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Gene: Prkg1 MGI:108174

Gene Summary

Name:

protein kinase, cGMP-dependent, type I

Synonyms:

Prkg1b, Prkgr1b

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
enlarged heart	Prkg1^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
enlarged spleen	Prkg1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Prkg1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal duodenum morphology	Prkg1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased startle reflex	Prkg1^{tm1b(KOMP)Wtsi}	HET	Early adult	3.69×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 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)
Gall bladder	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	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 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	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	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	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	50% (1 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	Ambiguous
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	100% (2 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
Brain	N/A	heterozygote	100% (1 of 1)
Brain	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	Not available
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	100% (1 of 1)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	100% (1 of 1)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	100% (1 of 1)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	Not available
Tail somite	N/A	homozygote	100% (1 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	100% (1 of 1)

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%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	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%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	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%
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)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
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%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

View images

Echo

M-Mode Images

24 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

View images

Human diseases caused by Prkg1 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 Prkg1 (2 diseases)
Human diseases predicted to be associated with Prkg1 (1498 diseases)

The table below shows human diseases associated to Prkg1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection		Aortic regurgitation, High, narrow palate, Transient ischemic attack, Ischemic stroke, Subarachno...	ORPHA:91387
Aortic Aneurysm, Familial Thoracic 8			OMIM:615436

