| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Epidermolytic Hyperkeratosis |
|
Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma |
OMIM:615024 |
| Pityriasis Rubra Pilaris |
|
Eczema, Pustule, Palmoplantar keratoderma, Subungual hyperkeratosis, Erythroderma, Pruritus |
ORPHA:2897 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma |
OMIM:133200 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer, Erythroderma |
ORPHA:312 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Erythroderma, White scaling skin, Palmoplantar keratoderma |
OMIM:604777 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Erythroderma, Palmoplantar keratoder... |
OMIM:612281 |
| Pemphigus Foliaceus |
|
Skin vesicle, Pruritus, Crusting erythematous dermatitis, Pustule, Scaling skin, Erythema, Erythr... |
ORPHA:79481 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus |
ORPHA:330064 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:602540 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis |
OMIM:608649 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Lamellar Ichthyosis |
|
Lack of skin elasticity, Erythroderma, Chronic otitis media, Hyperkeratosis, Dehydration, Pruritu... |
ORPHA:313 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Erythroderma, Orthokeratosis, Palmoplantar keratoderma, Recurrent skin infections, Acantholysis, ... |
OMIM:615508 |
| Ichthyosis With Confetti |
|
Scaling skin, Pruritus, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:609165 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... |
OMIM:619902 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Congenital Lethal Erythroderma |
|
Dry skin, Congenital exfoliative erythroderma |
ORPHA:1954 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Pruritus, Erythroderma |
OMIM:270300 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma |
ORPHA:79394 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Perioral erythema, Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Hydatidiform Mole |
|
Anemia, Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Bathing Suit Ichthyosis |
|
Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Parakeratosis, Erythroderma |
ORPHA:100976 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Erythema, Pruritus |
OMIM:617571 |
| Sézary Syndrome |
|
Edema, Palmoplantar keratoderma, Erythroderma, Pruritus, Dry skin |
ORPHA:3162 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Erythroderma |
OMIM:615023 |
| Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Palmar pr... |
ORPHA:498359 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Ulerythema Ophryogenesis |
|
Facial erythema, Hyperkeratotic papule, Contact dermatitis, Follicular hyperkeratosis, Dry skin, ... |
ORPHA:3406 |
| Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin |
ORPHA:157997 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:242300 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Hirsutism, ... |
ORPHA:90301 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Impotence, Glucose intolerance, Azoospermia, Hepatocellular carcinoma, Eleva... |
OMIM:235200 |
| Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Hyperkeratosis, Dry skin, Erythroderma |
OMIM:609180 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Erythroderma |
ORPHA:457 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Allergic rhinitis, Parakeratosis, Erythroderma, Angioedema |
OMIM:256500 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Hepatitis, Skin rash, Thyroiditis, Interst... |
ORPHA:139402 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
| Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... |
ORPHA:499 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
| Omenn Syndrome |
|
Thyroiditis, Edema, Erythroderma, Pruritus, Pneumonia, Dry skin |
ORPHA:39041 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Orthokeratosis, Parakeratosis, Scaling skin, Pruritus, Dry skin |
OMIM:618084 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
| Psoriasis 2 |
|
Parakeratosis, Scaling skin, Psoriasiform dermatitis, Hyperkeratosis |
OMIM:602723 |
| Netherton Syndrome |
|
Erythroderma, Skin rash, Eczema, Dehydration, Dry skin |
ORPHA:634 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... |
ORPHA:64745 |
| Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d... |
ORPHA:87503 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Acquired Ichthyosis |
|
Pruritus, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoderma, Dry skin |
ORPHA:454 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Recurrent pneumonia, Otitis media, Erythroderma, Pneumonia |
ORPHA:169160 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Dermatitis, Atopic |
|
Facial erythema, Conjunctivitis, Allergic rhinitis, Eczema, Pallor, Dry skin, Recurrent skin infe... |
OMIM:603165 |
| Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Pruritus, Peau d'orange, Erythroderma |
ORPHA:79456 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... |
OMIM:613313 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
| Aa Amyloidosis |
|
Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidn... |
ORPHA:85445 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Lymphedema, Membranoproliferative glomerulonephritis, Nonimmune hydrops feta... |
OMIM:137940 |
| Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Thyroiditis, Eczema, Scaling skin, Erythroderma, Psoriasiform dermatitis |
OMIM:606367 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... |
OMIM:617805 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Petechiae, Skin rash, Purpura, Ecchymosis, Colitis, Erythroderma, Infectious encephalitis, Maculo... |
ORPHA:540 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal dysplasia, Bicornuate uterus, Renal agenesis, Azoospermia, Ectopic kidney, Low posterior ha... |
ORPHA:2578 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... |
OMIM:615415 |
| Elastoderma |
|
