| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Abnormal T cell count, Abnormal B cell count, Recurrent respirato... |
OMIM:613495 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... |
OMIM:618204 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Histiocytosis |
OMIM:235900 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu... |
OMIM:615617 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
| Immunodeficiency 50 |
|
Lymphopenia, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... |
OMIM:620449 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... |
OMIM:613496 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... |
ORPHA:169079 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| White Forelock With Malformations |
|
Poliosis, White forelock, Atrial septal defect |
OMIM:277740 |
| Immunodeficiency 104 |
|
Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent... |
OMIM:608971 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... |
OMIM:613501 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... |
OMIM:202700 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... |
OMIM:617514 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Hirsutism |
ORPHA:90301 |
| Reticular Dysgenesis |
|
Sepsis, Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B lymphocytopenia, T lym... |
OMIM:619164 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Hepat... |
OMIM:607624 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... |
OMIM:616873 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... |
OMIM:613500 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Recurrent sinusitis, Onychomycosis, B l... |
ORPHA:217390 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... |
ORPHA:169154 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Recurrent otit... |
OMIM:618986 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... |
OMIM:615415 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... |
ORPHA:895 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent respiratory infect... |
OMIM:615206 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Coarse hair, Hypertrophic cardiomyopathy, Long eye... |
OMIM:617303 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Abnormal heart morphology, Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
ORPHA:277 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Immunodeficiency 68 |
|
Sepsis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent ... |
ORPHA:572 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic synd... |
OMIM:269920 |
| Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomeg... |
OMIM:252920 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... |
OMIM:607676 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Hypoplastic toenails, Hydronephrosi... |
OMIM:608836 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Recurrent respiratory inf... |
OMIM:618108 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Severe Combined Immunodeficiency, X-Linked |
|
Recurrent pneumonia, Hypoplasia of the thymus, Recurrent fungal infections, Impaired lymphocyte t... |
OMIM:300400 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Meacham Syndrome |
|
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Sepsis, ... |
ORPHA:276 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Hypoplastic fingernail, Nephroblastomatosis, Enlarged kidney,... |
OMIM:608022 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrichosis, Abnormal heart morphology, Heparan sulfate excretion in urine, Hepatosplenomegaly... |
ORPHA:505248 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Situ... |
OMIM:208540 |
| Immunodeficiency 115 With Autoinflammation |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Decreased proportion of... |
OMIM:620632 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys |
OMIM:619064 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Recurrent otitis media,... |
OMIM:615607 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| H Syndrome |
|
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Hepatosplenomegaly, Hyperpigmentation of t... |
ORPHA:168569 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Reduced renal corticomedullary differentiation, Splenomegaly, Hepat... |
OMIM:618541 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Thick eyebrow, Cardiomegaly... |
OMIM:300280 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hypertrichosis, Abnormal heart morphology, Abnormal renal artery morph... |
ORPHA:79328 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of retinal pigmentation |
ORPHA:858 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Renal insu... |
OMIM:276700 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Naxos Disease |
|
Subungual hyperkeratosis, Dilated cardiomyopathy, Sparse eyebrow, Sparse body hair, Abnormal hear... |
OMIM:601214 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Premature graying of hair, Partial albinism, Splenomegaly, Hepatomegaly, H... |
ORPHA:79477 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomeg... |
OMIM:301078 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Hypopigmentation of the skin, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... |
OMIM:252500 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Blue irides, White hair |
OMIM:250900 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, T l... |
OMIM:610163 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Enlarged kidney |
ORPHA:464329 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Absent natural killer cells, Lymphopenia, Hepato... |
ORPHA:35078 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Sepsis, Recurrent candida infections, Recurrent urinary tract infections, R... |
ORPHA:83471 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myo... |
OMIM:253250 |
| Pgm3-Cdg |
|
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Recurrent viral infections, Cutaneous ... |
ORPHA:443811 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocytic nevus, Freckles in sun... |
OMIM:203300 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... |
OMIM:256550 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Long eyelashes, Curly eyelashes, Cardiomegaly, Bicuspid... |
OMIM:239850 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent otitis media... |
OMIM:600802 |
| Hemochromatosis, Type 1 |
|
Alopecia, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hyperpigmentation of the skin, Hepatomegaly |
OMIM:235200 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Hepatosplenomeg... |
OMIM:606367 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, C... |
OMIM:212140 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Absent hair, Congenital alopecia totalis, Absent toenail, Cardiomegaly, Absent ey... |
ORPHA:158687 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis |
OMIM:614473 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Horseshoe kidney, Vitiligo, Multiple lentigines, Silver-gray hair |
ORPHA:101003 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... |
ORPHA:500095 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Hypopigmentation of hair, Hypertrophic cardiomyopathy |
