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Gene: Trex1 MGI:1328317

Gene Summary

Name:

three prime repair exonuclease 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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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	Not available
Blood vessel	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	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
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	100% (2 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 tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

14 Images

View images

Legacy Phenotype Associated Images

Trex1^{tm1(KOMP)Wtsi}
body, HET, Female, WTSI

Trex1^{tm1(KOMP)Wtsi}
head, HET, Female, WTSI

Trex1^{tm1(KOMP)Wtsi}
forearm, HET, Female, WTSI

Trex1^{tm1(KOMP)Wtsi}
body, HET, Female, WTSI

View all 103 images

Trex1^{tm1(KOMP)Wtsi}
back skin, HET, Female, WTSI

Trex1^{tm1(KOMP)Wtsi}
eye, corneal opacity, fused cornea and lens, HET, Female, WTSI

Human diseases caused by Trex1 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 Trex1 (7 diseases)
Human diseases predicted to be associated with Trex1 (2076 diseases)

The table below shows human diseases associated to Trex1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains, Skin ulcer	OMIM:610448
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp...	OMIM:225750
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, Antinucle...	ORPHA:536
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Cardiomegaly, Raynaud phenomenon...	ORPHA:51
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regene...	ORPHA:247691
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315

The table below shows human diseases predicted to be associated to Trex1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy...	OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains, Skin ulcer	OMIM:610448
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu...	OMIM:613779
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration	OMIM:620322
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ...	ORPHA:206569
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p...	OMIM:616576
Complement Component 4A Deficiency	Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos...	OMIM:614380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu...	ORPHA:69126
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Myositis	Myositis	OMIM:160750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Pediatric Systemic Lupus Erythematosus	Myositis, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nephr...	ORPHA:93552
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re...	OMIM:610163
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid...	OMIM:613496
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Autoimmune antibody...	ORPHA:3386
Chilblain Lupus 2	Chilblains	OMIM:614415
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Idiopathic Pulmonary Hemosiderosis	Rheumatoid factor positive, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Iron defic...	ORPHA:99931
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto...	ORPHA:436159
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin...	OMIM:619079
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr...	ORPHA:139402
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Abnormality...	ORPHA:781
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr...	ORPHA:37748
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep...	ORPHA:37042
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr...	OMIM:618495
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema...	OMIM:609939
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid fa...	OMIM:615934
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan...	ORPHA:91139
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Skin ulcer	ORPHA:2337
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo...	ORPHA:449395
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Autoimmunity, Pruritus, My...	ORPHA:81
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Abnormal heart valve morphology, Abnormality of the kidney,...	ORPHA:464343
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,...	ORPHA:90291
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Ground-...	OMIM:619773
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of...	ORPHA:98813
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Legionnaires Disease	Abnormal lung morphology, Cough, Infectious encephalitis, Recurrent pharyngitis, Hepatitis, Respi...	ORPHA:549
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp...	ORPHA:83317
Thymoma	Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ...	ORPHA:99867
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g...	ORPHA:85450
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa...	ORPHA:2137
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical ...	ORPHA:83313
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Ly...	ORPHA:36412
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node...	ORPHA:277
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Focal Myositis	Myositis	ORPHA:48918
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h...	ORPHA:3287
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Respiratory insuffici...	ORPHA:375
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthr...	OMIM:616414
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility...	ORPHA:244
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Chronic diarrhea, Olig...	OMIM:142680
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Chronic diarr...	OMIM:304790
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab...	ORPHA:90159
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ...	OMIM:618048
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla...	ORPHA:3099
Epidermolytic Hyperkeratosis 1	Scaling skin, Erythroderma	OMIM:113800
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Polymyositis	Myocardial infarction, Gastroesophageal reflux, Cough, Hepatomegaly, Dilated cardiomyopathy, Vasc...	ORPHA:732
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B...	OMIM:607594
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl...	OMIM:251000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomy...	ORPHA:79312
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Abnormal pulmonary thoracic imaging findin...	ORPHA:289390
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira...	ORPHA:444463
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ...	ORPHA:79099
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Increa...	ORPHA:1304
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card...	OMIM:602390
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:608709
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis	ORPHA:160148
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Dysphagia	ORPHA:2724
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Autoimmunity, Crackles, Nonproductive cough, Leukocy...	ORPHA:2902
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Vomiting, Infectious encephalitis, Nausea, Hepatitis, Hypotension...	ORPHA:36234
Immunodeficiency 53	Recurrent otitis media, Recurrent urinary tract infections, Recurrent pneumonia, Skin rash	OMIM:617585
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr...	OMIM:240500
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Abnormality of the t...	ORPHA:400
Complement Component 2 Deficiency	Purpura, Systemic lupus erythematosus	OMIM:217000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T...	OMIM:620233
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art...	ORPHA:575
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri...	ORPHA:79126
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port...	OMIM:615688
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Glo...	ORPHA:91138
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Skin...	ORPHA:727
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Hypotension, Arrhythmia, Panc...	ORPHA:188
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Protracted diarrhe...	ORPHA:169160
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Antinuclear antibody positivity, Autoimmune antibody positivi...	ORPHA:231111
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Cherry re...	ORPHA:796
Lead Poisoning	Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libido, Nausea...	ORPHA:330015
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hepat...	OMIM:203800
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk...	ORPHA:292
Eosinophilic Fasciitis	Arthritis, Fasciitis, Muscular edema, Myositis	ORPHA:3165
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode...	OMIM:614328
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Bundle branch block, ...	ORPHA:93672
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Endocardial fibrosis, Myeloproliferative diso...	OMIM:607685
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level	OMIM:300988
Myasthenia Gravis	Myositis, Raynaud phenomenon, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specif...	ORPHA:589
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo...	ORPHA:99845
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:614582
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,...	OMIM:243700
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4...	ORPHA:449400
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Babesiosis	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Myocardial infarction, Splenomegaly, Congest...	ORPHA:108
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Netherton Syndrome	Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Allergic rhinitis, E...	OMIM:256500
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne...	ORPHA:39812
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Splenom...	ORPHA:3452
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Cardiac shunt	OMIM:305800
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Recurrent pharyngitis, Leukocytosis, Vasc...	ORPHA:32960
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ...	OMIM:231530
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome...	OMIM:618348
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri...	ORPHA:100093
Aquagenic Palmoplantar Keratoderma	Palmar pruritus, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Syst...	ORPHA:498359
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, Vomit...	OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Flexion contracture, Panniculitis	OMIM:619183
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hepatic steatosis, Glomerulopathy, Dysmenorrhea, Splenomegaly, Congestive heart fai...	ORPHA:2348
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Vasc...	ORPHA:342
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo...	ORPHA:163525
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, High palate, Glomerulonephritis	ORPHA:2172
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st...	ORPHA:900
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ...	OMIM:618394
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Ectopic kidney, Sparse eye...	ORPHA:634
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Cryoglobulinem...	ORPHA:33226
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ...	OMIM:613179
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Ventricular septal defect, Recurrent...	OMIM:620210
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce...	ORPHA:3243
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Chronic diarr...	OMIM:617099
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, ...	OMIM:617638
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Increased circulating IgE level, Nail dystrophy, Erythroderma	OMIM:270300
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Pityriasis Rubra Pilaris	Pustule, Pruritus, Eczema, Erythroderma	ORPHA:2897
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Vascul...	OMIM:617718
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Abnormal nasopharyngeal adenoi...	ORPHA:3392
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Pulmona...	ORPHA:70578
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome	ORPHA:2575
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Dysmenorrhea, Splenomegaly, Congestive heart failure, Prominent ...	ORPHA:79083
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Chronic diarr...	OMIM:618805
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, ...	OMIM:201475
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Aut...	OMIM:614470
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep...	OMIM:618999
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ab...	ORPHA:50918
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Nephr...	OMIM:269920
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ...	ORPHA:346
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Chondritis, Glomerulopa...	ORPHA:728
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Inc...	OMIM:617591
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large vessel vasculitis,...	ORPHA:49041
Systemic Lupus Erythematosus 17	Hypertensive crisis, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antib...	OMIM:301080
