory infections, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio...	OMIM:614921
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph...	OMIM:617713
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Hypocalcemia, Recurrent pneumonia	OMIM:607143
Noonan Syndrome 9	Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Vascular Ehlers-Danlos Syndrome	Internal hemorrhage, Peripheral arteriovenous fistula, Short stature, Ascending tubular aorta ane...	ORPHA:286
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp...	ORPHA:99094
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert...	ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric...	ORPHA:99827
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Noonan Syndrome 10	Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nuchal translucency...	OMIM:616564
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp...	OMIM:602782
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Pulmonary arterial hyper...	OMIM:613320
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor...	OMIM:605275
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio...	OMIM:620080
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypomagnesemia, Hypocalcemia, Pulmonary edema	ORPHA:73224
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu...	ORPHA:96191
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta	OMIM:217085
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Persistent l...	OMIM:618494
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati...	OMIM:208050
Klippel-Trenaunay-Weber Syndrome	Arteriovenous fistula, Lymphedema	OMIM:149000
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe...	OMIM:270100
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Delayed puberty,...	ORPHA:358
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury...	OMIM:619825
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, T lymphocytopenia, Coomb...	ORPHA:83471
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv...	OMIM:175050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pne...	ORPHA:36238
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Lymphedema, Enlarged polycystic ovaries, Splenomegal...	ORPHA:744
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C...	ORPHA:1708
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Thoracic aortic aneurysm, Transient ischemic attack, Glycogen accumulation in muscl...	ORPHA:365
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Pagod Syndrome	Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total...	ORPHA:991
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Hypovolemic shock, Camptodactyly...	ORPHA:158687
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Short stature, Secundum atrial septal defect, Coarctation of aorta, Pe...	OMIM:600987
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture,...	ORPHA:1900
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Velocardiofacial Syndrome	Pulmonary artery atresia, Hypocalcemia, Unilateral primary pulmonary dysgenesis	OMIM:192430
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intraute...	OMIM:300514
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Infantile Myofibromatosis	Neoplasm of the lung, Hypercalcemia	ORPHA:2591
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Pulmonary edema	ORPHA:31826
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Pulmonary artery ...	ORPHA:3342
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Atrial ...	OMIM:617159
Acrocardiofacial Syndrome	Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Splenomegaly, Pulmonary artery stenosis, Hypocalcemia, Hypophos...	ORPHA:667
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Abnormal pulmonary interstitial morphology, Hypoalbuminemia, Hypocalcemia, Unconjug...	OMIM:613658
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion	ORPHA:167
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Coarctation of aorta,...	OMIM:614114
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lympha...	ORPHA:538
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Growth delay, Macroglossia, Abnor...	ORPHA:96147
Cartilage-Hair Hypoplasia	Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ...	ORPHA:465508
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Patent ductus arteriosus, Coarctation of aorta, Card...	ORPHA:3338
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta	OMIM:618929
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Liver Disease, Severe Congenital	Hyponatremia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Increased circulat...	OMIM:619991
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu...	OMIM:105210
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Coarctation of aorta, M...	ORPHA:371428
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217085
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Perianal...	OMIM:301074
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d...	ORPHA:284984
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature...	ORPHA:580
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Short stature, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal transluce...	ORPHA:1052
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior...	OMIM:616843
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Coarctation of aorta, ...	OMIM:617602
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy...	ORPHA:199299
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sh...	ORPHA:217093
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ...	ORPHA:397
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Coarctation of aorta, Growth delay, Intrauterine growth retardat...	ORPHA:2409
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort...	OMIM:620025
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno...	OMIM:608013