The table below shows human diseases predicted to be associated to Prkg1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Ethanolaminosis	Cardiomegaly	OMIM:227150
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ...	ORPHA:684
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension	OMIM:620734
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Jejunal Atresia	Abnormal abdomen morphology, Jejunal atresia	OMIM:243600
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Myotonia Congenita, Autosomal Recessive	Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Muscle hyper...	OMIM:255700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Myoca...	ORPHA:54057
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Percussion myotonia, Myofibrilla...	ORPHA:34516
Congenital Dyserythropoietic Anemia Type Iii	Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo...	ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic...	OMIM:160800
Harderoporphyria	Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi...	OMIM:617021
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia, Impotence	OMIM:615750
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Myotonic Dystrophy 1	Atrial flutter, Myotonia, Hypogonadism, Facial diplegia, First degree atrioventricular block, Atr...	OMIM:160900
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy	OMIM:611283
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis	OMIM:614262
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anem...	OMIM:615234
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Periventricular Nodular Heterotopia	Aortic regurgitation, Gastroesophageal reflux, Pyloric stenosis	ORPHA:98892
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Pyloric Stenosis, Infantile Hypertrophic, 1	Projectile vomiting, Pyloric stenosis	OMIM:179010
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl...	OMIM:612561
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Congenital Atransferrinemia	Anemia, Hypothyroidism, Abnormality of the pancreas	ORPHA:1195
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S...	ORPHA:71275
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto...	ORPHA:35858
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Percussion myotonia, Elbow flexion contracture,...	OMIM:619040
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:611783
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Skeletal muscle hypertrophy, Muscle mounding	OMIM:600332
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98855
Myotonic Dystrophy 2	Handgrip myotonia, Sternocleidomastoid amyotrophy, Myotonia, Hypogonadism, Palpitations, Weakness...	OMIM:602668
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic a...	ORPHA:2169
Coproporphyria, Hereditary	Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:copropor...	OMIM:121300
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Myotonia, Bundle branch block, Encopresis, Constipation, First...	ORPHA:589821
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98853
Brody Disease	Percussion myotonia, Flexion contracture, Myotonia, Skeletal muscle hypertrophy	OMIM:601003
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Acetazolamide-Responsive Myotonia	Dysphagia, Myotonia, Skeletal muscle hypertrophy	ORPHA:99736
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Rippling Muscle Disease 2	Percussion-induced rapid rolling muscle contractions, Calf muscle hypertrophy, Skeletal muscle hy...	OMIM:606072
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Paramyotonia Congenita	Handgrip myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Paradoxical myotonia	OMIM:168300
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus...	ORPHA:98863
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo...	OMIM:618963
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Nephronophthisis	Anemia	ORPHA:655
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis	OMIM:617408
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Hepatosplenomegaly, Adrenal insufficiency, Reticulocytopenia, Dysplastic erythropoe...	ORPHA:300298
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Morbid Obesity And Spermatogenic Failure	Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Zebra Body Myopathy	Handgrip myotonia, Rimmed vacuoles, Limb-girdle muscular dystrophy, Nemaline bodies, Myofibrillar...	ORPHA:97240
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Erythrocytosis, Familial, 2	Hypotension, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased r...	OMIM:263400
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Hamartomatous polyposis, Colorectal poly...	ORPHA:251992
Fetal Parvovirus Syndrome	Anemia, Ascites, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Myotonia, Potassium-Aggravated	Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Skeletal muscle hypert...	OMIM:608390
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Peroneal muscle atrophy, Myotonia, Camptodactyly of finger, Distal lower limb ...	ORPHA:324442
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia...	ORPHA:86839
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Hepatomeg...	OMIM:613313
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia	OMIM:616176
Hydrops Fetalis, Nonimmune	Anemia, Congestive heart failure	OMIM:236750
Fg Syndrome 3	Joint contracture, Chronic constipation, Pyloric stenosis	OMIM:300406
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Myotonia Permanens	Dysphagia, Myotonia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy	ORPHA:99735
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Myotonia, Congestive heart failure, Myopathy, Arrhythmia, Flexion contra...	ORPHA:682
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Denys-Drash Syndrome	Hypertension	ORPHA:220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, H...	OMIM:235400
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Decreased muscle mass, Asymmetric limb muscle stiffness, Distal lower limb mus...	ORPHA:3101
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myotonia, Myopathy	OMIM:158800
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Skeletal muscle atrophy, Myotonia, Increased muscle glycogen content	ORPHA:371
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi...	OMIM:232800
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis	OMIM:188025
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Duodenal Atresia	Duodenal atresia	OMIM:223400
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Schistocytosis, Th...	OMIM:274150
Hyperaldosteronism, Familial, Type I	Hypertension	OMIM:103900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd...	OMIM:127550
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Myotonia Fluctuans	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ...	ORPHA:99734
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis	OMIM:226700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy...	OMIM:618278
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Myotonia, Skeletal muscle hypertrophy	OMIM:255710
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Upper limb muscle weakness, Myotonia, Lower limb muscle weakness, Proximal amyotrophy, Calf muscl...	ORPHA:209335
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Houge-Janssens Syndrome 1	Facial hypotonia, Chronic diarrhea, Congenital muscular torticollis, Pyloric stenosis	OMIM:616355
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	High palate, Pyloric stenosis	ORPHA:314575
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia	OMIM:612138
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Hypokalemic Periodic Paralysis, Type 1	Myotonia, Myopathy	OMIM:170400
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Int...	ORPHA:284227
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Congestive heart failure	OMIM:209300
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulat...	ORPHA:37748
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h...	OMIM:601859
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis	OMIM:617219
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyo...	ORPHA:3342
Gray Platelet Syndrome	Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Diamond-Blackfan Anemia 7	Macrocytic anemia, Esophagitis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Episodic Ataxia Type 1	Nausea, Calf muscle hypertrophy, Myotonia	ORPHA:37612
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Amyloidosis, Hereditary Systemic 2	Hypertension	OMIM:105200
Glutaric Aciduria Iii	Hypertension	OMIM:231690
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytos...	ORPHA:90038
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro...	ORPHA:88
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai...	ORPHA:363705
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Immunodeficiency 27A	Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphad...	OMIM:209950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hypokalemic Periodic Paralysis, Type 2	Myotonia	OMIM:613345
Thomsen And Becker Disease	Myotonia	ORPHA:614
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo...	OMIM:611376
Immunodeficiency 46	Chronic diarrhea, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thrombo...	OMIM:616740
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia...	ORPHA:261250
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Lipodystrophy, Familial Partial, Type 4	Hypertension	OMIM:613877
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Liddle Syndrome 1	Hypertension	OMIM:177200
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, High palate, Facial palsy, Flexion contracture, Diaphragmatic eventration	OMIM:310400
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Follicular hyperplasia, Intestinal obstr...	ORPHA:160
Trisomy 18P	High, narrow palate, Facial palsy, Pyloric stenosis	ORPHA:1715
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Fg Syndrome Type 1	Gastroesophageal reflux, Abnormal large intestine morphology, Pulmonary arterial hypertension, An...	ORPHA:93932
Transaldolase Deficiency	Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia	ORPHA:101028
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Nephronophthisis 18	Hypertension	OMIM:615862
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevat...	OMIM:620501
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Anemia, Diabetes mellitus	OMIM:606069
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Myotonia	ORPHA:391307
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Pyloric stenosis	OMIM:256300
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Narcolepsy Type 1	Male sexual dysfunction, Female sexual dysfunction, Syncope, Constipation, Hypertension	ORPHA:2073
Ulnar-Mammary Syndrome	Camptodactyly of finger, Decreased fertility, Arrhythmia, Ectopic anus, Anal atresia, Aplasia of ...	ORPHA:3138
Potocki-Shaffer Syndrome	Anemia, Hypothyroidism, Delayed puberty, Hypertension	ORPHA:52022
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
3P25.3 Microdeletion Syndrome	High, narrow palate, Skeletal muscle atrophy, Knee flexion contracture, Pulmonic stenosis, Cleft ...	ORPHA:435638
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Hypogonadism, Limb muscle weakness, Dysphagia, Facial palsy, Hypertension	ORPHA:97229
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, High palate, Cleft palate, Pyloric stenosis	ORPHA:96184
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension	OMIM:611489
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Plin1-Related Familial Partial Lipodystrophy	Infertility, Oligomenorrhea, Hypertension, Calf muscle hypertrophy	ORPHA:280356
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension	OMIM:618182
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension	OMIM:201910
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis	OMIM:218350
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur...	OMIM:616050
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly, Vasculitis in the skin	OMIM:620296