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Hypo...	OMIM:616629
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recu...	OMIM:616005
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am...	OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Kawasaki Disease	Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, H...	ORPHA:2331
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis...	OMIM:609057
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Postinfectious Vasculitis	Rheumatoid factor positive, Gastrointestinal inflammation, Unusual gastrointestinal infection, Ba...	ORPHA:48435
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency...	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Immunodeficiency 61	Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob...	OMIM:300310
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp...	OMIM:225750
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Vomiting, Neutropen...	ORPHA:73263
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, Antinucle...	ORPHA:536
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Complement Component 5 Deficiency	Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple...	OMIM:609536
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Whim Syndrome	Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit...	ORPHA:51636
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ...	ORPHA:3260
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa...	OMIM:613502
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Dry skin	ORPHA:454
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Shigellosis	Acute colitis, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Rhab...	ORPHA:810
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, Pyloric stenosis...	OMIM:615577
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs	ORPHA:3327
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal de...	OMIM:617303
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos...	OMIM:615846
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Anti-dsDNA antibody positivity, Hypothyroi...	ORPHA:1855
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media	OMIM:312863
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Vomiting, Abnormality of the urinary system phys...	ORPHA:2552
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev...	ORPHA:48377
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Abnormal hair morphology	ORPHA:222
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Erythroderma	ORPHA:312
Immunodeficiency 22	Pericarditis, Autoimmunity, Diarrhea, Protracted diarrhea, Capillary leak, Decreased circulating ...	OMIM:615758
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level	OMIM:162700
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,...	ORPHA:391487
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Decreased lymphocy...	OMIM:606367
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome...	ORPHA:228308
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, C...	ORPHA:397
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R...	ORPHA:275
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Situs inversus totalis, Asplenia, Atelectasis, Bronchiectasis, Immot...	OMIM:244400
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:617765
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recur...	OMIM:618282
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decrea...	OMIM:619126
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe...	OMIM:615872
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, ...	OMIM:619487
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Apnea, Thrombocyto...	OMIM:606054
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
Listeriosis	Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephalitis, Unusual sk...	ORPHA:533
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Abno...	ORPHA:2357
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Cach Syndrome	Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Hepatosplenomegaly, Prim...	ORPHA:135
Yao Syndrome	Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea,...	OMIM:617321
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Renal tubular dysfunct...	ORPHA:289916
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis,...	ORPHA:319213
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope...	ORPHA:99827
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Omenn Syndrome	Alopecia, Pneumonia, Autoimmunity, Pruritus, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, E...	ORPHA:39041
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Hypertension, Coronary artery atherosclerosis, Pancreatitis	ORPHA:79084
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Juvenile Arthritis	Antinuclear antibody positivity, Skin rash	OMIM:618795
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Dyspnea, Vacuo...	ORPHA:565612
Bullous Pemphigoid	Erythema, Psoriasiform dermatitis, Eczema, Autoimmunity	ORPHA:703
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch...	ORPHA:860
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Linear Iga Dermatosis	Renal neoplasm, Autoimmunity, Epistaxis, Pruritus, Inflammation of the large intestine	ORPHA:46488
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin	OMIM:146700
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Blo...	ORPHA:90068
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ...	OMIM:614376
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:613657
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p...	OMIM:619705
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Pruritus, Antinuclear antibody positivity, Ant...	ORPHA:562639
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Iridocyclitis, Diarrhea, C...	OMIM:240300
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Colchicine Poisoning	Renal insufficiency, Alopecia, Myocarditis, Diarrhea, Congestive heart failure, Hypovolemia, Olig...	ORPHA:31824
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ...	ORPHA:1320
Endocardial Fibroelastosis	Hypoplasia of penis, Congestive heart failure, Cryptorchidism, Endocardial fibroelastosis, Restri...	ORPHA:2022
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula...	ORPHA:26791
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulati...	OMIM:619048
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death	ORPHA:764
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di...	OMIM:615767
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Bronchiectasis, Hepatiti...	OMIM:619381
Congenital Ichthyosiform Erythroderma	Keratitis, Alopecia, Pruritus, Erythroderma	ORPHA:79394
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Ichthyosis Prematurity Syndrome	Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma	OMIM:608649
Syndromic Diarrhea	Aortic regurgitation, Atrial septal defect, Villous atrophy, Brittle hair, Gastritis, Hepatoblast...	ORPHA:84064
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ...	ORPHA:494424
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Pediatric-Onset Graves Disease	Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, I...	ORPHA:525731
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Tubuloint...	ORPHA:358
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti...	OMIM:612692
Ichthyosis Hystrix Of Curth-Macklin	Flexion contracture, Recurrent skin infections, Nail dystrophy	ORPHA:79503
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera...	ORPHA:330058
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Dilated cardiom...	OMIM:615895
Sézary Syndrome	Skeletal muscle atrophy, Alopecia, Abnormal immunoglobulin level, Pruritus, Nail dystrophy, Eryth...	ORPHA:3162
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar...	ORPHA:544482
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri...	ORPHA:71212
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Vasculitis	ORPHA:90026
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Pulmonary infiltrates, Histiocytosis	OMIM:235900
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Lymphatic Filariasis	Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough...	ORPHA:2035
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough...	ORPHA:454836
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st...	OMIM:614480
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v...	ORPHA:459061
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Atelectasis...	ORPHA:70588
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Chronic constipation, Nephrot...	OMIM:619428
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ulcer, Lupus anticoa...	OMIM:616744
Hyperkeratosis Lenticularis Perstans	Pruritus, Skin ulcer	ORPHA:409
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot...	OMIM:105200
Farber Disease	Respiratory distress, Elevated hepatic transaminase, CNS foam cells, Intrahepatic cholestasis wit...	ORPHA:333
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Facial palsy, Atrial f...	ORPHA:31826
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane...	OMIM:615285
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo...	ORPHA:398124
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Lamellar Ichthyosis	Renal insufficiency, Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Aplasia/Hypoplasi...	ORPHA:313
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Con...	ORPHA:90033
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentratio...	ORPHA:178320
Stevens-Johnson Syndrome	Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret...	ORPHA:36426
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl...	ORPHA:87503
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Classic Mycosis Fungoides	Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Dry skin	ORPHA:2584
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Abnormal lung morphology, Recurrent pneumonia, Tachypn...	ORPHA:60032
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Male infertility, ...	OMIM:219700
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Hypertension, ...	OMIM:616069
Alopecia Areata 1	Autoimmunity	OMIM:104000
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten...	ORPHA:33001
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Eczema, Porphyrinuria	OMIM:176090
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Nephritis	OMIM:274240
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constip...	ORPHA:225
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na...	ORPHA:540
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Ulerythema Ophryogenesis	Dry skin, Acne, Contact dermatitis, Facial erythema	ORPHA:3406
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In...	ORPHA:2314
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Hepatomegaly, Hepatic steatosis, Abnormal atrioventricular conductio...	ORPHA:280365
Marburg Hemorrhagic Fever	Nonproductive cough, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpholo...	ORPHA:99826
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Testicular atrophy, Portal hyper...	ORPHA:465508
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di...	OMIM:619281
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Respiratory insufficiency, Dysphagia	OMIM:618230
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu...	ORPHA:132
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneu...	ORPHA:353298
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Ichthyosis With Confetti	Pruritus, Hypoplastic nipples, Hypertrichosis, Erythroderma	OMIM:609165
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr...	ORPHA:258
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasis, Macroglossi...	OMIM:618523
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Erythroderma, Sparse hair	OMIM:242300
Pseudo-Torch Syndrome 3	Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory i...	OMIM:618886
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Skin rash	OMIM:124950
Congenital Gerbode Defect	Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog...	ORPHA:99095
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla...	OMIM:617595
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Myocarditis, Py...	ORPHA:3342
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe...	ORPHA:319218
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu...	OMIM:613490
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abnormal peri...	ORPHA:67
Dermatomyositis	Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocardial infarc...	ORPHA:221
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
Dermatitis Herpetiformis	Eczema, Autoimmunity, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My...	ORPHA:892
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt...	OMIM:601457
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Aspergillosis	Sinusitis, Intracranial hemorrhage, Diffuse reticular or finely nodular infiltrations, Cough, Neu...	ORPHA:1163
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczema, Systemic lupus erythematosus	OMIM:616871
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Leukopenia, Conjunctivitis, Atrial septal defect, Decreased circulating IgG...	ORPHA:505248
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,...	ORPHA:158061
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, N...	OMIM:615952