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Short stature, Double out...	ORPHA:1596
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Coarctation of aorta, Pulmonic stenosis, Atrial sept...	OMIM:300867
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C...	OMIM:264480
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Oculoectodermal Syndrome	Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Growth del...	OMIM:600268
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Meester-Loeys Syndrome	Short stature, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dil...	OMIM:300989
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Increased...	OMIM:608836
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus ...	OMIM:617506
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Ple...	ORPHA:29073
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
22Q11.2 Deletion Syndrome	Splenomegaly, Atelectasis, Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Thromb...	ORPHA:567
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Short stature, Coarctation of aorta	OMIM:617260
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ...	ORPHA:17
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, Facial palsy, Coarctation of aorta, Aortic valve stenosis, Spina bifida occ...	ORPHA:2780
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy...	OMIM:300855
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ...	OMIM:245600
Fryns Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardia...	ORPHA:2059
Fg Syndrome Type 1	Progressive flexion contractures, Short stature, Mitral valve prolapse, Coarctation of aorta, Pul...	ORPHA:93932
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Stroke	OMIM:603903
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries	ORPHA:293181
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se...	ORPHA:79330
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
2Q37 Microdeletion Syndrome	Umbilical hernia, Abnormal aortic morphology, Short stature, Congenital diaphragmatic hernia	ORPHA:1001
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly,...	OMIM:252500
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Pate...	ORPHA:2745
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Hypocalcemia	OMIM:218330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Tricuspid regurgitation, Polyhydramnios, Patent ductus arteriosus, Aorti...	OMIM:614557
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Pulmonary artery stenosis, Coarc...	ORPHA:261494
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Patent ductus arterios...	OMIM:618454
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation	OMIM:618343
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr...	OMIM:618143
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Interstitial pneumonitis, Lymphocytosis	ORPHA:139402
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo...	ORPHA:90068
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel...	OMIM:617718
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Raynaud phenomenon, Calcifica...	ORPHA:51
Digeorge Syndrome	Atelectasis, Thrombocytopenia, Recurrent pneumonia, Splenomegaly, Hypoplasia of the thymus, Hypoc...	OMIM:188400
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Abnormal pleura morphology, Eosinophilia, Thrombocytopenia, Abno...	ORPHA:797
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherr...	OMIM:230000
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Galloway-Mowat Syndrome 3	Short stature, Edema, Coarctation of aorta, Hypertension, Camptodactyly, Intrauterine growth reta...	OMIM:617729
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni...	ORPHA:1692
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ...	ORPHA:558
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Intrauterine growth ...	OMIM:617557
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Hardikar Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Portal hypertension, Hematemesis, Splenom...	OMIM:301068
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:1507
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Coarctat...	OMIM:616145
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarctation ...	OMIM:617088
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals...	OMIM:619480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Facia...	ORPHA:508498
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia	OMIM:619503
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypoplastic left heart, Short stature, Coarctation of aorta	OMIM:277170
Bohring-Opitz Syndrome	Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co...	ORPHA:97297
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Abnormal lung lobation, Hypercalcemia	ORPHA:369837
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,...	OMIM:274000
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, My...	ORPHA:904
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Hypocalcemia, Recurrent bronchitis	OMIM:620330
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular...	ORPHA:508488
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Loeys-Dietz Syndrome	Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic di...	ORPHA:60030
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Coarctati...	OMIM:105650
Robinow Syndrome	Ventricular septal defect, Short stature, Coarctation of aorta, Abnormal heart morphology, Pulmon...	ORPHA:97360
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Meckel Syndrome, Type 1	Occipital encephalocele, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Large p...	OMIM:249000
Noonan Syndrome 1	Ventricular septal defect, Short stature, Lymphedema, Postnatal growth retardation, Patent ductus...	OMIM:163950