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Babesiosis	Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hem...	ORPHA:108
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Decreased muscle mass...	OMIM:248700
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa...	OMIM:243150
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decre...	ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Myocardial infarction	OMIM:618620
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Idiopathic Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:95717
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Sneddon Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Intermittent diarrhea, Splenomegaly...	OMIM:620632
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Acquired Methemoglobinemia	Vomiting, Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Percussion myotonia, Nemaline bodies, Gastroesophageal reflux, Elbow contracture	OMIM:620275
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Lipodystrophy, Familial Partial, Type 1	Hypertension	OMIM:608600
Kleefstra Syndrome	Gastroesophageal reflux, Arrhythmia, Constipation, Macroglossia, Bowel incontinence, Pyloric sten...	ORPHA:261494
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypopl...	ORPHA:699
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Pyloric stenosis	OMIM:616395
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Wolman Disease	Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased T3/T4 ratio, Constipation, Anemia, Impaired sensitivity to t...	OMIM:614450
Nephroblastoma	Hypertension	ORPHA:654
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Congenital Toxoplasmosis	Diarrhea, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Hemochromatosis, Type 3	Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia	OMIM:604250
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Chromosome 13Q33-Q34 Deletion Syndrome	Anteriorly placed anus, Left ventricular hypertrophy, Anal atresia, Small thenar eminence, Campto...	OMIM:619148
Lowry-Maclean Syndrome	High, narrow palate, Congenital diaphragmatic hernia, Midgut malrotation, Cleft palate, Pyloric s...	ORPHA:2409
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Frequent Giardia lamblia infestation	OMIM:615577
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the...	ORPHA:398124
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Eisenmenger Syndrome	Elevated jugular venous pressure, Hepatomegaly, Right ventricular failure, Tricuspid regurgitatio...	ORPHA:97214
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex...	OMIM:255800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia, Polysplenia	OMIM:619608
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve...	OMIM:275350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascite...	OMIM:226300
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Vasculitis, Aplastic anemia, Hemophagocyt...	OMIM:308240
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Budd-Chiari syndrome, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Pyloric stenosis	ORPHA:261197
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Griscelli Syndrome	Pyloric stenosis	ORPHA:381
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Epistaxis, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Coach Syndrome 2	Hypertension	OMIM:619111
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Lipodystrophy, Familial Partial, Type 5	Hypertension	OMIM:615238
Steinert Myotonic Dystrophy	Handgrip myotonia, Myotonia with warm-up phenomenon, Diarrhea, Intestinal pseudo-obstruction, Ora...	ORPHA:273
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertension	ORPHA:1192
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, He...	OMIM:618495
Coenzyme Q10 Deficiency, Primary, 8	Hypertension	OMIM:616733
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Congestive heart failur...	ORPHA:85450
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Delayed puberty	ORPHA:2598
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili...	OMIM:226990
Cold Agglutinin Disease	Diarrhea, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Submucous cleft hard palate, Congenital muscular torticollis, Contracture of the proximal interph...	ORPHA:457279
Immunodeficiency 76	Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytopenia, Colitis, T lymph...	OMIM:619164
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Vomiting, Gastroesophageal reflux, Intestinal malr...	ORPHA:1199
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Aganglionic megacolon, Tachycardia, Flexion contracture,...	OMIM:613870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Rhabdoid Tumor	Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Lymphadenopathy, Anemia, Hypertension	ORPHA:69077
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Increased fecal bile acid, Fat malabsorption	OMIM:613291
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:620135
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Splenomegaly, Abnormal platelet morpholo...	ORPHA:3318
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Decreased activity of mitochondrial complex IV, Hypothermia	OMIM:616501
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Intestinal atresia, Duodenal atresia	ORPHA:3405
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Ascites, Hepatosplenomegaly, Pancytopenia, Hy...	ORPHA:98850
Ochoa Syndrome	Hypertension	ORPHA:2704
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Myotonia	OMIM:615491
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Alopecia Universalis	Hypertension	ORPHA:701
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Tachycardia, Hypertension, Hepatocellu...	OMIM:176000
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Abetalipoproteinemia	Hepatic fibrosis, Vomiting, Congestive heart failure, Acanthocytosis, Reticulocytosis, Hepatic st...	ORPHA:14
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly	ORPHA:28
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Wolman Disease	Adrenal calcification, Hepatomegaly, Vomiting, Splenomegaly	OMIM:620151
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop...	OMIM:619151
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago...	OMIM:301078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing ...	OMIM:304790
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Vomiting, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, A...	OMIM:617780
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Acute Transverse Myelitis	Upper limb muscle weakness, Priapism, Gastroparesis, Paralytic ileus, Subarachnoid hemorrhage, Di...	ORPHA:139417
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Joint contracture of the hand, Anteriorly placed anus, Intestinal m...	OMIM:305450
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M...	OMIM:614742
Riboflavin Deficiency	Hypothermia	OMIM:615026
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem...	OMIM:618886
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Gastroesophageal reflux, Xerostomia, Congestive heart failure, Telangiectasi...	ORPHA:220393
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Dysphagia, Cerebral hemorrhage, La...	ORPHA:136
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Juvenile Paget Disease	Hypertension	ORPHA:2801
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D...	OMIM:245400
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Koolen-De Vries Syndrome	Pulmonic stenosis, Hypotrophy of the small hand muscles, High palate, Narrow palate, Cleft palate...	OMIM:610443
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll...	OMIM:153670
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia, Inguinal hernia, Joint contracture	OMIM:614498
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Autosomal Recessive Cutis Laxa Type 1	Small bowel diverticula, Congestive heart failure, Supravalvular aortic stenosis, Abnormal cardia...	ORPHA:90349
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lipodystrophy, Familial Partial, Type 6	Hypertension	OMIM:615980
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, High, narrow palate, Camptodactyly of finger, Ankyloglossia, Bowel incontin...	ORPHA:261330
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h...	OMIM:278000
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pyloric stenosis	ORPHA:1001
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ...	OMIM:602390
Stiff Skin Syndrome	Hypertension	ORPHA:2833
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Immunodeficiency 7	Diarrhea, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrope...	OMIM:615387
Solitary Rectal Ulcer Syndrome	Hematochezia, Chronic constipation, Anemia, Intermittent diarrhea, Bloody diarrhea, Bloody mucoid...	ORPHA:209964
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Type I diabetes mellitus, Inflammation of th...	ORPHA:436159
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Ascites, Thrombocytopenia	ORPHA:2123
Diarrhea 9	Villous atrophy	OMIM:618168
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Stuve-Wiedemann Syndrome 1	Myotonia, Smooth tongue, Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial ...	OMIM:601559
Preeclampsia	Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension	ORPHA:275555
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Cleft palate, Pyloric stenosis	ORPHA:96169
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegaly, Lymphadenopathy, N...	OMIM:150550
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe...	OMIM:250790
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Zellweger Syndrome	High palate, Pyloric stenosis	ORPHA:912
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Decreased muscle mass, Elbow contracture, Hip contracture, ...	OMIM:617137
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Extracranial Carotid Artery Aneurysm	Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension	ORPHA:494424
Fetal Cytomegalovirus Syndrome	Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,...	OMIM:619463
Isolated Agammaglobulinemia	Diarrhea, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the...	ORPHA:229717
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ...	OMIM:615237
Fanconi Renotubular Syndrome 5	Hypertension	OMIM:618913
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Cutis Laxa, Autosomal Recessive, Type Iiib	Elbow flexion contracture, Flexion contracture, Pyloric stenosis	OMIM:614438
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly	OMIM:614480
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension	OMIM:615954
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly	ORPHA:77260
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Vomiting, Gastroesophageal reflux, Multiple joint co...	ORPHA:464306
Relapsing Fever	Epistaxis, Hypotension, Diarrhea, Vomiting, Leukopenia, Leukocytosis, Jaundice, Thrombocytopenia,...	ORPHA:91547
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Omenn Syndrome	Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop...	OMIM:603554
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis, Pulmonary arterial hypertension, Hypertension	OMIM:613834
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa mo...	ORPHA:1876
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Prolidase Deficiency	Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Diffuse telangie...	OMIM:170100
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Cardiomegaly	OMIM:618838
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Chronic Granulomatous Disease	Tracheoesophageal fistula, Pyloric stenosis	ORPHA:379
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre...	OMIM:240500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia	OMIM:612926
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Increased cir...	ORPHA:3392
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism	ORPHA:2668
Hyperaldosteronism, Familial, Type Iii	Hypertension	OMIM:613677
Tetrasomy 18P	Syncope, Achalasia	ORPHA:3307
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, D...	ORPHA:79083