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive	OMIM:230350
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr...	OMIM:212140
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti...	OMIM:619752
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Cholangitis, Increased circulating IgG4 level, Eosinophilia, R...	ORPHA:449432
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Conges...	ORPHA:1194
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe...	OMIM:608600
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr...	ORPHA:1329
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent skin infections, Decreased circulating antibody level, Atrial se...	OMIM:617744
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis	OMIM:620137
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Bowel incont...	ORPHA:330001
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, C...	OMIM:242700
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, H...	OMIM:121300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Autoimmune hemolytic anemia, Abno...	OMIM:619573
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Smoo...	ORPHA:64743
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Hypertension, Azoospermia, Infe...	OMIM:615703
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m...	OMIM:607616
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t...	ORPHA:324964
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Wrist flexion contracture, Constrictive pericarditis, Congenital finger flexion contra...	OMIM:208250
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Congestive heart failure, Dysphagia, Pulmonary arterial hypertensio...	OMIM:619751
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand, Pruritis on b...	ORPHA:64745
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous candidiasi...	OMIM:147060
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Anti-acetylcholine receptor antibody positivity, Right bundle branch block, Pulmonar...	ORPHA:254361
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myop...	OMIM:610717
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno...	OMIM:615387
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Stage 5 chronic kidney disease, R...	OMIM:222700
Congenital Myopathy 8	Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly	OMIM:618654
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Alport Syndrome	Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos...	ORPHA:63
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Whim Syndrome 1	Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu...	OMIM:620010
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly,...	ORPHA:79301
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Congestiv...	ORPHA:367
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil coun...	ORPHA:3226
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Oligosaccharidur...	ORPHA:365
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Atopic dermatitis, Pulmonic stenosis, Camptodactyly,...	OMIM:614262
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Al Amyloidosis	Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Hepatomegaly, Abn...	ORPHA:85443
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Decreased circulating total Ig...	OMIM:619774
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Malar rash, Gastroesophageal reflux	OMIM:618097
Absence Of The Pulmonary Artery	Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N...	ORPHA:980
Brachydactylous Dwarfism, Mseleni Type	Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth...	ORPHA:2619
Chylous Ascites	Ascites, Pancreatitis	ORPHA:1160
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Renal insufficiency, Recurrent respiratory inf...	ORPHA:537
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Hypopla...	OMIM:613177
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Osteoarthritis, Hype...	ORPHA:77259
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy...	ORPHA:49827
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:309900
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Pallor	ORPHA:90036
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy, Abnormality of...	ORPHA:391457
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Immunodeficiency 81	Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki...	OMIM:619374
Buerger Disease	Vasculitis, Hyperhidrosis	ORPHA:36258
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Chronic diarrhea, Flexion con...	OMIM:601675
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Eczema	ORPHA:3055
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver dise...	ORPHA:65682
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Supraventricula...	OMIM:255100
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody...	OMIM:614069
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest...	ORPHA:20
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Nail dystrophy, Erythroderma, Sparse hair	ORPHA:100976
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri...	ORPHA:57777
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ...	OMIM:608068
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Erythroderma	OMIM:604777
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Ga...	ORPHA:70472
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Mulibrey Nanism	Hepatomegaly, Nephroblastoma, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Perica...	OMIM:253250
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar...	OMIM:249100
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop...	ORPHA:538
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Anti...	ORPHA:449563
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplant...	ORPHA:247353
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir...	OMIM:256040
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Ab...	ORPHA:79086
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Myocardial infarction, Methioninuria, Mitral valve prolapse, Stroke, Homocysti...	OMIM:236200
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa...	OMIM:127550
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Cardiomegaly, Raynaud phenomenon...	ORPHA:51
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Lef...	ORPHA:75249
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Autoimmunity, De...	ORPHA:83471
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch...	OMIM:613807
Inclusion Body Myositis	Autoimmunity, Elevated circulating creatine kinase concentration	ORPHA:611
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:613752
Diffuse Alveolar Hemorrhage	Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s...	ORPHA:90060
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczema, Facial myokymia	OMIM:620007
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Cednik Syndrome	Proteinuria, Congestive heart failure, Nephrotic syndrome, Hypogonadism, Stroke	ORPHA:66631
Mahvash Disease	Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia	OMIM:619290
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increase...	ORPHA:2298
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Re...	ORPHA:90340
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Cardiac conduction abnormality, ...	ORPHA:466677
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Seborrheic dermatitis, Uveitis, Ab...	ORPHA:488618
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular functi...	ORPHA:70591
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Vasculitis, Skin rash	OMIM:601979
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, A...	ORPHA:858
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Scaling skin, Erythroderma	OMIM:612281
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90158
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc...	ORPHA:508542
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Congestive heart fail...	ORPHA:220393
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-...	OMIM:233450
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi...	ORPHA:79128
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca...	OMIM:230500
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Peeling Skin Syndrome 6	Pruritus, Scaling skin, Dry skin, Atopic dermatitis	OMIM:618084
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Localized Scleroderma	Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Abnormality o...	ORPHA:90289
Mucolipidosis Type Iii	Abnormal heart valve morphology, Acne, Cleft palate, Abnormal aortic valve morphology	ORPHA:577
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Myopathy, Myofibrillar, 2	Antinuclear antibody positivity, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeleta...	OMIM:608810
Digeorge Syndrome	Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal ...	OMIM:188400
Methylmalonic Acidemia With Homocystinuria	Skin rash	ORPHA:26
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent...	OMIM:540000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen...	OMIM:616050
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Cryptorchidism, Abnormality of the lymphatic system, Pulmonic stenosis, ...	ORPHA:638
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Impaired T ...	OMIM:614576
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Paraproteinemia, Di...	ORPHA:171442
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa...	OMIM:232500
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Hyperthyroidism, Macroorchidism...	ORPHA:562
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia	OMIM:606069
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona...	OMIM:214900
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,...	ORPHA:488627
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eczema, Eosinophilia, Sple...	OMIM:616651
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Acral Peeling Skin Syndrome	Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin	ORPHA:263534
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va...	ORPHA:1467
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent...	OMIM:252920
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Myopathy, Decreased circulating complement C3 concentr...	ORPHA:79087
Coffin-Siris Syndrome 8	Sparse scalp hair, Eczema, Long eyelashes, Thick eyebrow, Hypertrichosis	OMIM:618362
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Harlequin Ichthyosis	Sudden cardiac death, Erythroderma	ORPHA:457
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ...	OMIM:614868
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic ste...	ORPHA:79259
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypothyroidis...	ORPHA:90065
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Pellagra-Like Syndrome	Skin rash	OMIM:260650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level, Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:167100
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi...	OMIM:180300
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit...	ORPHA:47
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple...	ORPHA:77260
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Organic aciduria, Hepatomegaly	ORPHA:35
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine,...	ORPHA:26792
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Abnormal EKG, Hepatomegaly, Hepatosplenomegaly, Lym...	ORPHA:3385
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Eczema, Autoimmunity, Recurrent pneumonia, Decreased circulating antibody level, Vomiting, Septic...	OMIM:617780
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Pruritus, Diarrhea, Vomiting, Hypotension, Erythroderma	ORPHA:79456
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Left ventricular ...	OMIM:242840
Reticular Dysgenesis	Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Chronic otitis media	ORPHA:33355
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Vomiting, Cough, Abnormal pericardium morphology, Portal ...	ORPHA:284
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity	ORPHA:163703
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Raynaud pheno...	ORPHA:767
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein...	OMIM:617253
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Abnormality of the ...	ORPHA:579
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Vomiting, Nausea, Internal hemorrhage,...	ORPHA:99829
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Pruritus, Lymphadenopathy	ORPHA:86893
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla...	ORPHA:129
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Cough, Bronch...	OMIM:612444
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right...	ORPHA:97287
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr...	ORPHA:2848
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,...	ORPHA:324
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Myopathy, D...	OMIM:232400
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate amin...	OMIM:256810
Tetrasomy 9P	Renal dysplasia, Myositis, Pericarditis, Recurrent urinary tract infections, Dextrocardia, Raynau...	ORPHA:3310
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Renal cortical cysts, Erythroderma	OMIM:609180
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ...	ORPHA:185