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia... |
OMIM:137920 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... |
ORPHA:754 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... |
OMIM:194080 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Palmoplantar keratoderma, Erythroderma |
OMIM:242150 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypog... |
OMIM:602390 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema, Erythema |
OMIM:254400 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Arthritis, Eczema, Glomerulonephritis, Erythroderma |
OMIM:304790 |
| Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicornuate uterus... |
OMIM:608978 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Renal agenesis, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix m... |
ORPHA:3411 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperech... |
OMIM:613885 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Dermal translucency |
OMIM:619120 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
| Classic Mycosis Fungoides |
|
Skin rash, Skin ulcer, Eczema, Edema, Hyperkeratosis, Erythema, Pruritus, Dry skin |
ORPHA:2584 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Primary amenorrhea, Aplasia of the uterus, Elevated circulating follicl... |
OMIM:273250 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cry... |
OMIM:618280 |
| Pressure-Induced Localized Lipoatrophy |
|
Erythema, Inflammatory abnormality of the skin |
ORPHA:90160 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin skin, Dermal translucency, Cutis laxa, Excessive wrinkled skin |
OMIM:614438 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Sp... |
OMIM:271500 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer |
ORPHA:409 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Erythroderma |
ORPHA:169154 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| Bullous Impetigo |
|
Erythema, Recurrent bacterial skin infections, Septic arthritis, Pustule |
ORPHA:36237 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Dry skin, Erythroderma |
OMIM:601675 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Thin skin, Eczema, Inflammation of the large intestine, Erythroderma |
OMIM:615895 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Hyperglycemia, Infertility, Cholangiocarcinoma, Hepatocellular carcino... |
ORPHA:465508 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Renal malrotati... |
OMIM:601186 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Skin vesicle, Hyperkeratosis, Pruritus, Blepharitis |
ORPHA:254478 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Splenomegaly, Hypogonadism, Hepatomegaly |
OMIM:608540 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency |
OMIM:619115 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Blepharochalasis, Gingival hyperkeratosis, Dermal translucency |
OMIM:225410 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... |
OMIM:615363 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... |
OMIM:130650 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin, Edema, Erythema, Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hirsutism, Hepatome... |
OMIM:612526 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Erythroderma |
ORPHA:35173 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Hypothyroidism, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:93111 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
| Idiopathic Localized Lipodystrophy |
|
Scaling skin, Pruritus, Erythema, Inflammatory abnormality of the skin |
ORPHA:90158 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Esophagitis, Dermal translucency, Oligohydramnios |
ORPHA:541423 |
| Candidiasis, Familial, 8 |
|
Cheilitis, Chronic oral candidiasis, Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Neph... |
OMIM:194072 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Synophrys, Hypertrophic cardiomyopathy, Hirsutism, Bone marrow hypocellula... |
OMIM:617303 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gl... |
ORPHA:417 |
| H Syndrome |
|
Alopecia, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, Enlarged kidney, ... |
ORPHA:168569 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid ... |
OMIM:616860 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Nephrotic syndrome, Left ventricular hypertrophy, Elevated hepatic transaminase, ... |
OMIM:617713 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Decreased fertility, Multicystic kidney dysplasi... |
ORPHA:2970 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Rheumatoid arthritis, Erythema, Inflammatory abnormality of the skin |
ORPHA:79099 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Impotence, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, H... |
OMIM:606069 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
| Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... |
ORPHA:858 |
| Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Sparse b... |
ORPHA:90796 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... |
ORPHA:2237 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splen... |
OMIM:269920 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypopl... |
OMIM:601076 |
| Caudal Duplication |
|
Renal hypoplasia/aplasia, Cryptorchidism, Uterus didelphys, Ureteral duplication, Abnormal penis ... |
ORPHA:1756 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglyce... |
OMIM:232220 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Renal dysplasia, Nephrotic syndrome, Unilateral renal dysplasia, Nephrocalcinosis, Hematuria, Dis... |
OMIM:146255 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Inflammatory abnormality of the skin, Arthritis, Eczema, Pallor, Pleural effusion, Ch... |
ORPHA:3260 |
| Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Hepatic failure, Renal insufficiency, Renal Fanconi syndrome, Enlarged kidney,... |
OMIM:276700 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hydronephrosis, Elevated circulating alanine aminotransferase concentration, Renal dysplasia, Enl... |