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia	OMIM:619046
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre...	OMIM:607594
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukoc...	ORPHA:169105
Ectopic Aldosterone-Producing Tumor	Epistaxis, Hypertension	ORPHA:231632
Infant Botulism	Hypotension, Xerostomia, Constipation, Dysphagia, Cardiac arrest, Hypertension, Bowel incontinence	ORPHA:178478
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Diarrhea, Priapism, Congestive heart failure, Bundle branch ...	ORPHA:466677
C3 Glomerulopathy	Hypertension	ORPHA:329918
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Lymphopenia, Decreased circulating...	OMIM:616100
Anti-Glomerular Basement Membrane Disease	Anemia, Vasculitis	ORPHA:375
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Mediastinal ...	ORPHA:139411
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating antibody...	OMIM:618165
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia	OMIM:612924
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Stomatitis, Impa...	OMIM:308230
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Hypothyro...	ORPHA:39041
Idiopathic Camptocormia	Myotonia, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Fatty repl...	ORPHA:1320
Galactosemia Iii	Hepatomegaly, Jaundice, Vomiting, Splenomegaly	OMIM:230350
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Intractable diarrhea, Congenital pyloric atresia, Esophageal ...	OMIM:226730
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Ascites, Decreased circulating Ig...	OMIM:615758
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Myotonia, Shoulder flexion contracture, Skeletal muscle hypertrophy, Myo...	ORPHA:800
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Marshall-Smith Syndrome	Anteriorly placed anus, Premature ventricular contraction, Pulmonary arterial hypertension, High ...	OMIM:602535
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Postaxial Acrofacial Dysostosis	Pyloric stenosis, Cleft palate, Midgut malrotation	OMIM:263750
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Hypertension, Myocardial infarction	OMIM:208060
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction	OMIM:615812
Oslam Syndrome	Anemia	OMIM:165660
Eosinophilic Gastroenteritis	Hematochezia, Diarrhea, Vomiting, Ascites, Leukocytosis, Eosinophilia, Anemia, Dysphagia, Steator...	ORPHA:2070
Muckle-Wells Syndrome	Vasculitis, Recurrent aphthous stomatitis, Splenomegaly, Hepatomegaly, Delayed puberty, Anemia	ORPHA:575
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachyca...	ORPHA:98849
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anem...	ORPHA:54251
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Trans...	ORPHA:183
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension	ORPHA:231580
Ollier Disease	Anemia, Lymphangioma, Precocious puberty	ORPHA:296
Tetanus	Dysphagia, Bradycardia, Tachycardia, Hypertension, Bowel incontinence	ORPHA:3299
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Nephronophthisis 2	Pulmonary insufficiency, Hypertension	OMIM:602088
Hydatidiform Mole	Anemia, Hyperthyroidism	ORPHA:99927
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia	OMIM:612925
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Ménétrier Disease	Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Stomach cancer, Abnorma...	ORPHA:2494
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangi...	OMIM:606003
Cornelia De Lange Syndrome 1	High, narrow palate, Gastroesophageal reflux, Elbow flexion contracture, Congenital diaphragmatic...	OMIM:122470
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Aganglionic megacolon, Arrhythmia, Achalasia,...	ORPHA:3386
Jacobsen Syndrome	Aortic valve stenosis, Intestinal malrotation, Ectopic anus, Constipation, Abnormality of the anu...	ORPHA:2308
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Umbilical hernia	ORPHA:226313
Fabry Disease	Vomiting, Diarrhea, Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhyth...	OMIM:301500
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl...	OMIM:139090
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastina...	ORPHA:83469
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, High palate, Facial hypotonia	ORPHA:438216
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Poliomyelitis	Hypovolemic shock, Hypotension, Vomiting, Hypoplasia of the musculature, Skeletal muscle atrophy,...	ORPHA:2912
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso...	ORPHA:309108
Niemann-Pick Disease, Type A	Vomiting, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Constip...	OMIM:257200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Cleft soft palate, Chordee,...	ORPHA:268261
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:208000
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly...	ORPHA:2414
Familial Thyroid Dyshormonogenesis	Hypothermia, Umbilical hernia	ORPHA:95716
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Gastroesophageal reflux, Right ventricular hypertrophy, Rectal pro...	OMIM:613177
Nephronophthisis 1	Hypertension	OMIM:256100
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Pediatric-Onset Graves Disease	Diarrhea, Graves disease, Sinus tachycardia, Goiter, Puberty and gonadal disorders, Congestive he...	ORPHA:525731
Smith-Lemli-Opitz Syndrome	Bifid uvula, Vomiting, Gastroesophageal reflux, Microglossia, Hypertrophic cardiomyopathy, Intest...	OMIM:270400
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension, Esophageal varix	OMIM:215600
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology	OMIM:613502
1P36 Deletion Syndrome	Dilated cardiomyopathy, Gastroesophageal reflux, Camptodactyly of finger, Hypogonadism, Myopathy,...	ORPHA:1606
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Hypertension	OMIM:614034
Morgagni-Stewart-Morel Syndrome	Hypertension	ORPHA:77296
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Degcags Syndrome	Diaphragmatic eventration, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Protruding tongue,...	OMIM:619488
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Splenomegaly, Telangiectasia, Hypogonadotropic...	OMIM:235200
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Apert Syndrome	Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate, Pyloric stenosis	OMIM:101200
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased circulating cortisol level, Cardiomyopathy	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased circulating cortisol level, Hypertrophic cardiomyopathy	OMIM:618835
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stomatitis	OMIM:246400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Absence of lymph node germinal center, Panhypog...	ORPHA:79124
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l...	ORPHA:397596
Porphyria Variegata	Proximal muscle weakness in upper limbs, Ileus, Nausea, Constipation, Tachycardia, Hypertension, ...	ORPHA:79473
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Scleromyxedema	Gastroesophageal reflux, Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy...	ORPHA:167635
Fanconi Anemia, Complementation Group W	Duodenal atresia, Polysplenia	OMIM:617784
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Cholecys...	ORPHA:131
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension	ORPHA:363400
Lead Poisoning	Vomiting, Imbalanced hemoglobin synthesis, Increased circulating IgE level, Decreased circulating...	ORPHA:330015
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly, Atrial fibril...	OMIM:300842
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo...	OMIM:185070
Frasier Syndrome	Hypertension	ORPHA:347
Deafness-Vitiligo-Achalasia Syndrome	Achalasia, Skeletal muscle atrophy	ORPHA:3239
Osteogenesis Imperfecta, Type X	Pyloric stenosis	OMIM:613848
Propionic Acidemia	Vomiting, Cardiomyopathy, Pancytopenia, Hepatomegaly, Cerebellar hemorrhage, Constipation, Pancre...	OMIM:606054
Secondary Short Bowel Syndrome	Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo...	ORPHA:95427
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Vomiting, Bloody diarrhea, Gastrointestinal infarctions...	ORPHA:90068
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Constipation, Orthostatic hypotension, Tachycardia, ...	OMIM:223900
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic anemia, Panc...	OMIM:557000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropen...	OMIM:614700
Colonic Atresia	Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascularization, Increas...	OMIM:617388
Werner Syndrome	Gastrointestinal carcinoma, Secondary amenorrhea, Skeletal muscle atrophy, Congestive heart failu...	ORPHA:902
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Systemic Sclerosis	Intestinal bleeding, Telangiectasia, Dysphagia, Bowel incontinence, Gastroesophageal reflux, Righ...	ORPHA:90291
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hematemesis, Episodic vomiting, Anemia	ORPHA:71272
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st...	OMIM:607765
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Neutrophilic Dermatosis, Acute Febrile	Anemia, Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Skeletal muscle atrophy	ORPHA:2400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Elbow flexion contracture, Hypothermia, Hip contracture, Abnormality of temperature regula...	OMIM:618493
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Nephronophthisis 9	Anemia	OMIM:613824
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Acute colitis, Congestive heart failure, Leukocytosis, Intestinal ...	ORPHA:67
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Weakness of facial...	ORPHA:247691
Lipodystrophy, Familial Partial, Type 3	Hypertension	OMIM:604367
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
Aceruloplasminemia	Anemia, Diabetes mellitus	OMIM:604290
Marden-Walker Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:2461
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Caudal Regression Syndrome	Anal atresia, Hypertension, Bowel incontinence, Decreased muscle mass	ORPHA:3027
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic...	OMIM:615895
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia	OMIM:618882
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Median cleft palate, Knee flexion contracture, Cam...	OMIM:617402
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Hypertension, Dista...	ORPHA:206572
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Multiple Endocrine Neoplasia, Type Iia	Palpitations, Hypertension	OMIM:171400
Myoectodermal Gonadal Dysgenesis Syndrome	Anal atresia, Diastasis recti, Pyloric stenosis	OMIM:618419
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Gastrointest...	OMIM:600376
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Immunodeficiency 70	Colitis, Achalasia, Celiac disease	OMIM:618969
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Knobloch Syndrome 2	Chronic constipation, Pyloric stenosis	OMIM:618458
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Ethylene Glycol Poisoning	Hypotension, Vomiting, Congestive heart failure, Shock, Nausea, Gastritis, Prolonged QT interval,...	ORPHA:31826
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni...	ORPHA:157798
Drug-Induced Lupus Erythematosus	Anemia, Prolonged QTc interval, Thrombocytopenia, Pericarditis	ORPHA:231111
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia, Anemia, Diabetes mel...	OMIM:613845
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension, Dysphagia, Impotence, Bowel incontinence	ORPHA:93256
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, Abn...	ORPHA:292
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Azoospermia, Cerebral hemorrhage, Hypertension, Hypergonadotropic hypogon...	OMIM:300845
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Increased circulating IgA level,...	OMIM:615934
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho...	OMIM:615512