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr...	ORPHA:64744
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypogonadism, Oligomenorrhea, Infertility, Dysphagia, Delayed menarche, Hypothyroi...	ORPHA:412057
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu...	OMIM:619433
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis	ORPHA:79148
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Impotence, Constipation, Nephropa...	ORPHA:85447
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Camptodactyly of finger	ORPHA:1658
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis, Schi...	ORPHA:90038
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Congestive heart failu...	ORPHA:354
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Proteinuria, Hypogonadotropic hypogonadism, C...	ORPHA:550
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Microp...	OMIM:602782
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage...	ORPHA:284227
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary art...	OMIM:615947
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Autoimmunity, Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infect...	ORPHA:1303
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithias...	OMIM:232200
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie...	ORPHA:33110
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnorma...	OMIM:615607
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis, Ren...	OMIM:269860
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne...	ORPHA:36238
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect	OMIM:602271
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Neonatal Alloimmune Neutropenia	Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon...	ORPHA:464370
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Skin rash, Splenomegaly, Patent ductus arteriosus, Throm...	ORPHA:290
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cranioectodermal Dysplasia 1	Hepatomegaly, Recurrent respiratory infections, Bicuspid aortic valve, Malformation of the hepati...	OMIM:218330
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia	ORPHA:67048
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Vomiting, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranopr...	OMIM:619525
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa...	ORPHA:77297
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Wells Syndrome	Vasculitis, Eosinophilia	ORPHA:901
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis	ORPHA:111
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Conjunctivitis, Erythroderma	OMIM:242150
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abnormal pericardium morphology, Hypogona...	ORPHA:35687
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi...	OMIM:601005
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Autoimmunity, Large for gestational age, Increased circulating free fatty acid level, Enlarged to...	ORPHA:293964
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hema...	ORPHA:251004
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Decreased circulating Ig...	OMIM:620005
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Immunoglobulin A Deficiency 1	Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,...	OMIM:137100
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals...	OMIM:619424
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cardiomyopathy, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, An...	OMIM:604250
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer	ORPHA:542592
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H...	OMIM:612541
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting	OMIM:618973
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Diarrhea, Organic aciduria...	OMIM:253260
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa...	OMIM:181000
Microlissencephaly	Pneumonia	ORPHA:1083
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid...	ORPHA:391641
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Congenital Disorder Of Glycosylation, Type Ia	Renal cyst, Hepatic fibrosis, Vomiting, Decreased circulating IgG level, Hepatic steatosis, Hypot...	OMIM:212065
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont...	ORPHA:35173
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ...	ORPHA:90363
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Carnosinuria, Cardiomyopathy	OMIM:309930
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Microvesicular he...	OMIM:611126
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Anhidrosis, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopath...	ORPHA:169090
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr...	ORPHA:369
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di...	ORPHA:99745
Limited Cutaneous Systemic Sclerosis	Autoimmunity, Skin ulcer	ORPHA:220402
Glutathionuria	Urinary incontinence, Constipation, Eczema, Glutathionuria	OMIM:231950
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Amyloidosis, Finnish Type	Renal insufficiency, Abnormal abdomen morphology, Cardiomyopathy, Nephrotic syndrome, Cardiac amy...	OMIM:105120
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu...	OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Eczema	OMIM:620393
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Exercise-induced rhabdomyolysis, Superficial dermal...	ORPHA:284426
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Melioidosis	Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra...	ORPHA:31202
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hyperhidrosis,...	ORPHA:391
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hair, Sparse hair, Pili ...	OMIM:301845
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega...	OMIM:619849
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co...	OMIM:618398
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,...	ORPHA:363705
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Angiostrongyliasis	Projectile vomiting, Increased circulating IgA level, Pruritus, Gastrointestinal eosinophilia, In...	ORPHA:74
Atransferrinemia	Congestive heart failure, Abnormality of the liver, Hypochromic anemia	OMIM:209300
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis	OMIM:238600
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia	ORPHA:295
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis...	ORPHA:90062
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death...	ORPHA:99901
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh...	OMIM:178500
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Blephariti...	OMIM:618535
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regene...	ORPHA:247691
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Long penis, Acne	ORPHA:3000
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti...	ORPHA:97244
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Autoimmunity, Sparse axillary hair, Sparse...	ORPHA:36397
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepa...	ORPHA:247585
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotran...	OMIM:614921
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure	OMIM:616794
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Arthritis, Increased circulating IgM level, Conjunc...	ORPHA:448237
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arthritis, Dysphagia, Arrhythmia	ORPHA:85446
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Anal atresia, Erythroderma	OMIM:617425
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Van Den Bosch Syndrome	Scapular winging, Recurrent skin infections	ORPHA:3417
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Oligomenorrhea	ORPHA:435651
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Hypospadias, Absence of the pulmonary valve, Ventricular septal...	OMIM:601808
Rift Valley Fever	Skin rash, Hematemesis, Hepatitis, Uveitis, Retinal hemorrhage, Melena, Increased circulating IgG...	ORPHA:319251
Aapoaiv Amyloidosis	Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic p...	ORPHA:439232
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Sp...	ORPHA:158057
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Chei...	OMIM:615468
Moyamoya Disease 1	Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Plasminogen Deficiency, Type I	Duodenal ulcer, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Non-Functioning Paraganglioma	Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart failure, Epi...	ORPHA:94080
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Gene...	OMIM:613561
Blue Rubber Bleb Nevus	Volvulus, Intestinal bleeding, Skin rash, Gastrointestinal infarctions	ORPHA:1059
Cutaneous Collagenous Vasculopathy	Pruritus, Erythema, Skin rash, Petechiae	ORPHA:280779
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczema, Decreased circulating antibody level	OMIM:618116
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Eczema	OMIM:619157
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Acute kidney ...	ORPHA:542323
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b...	OMIM:616719
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Sparse eyelashes, Sparse eyebrow, Joint contracture, Erysipelas	OMIM:615704
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Elevat...	OMIM:257200
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Pancreatitis, Vomiting	OMIM:248600
Mogs-Cdg	Decreased circulating IgG level, Hepatomegaly, Respiratory distress, Hypoventilation, Apnea, Pulm...	ORPHA:79330
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Naxos Disease	Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric...	ORPHA:34217
Familial Chylomicronemia Syndrome	Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H...	ORPHA:444490
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting...	ORPHA:31204
Bloom Syndrome	Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Decreased circulating IgG level, Decr...	ORPHA:125
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Nail-Patella Syndrome	Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Absence of pectoralis minor...	OMIM:161200
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Proteinuria, Skin...	ORPHA:761
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ...	OMIM:608594
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Dysbetalipoproteinemia	Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl...	ORPHA:412
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Impaired pl...	OMIM:617443
Overlap Myositis	Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi...	ORPHA:206572
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Pelvic mass, Jaundice, Ascites, Pancreatitis, Anemia	ORPHA:370348
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology	OMIM:266500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Foot joint contracture, Glome...	ORPHA:79408
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aci...	OMIM:210210
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pulmonary infiltrates, Sea-blue histiocy...	ORPHA:158029
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged prothr...	OMIM:616271
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, Increa...	OMIM:619472
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Grubben-De Cock-Borghgraef Syndrome	Eczema	ORPHA:2101
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea...	OMIM:618268
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Pericardial effusion, Chronic diarrhea, Decreased circulating a...	ORPHA:90362
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti...	OMIM:232300
Aicardi-Goutieres Syndrome 5	Flexion contracture, Chilblains, Increased circulating interferon-gamma concentration	OMIM:612952
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Antineutrophil antibody positivity, Increased circulating IgM leve...	ORPHA:2688
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat...	ORPHA:137667
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy	ORPHA:1349
Pachydermoperiostosis	Gastrointestinal hemorrhage, Abnormal hair quantity, Osteomyelitis, Acne, Peptic ulcer, Abnormal ...	ORPHA:2796
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosi...	ORPHA:52430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:614053
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis m...	ORPHA:420741
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ...	OMIM:613385
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove...	ORPHA:53721
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Atrial septal defect, Congestive heart failure	ORPHA:500533
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch...	OMIM:608758
Tick-Borne Encephalitis	Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Increased circulating IgG level, L...	ORPHA:297
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepa...	OMIM:268800
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Slc35A1-Cdg	Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, T lymphocytopeni...	OMIM:242860
Preeclampsia	Increased body mass index, Small for gestational age, Autoimmunity, Elevated circulating creatini...	ORPHA:275555
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification...	OMIM:208000
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Tracheomalacia	ORPHA:896