OMIM:608836 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Splenomegaly, Cirrhosis, Secondary amenorrhea, Oligomenorrhea, Maternal diabe... |
ORPHA:79083 |
| Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Bronchiectasis, Allergic rhinitis, Cutaneous abscess, Chronic muco... |
OMIM:618131 |
| Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
| De Barsy Syndrome |
|
Thin skin, Dermal translucency, Cutis laxa, Excessive wrinkled skin |
ORPHA:2962 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Sparse body hair, Primary amenorrhea, Impotence, Secondary amenorrhea, Decre... |
ORPHA:432 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Edema, Erythroderma |
OMIM:302960 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... |
ORPHA:247768 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Scaling skin, Palmoplantar keratoderma, Hyperkeratosis, Pruritus |
ORPHA:166113 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, As... |
ORPHA:1046 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatoc... |
ORPHA:370 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Frontotemporal hypertrichosis, Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasi... |
OMIM:263210 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatomegaly, Ca... |
OMIM:600649 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Webbed neck, Thin skin, Dermal translucency |
OMIM:617506 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Premature ovarian insufficiency, Lymphadenopathy, Hepatomegaly, Ascites, Spleno... |
ORPHA:100025 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Dermal translucency |
OMIM:615349 |
| Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231222 |
| Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormalit... |
ORPHA:2470 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Priapism, Jaundice, Splenic infarct... |
OMIM:603903 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Bicornuate uterus, Widow's peak, Abnormality of the uterus, Proteinuria |
ORPHA:2143 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma |
OMIM:617425 |
| Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... |
ORPHA:848 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Hepatic failure, Ventricular septal defect, Pul... |
ORPHA:1655 |
| Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, A... |
ORPHA:65681 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hyd... |
OMIM:222300 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Perioral hyperker... |
OMIM:619208 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Alopecia, Ne... |
OMIM:615559 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... |
ORPHA:615 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Insulin resistance, Hepatic steatosis, Hypert... |
ORPHA:2348 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Labial hypertrophy... |
ORPHA:508 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... |
OMIM:252920 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thin skin, Dermal translucency |
OMIM:612199 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Dextrocardia, Transposition of ... |
OMIM:314390 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... |
OMIM:614129 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
| Meacham Syndrome |
|
Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d... |
ORPHA:3097 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglycemia, Delayed p... |
OMIM:232200 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Renal duplication, Bifid scrotum, Renal agenesis, Hyp... |
ORPHA:83628 |
| Meige Disease |
|
Recurrent bacterial skin infections, Pedal edema, Lymphedema, Edema of the dorsum of hands, Predo... |
ORPHA:90186 |
| Attrv30M Amyloidosis |
|
Impotence, Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Mitral valve prolapse, Uni... |
OMIM:606408 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Bone-... |
OMIM:256550 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Adrena... |
OMIM:619151 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin, Dermal translucency, Oligohydramnios |
ORPHA:536467 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... |
OMIM:619868 |
| Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
| Protoporphyria, Erythropoietic, 1 |
|
Edema, Pruritus, Eczema, Erythema |
OMIM:177000 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Scaling skin, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholys... |
OMIM:616295 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Generalized hirsutism, Abnormal heart val... |
ORPHA:93476 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Eczema, Palmoplantar keratoderma, Dry skin, Blepharitis |
OMIM:618535 |
| Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Alopecia universalis, Abnormality of the uterus, Hypoplasia of the ovar... |
ORPHA:3130 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... |
ORPHA:90970 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Palmoplantar hyperkeratosis, Redundant skin, Erythema, Eczematoid dermatitis, Seborrhe... |
OMIM:259100 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Synophrys, ... |
OMIM:606003 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Impaired glucose tolerance, Glucose... |
OMIM:615630 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Conjunctivitis, Folliculitis, Keratitis, Palmoplantar keratoderma, Follicular hy... |
OMIM:308800 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Male sexual dysfunction, Bifid uterus, Abnormalit... |
ORPHA:322 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
| Cutaneous Collagenous Vasculopathy |
|
Erythema, Skin rash, Pruritus, Petechiae |
ORPHA:280779 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia, Nail ... |
OMIM:613987 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dermal translucency |
OMIM:618343 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatoce... |