Distal Deletion 12Q	High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Elbow flexion contra...	ORPHA:96149
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Splenomegaly, Hepatomegaly, Hypothyroidism, M...	ORPHA:3452
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Arrhythmia, Constipation, Hepatom...	ORPHA:99745
Purine Nucleoside Phosphorylase Deficiency	Impaired T cell function, Cerebral vasculitis, Lymphopenia, Lymph node hypoplasia, Abnormality of...	OMIM:613179
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension	OMIM:219080
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Diarrhea, Splenomegaly	ORPHA:2930
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:615474
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroesophageal reflux, Ventricular bigeminy, Gastroparesis, Limb muscle weakness, Arrhythmia, C...	OMIM:610131
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s...	ORPHA:758
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, ...	ORPHA:520
Costello Syndrome	Hypertrophic cardiomyopathy, Arrhythmia, Achilles tendon contracture, Macroglossia, High palate, ...	OMIM:218040
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Pericardial effusion	OMIM:614702
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Pyloric stenosis	ORPHA:93111
Apparent Mineralocorticoid Excess	Hypertension	ORPHA:320
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration	OMIM:618372
Yunis-Varon Syndrome	High, narrow palate, Cardiomyopathy, Glossoptosis, Pulmonary arterial hypertension, Renovascular ...	ORPHA:3472
Monosomy 18P	Hypertension, Cleft palate	ORPHA:1598
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy	ORPHA:93476
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Vasculitis, Dilated cardiomyopathy, Lympho...	OMIM:615688
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Bifid uvula, Ischemic stroke, Congenital diaphragmat...	OMIM:208050
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus	OMIM:612526
Coach Syndrome 1	Hypertension, Portal hypertension, Esophageal varix	OMIM:216360
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic...	ORPHA:99147
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas	ORPHA:1305
Congenital Factor Ii Deficiency	Anemia, Epistaxis, Joint hemorrhage, Intracranial hemorrhage	ORPHA:325
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Vomiting, Diarrhea, Abnormal EKG, Hyperinsulinemia, Syncope, Orthostatic hyp...	ORPHA:230
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the l...	ORPHA:464329
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Microglossia, Congenital diaphragmatic hernia, Aganglionic megacolon, Bi...	ORPHA:818
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Leukemia, Pure r...	ORPHA:99867
Jacobsen Syndrome	Flexion contracture, Pyloric stenosis	OMIM:147791
Neuroblastoma, Susceptibility To, 1	Anemia, Abdominal mass, Diarrhea, Hypertension	OMIM:256700
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly	ORPHA:615
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Achalasia-Microcephaly Syndrome	Achalasia	ORPHA:929
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestina...	ORPHA:33226
Neuroblastoma	Elevated circulating catecholamine level, Abdominal mass, Lymphadenopathy, Thrombocytopenia, Anem...	ORPHA:635
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Lymphangi...	OMIM:602579
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Myocarditis, Hepatomegaly, Ge...	ORPHA:829
Syndromic Recessive X-Linked Ichthyosis	Hypogonadism, Abnormal stomach morphology	ORPHA:281090
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Serotonin Syndrome	Hypotension, Diarrhea, Rhabdomyolysis, Nausea, Tachycardia, Hypertension	ORPHA:43116
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Hypertension	OMIM:613320
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomegaly,...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Knobloch Syndrome	Pyloric stenosis	ORPHA:1571
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, ...	ORPHA:540
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Genetic Transient Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:226316
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop...	OMIM:600901
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Splenomegaly, Hepatomegaly, Constipation, Anemia,...	OMIM:239200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Diarrhea, Increased circulating IgE level, Lymphopenia, Decreased cir...	OMIM:102700
Al Amyloidosis	Macroglossia, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tac...	ORPHA:85443
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Meningococcal Meningitis	Fever, Hypothermia	ORPHA:33475
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Diarrhea, Pseud...	ORPHA:79276
Common Variable Immunodeficiency	Vasculitis, Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenome...	ORPHA:1572
Glycogen Storage Disease Ixb	Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T...	OMIM:617591
Livedoid Vasculopathy	Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Hypertension, Telangie...	ORPHA:542643
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Abnormal...	ORPHA:1830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hypertension, Portal hypertension, Hematemesis, Esophageal varix	OMIM:263200
Mirage Syndrome	Gastroesophageal reflux, Lymphopenia, Leukopenia, Adrenal insufficiency, Achalasia, Adrenal hypop...	OMIM:617053
Sepsis In Premature Infants	Hypotension, Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Bradycardia, Hepatomegaly, Jaundice,...	ORPHA:90051
Methylmalonic Aciduria, Cblb Type	Vomiting, Dilated cardiomyopathy, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension	ORPHA:402075
Ulnar-Mammary Syndrome	Anal stenosis, Elbow flexion contracture, Arrhythmia, Anal atresia, Pyloric stenosis	OMIM:181450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Menkes Disease	Hypothermia	OMIM:309400
Timothy Syndrome	Hypothermia	OMIM:601005
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia	OMIM:620504
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Intracranial hemorrhage, Anemia, Joi...	ORPHA:169802
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Bradycardia, Retinal hemorrhage, Tachycardia, High palate, Hypertension,...	OMIM:614653
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Jejunal atresia, Stillbirth, Duodenal atresia, Cleft pa...	OMIM:243605
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop...	OMIM:227650
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormality of the gastrointes...	ORPHA:91139
Osteopetrosis, Autosomal Recessive 9	Anemia, Hyperparathyroidism	OMIM:620366
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Gastroesophageal reflux, Hypertension	ORPHA:449291
Deafness, Congenital, With Vitiligo And Achalasia	Achalasia, Skeletal muscle atrophy	OMIM:221350
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph...	ORPHA:90362
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hennekam Syndrome	Camptodactyly of finger, Pyloric stenosis	ORPHA:2136
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contr...	ORPHA:70
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune ...	OMIM:620565
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Cornelia De Lange Syndrome	Gastroesophageal reflux, Volvulus, Intestinal malrotation, Congenital diaphragmatic hernia, Prima...	ORPHA:199
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vomiting, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Esophageal neoplas...	ORPHA:1018
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Intestinal pseudo-obstruc...	ORPHA:70595
Congenital Bile Acid Synthesis Defect Type 3	Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation	ORPHA:79302
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn...	ORPHA:398063
Developmental And Epileptic Encephalopathy 50	Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Viral hepati...	ORPHA:2137
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:269920
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Hypotension, Male hypogonadism, Impotence, Vomiting, Congestive heart fai...	ORPHA:91347
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Diarrhea, Hepatitis, Lymphopenia, Splenomegaly, Arrhyth...	ORPHA:549
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia, Umbilical hernia	ORPHA:90673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, D...	OMIM:251880
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Hepatitis, Hypertrophic cardiomyopathy, P...	OMIM:615846
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, High palate, Intracranial hem...	ORPHA:394
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Vomiting, Generalized muscle hypertrophy, Submucous cleft h...	OMIM:235730
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Congestive heart failure, Hypertrophic cardiomyopathy, Leukopenia, S...	OMIM:617303
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Familial Dysautonomia	Tachycardia, Gastroesophageal reflux, Hypertension, Orthostatic hypotension	ORPHA:1764
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H...	ORPHA:79319
Abcd Syndrome	Polycythemia	OMIM:600501
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Q Fever	Vasculitis, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis,...	ORPHA:781
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteriorly placed anus, Narrow palate, Hypertension, Cleft palate	ORPHA:1555
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infa...	ORPHA:544482
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ...	ORPHA:220460
Visceral Myopathy, Familial, With External Ophthalmoplegia	Gastroparesis, Spontaneous esophageal perforation	OMIM:277320
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal...	ORPHA:92050
Apert Syndrome	Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Hypertension, Cleft palate	ORPHA:87
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Abnormality of the liver, Intestinal obstruction, Constipation, Anem...	ORPHA:44890
Acquired Generalized Lipodystrophy	Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy	ORPHA:79086
Renal Hypoplasia	Hypertension	ORPHA:93101
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension	OMIM:610489
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Hypertension	OMIM:174000
Glycogen Storage Disease Ic	Inflammation of the large intestine, Spider hemangioma, Hepatoblastoma, Pulmonary arterial hypert...	OMIM:232240
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Carnitine-Acylcarnitine Translocase Deficiency	Decreased circulating carnitine concentration, Hypothermia	ORPHA:159
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Diarrhea, Portal inflammation, Portal fibrosis, Ascites, Splenomegaly, ...	OMIM:602347
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity	OMIM:617244
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
N-Acetylglutamate Synthase Deficiency	Hypothermia	OMIM:237310
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia	OMIM:277175
Malt Lymphoma	Abnormality of the thyroid gland, Constipation, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Hypothermia, Decrea...	ORPHA:17
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Intestinal obstruction, Hy...	ORPHA:900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regurgitation, Erythroid hypopl...	OMIM:612541
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Gastroparesis, Arrhythmia, Hypertension	OMIM:614052
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Gastroparesis, Limb musc...	OMIM:157640
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Hypothermia, Umbilical hernia	ORPHA:90674
Prader-Willi Syndrome	Vomiting, Xerostomia, Hypogonadism, Gastroparesis, Primary amenorrhea, Infertility, Hypertension	ORPHA:739
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Vomiting, Pulmonary embolism, Rhabdomyolysis, Nausea, Arrhythmi...	ORPHA:94093
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Budd-Chiari syndrome, Abnormal mesentery morphology, Portal hyperten...	ORPHA:284