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Atelis Syndrome 1	Ventricular septal defect, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Br...	OMIM:620184
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Cardiomyopathy	OMIM:619046
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru...	ORPHA:411703
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Vom...	OMIM:619991
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left cor...	ORPHA:2326
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough...	ORPHA:60033
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T...	ORPHA:2890
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Hypertension, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio...	ORPHA:555874
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Female hypo...	OMIM:208900
Cholesteryl Ester Storage Disease	Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Gastroesophageal reflux, Constipation	ORPHA:3137
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, D...	ORPHA:29207
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Colitis, Cardiomegaly	ORPHA:88643
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Lym...	ORPHA:56425
Alg12-Cdg	Gastroesophageal reflux, Micropenis, Patent foramen ovale, Hypospadias, Partial absence of specif...	ORPHA:79324
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol...	ORPHA:77261
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenis...	ORPHA:228426
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Eczema, Sparse body hair	ORPHA:1810
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia	ORPHA:871
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc...	ORPHA:793
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90156
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Metrorrhagia, Epistaxis, Pericardial effusion, Splenomegaly, Thrombocytopeni...	ORPHA:464329
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Raynaud phe...	OMIM:613471
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti...	ORPHA:85436
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym...	ORPHA:543
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula...	OMIM:605309
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myoglobinuria, Rhabdomyolys...	ORPHA:228305
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly...	OMIM:610377
Phenylketonuria	Increased level of hippuric acid in urine, Fair hair, Elevated urinary phenylpyruvic acid level, ...	OMIM:261600
Lichen Planopilaris	Pruritus, Hepatitis, Skin ulcer	ORPHA:525
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Asthma, Atrial septal defec...	OMIM:619471
Central Precocious Puberty In Male	Acne, Abnormality of secondary sexual hair	ORPHA:649929
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, ...	ORPHA:779
Dk1-Cdg	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy...	ORPHA:91131
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Nausea, Pancreatitis, Jaundice, Cholester...	ORPHA:521219
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectas...	OMIM:300219
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function	OMIM:246900
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Th...	OMIM:606003
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia...	OMIM:618815
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis	OMIM:120100
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Throm...	ORPHA:905
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card...	OMIM:212138
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Reduced natural killer cel...	OMIM:608233
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Eczema, Increased urinary sulfite level, Fine hair, Decreased urinary sulfate, ...	OMIM:272300
Neutropenia, Severe Congenital, X-Linked	Eczema	OMIM:300299
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Cherry red ...	OMIM:228000
Cernunnos-Xlf Deficiency	Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,...	ORPHA:169079
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Arteria lusoria, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory di...	ORPHA:221139
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Oligosacchariduri...	ORPHA:2483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Increased uri...	ORPHA:2394
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Dyspnea, Ab...	OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Fanconi Anemia, Complementation Group F	Atrial septal defect, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocy...	OMIM:603467
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease...	ORPHA:94059
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, ...	OMIM:612843
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Patent du...	OMIM:616866
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg...	ORPHA:308552
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Abnormal circulating interleukin concentrati...	ORPHA:69665
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro...	OMIM:616483
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti...	ORPHA:319552
Spontaneous Periodic Hypothermia	Diarrhea, Skin rash, Arrhythmia	ORPHA:29822
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ...	ORPHA:556
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st...	OMIM:278000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis	OMIM:259100
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,...	ORPHA:542643
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole...	OMIM:602347
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal...	ORPHA:30
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Respiratory insufficiency	ORPHA:157973
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
X-Linked Immunoneurologic Disorder	Myopathy, Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory i...	ORPHA:746
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, R...	ORPHA:160
Leigh Syndrome	Ventricular septal defect, Eczema, Congestive heart failure, Lacticaciduria, Methylmalonic acidur...	ORPHA:506
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Poems Syndrome	Thrombocytosis, Pericardial effusion, Hypothyroidism, Respiratory insufficiency due to muscle wea...	ORPHA:2905
Classic Multiminicore Myopathy	Right ventricular failure, Intermittent episodes of respiratory insufficiency due to muscle weakn...	ORPHA:324604
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a...	ORPHA:1600
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema	OMIM:177000
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Hydronephrosis	OMIM:302960
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra...	OMIM:209920
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr...	ORPHA:90349
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Hypertension, Cardiomyopath...	OMIM:102200
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,...	ORPHA:1451
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Skin rash, Generalized hirsutism	ORPHA:317
Nail-Patella Syndrome	Decreased muscle mass, Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa...	ORPHA:2686
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia...	OMIM:617053
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Gastroes...	ORPHA:534
Alström Syndrome	Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test...	ORPHA:64
Kimura Disease	Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, Dystrophic...	OMIM:308800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Renal...	ORPHA:156
Leptospirosis	Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular...	ORPHA:509
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Congestive heart failure, Oligomenorrhea, Cirrhosis, H...	ORPHA:528
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Inflammatory abnormality of the skin, Tachycardia, Ventricul...	ORPHA:26793
Hypocalciuric Hypercalcemia, Familial, Type Ii	Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidis...	OMIM:145981
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Refractory Celiac Disease	Inflammatory abnormality of the skin, Villous atrophy, Malabsorption, Chronic diarrhea, Autoimmun...	ORPHA:398063
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Congestive ...	OMIM:252500
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart...	ORPHA:276621
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,...	OMIM:211600
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate,...	OMIM:617337
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened Q...	ORPHA:99880
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira...	OMIM:252900
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Nodular pattern ...	ORPHA:1546
Graves Disease, Susceptibility To, 1	Increased circulating free T4 concentration, Congestive heart failure, Increased circulating free...	OMIM:275000
Autosomal Erythropoietic Protoporphyria	Pruritus, Eczema	ORPHA:79278
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Eczema	ORPHA:1525
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Failure to th...	OMIM:235555
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Autoimmunity, Weight loss	ORPHA:33577
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Cardiomegaly, Vomiting, Macrovesicular hepatic steatosis, Antenatal ...	OMIM:608836
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc...	ORPHA:264580
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ...	OMIM:619167
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened Q...	ORPHA:143
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal...	ORPHA:3318
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation	OMIM:614171
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Vomiting, Neut...	ORPHA:90051
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Antinuclear antibody positivity, Cytoplasmic antineut...	ORPHA:199241
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop...	OMIM:610910
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Organic aciduria	OMIM:617184
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract infec...	ORPHA:583
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Abno...	ORPHA:90117
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Noonan Syndrome 8	Ventricular septal defect, Eczema, Cryptorchidism, Patent ductus arteriosus, Mitral regurgitation...	OMIM:615355
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Conge...	ORPHA:14
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis	OMIM:145980
Mitochondrial Complex I Deficiency, Nuclear Type 35	Lacticaciduria, Cardiomyopathy, Elevated urinary 4-hydroxybutyric acid, Pulmonary arterial hypert...	OMIM:619003
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr...	ORPHA:85212
Familial Benign Copper Deficiency	Early balding, Acne	ORPHA:1551
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased he...	OMIM:619259
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Autoimmunity, Autoimmune antibody positivity, Chr...	ORPHA:36913
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul...	OMIM:619351
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Nephrotic syndrome, As...	ORPHA:834
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Skin rash	ORPHA:33276
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased...	OMIM:300861
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Fatty ...	ORPHA:329478
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Chops Syndrome	Ventricular septal defect, Gastroparesis, Tracheomalacia, Splenomegaly, Patent ductus arteriosus,...	OMIM:616368
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276556
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Meige Disease	Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of...	ORPHA:90186
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Lipoid Proteinosis	Acne, Pustule, Alopecia of scalp, High palate, Dysphagia, Microglossia, Tongue nodules	ORPHA:530
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart...	OMIM:310200
Trichothiodystrophy	Congenital exfoliative erythroderma, Sparse scalp hair, Multiple joint contractures, Ventricular ...	ORPHA:33364
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276575
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Urinary incontinence, Bowel incontinence, Con...	OMIM:616482
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, 3-Methylglutaconic aciduria, Pulmonary arterial h...	OMIM:212350
Gaucher Disease	Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abnormal pericardium morphology, Hep...	ORPHA:355
Primary Biliary Cholangitis	Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Prur...	ORPHA:186
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A...	OMIM:276700
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor...	ORPHA:1876
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ...	ORPHA:436252
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia, Dystrophic fingernails, D...	ORPHA:158673
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Telangiectas...	OMIM:604173
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Lymphangioma, Arteriovenous malformation	ORPHA:137608
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Fucosidosis	Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolate...	OMIM:230000
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi...	OMIM:301068