ORPHA:79259 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Duplication Of Urethra |
|
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... |
ORPHA:237 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Synophrys, Long eyelashes, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failur... |
ORPHA:158057 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Erythroderma, Hydromyelia, Eczema, Oligohydramnios, Scaling skin, Subungual hy... |
OMIM:308205 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... |
ORPHA:59303 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, Abnormality of the... |
ORPHA:276280 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Bilateral renal agenesis, Bicornuate uterus, Vaginal atresia, Primary amenorrhea... |
OMIM:191830 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Splenomegaly, Retroperitoneal fibrosis, Ventricular septal defect, Decreas... |
OMIM:602782 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Adrenal calcification, Splenomegaly |
ORPHA:75234 |
| Trichothiodystrophy |
|
Conjunctivitis, Keratoconjunctivitis sicca, Eczema, Dry skin, Congenital exfoliative erythroderma |
ORPHA:33364 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Periportal fibrosis, Ventricular septal defect, Bicornuate uterus, Per... |
ORPHA:79328 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatocellular aden... |
ORPHA:264580 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Palmoplantar hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Subu... |
OMIM:300918 |
| Iga Pemphigus |
|
Skin vesicle, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis, Pustu... |
ORPHA:555905 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
| Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis, Pallor |
OMIM:246400 |
| Barber-Say Syndrome |
|
Redundant skin, Premature skin wrinkling, Dry skin, Dermal translucency |
OMIM:209885 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Bicornuate uterus, Recurrent urinary tract infe... |
ORPHA:2438 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetr... |
OMIM:601005 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma |
OMIM:615821 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Erythema, Psoriasiform dermatitis |
OMIM:614204 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Bicornuate uterus, Renal agenesis, Atrial septal defect, Dextrocardia,... |
OMIM:264480 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... |
OMIM:278000 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Autosomal Dominant Cutis Laxa |
|
Cutis laxa, Dermal translucency, Bronchiectasis, Premature skin wrinkling, Pyelonephritis, Redund... |
ORPHA:90348 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Nonketotic hypoglyc... |
OMIM:201475 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Gonadoblastoma, Neonatal hypoglycemia, Hepatoblastoma, Hypertrophic cardiomyopath... |
ORPHA:116 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... |
OMIM:154230 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Restrictive Dermopathy |
|
Polyhydramnios, Webbed neck, Dermal translucency, Epidermal hyperkeratosis, Scaling skin, General... |
ORPHA:1662 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Mogs-Cdg |
|
Alopecia, Hypothyroidism, External genital hypoplasia, Fair hair, Left ventricular hypertrophy, H... |
ORPHA:79330 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
| Beaulieu-Boycott-Innes Syndrome |
|
High anterior hairline, Ventricular septal defect, Recurrent urinary tract infections, Premature ... |
OMIM:613680 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hypoglycemia, Aminoaciduria, Splenomegaly |
ORPHA:664 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Elevated hepatic transaminase, Ovarian cyst, Unicornuate uterus, Multi... |
OMIM:614527 |
| Mosaic Trisomy 9 |
|
Abnormal fallopian tube morphology, Asplenia, Abnormal liver lobulation, Hydronephrosis, Ventricu... |
ORPHA:99776 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Portal hyperte... |
OMIM:616589 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Patent foramen ovale, Thick hair, Nephrotic syndrome, Enlarged kidney, Long e... |
ORPHA:505248 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Hep... |
ORPHA:42 |
| Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Type I diabetes mellitus, Atrial septal defect, Hepa... |
ORPHA:290 |
| Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki... |
OMIM:617914 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Scaling skin, Erythema, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Omodysplasia 2 |
|
Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Dyspareunia, Cryptorchidism, Uterus didelphy... |
OMIM:164745 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resista... |
OMIM:269700 |
| Mulibrey Nanism |
|
Nephroblastoma, Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites |
OMIM:253250 |
| Pagod Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/a... |
ORPHA:991 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... |
ORPHA:243 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Ketotic hypo... |
ORPHA:79240 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst |
OMIM:618188 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe k... |
OMIM:608022 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectop... |
OMIM:300707 |
| Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
High anterior hairline, Perimembranous ventricular septal defect, Recurrent urinary tract infecti... |
ORPHA:363444 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... |
OMIM:258040 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Hepatitis... |
OMIM:614921 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Bicornuate uterus, Shawl scrotum, Widow's peak, Hydrocele testis, Atri... |
OMIM:145420 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Dermal translucency, Cutis laxa, Oligohydramnios |