Galloway-Mowat Syndrome 3	Hiatus hernia, High palate, Camptodactyly, Hypertension	OMIM:617729
Renal Agenesis	Hypertension	ORPHA:411709
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Cleft palate	OMIM:614424
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Dysphagia, Port...	ORPHA:3260
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Aplasia/Hyp...	ORPHA:1358
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Triple A Syndrome	Abnormal calf musculature morphology, Achalasia, Abnormality of the hypothenar eminence	ORPHA:869
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Cholestasis, Ascites, Neonatal death, Hepatomegaly, Thrombocytopenia,...	OMIM:608104
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis	OMIM:619365
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Dilated cardiomyopathy, Secretory diarrhea, Third degree atrioventricular blo...	OMIM:619573
Birk-Landau-Perez Syndrome	Hypertension	OMIM:617595
Glycogen Storage Disease Ia	Intermittent diarrhea, Hypertension, Decreased muscle mass, Hepatocellular carcinoma	OMIM:232200
Igg4-Related Retroperitoneal Fibrosis	Impotence, Budd-Chiari syndrome, Large vessel vasculitis, Constipation, Retrograde ejaculation, R...	ORPHA:49041
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis	OMIM:253250
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype...	ORPHA:465508
Wagro Syndrome	Hypertension	OMIM:612469
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis, Leukocytosis, Thrombocytosis, Anemia	ORPHA:1467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis	ORPHA:2241
Alport Syndrome 1, X-Linked	Hypertension	OMIM:301050
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Pituitary Adenoma 4, Acth-Secreting	Oligomenorrhea, Hypertension, Skeletal muscle atrophy	OMIM:219090
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly	OMIM:212140
Wolfram Syndrome	Male hypogonadism, Gastrointestinal hemorrhage, Cardiomyopathy, Hypogonadism, Abnormal mesentery ...	ORPHA:3463
Paternal Uniparental Disomy Of Chromosome 1	Hypertension	ORPHA:251004
Fanconi Anemia, Complementation Group B	Aplastic anemia, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, Duodenal atresia	OMIM:300514
Alg6-Cdg	Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice	ORPHA:79320
Adrenocortical Carcinoma	Palpitations, Hypertension	ORPHA:1501
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormality of the diaphragm	ORPHA:2357
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen...	OMIM:613990
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Alexander Disease	Hypotension, Constipation, Facial palsy, Dysphagia, High palate, Sudden cardiac death, Hypertensi...	ORPHA:58
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic...	OMIM:309801
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Palpitations, Neoplasm of...	ORPHA:892
Beta-Ketothiolase Deficiency	Vomiting, Hypotension, Diarrhea, Hypertension	ORPHA:134
Knobloch Syndrome 1	Pyloric stenosis	OMIM:267750
Alagille Syndrome	Telangiectasia of the skin, Hypertension	ORPHA:52
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Anemia, Nausea, Tachycardia	ORPHA:71273
Pituitary Apoplexy	Hypotension, Hypertension, Oligomenorrhea, Impotence, Hypergonadotropic hypogonadism	ORPHA:95613
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension	ORPHA:98808
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypothermia	ORPHA:26793
Interstitial Lung And Liver Disease	Hepatic fibrosis, Vomiting, Cholestasis, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Cirrhos...	OMIM:615486
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Pancreatic islet...	OMIM:276700
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Neoplasm of the pancreas, Hepatic hemangioma, Pancreatic cysts, H...	OMIM:193300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Vomiting, Secretory diarrhea, Hepatitis, Increased circulating IgE leve...	ORPHA:37042
Visceral Myopathy 1	Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn...	OMIM:155310
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Hepatomegaly, Me...	ORPHA:91138
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Celiac disease, Achalasia, Abnormal intestine morphology	OMIM:615952
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Contracture of the distal interphalangeal joint of the fingers, Cleft palate, Pyloric stenosis	ORPHA:83617
Lysinuric Protein Intolerance	Diarrhea, Vomiting, Hemophagocytosis, Leukopenia, Pulmonary hemorrhage, Splenomegaly, Hepatomegal...	OMIM:222700
Nephronophthisis 4	Anemia	OMIM:606966
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Dysphagia, Achalasia, Orthostatic hypotension, Esophageal stenosis	OMIM:615510
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Epistaxis, Inflammation of the large intestine, Diarrhea, Pulmonary venou...	ORPHA:79259
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Vomiting, Diarrhea, Splenomegaly, Hepatomegaly, Cirrhosis, Hepatocellular adeno...	ORPHA:79240
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Muscular dystrophy, Vomiting, Flexion contracture	ORPHA:158684
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Pulmonary arteria...	ORPHA:77261
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate	OMIM:619227
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Protruding tongue, Acute mega...	ORPHA:870
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly, Choreoathetosis	ORPHA:391428
Seckel Syndrome 10	Hypertension, Congestive heart failure	OMIM:617253
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Diarrhea, Subconjunctival hemorrhage, Vomiting, Shock, Palpitations, Naus...	ORPHA:340
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Angina pectoris, Macroglossia, Chronic diarrhea, Hyperte...	ORPHA:93473
Mowat-Wilson Syndrome	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Cleft hard...	ORPHA:2152
Bardet-Biedl Syndrome 1	High, narrow palate, Hypogonadism, Aganglionic megacolon, Left ventricular hypertrophy, High pala...	OMIM:209900
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Elevated circulating parathyroid hormone level, Cardiomyopathy, Leukocytosis,...	ORPHA:289157
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Dystonia-Deafness Syndrome 1	Achalasia, Dysphagia, Cleft palate, Pseudobulbar paralysis	OMIM:607371
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Ascites, Hepatosplenomeg...	ORPHA:84081
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platelet dense granules, Red...	OMIM:608233
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension	ORPHA:371428
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Vomiting, Chordee, Premature ovarian insufficiency, Esophageal ulceration	OMIM:176690
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta...	ORPHA:53035
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Dysphagia, Calcinosis, High palate, Hypertension	OMIM:617913
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Diarrhea, Parotitis, Cholestasis, Hepatosplenomegaly, Decreased circulating IgA...	OMIM:620376
Cockayne Syndrome Type 1	Male hypogonadism, Diarrhea, Hypertension, Foot joint contracture	ORPHA:90321
Fryns Syndrome	Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Anal atresi...	ORPHA:2059
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Anteriorly placed anus, High palate, Narrow palate, Hypertension	OMIM:123790
Posterior Urethral Valve	Hypertension	ORPHA:93110
Combined Oxidative Phosphorylation Deficiency 15	Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval	OMIM:614947
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Aganglionic megacolo...	ORPHA:261537
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypertension, Hepatocellular carcinoma	OMIM:232220
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H...	ORPHA:363618
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Pulmonary arterial hypertension, Hypertension, Cerebral ischemia	OMIM:242900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop...	OMIM:147060
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, High palate, Hypertension, Scapular winging	OMIM:616914
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia	ORPHA:436174
8P11.2 Deletion Syndrome	Hypogonadism, Splenomegaly, Hypogonadotropic hypogonadism, Spherocytosis, Hemolytic anemia, Abnor...	ORPHA:251066
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Gastroesophageal reflux, Abnormal hemoglobin, Constipation	ORPHA:847
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hypothermia, Hernia	ORPHA:565
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Distal amyotrophy, Gastro...	OMIM:603041
Aicardi-Goutieres Syndrome 9	Portal hypertension, Left ventricular hypertrophy, Hypertension, Increased blood pressure, Perica...	OMIM:619487
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat...	OMIM:607459
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Crimean-Congo Hemorrhagic Fever	Diarrhea, Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemor...	ORPHA:99827
Postinfectious Vasculitis	Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Raynaud phenomenon, Gastrointesti...	ORPHA:48435
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Proximal amyotrophy, Hypertension, Abnormal libido	ORPHA:189427
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia	ORPHA:103910
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec...	OMIM:612301
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Decreased fertility, Primary amenorrhea, Hypertension,...	ORPHA:90793
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Spondyloenchondrodysplasia	Vasculitis, Hypertension, Raynaud phenomenon	ORPHA:1855
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen...	OMIM:227646
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega...	OMIM:614162
Juvenile Polyposis Syndrome	Anemia, Hematochezia, Diarrhea	OMIM:174900
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hypotension, Diarrhea, Vomiting, Adrenal calcification, Ascites, Hepatosplenome...	ORPHA:275761
Multiple Endocrine Neoplasia Type 1	Impotence, Diarrhea, Gastroesophageal reflux, Decreased male libido, Shortened QT interval, Vomit...	ORPHA:652
Adult-Onset Autosomal Dominant Leukodystrophy	Flexion contracture, Temperature instability, Hypothermia	ORPHA:99027
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Gastrointestinal ...	ORPHA:774
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Pulmonary embolism	ORPHA:567546
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Hyphema, Aganglionic...	ORPHA:261552
Posterior Column Ataxia With Retinitis Pigmentosa	Joint contracture of the hand, Skeletal muscle atrophy, Flexion contracture of finger, Achalasia,...	OMIM:609033
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopen...	ORPHA:84064
Congenital Tracheal Stenosis	Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gast...	ORPHA:141127
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Palpitations, Splenomegaly, Angina pectoris, Arrhythmia, Pancreatitis, Low-output...	ORPHA:565612
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Duodenal ulcer	ORPHA:3217
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, High, narrow palate, Transient ischemic attack, Ischemic stroke, Subarachno...	ORPHA:91387
Pachydermoperiostosis	Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Elevated circulating growth hormone conc...	ORPHA:2796
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit...	OMIM:175500
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Sinus bradycar...	OMIM:619482
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia	OMIM:618775
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Gastroesophageal reflux, Quadriceps muscle weakness, Shoulder girdle musc...	ORPHA:254892
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Hypothermia	ORPHA:20
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Hypertension	OMIM:610965
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract	ORPHA:79327
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyper-Igd Syndrome	Diarrhea, Vomiting, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circ...	OMIM:260920