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Azoospermia, Hepatic failure	ORPHA:261519
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Renal duplication, Urinary bladder inflammation, C...	ORPHA:79403
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Furrowed tongue, Nail dystrophy, G...	OMIM:614204
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, Bacteria...	ORPHA:1054
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr...	OMIM:205400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira...	OMIM:252930
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Acne, Cleft palate, High palate, Pulmonic stenosis	ORPHA:3098
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level, Nail dystrophy	ORPHA:89843
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelecta...	ORPHA:536467
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Cardiomyopathy	ORPHA:773
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Dilat...	OMIM:610768
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb...	OMIM:139090
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Diarrhea, Atopic der...	ORPHA:2070
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic di...	OMIM:158310
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep...	ORPHA:79329
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Cln3 Disease	Acne, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertrophy, Urinary bladder sph...	ORPHA:228346
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat...	OMIM:619355
Visceral Myopathy 1	Gastroparesis, Diarrhea, Megacystis, Hydronephrosis, Urinary retention, Vomiting, Constipation, D...	OMIM:155310
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
B4Galt1-Cdg	Elevated hepatic transaminase, Splenomegaly, Inflammatory abnormality of the skin, Hepatomegaly	ORPHA:79332
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Eczema, Ventricular septal defect, Hypospadias, Highly arched eyebrow, Rec...	ORPHA:500159
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi...	ORPHA:3208
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Thrombocytopenia 1	Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr...	OMIM:313900
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Scapular winging, Sparse scalp hair, Bicuspid aortic valve, Myocardial infarct...	OMIM:150230
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276580
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Eczema, Seborrheic dermatitis, High, narrow palate, Mitral valve ...	ORPHA:369950
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Nausea, Congestive heart...	ORPHA:29072
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Ectodermal Dysplasia-Syndactyly Syndrome 2	Hyperhidrosis, Cardiomegaly	OMIM:613576
Hennekam Syndrome	Recurrent respiratory infections, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary l...	ORPHA:2136
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism	ORPHA:2795
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic ot...	ORPHA:581
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno...	ORPHA:98849
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pulmonary infiltrates, Hemop...	ORPHA:79477
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Restricti...	ORPHA:1900
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Keratoconjunctivitis, Organic aciduria, Perioral eczema	ORPHA:79242
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer	ORPHA:1334
Hand-Foot-Genital Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Small thena...	OMIM:140000
Alg1-Cdg	Renal insufficiency, Abnormal heart morphology, Cardiomyopathy, Nephrotic syndrome, Decreased liv...	ORPHA:79327
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Hartnup Disease	Glossitis, Abnormal urinary color, Skin rash, Malabsorption, Infectious encephalitis, Neutral hyp...	ORPHA:2116
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial inf...	ORPHA:902
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cryptorchidism, Heart murmur, Abnormal heart morphology, Decreased testicular size	ORPHA:1867
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Peri...	ORPHA:167
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Nephrotic syndrome, Ca...	OMIM:617713
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Abnormal heart morphology, Aspiration pneu...	ORPHA:79264
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Lassa Fever	Shock, Menometrorrhagia, Cough, Dyspnea, Jaundice, Diarrhea, Oliguria, Increased circulating IgM ...	ORPHA:99824
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Acne, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,...	ORPHA:445038
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Renal agenesis, Acne, Frontal balding, Synophrys, Cleft palate, Facial hirsutism, ...	ORPHA:247768
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Eczema, Hypospadias, Highly arched eyebrow, Syn...	OMIM:617751
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly	ORPHA:772
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo...	OMIM:167800
Agel Amyloidosis	Proteinuria, Facial palsy, Pruritus, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjun...	ORPHA:85448
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Tsh-Secreting Pituitary Adenoma	Hyperhidrosis, Vomiting, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Peric...	ORPHA:91347
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Folliculitis, Nail dystrophy, Ora...	OMIM:167210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,...	ORPHA:83617
Martsolf Syndrome 1	Recurrent respiratory infections, Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart...	OMIM:212720
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert...	OMIM:253700
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Sitosterolemia 1	Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthri...	OMIM:210250
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Peripheral arterial stenosis, Hypo...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal ...	OMIM:614922
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia,...	OMIM:607143
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Spl...	OMIM:612852
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp...	OMIM:616897
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	High palate, Long eyelashes, Skin rash, Low posterior hairline	OMIM:617523
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion con...	OMIM:607014
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Eczema, Chronic constipation, Gastroesophageal reflux, Hypoplastic left he...	OMIM:619721
Pelger-Huet Anomaly	Ventricular septal defect, Eczema, Lower limb hypertonia, Recurrent otitis media, Median cleft pa...	OMIM:169400
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer	ORPHA:86884
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu...	OMIM:214500
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Rhinitis, Mucopolysacchariduria	ORPHA:93474
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Inc...	ORPHA:508533
Bloom Syndrome	Hepatic steatosis, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recur...	OMIM:210900
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Renal tubular...	OMIM:530000
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin...	OMIM:608710
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Ventricular septal defect, Shoulder muscle hypoplasia, S...	OMIM:274000
Fixed Drug Eruption	Stomatitis, Crusting erythematous dermatitis	ORPHA:293812
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir...	OMIM:109650
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Scaling skin, Skin ulcer	ORPHA:454831
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti...	ORPHA:98908
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic ...	OMIM:608013
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Macular purpura	ORPHA:49566
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Telangiectasia of the skin, Enlarged kidney, Seborrheic dermatitis	ORPHA:276280
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease...	ORPHA:293978
Familial Tumoral Calcinosis	Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis	ORPHA:53715
Vici Syndrome	Recurrent respiratory infections, Decreased circulating IgG2 level, Ureteral atresia, Renal tubul...	ORPHA:1493
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art...	OMIM:251290
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Hepatic steatosis, A...	OMIM:151660
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Acne, Cleft palate	ORPHA:261190
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Dengue Fever	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, Diarrhea, Hypot...	ORPHA:99828
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo...	OMIM:610199
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi...	OMIM:123700
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Diarrhea, Stroke-like episode, Cardiomyopathy, Impotence, Con...	OMIM:105210
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol...	OMIM:607626
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Apnea, Cough, Splenomegaly, Thrombocytopenia, Stridor, Gastroes...	OMIM:230900
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperineal fistula, Perio...	OMIM:613960
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly reduced left ventri...	ORPHA:66529
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ...	ORPHA:678
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure, Stroke	ORPHA:3077
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Pustule, Atopic dermatitis, Hypovolemic shock, Vomiting, Arrhythmia	ORPHA:171876
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Apnea, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia,...	OMIM:618253
Scleromyxedema	Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of the kidney, ...	ORPHA:167635
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platel...	OMIM:222470
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte...	ORPHA:555877
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Multicystic kidney dyspla...	OMIM:308205
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Sudden cardiac dea...	ORPHA:758
Monosomy 22	Seborrheic dermatitis, Synophrys, Contractures of the large joints, High palate, Sparse hair, Mic...	ORPHA:96123
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Anemia	ORPHA:1842
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Angina pectoris,...	ORPHA:93473
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis	ORPHA:37
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro...	ORPHA:66628
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ...	ORPHA:368
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract...	OMIM:253200
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular t...	ORPHA:159
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfa...	OMIM:607015
Morgagni-Stewart-Morel Syndrome	Hypertension, Osteoarthritis, Acne, Hirsutism	ORPHA:77296
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarr...	OMIM:601495
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Peripheral arter...	ORPHA:71493
Incontinentia Pigmenti	Skin rash, Telangiectasia of the skin, Eosinophilia, Keratitis, Congestive heart failure, Retinal...	ORPHA:464
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent...	ORPHA:90348
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Aarskog-Scott Syndrome	Congestive heart failure, Cryptorchidism	ORPHA:915
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebra...	ORPHA:904
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Flexion contracture, Lowe...	OMIM:301072
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Arrhythmia, ...	ORPHA:254913
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Pituitary hypothyro...	ORPHA:179494
Ollier Disease	Skin ulcer	ORPHA:296
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa...	ORPHA:584
Complement Factor B Deficiency	Peritonitis, Pneumonia, Decreased circulating complement factor B concentration	OMIM:615561
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG...	OMIM:615418
Ogden Syndrome	Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic...	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Skin rash, Pulmonic stenosis	OMIM:617600
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Nephrotic syndrome, Ker...	ORPHA:238468
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Prolidase Deficiency	Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Dry skin	ORPHA:742
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Ventricular septal defect, Decreased response to growth hormone stimulation test, Tr...	ORPHA:444077
Hsd10 Disease, Infantile Type	Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in ...	ORPHA:391428
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio...	ORPHA:436271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Pulmonary insufficiency, Ne...	OMIM:208500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Mucolipidosis Type Ii	Aortic regurgitation, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:576
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Test...	OMIM:222300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly...	OMIM:619418
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Jaundice, Chronic calcifying pancreatitis, Vomiting, Abnormal ...	ORPHA:103918