OMIM:614437 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly, Ascites |
OMIM:614702 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
| Fontaine Progeroid Syndrome |
|
Recurrent aspiration pneumonia, Dermal translucency, Premature skin wrinkling, Oligohydramnios, R... |
OMIM:612289 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated... |
OMIM:613673 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperinsulinemia, Abnormal spermatogenesis, Aplasia/Hypoplasia of the eyebrow, Decrease... |
ORPHA:3464 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Alopecia, Hepatic fibrosis, Hepatic failure, Sparse eyebrow, Sclero... |
OMIM:607626 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of t... |
OMIM:616258 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... |
OMIM:618892 |
| Endocrine-Cerebroosteodysplasia |
|
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... |
OMIM:612651 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Vesicoureteral reflux, Abnormal cardiac septum morphology, Bicornuate uterus, Lab... |
ORPHA:140952 |
| Microsporidiosis |
|
Lymphadenitis, Abnormal fallopian tube morphology, Endocarditis, Myocarditis, Decreased proportio... |
ORPHA:2552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomeg... |
ORPHA:79312 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Nail dystrophy, Pure red cell apl... |
OMIM:618165 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Hepatic failure, Polycystic kidney dyspla... |
ORPHA:228308 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Type I diabetes m... |
ORPHA:1133 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
| Liver Disease, Severe Congenital |
|
Pulmonary edema, Dermal translucency, Peritonitis, Eczema, Recurrent otitis media, Chronic gastri... |
OMIM:619991 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... |
ORPHA:411709 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Neonatal hypoglycemia, Hypertrophic cardiomyopathy, Bivent... |
OMIM:261740 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Hirsutism, Thrombocytopenia, Fasting hyperinsul... |
ORPHA:2298 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Jaundice, Abnormal... |
ORPHA:381 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... |
OMIM:609981 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231226 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Delayed pub... |
ORPHA:251004 |
| Vacterl/Vater Association |
|
Hydronephrosis, Ambiguous genitalia, Abnormality of the pancreas, Multicystic kidney dysplasia, A... |
ORPHA:887 |
| Pachydermoperiostosis |
|
Osteomyelitis, Arthritis, Edema, Joint swelling, Eczematoid dermatitis, Palmoplantar keratoderma,... |
ORPHA:2796 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin skin, Dermal translucency, Synovitis, Premature skin wrinkling, Recurrent otitis media, Recu... |
ORPHA:3455 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Jaundice, Pancytopenia, Hypopigmentation of hair, Lymphadenopathy, Hem... |
ORPHA:79477 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Skin vesicle, Hyperkeratosis, Erythema |
ORPHA:2841 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Dermal translucency |
OMIM:619329 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Global glomerulosclerosis, Thrombocytopenia, Patent foramen ovale,... |
OMIM:300855 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A... |
ORPHA:3109 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruc... |
OMIM:140000 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:607936 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:614851 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
| Fanconi Anemia |
|
Abnormal testis morphology, Abnormal cardiac septum morphology, Hypertrophic cardiomyopathy, Abno... |
ORPHA:84 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Frontal upsweep of hair, Hypoplastic labia majora, Unilateral renal agenesis, Cli... |
OMIM:618419 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Abnormality of the kidney, Axial malrotation of the kidney, A... |
ORPHA:3320 |
| Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... |
ORPHA:53035 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... |
OMIM:618886 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231214 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... |
OMIM:235255 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Hematuria, Pancytopenia, Bili... |
ORPHA:77259 |
| Wolman Disease |
|
Anemia, Hepatic failure, Adrenal insufficiency, Adrenal calcification, Bone-marrow foam cells, He... |
ORPHA:75233 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:604117 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Abnormality of the menstru... |
ORPHA:905 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad... |
OMIM:618495 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Labi... |
ORPHA:96191 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Patchy alopecia, N... |
OMIM:615387 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Low anterior hairline, Renal agenesis, Mucopolysacchariduria, Hepatomegaly, Crypt... |
OMIM:618440 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Bicornua... |
ORPHA:2059 |
| Okamoto Syndrome |
|
Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ... |
ORPHA:2729 |
| Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis... |
ORPHA:79395 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... |
OMIM:216360 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Ascites, Micro... |
OMIM:616897 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Coarse hair, Splenomegaly |
OMIM:605309 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Hepatomegaly, Splenomegaly, Hepatic fib... |
ORPHA:84064 |
| Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Dermal translucency |
OMIM:609192 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Biotinidase Deficiency |
|
Conjunctivitis, Skin rash, Seborrheic dermatitis, Recurrent skin infections |