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Myhre Syndrome	Bifid uvula, Hypogonadism, Submucous cleft hard palate, Hypertension, Cleft palate, Skeletal musc...	ORPHA:2588
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Atrial septal defect, Patent foramen ovale, Exaggerated startle response	OMIM:620327
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Achalasia-Addisonianism-Alacrima Syndrome	Achalasia, Orthostatic hypotension	OMIM:231550
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Epistaxis, Mitral regurgitation, Hepatic arteriovenous malformation, Telangiectasia...	OMIM:175050
Alport Syndrome	Vomiting, Hypertension, Dysphagia	ORPHA:63
Kikuchi-Fujimoto Disease	Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, M...	ORPHA:50918
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Achalasia, Dysphagia	ORPHA:79107
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response	OMIM:268800
Branchiooculofacial Syndrome	Gastroesophageal reflux, Elbow flexion contracture, Facial palsy, Malrotation of colon, Cleft pal...	OMIM:113620
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Thyroid lymphangi...	OMIM:235255
Hardikar Syndrome	Vomiting, Intestinal malrotation, Cleft soft palate, Portal hypertension, Bilateral cleft palate,...	OMIM:301068
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Hypogonadism, Decreased serum testosterone concentration, Spl...	OMIM:201100
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Ineffective esophageal peristalsis, Decreased heart rate variability, Chro...	OMIM:209880
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension	OMIM:612780
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia	OMIM:618329
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph...	OMIM:300755
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi...	OMIM:614008
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Rat-Bite Fever	Vomiting, Diarrhea, Lymphadenitis, Parotitis, Abdominal aseptic abscess, Pancreatitis, Myocarditi...	ORPHA:31205
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Port...	ORPHA:309854
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas	ORPHA:935
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Au-Kline Syndrome	Bifid uvula, Gastroesophageal reflux, Constipation, Bifid tongue, High palate, Hypertension, Clef...	OMIM:616580
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Duodenal atresia	OMIM:617798
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Right ventr...	OMIM:616028
Oligomeganephronia	Hypertension	ORPHA:2260
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, HbH hemoglobin, Constipation, Hypochromic microcytic anemia, Reduced alp...	OMIM:301040
Fryns Syndrome	Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglionic megacolon, Esophageal atres...	OMIM:229850
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Telangiectasia, Pulmonary arterial hypertension, High palate,...	OMIM:234100
Achalasia, Familial Esophageal	Xerostomia, Achalasia	OMIM:200400
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Duodenal atresia	OMIM:603467
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension	OMIM:202010
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Hyp...	ORPHA:653
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Elbow flexion contracture, ...	ORPHA:95699
Brucellosis	Vomiting, Arteritis, Liver abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Transi...	ORPHA:1304
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Occipital Horn Syndrome	Atypical scarring of skin, Keloids, Inguinal hernia, Hypothermia, Hiatus hernia, Scarring, Femora...	ORPHA:198
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati...	OMIM:265380
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m...	ORPHA:167
Autosomal Dominant Polycystic Kidney Disease	Hypertension	ORPHA:730
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Alkaptonuria	Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Hypertens...	ORPHA:56
Generalized Glucocorticoid Resistance Syndrome	Infertility, Oligomenorrhea, Hypertension, Oligozoospermia	ORPHA:786
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ...	OMIM:613471
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Hepatic s...	OMIM:269700
Multicystic Dysplastic Kidney	Hypertension	ORPHA:1851
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Hepatitis, Panc...	OMIM:610199
Tbck-Related Intellectual Disability Syndrome	Hypothermia	ORPHA:488632
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegal...	ORPHA:1655
Dyskeratosis Congenita	Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Telangiectasia of the skin, Cirrhosis, T...	ORPHA:1775
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Tremor, Intention tremor, Cardiomyopathy	OMIM:105210
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis	OMIM:617100
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, Hepatoblastoma, Cho...	ORPHA:731
Familial Mediterranean Fever	Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease, Peritoniti...	OMIM:249100
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Diarrhea, Decreased circulating total IgG, Intractable diarrhe...	OMIM:619381
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy	OMIM:617713
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Macroglossia, Splenomegaly	OMIM:618440
Denys-Drash Syndrome	Hypertension	OMIM:194080
Young-Onset Parkinson Disease	Diarrhea, Male sexual dysfunction, Female sexual dysfunction, Gastroparesis, Constipation, Nausea	ORPHA:2828
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno...	ORPHA:567983
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothermia, Umbilical hernia	OMIM:218700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati...	ORPHA:171
Familial Mediterranean Fever	Vasculitis, Diarrhea, Ascites, Leukocytosis, Splenomegaly, Intestinal obstruction, Peritonitis, C...	ORPHA:342
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Papillorenal Syndrome	Hypertension	OMIM:120330
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Yunis-Varon Syndrome	Cardiomyopathy, Pulmonary arterial hypertension, Heart murmur, High palate, Pyloric stenosis	OMIM:216340
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Somatomammotropinoma	Impotence, Hypertrophic cardiomyopathy, Mitral regurgitation, Dysmenorrhea, Hypogonadotropic hypo...	ORPHA:314769
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Peritonitis, ...	ORPHA:32960
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Achalasia, Cleft palate	OMIM:600987
Bardet-Biedl Syndrome	Irregular menstruation, Inflammation of the large intestine, Skeletal muscle atrophy, Cardiomyopa...	ORPHA:110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Scalp-Ear-Nipple Syndrome	Hypertension	ORPHA:2036
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Arima Syndrome	Hypertension, Esophageal varix	OMIM:243910
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hypothermia	ORPHA:255210
Mosaic Variegated Aneuploidy Syndrome	Ascites, Stomach cancer, Intestinal polyposis, Acute lymphoblastic leukemia, Duodenal atresia, Cl...	ORPHA:1052
Alstrom Syndrome	Irregular menstruation, Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypergona...	OMIM:203800
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Dysphagia	ORPHA:289483
Microform Holoprosencephaly	Duodenal atresia, Cleft palate	ORPHA:280200
Orofaciodigital Syndrome I	Hamartoma of tongue, Ankyloglossia, Bifid tongue, High palate, Hypertension, Tongue nodules, Clef...	OMIM:311200
Orthostatic Hypotension 1	Intermittent hypothermia	OMIM:223360
Lipodystrophy, Familial Partial, Type 2	Hypertension	OMIM:151660
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegal...	ORPHA:79330
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e...	ORPHA:57777
Acromegaly	Impotence, Hypertrophic cardiomyopathy, Mitral regurgitation, Dysmenorrhea, Hypogonadotropic hypo...	ORPHA:963
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia, Umbilical hernia	ORPHA:226307
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Mucopolysaccharidosis Type 2, Severe Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Arrhythmia, Heart murmur, Flexion contract...	ORPHA:217085
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Abnormality of the thyroid gland, Portal...	ORPHA:186
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Con...	ORPHA:2538
Xq21 Microdeletion Syndrome	Hypertension	ORPHA:1435
Mosaic Variegated Aneuploidy Syndrome 1	Leukemia, Duodenal atresia, Cleft palate	OMIM:257300
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl...	ORPHA:3427
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Esophagitis, Intestinal obstruction, Zol...	ORPHA:913
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia	OMIM:300858
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Diarrhea, Secondary amenorrhea, Neoplasm of the stomach,...	ORPHA:99889
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Mucopolysaccharidosis Type 2, Attenuated Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Arrhythmia, Heart murmur, Flexion contract...	ORPHA:217093
Orofaciodigital Syndrome Type 1	Exocrine pancreatic insufficiency, Hamartoma of tongue, High palate, Hypertension, Tongue nodules...	ORPHA:2750
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypothermia	ORPHA:79282
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Torticollis, Ventricular septal defect	OMIM:617022
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Atypical Werner Syndrome	Aortic valve stenosis, Skeletal muscle atrophy, Congestive heart failure, Hypogonadism, Decreased...	ORPHA:79474
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Inflammation of the large intestine, Secondary amenorrhea, Female infertilit...	ORPHA:99413
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Exaggerated st...	OMIM:253800
Mosaic Monosomy X	High, narrow palate, Inflammation of the large intestine, Secondary amenorrhea, Female infertilit...	ORPHA:99228
Monosomy X	High, narrow palate, Inflammation of the large intestine, Secondary amenorrhea, Female infertilit...	ORPHA:99226
Turner Syndrome	High, narrow palate, Inflammation of the large intestine, Secondary amenorrhea, Female infertilit...	ORPHA:881
Cushing Disease	Secondary amenorrhea, Capillary fragility, Amenorrhea, Proximal amyotrophy, Oligomenorrhea, Abnor...	ORPHA:96253
Mgat2-Cdg	Gastroparesis, Arrhythmia, Gastroesophageal reflux, Reflex asystolic syncope	ORPHA:79329
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Juvenile Polyposis Syndrome	Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S...	ORPHA:2929
Microphthalmia, Syndromic 1	High, narrow palate, Joint contracture of the hand, Aganglionic megacolon, Anal atresia, Camptoda...	OMIM:309800
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Rectal fis...	OMIM:115470
Mucopolysaccharidosis Type 2	Contractures of the large joints, Cardiomyopathy, Flexion contracture of digit, Arrhythmia, Macro...	ORPHA:580
Pseudohypoparathyroidism Type 1A	Oligomenorrhea, Calcinosis, Prolonged QT interval, Hypertension, Hypergonadotropic hypogonadism	ORPHA:79443
Carney Complex	Abnormal sperm motility, Tongue nodules, Congestive heart failure, Esophageal neoplasm, Neoplasm ...	ORPHA:1359
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Hereditary Sensory And Autonomic Neuropathy Type 4	Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis, Corneal scarring, Hypo...	ORPHA:642
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia	OMIM:614114
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Neoplasm of the gallbladder, Bowel inc...	ORPHA:512
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Transient ischemic attack, Left ve...	ORPHA:740
Williams Syndrome	Mitral regurgitation, Myopathy, Rectal prolapse, Gastroesophageal reflux, Hypertrophic cardiomyop...	ORPHA:904
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormality of the liver, Splenomegaly, Pulmonary arterial h...	ORPHA:90340
Martin-Probst Syndrome	Telangiectasia, Chordee	OMIM:300519