Meningococcal Meningitis	Shock, Renal insufficiency, Projectile vomiting, Skin rash, Hypotension, Infectious encephalitis	ORPHA:33475
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Elb...	ORPHA:3132
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart m...	ORPHA:79284
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl...	OMIM:608149
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome,...	OMIM:607426
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Classic Phenylketonuria	Hypopigmentation of hair, Eczema	ORPHA:79254
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol...	ORPHA:98907
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Fetal ascite...	OMIM:607625
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Alopecia, Acne, Hirsutism	OMIM:615830
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:253220
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo...	ORPHA:79404
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Encephalitis Lethargica	Urinary incontinence, Bowel incontinence, Autoimmunity, Upper limb muscle weakness, Increased cir...	ORPHA:83600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Bilateral fetal pyelectasis, Seborrheic dermatitis...	OMIM:300868
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu...	OMIM:220110
Plague	Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In...	ORPHA:707
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa...	OMIM:153670
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola...	OMIM:258900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation	OMIM:613320
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Aceruloplasminemia	Refractory anemia, Congestive heart failure, Abnormal pancreas morphology, Hypochromic microcytic...	ORPHA:48818
Type 1 Diabetes Mellitus	Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excretion, Aspiration pneumonia, In...	ORPHA:79255
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Cardiomyopathy, Prolonged prothrombin time, Abnormality of the liv...	ORPHA:88618
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Renal tubular acidosis, Cardiomyopathy, Chronic kidney disease, 3-Methylglutaconic aciduria	ORPHA:324525
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Myotonic Dystrophy 2	Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Decre...	OMIM:602668
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ...	ORPHA:760
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Cardiac ...	OMIM:181270
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia	OMIM:617710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Diarrhea, Irregular mens...	ORPHA:79240
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria,...	ORPHA:349
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Lacunar stroke, Mucop...	OMIM:618440
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Gastro...	OMIM:619488
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, ...	OMIM:253270
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hype...	ORPHA:428
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy, Glutaric aciduria, D-2-hydroxyglutaric aciduria	OMIM:600721
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Hypogonadism, Decreased testicula...	OMIM:201100
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased liver function, Anemia	OMIM:618839
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P...	ORPHA:3309
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus...	ORPHA:251066
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Skin rash, Dextrocardia, Stomatitis, Megaloblastic anemia, Thrombocyt...	OMIM:277380
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis	OMIM:116920
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Dyspnea, Right bundle branch block, Hyperte...	OMIM:614008
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Celiac disease, Diarrhea, Thyroiditis, Vomiting, Recurrent aphthous stomatitis,...	OMIM:212750
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Ta...	OMIM:239200
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy...	OMIM:617022
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease	ORPHA:5
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Elbow contracture, Knee flexion contracture, Decreased circulating tot...	OMIM:618162
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi...	OMIM:277900
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s...	ORPHA:1775
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia, Respiratory insufficiency, Bowel incontinence	ORPHA:682
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Gjc2-Related Late-Onset Primary Lymphedema	Recurrent skin infections	ORPHA:568051
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Myasthenia, Limb-Girdle, Autoimmune	Mildly elevated creatine kinase, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus	OMIM:159400
Marfan Syndrome	Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothorax, Congestive heart fail...	ORPHA:558
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology...	ORPHA:77293
W Syndrome	Acne, Submucous cleft hard palate, Abnormality of the scalp hair, Camptodactyly, Broad uvula	ORPHA:2804
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Chronic diarrhea,...	ORPHA:217085
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct...	OMIM:618329
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Gastrointestinal dysmotility, Recurrent skin infections	OMIM:616488
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism...	ORPHA:94093
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Ring Chromosome 12 Syndrome	Acne, Secundum atrial septal defect, High, narrow palate, Glandular hypospadias, Dystrophic toena...	ORPHA:1439
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy, Micropenis	OMIM:618810
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit...	OMIM:257220
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Decreased liver function	ORPHA:79321
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Congestive h...	OMIM:617156
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation...	OMIM:606721
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Premature arteriosclerosis, Abnormality of the pulmonary a...	ORPHA:79474
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Vomiting, Hypotension, Mastocyt...	ORPHA:2135
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Hypoperistalsis, ...	ORPHA:1018
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Chronic diarrhea,...	ORPHA:217093
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Inflammati...	OMIM:203300
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Mpdu1-Cdg	Eczema, Renal cortical cysts	ORPHA:79323
Hatipoglu Immunodeficiency Syndrome	Hypospadias, Eczema, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Fair hair	OMIM:620331
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Penoscrotal Transposition	Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality of the ureter, Ca...	ORPHA:2842
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl...	ORPHA:733
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism, Unilateral renal agenesis	OMIM:158330
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Pericardial effusion, Cardiomyopathy, Elevated urine acetoacetic acid le...	OMIM:620089
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic diarrhea, Chronic decreased circulating ...	OMIM:300953
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Hepatoblastoma, Nephroblastoma, Cardiomegaly, Splenomegaly, H...	ORPHA:116
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, P...	OMIM:154700
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Malrotation of...	ORPHA:2953
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Respiratory insufficiency	OMIM:166210
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Re...	OMIM:235510
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic ...	ORPHA:2072
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,...	OMIM:620306
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal...	ORPHA:89842
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Microp...	OMIM:617403
Pituitary Gigantism	Elevated circulating growth hormone concentration, Pituitary prolactin cell adenoma, Pituitary gr...	ORPHA:99725
Maternal Uniparental Disomy Of Chromosome 6	Eczema, Cleft palate	ORPHA:96181
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure, Elevated circulating growth hormone concentration	OMIM:160980
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyt...	ORPHA:423
Estrogen Resistance	Breast aplasia, Acne	OMIM:615363
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Decreased liver function, Anemia	OMIM:618835
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Hypospadias, Bicuspid aortic ...	OMIM:619475
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism	OMIM:613224
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym...	OMIM:617827
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot...	OMIM:616843
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate...	OMIM:613610
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cardiomyopa...	OMIM:605275
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Dubowitz Syndrome	Sparse scalp hair, Hypospadias, Eczema, Velopharyngeal insufficiency, Chronic diarrhea, Submucous...	OMIM:223370
Hallermann-Streiff Syndrome	Congestive heart failure, Cryptorchidism, Uveitis, Respiratory insufficiency, Abdominal situs inv...	ORPHA:2108
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Pollakisuria, Reduced left ventricular eje...	ORPHA:268
Milroy Disease	Erysipelas	ORPHA:79452
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Gastroesophageal r...	OMIM:617913
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Increased circulating IgE level, Abnormality of the...	ORPHA:3409
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal pulmona...	ORPHA:580
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricular hypertrophy,...	OMIM:618321
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Lower limb amyotrophy	ORPHA:496790
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Cysticercosis	Calcification of muscles, Iridocyclitis, Abnormal skeletal muscle morphology, Increased circulati...	ORPHA:1560
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res...	OMIM:225400
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Hypospadias, Cryptorchidism	ORPHA:2505
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Ventricular septal defect, Cryptorchidism, A...	OMIM:122470
Trichinellosis	Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dys...	ORPHA:863
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect, Eczema, Hypospadias	ORPHA:96097
Chand Syndrome	Atelectasis, Hydroureter, Hypohidrosis	ORPHA:1401
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Abnormal tongue morphology,...	ORPHA:158668
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Ascites	OMIM:611719
Glycerol Kinase Deficiency	Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency, Episodic...	OMIM:307030
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Lymp...	OMIM:616395
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum mo...	ORPHA:97297
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusi...	ORPHA:1272
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Conjunctivitis, Hypopl...	OMIM:103285
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl...	ORPHA:416
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:610733
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair	ORPHA:99429
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormal urinary color	ORPHA:234
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Japanese Encephalitis	Respiratory distress, Neutrophilia, Pulmonary edema, Diarrhea, Increased circulating IgM level, V...	ORPHA:79139
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Nausea, Pustule, Respiratory tract infection, Intraren...	ORPHA:68
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Exocrine pancreatic insufficiency	OMIM:260450
Cholera	Tachycardia, Abnormality of renal excretion, Diarrhea, Tachypnea, Hypovolemic shock, Stroke, Vomi...	ORPHA:173
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Hepatosplenome...	ORPHA:309282
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Abnormality of...	ORPHA:2237
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis	OMIM:231050
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia, Dysphagia	ORPHA:52368
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Type 2 muscle fiber predomin...	OMIM:615471
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte...	ORPHA:51608
Noonan Syndrome 5	Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:611553
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Vesicouretera...	ORPHA:353281
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer	ORPHA:659
Infantile Myofibromatosis	Skin ulcer	ORPHA:2591
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho...	ORPHA:646
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Splenomegaly,...	OMIM:252010
Chikungunya	Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Pruritus, Cervical lymphadenop...	ORPHA:324625
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hypertrop...	ORPHA:251071