OMIM:253260 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis |
OMIM:613091 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Long eyela... |
OMIM:239850 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Patent foramen ovale, Ventricular septal defect, Bicornu... |
OMIM:265380 |
| Opitz Gbbb Syndrome |
|
Patent foramen ovale, Abnormality of the urinary system, Vesicoureteral reflux, Ventricular septa... |
ORPHA:2745 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Dystrophic toenail, Hypersplenism, Pulmonic stenosis, Portal vein thrombosi... |
OMIM:616028 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Alopecia of scalp, Hepatomegaly, Decreased serum testost... |
OMIM:201100 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy... |
ORPHA:91138 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydronephrosis, Bicornuate uterus, Hydroureter, Hypoplastic labia minora, Hypoplastic labia major... |
OMIM:269150 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... |
ORPHA:85451 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Hep... |
OMIM:252900 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Azoospermia, Hypoplasia of penis, Atrial s... |
ORPHA:251066 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly |
ORPHA:79128 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysacchariduria... |
OMIM:252500 |
| Adult-Onset Still Disease |
|
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Pericarditis... |
ORPHA:829 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... |
OMIM:235555 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
| Fryns Syndrome |
|
Ventricular septal defect, Bicornuate uterus, Bifid scrotum, Shawl scrotum, Polysplenia, Renal ag... |
OMIM:229850 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Decreased response to growth hormone stimulation test, Renal malrotation, Long... |
OMIM:615866 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatome... |
OMIM:270400 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
| Ulnar-Mammary Syndrome |
|
Decreased fertility, Ventricular septal defect, Hypoplasia of penis, Breast aplasia, Abnormality ... |
ORPHA:3138 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus, Single... |
OMIM:619879 |
| Loeys-Dietz Syndrome 2 |
|
Striae distensae, Eosinophilic infiltration of the esophagus, Dermal translucency |
OMIM:610168 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Dark yellow urine, Jaundice,... |
ORPHA:30391 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Premature graying of hair, Secondary amenorrhea, Insulin resistance, Hepatic steato... |
ORPHA:280365 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria, Ventricular septal defect, Bicornuate uterus |
OMIM:222448 |
| Fucosidosis |
|
Hypothyroidism, Abnormality of the gallbladder, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
| Cirrhotic Cardiomyopathy |
|
Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom... |
ORPHA:57777 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
| Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
| Chops Syndrome |
|
Patent foramen ovale, Vesicoureteral reflux, Curly hair, Ventricular septal defect, Coarse hair, ... |
OMIM:616368 |
| Dyskeratosis Congenita |
|
Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Bone marrow hypo... |
ORPHA:1775 |
| Sandhoff Disease |
|
Urinary incontinence, Impotence, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... |
ORPHA:391428 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Hypospadias, Hypopl... |
OMIM:309801 |
| Trichohepatoenteric Syndrome 1 |
|
Galactosuria, Hepatomegaly, Renal cortical microcysts, Sparse hair, Splenomegaly, Hepatic fibrosi... |
OMIM:222470 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent urinary tract infections, Pulmonic stenos... |
OMIM:612541 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... |
OMIM:301068 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... |
ORPHA:2137 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... |
OMIM:110100 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Hepatoblastoma, Duplication of renal pelvis, Hepatomegaly, Splenomegaly, Ne... |
OMIM:312870 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defec... |
OMIM:619418 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Loeys-Dietz Syndrome 3 |
|
Striae distensae, Eosinophilic infiltration of the esophagus, Hip osteoarthritis, Dermal transluc... |
OMIM:613795 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... |
ORPHA:158061 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
| Refsum Disease, Classic |
|
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy |
OMIM:266500 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Thick eyebrow, Vacuolated lympho... |
OMIM:230000 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
| Glycogen Storage Disease Xii |
|
Anemia, Elevated circulating alanine aminotransferase concentration, Normocytic anemia, Jaundice,... |
OMIM:611881 |
| Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Vascular Ehlers-Danlos Syndrome |
|
Thin skin, Periodontitis, Dermal translucency, Redundant skin, Osteoarthritis, Excessive wrinkled... |
ORPHA:286 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Low posterior hairline, Septate vagin... |
OMIM:617925 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Sac... |
ORPHA:363705 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Widow's peak, Decreased serum testosterone concentration... |
OMIM:305400 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatic failure, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopeni... |
OMIM:608013 |
| Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Ventricular septal defect, Bifid uterus, Hypospadias, Complete atrioventricular c... |
OMIM:236680 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
| Helsmoortel-Van Der Aa Syndrome |
|
High anterior hairline, Enuresis nocturna, Decreased response to growth hormone stimulation test,... |