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela...	ORPHA:79280
Charge Syndrome	Pulmonary artery atresia, Lymphopenia, Hypocalcemia	OMIM:214800
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Coarctation of aorta	OMIM:244450
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Postnatal growth retardation, Congestive heart failure, Dilatation of the v...	ORPHA:90348
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat...	ORPHA:3472
Jacobsen Syndrome	Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop...	ORPHA:2308
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Abnormal p...	ORPHA:50918
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Short stature, Coarctation of aorta	OMIM:163200
Pheochromocytoma	Hypercalcemia	OMIM:171300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Short stature, ...	ORPHA:353281
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic l...	OMIM:301022
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnor...	ORPHA:124
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Congestive h...	OMIM:182250
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Short stature, Rhabdomyosarcoma, Abnormal internal carotid artery mor...	ORPHA:97685
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Osteopetrosis, Autosomal Recessive 7	Anemia, Splenomegaly, Recurrent pneumonia, Hypocalcemic seizures	OMIM:612301
Alport Syndrome	Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Short stature, Polyhydramnios, Spina bifida, Postnatal growth retardat...	OMIM:180849
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorr...	ORPHA:666
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia	ORPHA:97282
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Tetralogy of Fallot	ORPHA:1199
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction abnormality,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction abnormality,...	ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Short s...	ORPHA:99413
Turner Syndrome	Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Short s...	ORPHA:881
Mosaic Monosomy X	Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Short s...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Atrial septal defect, Prolonged QT interval, Bicuspid aortic valve, Short s...	ORPHA:99226
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple...	OMIM:256040
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int...	ORPHA:79318
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, C...	OMIM:270400
Kabuki Syndrome	Abnormal cardiac septum morphology, Short stature, Congenital diaphragmatic hernia, Coarctation o...	ORPHA:2322
Glucagonoma	Normochromic anemia, Hypercalcemia, Acanthocytosis	ORPHA:97280
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t...	ORPHA:363611
Grfoma	Neoplasm of the lung, Hypercalcemia	ORPHA:97261
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ...	OMIM:220111
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septa...	OMIM:612474
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Short stature, Coarctation of aorta, D...	ORPHA:1772
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Multiple Endocrine Neoplasia Type 2	Neoplasm of the lung, Hypercalcemia	ORPHA:653
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Neonatal short-limb short stature	ORPHA:50945
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Floating-Harbor Syndrome	Short stature, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persiste...	OMIM:136140
Nicolaides-Baraitser Syndrome	Short stature, Coarctation of aorta, Growth delay, Umbilical hernia, Mild short stature, Intraute...	OMIM:601358
Igg4-Related Kidney Disease	Pericarditis, Pedal edema, Abnormal aortic morphology, Arteritis, Enlarged kidney	ORPHA:449395
Ppoma	Hypercalcemia	ORPHA:97278
Pallister-Hall Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Intraut...	ORPHA:672
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Floating-Harbor Syndrome	Short stature, Tetralogy of Fallot, Coarctation of aorta, Growth delay, Atrial septal defect, Mes...	ORPHA:2044
Kabuki Syndrome 1	Ventricular septal defect, Short stature, Postnatal growth retardation, Coarctation of aorta, Gro...	OMIM:147920
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Mild postnatal growt...	OMIM:150230
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Sotos Syndrome	Acute lymphoblastic leukemia, Small cell lung carcinoma, Hypercalcemia, Pulmonary bleb	ORPHA:821
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hern...	OMIM:601803
Williams-Beuren Syndrome	Hypercalcemia, Peripheral pulmonary artery stenosis	OMIM:194050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv...	ORPHA:261552
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Short stature, Patent ductus arteriosus, Flexion c...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Short stature...	ORPHA:261537

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 Tmem100

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tmem100.

No publications found that use IMPC mice or data for Tmem100.

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MGI Allele	Allele Type	Produced
Tmem100^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tmem100^{tm43147(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmem100^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells
Tmem100^{tm1e.1(KOMP)Wtsi}	Promoter excision from Targeted, non-conditional allele	Mice, Tissue

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: Tmem100 MGI:1915138

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E9.5

X-ray

OPT E9.5

Gross Pathology and Tissue Collection

X-ray

X-ray

Embryo LacZ

Adult LacZ

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Eye Morphology

Eye Morphology

Human diseases caused by Tmem100 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data