ORPHA:70472 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Cardiac myxoma, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Ogden Syndrome |
|
Sparse eyebrow, Secundum atrial septal defect, Fine hair, Long eyelashes, Patent foramen ovale, V... |
OMIM:300855 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Facial hypertrichosis, Hypertrichosis, Hypertrophic cardiomyopathy,... |
ORPHA:508 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Melanocytic nevus, Vesicoureteral reflux... |
ORPHA:116 |
| Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Abnormality of hair pigmentation, Bicuspid aortic valve, Ele... |
OMIM:618156 |
| Immunodeficiency 40 |
|
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Thrombocytopenia, T lymphocy... |
OMIM:616433 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Recurrent lower respiratory tract infections, T lymphocytopenia, Abnormal natural killer cell mor... |
OMIM:615966 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Trichorrhexis nodosa, Splenomeg... |
ORPHA:84064 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl... |
ORPHA:1517 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
| Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Hypospadias, Blue irides |
OMIM:614613 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... |
OMIM:306400 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Hypertrichosis, Abnormal heart valve morphology, Ventricular septal defect... |
ORPHA:363705 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepato... |
ORPHA:228308 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria |
ORPHA:42 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, High anterior hairline, Recurrent urinary tract infections, Abnormal heart mor... |
OMIM:615873 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... |
OMIM:300755 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syndrome |
OMIM:617713 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis |
ORPHA:99931 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, Left ventricula... |
ORPHA:79330 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... |
ORPHA:79259 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Cardiomegaly,... |
OMIM:201475 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Cardiomegaly |
OMIM:618886 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car... |
ORPHA:391428 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Bicuspid aortic valve, Abnormal cardiac... |
ORPHA:96169 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the nail, Cardiomegaly |
ORPHA:349 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Short nail, Duplication of renal pelvis, Cardiomyopathy,... |
OMIM:312870 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
| Sickle Cell Disease |
|
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Mitral valve prolapse |
OMIM:229200 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Alopecia of scalp, Splenomegaly, Mitral valve prolapse, Ventricular septal de... |
OMIM:602782 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hyperpigmentation of the skin, Generalized bronze hyp... |
ORPHA:465508 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Proteus Syndrome |
|
Abnormality of the nail, Long penis, Irregular hyperpigmentation, Central heterochromia, Melanocy... |
ORPHA:744 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
| Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Coarse hair, Heparan sulfate excretion in urine, Urinary glycosaminoglyca... |
ORPHA:581 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Partial alb... |
ORPHA:79430 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hepatomegaly |
OMIM:614921 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Hirsutism, Low posterior hairline, Synophrys |
ORPHA:2463 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Splenomeg... |
OMIM:214500 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Thick eyebrow, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:245600 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy |
ORPHA:268 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased... |
OMIM:242840 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Degcags Syndrome |
|
Chronic kidney disease, Premature graying of hair, Hepatosplenomegaly, Ventricular septal defect,... |
OMIM:619488 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Hypopigmentation of the skin, G... |
OMIM:219800 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
| Fucosidosis |
|
Oligosacchariduria, Thick eyebrow, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria |
OMIM:230000 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Recurre... |
OMIM:607944 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... |
ORPHA:163746 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... |
OMIM:251260 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Highly arched eyebrow, Cardiomegaly |
OMIM:618143 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Bohring-Opitz Syndrome |
|
Urinary retention, Hypertrichosis, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholo... |
ORPHA:97297 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal heart morphology, Patent foramen ov... |
ORPHA:177907 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Abnormality of the urinary system, Ureteral stenosis, Ocular albinism, Hyp... |
ORPHA:2719 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Recurrent viral infections |
ORPHA:2959 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98794 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Micropenis, Hypopigmentation of hair, Hypopigmentation of the skin, Atrial septal defect |
ORPHA:398069 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... |
ORPHA:167 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Ure... |
ORPHA:818 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia... |
ORPHA:508533 |
| Williams Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial... |
ORPHA:904 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Micropenis, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Long eyelashes, Patent foramen ovale, Cardiomegaly, Synophrys |
OMIM:620371 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Dry hair, Recurrent urinary tract infections, Hyperechogenic kidneys, Dilatation o... |
OMIM:619991 |
| Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the nails, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Renal arter... |
ORPHA:3472 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Hypertrichosis, Splenomegaly, Cardiomegaly, Sparse axillary hair, Hype... |
OMIM:256040 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Abnormality of retinal pigmentation |
ORPHA:14 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:365 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Recurrent otitis media, Decreased proportion of naive T cells,... |
OMIM:619381 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
| Menkes Disease |
|
Bladder diverticulum, Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
| Aicardi-Goutières Syndrome |
|
Micropenis, Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:620376 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Cardiomegaly, Onycholy... |
OMIM:182250 |