OMIM:615873 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Periodontitis, Dermal translucency, Ecchymosis |
OMIM:130050 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Chronic neutropenia, Abnormal right ventricle morphology, Bifid ureter, Ventricul... |
ORPHA:500095 |
| Acro-Renal-Mandibular Syndrome |
|
Renal hypoplasia/aplasia, Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Acute pancr... |
OMIM:618935 |
| Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Testicular atrophy, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Familial Mediterranean Fever |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis, Neutrophilia, Pericarditis... |
OMIM:249100 |
| Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Lacticacid... |
ORPHA:699 |
| Bartsocas-Papas Syndrome 1 |
|
Patent foramen ovale, Ambiguous genitalia, Alopecia, Sparse scalp hair, Bicornuate uterus, Absent... |
OMIM:263650 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
| Q Fever |
|
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Abnormal heart v... |
ORPHA:781 |
| Currarino Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Bicornuate uterus, Neurogenic bladder, Recurrent uri... |
OMIM:176450 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Highly arched eyebrow, Hepatomegaly, Cryptorchidism |
OMIM:618143 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Hypoplasia of the bladder, Ambiguous genitalia, female, Abnormal cardiac septum morphol... |
OMIM:249000 |
| Fraser Syndrome 1 |
|
Bicornuate uterus, Renal hypoplasia/aplasia, Absent eyelashes, Abnormality of the thymus, Vaginal... |
OMIM:219000 |
| Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Hypothyroidism, Multicystic kidney dysplasia, Renal insufficiency, Ventric... |
OMIM:107480 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Renal agenesis, Absent nipple... |
OMIM:200980 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Atrioventricular canal defect, Anemia, Vesicoureteral reflux, Ventricular septa... |
OMIM:274000 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... |
OMIM:601214 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy |
OMIM:619259 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Renal cyst, Polycystic ovaries, Hypoglycemia, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
| Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... |
OMIM:300972 |
| Cantú Syndrome |
|
Long eyelashes, Hypertrophic cardiomyopathy, Low posterior hairline, Curly eyelashes, Cardiomegal... |
ORPHA:1517 |
| Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hypoparathyroidism... |
OMIM:277900 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Diabetes mellitus, Hep... |
ORPHA:565612 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Low ... |
ORPHA:1521 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Brittle hair, Sideroblastic anemia, Hypochromic microcytic anem... |
OMIM:616084 |
| Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Familial Mediterranean Fever |
|
Splenomegaly, Nephrotic syndrome, Nephrocalcinosis, Pericarditis, Lymphadenopathy, Nephropathy, P... |
ORPHA:342 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis |
OMIM:210210 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Hyperphosphaturia, Elevated circulating parathyroid hormone level, Polyuri... |
OMIM:239200 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Anemia, Pericardial effusion, Abnormal heart valve morphology, Hematu... |
ORPHA:77261 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Hypert... |
ORPHA:308552 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... |
OMIM:618820 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, Abnormality of the uterus, Whi... |
ORPHA:3440 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Renal artery aneurysm, Elevated hepatic transaminase, Dilated cardiomyopathy,... |
OMIM:615688 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Premature... |
OMIM:256040 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Thick hair, Abnormal mitral valve morphology, Synophrys, Abno... |
ORPHA:581 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplasi... |
ORPHA:2052 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Medial flaring of the eyebrow, Synophrys, Thyroid hypoplasia, Hepato... |
OMIM:619503 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo... |
OMIM:614083 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Hyperphosphaturia, Hepatomegaly, Low-molecular-weight proteinuria, Nephrolithiasis... |
OMIM:219800 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Sparse lateral eyebrow, Ventricular septal defect, Anterior pituitary hypoplas... |
OMIM:181450 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Synophrys, Abnormality of the thymus, Hirsutism, Low posterior hairline, Cardiomegaly |
ORPHA:2463 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Absent eyebrow, Congenital alopecia totalis, Cardiomegaly, Cardiom... |
ORPHA:158687 |
| Brucellosis |
|
Endocarditis, Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Abnorma... |
ORPHA:1304 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... |
OMIM:271520 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Aicardi-Goutières Syndrome |
|
Hypothyroidism, Chronic lymphatic leukemia, Elevated hepatic transaminase, Hepatosplenomegaly, Hy... |
ORPHA:51 |
| Townes-Brocks Syndrome |
|
Hypothyroidism, Abnormal cardiac septum morphology, Abnormal vagina morphology, Vesicoureteral re... |
ORPHA:857 |
| Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Hydronephrosis, Multicystic kidney dysplasia, Ventricular septal defect, Hydroure... |
ORPHA:373 |
| Lymphatic Malformation 6 |
|
Hypothyroidism, Hydrocele testis, Atrial septal defect, Ascites, Splenomegaly, Intestinal lymphan... |
OMIM:616843 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Seborrh... |
ORPHA:83617 |
| 22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Hypoparathyroidism, Abnormality of ... |