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Congenital Disorder Of Glycosylation, Type Iim	High palate, Gastroesophageal reflux, Hypertension	OMIM:300896
Homozygous Familial Hypercholesterolemia	Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Heart murmur,...	ORPHA:391665
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Vomiting, Lower limb muscle weakness, Hypertension, Pulmonary arterial hypertension, Or...	OMIM:606721
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Telangiectasia of the skin, Achalasia	OMIM:616007
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Cockayne Syndrome A	Irregular menstruation, Hypogonadism, Hip contracture, Arrhythmia, Hypertension	OMIM:216400
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Opisthotonus, Hepatomegaly	OMIM:608013
Plasminogen Deficiency, Type I	Duodenal ulcer	OMIM:217090
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Thyroid ly...	OMIM:235510
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at...	OMIM:270100
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Bifid uvula, Hypertension, Congestive heart failure	OMIM:181270
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Apc-Related Attenuated Familial Adenomatous Polyposis	Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps,...	ORPHA:247806
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Jaundice, Nausea, Acute pancreatitis	OMIM:238600
Focal Dermal Hypoplasia	Gastroesophageal reflux, Duodenal atresia	ORPHA:2092
Immunodeficiency 77	Gastroparesis	OMIM:619223
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Camptodactyly, Hypertension, Cleft palate, Ge...	OMIM:139210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Hyperlipidemia, Hypothermia	ORPHA:293987
Duplication Of Urethra	Rectourethral fistula, Anorectal anomaly, Anal fistula, Chordee, Anal atresia	ORPHA:237
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Vomiting, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypertension...	OMIM:220111
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Adams-Oliver Syndrome 1	Aortic valve stenosis, Pulmonary arterial hypertension, Hypertension, Pulmonic stenosis	OMIM:100300
Miller-Dieker Lissencephaly Syndrome	Duodenal atresia, Cleft palate	OMIM:247200
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Hepat...	OMIM:608594
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Bifid uvula, Macroglossia, High palate, Hypertension	OMIM:266920
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Glucocorticoid Deficiency 2	Achalasia	OMIM:607398
Cockayne Syndrome	Gastroesophageal reflux, Congenital contracture, Skeletal muscle atrophy, Contractures of the lar...	ORPHA:191
Gardner Syndrome	Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla of Vater carcinoma, Duodenal p...	ORPHA:79665
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Intestinal malrotation...	ORPHA:567
Pierson Syndrome	Retinal hemorrhage, Hypertension	OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, High palate, Duodenal atresia	OMIM:616975
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology	ORPHA:2847
Renal Dysplasia	Hypertension	ORPHA:93108
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ...	OMIM:306400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy	OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Cranioectodermal Dysplasia 2	High palate, Hypertension, Left ventricular hypertrophy, Cleft palate	OMIM:613610
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
45,X/46,Xy Mixed Gonadal Dysgenesis	Azoospermia, Streak ovary, Chordee, Muscle hypertrophy of the lower extremities, Prolonged QT int...	ORPHA:1772
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Neurofibromatosis, Type I	Hypertension	OMIM:162200
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Duodenal atresia	ORPHA:464311
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcinoma...	ORPHA:733
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:308552
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Decreased serum...	ORPHA:77293
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:614921
Systemic Lupus Erythematosus	Hypertension, Raynaud phenomenon	ORPHA:536
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef...	OMIM:301043
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m...	ORPHA:51636
Sarcoidosis	Fever, Scarring, Hypothermia	ORPHA:797
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Williams-Beuren Syndrome	Colonic diverticula, Gastroesophageal reflux, Portal hypertension, Supravalvular aortic stenosis,...	OMIM:194050
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Chordee, Contractures of the large joints	ORPHA:96179
Fucosidosis	Hepatomegaly, Dystonia, Cardiomegaly, Splenomegaly	OMIM:230000
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle response	ORPHA:79255
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Duodenal atresia	ORPHA:468631
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Chops Syndrome	High, narrow palate, Gastroparesis, Gastroesophageal reflux, Constipation	OMIM:616368
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Chordee, Flexion contracture, Submucous cleft hard palate, Generalized limb muscle atrophy	OMIM:618891
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Lenz-Majewski Hyperostotic Dwarfism	Microglossia, Anteriorly placed anus, Elbow flexion contracture, Knee flexion contracture, Chorde...	OMIM:151050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gastroesophageal reflux, Shoulder flexion contracture, Elbow flexion contracture, Hip contracture...	OMIM:210710
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Cockayne Syndrome B	Arrhythmia, Hypertension	OMIM:133540
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Familial Adenomatous Polyposis 1	Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Adenomatous...	OMIM:175100
46,Xy Sex Reversal 6	Chordee	OMIM:613762
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Uterine prolapse	ORPHA:438213
Zygomycosis	Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Hepatitis, Ileitis, Gastritis, Ente...	ORPHA:73263
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Chordee, Constipation, Lower limb hypertonia	OMIM:616728
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Neurofibromatosis Type 1	Gastrointestinal stroma tumor, Rhabdomyosarcoma, Hypertension, Neoplasm of the gastrointestinal t...	ORPHA:636
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Anteriorly placed anus, Chordee, Primary amenorrhea, Camptodactyly...	OMIM:201750
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Partial atrioventricular canal defect, Exaggerated startle response	OMIM:620423
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Esophagitis, Achalasia	OMIM:615356
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Gastrointestinal stroma tumor, Pulmonary arterial ...	ORPHA:97685
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Genitourinary And/Or Brain Malformation Syndrome	Chordee, Streak ovary, Ileal atresia, Jejunal atresia	OMIM:618820
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Adenomatous colo...	ORPHA:261584
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Mucopolysaccharidosis Type 3	Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A...	ORPHA:581
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular...	ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypogonadotropic hypogonadism, Gastroparesis, Infertility, Primary amenorrhea	ORPHA:98754
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:252500
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypogonadotropic hypogonadism, Gastroparesis, Infertility, Primary amenorrhea	ORPHA:98793
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Bowel incontinence	OMIM:618877
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypogonadotropic hypogonadism, Gastroparesis, Infertility, Primary amenorrhea	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypogonadotropic hypogonadism, Gastroparesis, Infertility, Primary amenorrhea	ORPHA:177901
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Aplasia of the right hemidiaphragm, Ankyloglossia, Chordee, Limb hypertonia, Episodic ...	OMIM:619841
Hand-Foot-Genital Syndrome	Chordee, Small thenar eminence	OMIM:140000
Diarrhea 10, Protein-Losing Enteropathy Type	Ascites, Protein-losing enteropathy, Hematochezia	OMIM:618183
Hypomagnesemia 3, Renal	Vomiting, Hypertension	OMIM:248250
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Spondyloocular Syndrome	Duodenal ulcer	OMIM:605822
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Dystonia, Patent foramen ovale	OMIM:620371
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Gastrointestinal infarctions, Transient ischemic attack, Abnormal intestine ...	ORPHA:286
Ogden Syndrome	Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic...	OMIM:300855
Generalized Arterial Calcification Of Infancy	Vomiting, Transient ischemic attack, Left ventricular systolic dysfunction, Myocardial calcificat...	ORPHA:51608
Osteoglophonic Dysplasia	Chordee, Camptodactyly of finger, High palate	OMIM:166250
Diets-Jongmans Syndrome	Duodenal atresia	OMIM:618846
Hypoplasminogenemia	Duodenal ulcer	ORPHA:722
Charge Syndrome	Anal stenosis, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tracheoesophageal fistula, Esophage...	OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Hypertension, Corneal neovascularization, Cleft palate	OMIM:308205
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Tremor, Cardiomegaly, Dystonia	ORPHA:51
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Tracheoesophageal fistula, Rectoperineal fistula, Anal at...	OMIM:107480
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft p...	ORPHA:2886
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In...	OMIM:619991
Coffin-Siris Syndrome 1	Intestinal malrotation, High palate, Duodenal ulcer, Gastric ulcer, Cleft palate, Intussusception	OMIM:135900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:365
Cardiospondylocarpofacial Syndrome	Gastroparesis, Congenital diaphragmatic hernia, Gastroesophageal reflux, Mitral regurgitation	OMIM:157800
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Chordee, Constipation, Dysphagia	OMIM:620455
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:130650
Alström Syndrome	Irregular menstruation, Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure...	ORPHA:64
46,Xy Ovotesticular Difference Of Sex Development	Chordee	ORPHA:325345
Fraser Syndrome 1	Abnormal thymus morphology, Abnormal small intestine morphology, Abnormality of the anus, Cleft p...	OMIM:219000
Plague	Inflammation of the large intestine, Lymphadenitis, Splenomegaly, Ileitis, Enterocolitis, Hematem...	ORPHA:707
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Chordee, Lower limb hypertonia	ORPHA:477993
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Gastroesophageal reflux, Gastroparesis, Transient ischemic attack, Ischemic stroke, ...	ORPHA:500150
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, High palate, Cleft palate	OMIM:601776
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki...	ORPHA:116
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:256040
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Chordee, Dysphagia, High palate	OMIM:619522
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Aortic Aneurysm, Familial Thoracic 8		OMIM:615436

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 Prkg1

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 Prkg1.

No publications found that use IMPC mice or data for Prkg1.

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

MGI Allele	Allele Type	Produced
Prkg1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Prkg1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prkg1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Prkg1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prkg1 MGI:108174

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Echo

X-ray

X-ray

MicroCT E18.5

Embryo LacZ

Adult LacZ

Human diseases caused by Prkg1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data