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias...	OMIM:130650
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Decreased circulating total IgM, Gastroesophageal reflux, Nail dystro...	OMIM:620040
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, E...	ORPHA:2907
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Skin ulcer	ORPHA:1806
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Joubert Syndrome 21	Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Dysphagia, H...	OMIM:615636
Autoimmune Polyendocrinopathy Type 1	Autoimmunity, Chronic mucocutaneous candidiasis	ORPHA:3453
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Uric aci...	OMIM:220150
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an...	OMIM:114065
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Acne, Nephrolithiasis, Proximal amyotrophy, Hypertens...	ORPHA:189427
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Myoglobinuria, Rh...	OMIM:616878
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Impaired T cell function, Cryptorchidism, Interrup...	OMIM:192430
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Autoimmunity, Hypercalcemia, Hy...	ORPHA:199299
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Weakness of facial musculature	OMIM:201470
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Increased circulating antibody level, Intrinsic hand muscle atrophy, ...	ORPHA:99965
Isolated Osteopoikilosis	Discoid lupus rash, Autoimmunity	ORPHA:166119
Estrogen Resistance Syndrome	Acne, Breast hypoplasia, Abnormality of the pubic hair	ORPHA:785
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypospadias, Patent foramen...	ORPHA:17
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati...	OMIM:608328
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Bicuspid aortic valve, Hypospadias, Allergic rhinitis, Impaired ...	OMIM:176690
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Palpitations, Hypertro...	OMIM:618250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri...	ORPHA:2908
Coffin-Siris Syndrome	Hypospadias, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:1465
Tay-Sachs Disease	Cherry red spot of the macula, Dysphagia, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular se...	OMIM:607721
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac...	ORPHA:158687
Noonan Syndrome 10	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Hyper...	OMIM:616564
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Biotinidase Deficiency	Alopecia, Skin rash, Organic aciduria, Conjunctivitis, Limb muscle weakness, Eczematoid dermatitis	ORPHA:79241
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Renal salt wasting, Long penis, Hirsutism, Intracranial hemorrhage, Hypertension,...	ORPHA:90795
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Autoimmunity	ORPHA:91354
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conju...	ORPHA:95455
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul...	ORPHA:500
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum mo...	OMIM:217980
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation	OMIM:612918
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Atrial septal defect...	ORPHA:438213
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Familial Glucocorticoid Deficiency	Autoimmunity, Renal salt wasting, Cryptorchidism, Testicular adrenal rest tumor, Hypernatriuria, ...	ORPHA:361
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop...	OMIM:115150
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolithiasis, Cardiomyopathy	OMIM:135500
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Skin rash, Elevated circulat...	ORPHA:97280
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Nail dystrophy, Camptodactyly, Broad eyebrow	OMIM:601088
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis...	OMIM:263700
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis,...	OMIM:619745
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Constipation, Cardiomegaly	OMIM:618143
Cleft Velum	Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia	ORPHA:99772
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Macroglossia, Pulmonic stenosis...	ORPHA:3071
Wolfram Syndrome	Gastrointestinal hemorrhage, Dysuria, Abnormal mesentery morphology, Cardiomyopathy, Myopathy, Ne...	ORPHA:3463
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal...	ORPHA:79277
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Absent eyelashes, Sparse e...	OMIM:305100
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, V...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, V...	ORPHA:353277
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Protruding tongue, Synophrys, Decreased circulating antibody level, Abnorm...	OMIM:617062
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Classic Pantothenate Kinase-Associated Neurodegeneration	Cough, Aspiration pneumonia, Dysphagia	ORPHA:216866
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Renal tubular dysfunction, Cirrhosis, Glycosuria, Hypertrophic cardiomyo...	OMIM:616539
Myasthenia Gravis	Autoimmunity, Thymoma	OMIM:254200
Carney Complex	Neoplasm of the pancreas, Sertoli cell neoplasm, Elevated circulating growth hormone concentratio...	ORPHA:1359
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia	ORPHA:572798
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:175
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Red urine, Red-brown urine, ...	ORPHA:95159
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d...	OMIM:245600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Diastasis recti, Intest...	OMIM:601776
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Defective production of...	OMIM:612132
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Ileus, Hypohidrosis, Constipation, Hypogonadism, Arrhythmia	ORPHA:163746
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Gastroparesis, Unilatera...	ORPHA:500150
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	OMIM:609942
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Dysphagia, Urinary urgen...	ORPHA:99027
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, L...	ORPHA:255210
Smith-Lemli-Opitz Syndrome	Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom...	OMIM:270400
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morpholo...	ORPHA:369837
Angioedema, Hereditary, 1	Erythema, Autoimmunity	OMIM:106100
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Urinary bladder sphincter dysfunction	ORPHA:95
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Proximal tubulopathy, Abnormal mitochondria in muscle ...	ORPHA:2609
Marshall-Smith Syndrome	Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio...	OMIM:602535
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Macrog...	ORPHA:769
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Proteinuria, Angina pectoris, ...	ORPHA:79318
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coa...	OMIM:617088
Infantile Systemic Hyalinosis	Skin ulcer	ORPHA:2176
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas	ORPHA:2526
Okamoto Syndrome	Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology...	ORPHA:2729
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Acne, Frontal balding, Hypertension, Hirsutism	ORPHA:786
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration	OMIM:256800
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Autoimmunity, Hypercalcemia, Hyperkalemia, Weight loss, Increase...	ORPHA:95409
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Leukopenia, Urinary retention,...	ORPHA:1328
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Neonatal ...	OMIM:312870
Ehlers-Danlos Syndrome, Periodontal Type, 1	Palmoplantar cutis laxa, Periodontitis, Autoimmunity	OMIM:130080
Addison Disease	Normocytic anemia, Hyponatremia, Autoimmunity, Hypercalcemia, Thiamine-responsive megaloblastic a...	ORPHA:85138
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Aspiration pneumonia	ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia	OMIM:616430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic ...	OMIM:614052
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El...	OMIM:243800
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Pneumonia, Jaundice, Vomiting, Macroorchidism	ORPHA:90790
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Cardiomyopathy, Neutropenia	ORPHA:79430
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Stiff-Person Syndrome	Autoimmunity, Anemia	OMIM:184850
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid...	ORPHA:96191
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Hypospadias, Decre...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Eczema, Hypospadias, Decre...	ORPHA:363958
Toriello-Carey Syndrome	Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pul...	ORPHA:3338
Leopard Syndrome 1	Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Complete atriovent...	OMIM:151100
Cushing Disease	Acne, Skin ulcer, Recurrent cutaneous fungal infections, Ecchymosis, Striae distensae, Purpura	ORPHA:96253
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Chronic constipation, ...	OMIM:619482
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism, Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia	OMIM:271510
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Juncti...	OMIM:309801
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Macroorchidism, Splenomeg...	ORPHA:93
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Pineal cyst, Atrial se...	OMIM:600268
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity...	ORPHA:93284
Glossopharyngeal Neuralgia	Autoimmunity, Weight loss	ORPHA:221098
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart m...	ORPHA:93924
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent respiratory infections, Hypospadias, Pneumonia, Secundum atrial ...	OMIM:264090
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Eczema, Coronary sinus enlargement, Hypospadias, Atrial septal defect,...	OMIM:619268
Spinocerebellar Ataxia Type 7	Congestive heart failure, Dysphagia	ORPHA:94147
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level, Low pulse pre...	ORPHA:86816
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Acromegaly	Acne, Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Wide penis, Lon...	ORPHA:963
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Abnorm...	ORPHA:84
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Hajdu-Cheney Syndrome	Dry skin, Periodontitis, Skin ulcer	ORPHA:955
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Neoplasm of the pan...	ORPHA:2929
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Distal amyotrophy, Increased circulating antibody level, Dysphagia	OMIM:606002
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Arthritis, Keratoc...	ORPHA:99921
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Congenital hypothyroidis...	ORPHA:79500
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcin...	ORPHA:508
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi...	OMIM:218040
Chime Syndrome	Erythema, Skin ulcer	ORPHA:3474
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Somatomammotropinoma	Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Pituitary adenoma, Ma...	ORPHA:314769
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Congenital diaphragmatic hernia,...	ORPHA:2556
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy...	OMIM:163950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Increased hepatocellular lipid dro...	OMIM:220111
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Interphalangeal joint contracture of fin...	ORPHA:96334
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Leprosy	Iritis, Penetrating foot ulcers, Acral ulceration, Uveitis	ORPHA:548
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Skin ulcer, Recurrent cutaneous fungal infections, Ecchymosis, Striae distensae, Purpura	ORPHA:99889
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re...	ORPHA:363700
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Hypoplastic nipples, At...	ORPHA:480880
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog...	ORPHA:97685
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Heart murmur, Cardiomyopathy, Aspiration ...	OMIM:216340
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - hyperplasia	Trex1^{tm1(KOMP)Wtsi}	HET		Early adult

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 Trex1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Trex1^{tm1(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Trex1^{tm1(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Trex1^{tm1(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Trex1^{tm1(KOMP)Wtsi}	PMC5827107
A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice.	G3 (Bethesda, Md.) (August 2016)	Trex1^{tm1(KOMP)Wtsi}	PMC4978889

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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
Trex1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Trex1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trex1 MGI:1328317

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Trex1 mutations

Histopathology

IMPC related publications

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