ORPHA:567 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ascites, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus, Renal hypoplasia/aplasia |
ORPHA:1788 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydronephrosis, Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Cry... |
ORPHA:93271 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
| Steinert Myotonic Dystrophy |
|
Decreased fertility, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation... |
ORPHA:273 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus, Abnormal renal morphology |
ORPHA:59315 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splen... |
ORPHA:30 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Enlarged labia minora, Bicornuate uterus, Polycystic kidney dysplasia,... |
OMIM:268300 |
| Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Reticulocytos... |
ORPHA:14 |
| Monosomy 22 |
|
Joint swelling, Seborrheic dermatitis |
ORPHA:96123 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu... |
OMIM:300967 |
| Porphyria, Congenital Erythropoietic |
|
Alopecia, Hemolytic anemia, Red urine, Jaundice, Pink urine, Hypertrichosis, Absent eyebrow, Hepa... |
OMIM:263700 |
| Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Absent eyelashes, Renal agenesis, Bifid uterus, ... |
OMIM:256520 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Atrioventricular canal defect, Hydrometrocolpos, Vaginal atresia, Horseshoe kidney, Hepatomegaly,... |
OMIM:617088 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Eczema, Seborrheic dermatitis |
ORPHA:369950 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Bilobate gallbladder, Ventricular septal defect, Hypoplasia of the vagina, Hypopl... |
OMIM:261540 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Hypopigmentation of hair, H... |
ORPHA:163746 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Bicornuate uterus, Absent lower eyelashes, Unilateral renal agenesis, ... |
OMIM:154400 |
| 7Q11.23 Microduplication Syndrome |
|
Horizontal eyebrow, Enuresis, Ventricular septal defect, Sparse anterior scalp hair, Unilateral r... |
ORPHA:96121 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Synophrys, Hypertrichosis,... |
ORPHA:97297 |
| Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Abnormal c... |
ORPHA:904 |
| Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema |
ORPHA:316 |
| Peters Plus Syndrome |
|
Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Abnormal cardiac septum morpholo... |
ORPHA:709 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Abnormality of the hepatic vasculature, Hepatomegaly, Cardiomegaly, Rig... |
ORPHA:1677 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Patent foramen ovale, Anemia, Precocious puberty, Vesicour... |
ORPHA:438213 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Menorrhagia, Thrombocytopenia, Increased mean pla... |
OMIM:153670 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Ventricular septal defect, Biliary tract abnormality, Atrial septal defect, A... |
OMIM:194190 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Abnormal hair whorl |
ORPHA:457284 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Hydrops fetalis, Seborrheic dermatitis |
OMIM:300868 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, A... |
ORPHA:77293 |
| Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the ute... |
ORPHA:69085 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Lumbosacral hirsutism, Sparse scalp hair, Ventricular septal defect, Hydroureter, Long ... |
OMIM:135900 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria |
ORPHA:268 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
| Yunis-Varon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Ventricular septal defect, Hypoplastic labia majora, Atrial se... |
ORPHA:3472 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun... |
OMIM:619534 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Synophrys, Ectopic kidney, Testicular atrophy, Hypospadias, Abnormality of the Le... |
ORPHA:3063 |
| Alström Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Myocardial fi... |
ORPHA:64 |
| Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, ... |
OMIM:188400 |
| Cowden Syndrome |
|
Enlarged polycystic ovaries, Adenoma sebaceum, Renal cell carcinoma, Abnormality of the kidney, A... |
ORPHA:201 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Bicornuate uterus, Lacrimal gland aplasia, Abnormal salivary gland morphol... |
ORPHA:2363 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Aplasia of the sweat glands, Hepatomegaly, Sparse hair, Splenomegaly |
OMIM:612132 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ... |
ORPHA:672 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Cornelia De Lange Syndrome |
|
Synophrys, Hypoplastic labia majora, Primary amenorrhea, Thick eyebrow, Vesicoureteral reflux, Mu... |
ORPHA:199 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Uterine prolapse |
OMIM:123700 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Hypert... |
ORPHA:365 |
| Norrie Disease |
|
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism |
ORPHA:649 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Nephrocalcinosis, Hyperp... |
ORPHA:51608 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Abnormality of bladder morphology, Abnormal heart morphology, Uteri... |
ORPHA:284984 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... |
OMIM:276820 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Mitral valve prolapse, Bladder diverticulum, Uterine prolapse, Tricuspid ... |
ORPHA:287 |
| Pallister-Killian Syndrome |
|
Sparse eyebrow, Alopecia, Sparse scalp hair, Ventricular septal defect, Renal dysplasia, Labial h... |
OMIM:601803 |
| Coffin-Lowry Syndrome |
|
Coarse hair, Thick eyebrow, Highly arched eyebrow, Uterine prolapse |
OMIM:303600 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, High anterior hairline, Aortic valve stenosis, Cardiomegaly, Aortic ... |
OMIM:182250 |
