| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Epidermal acanthosis, Alopecia of scalp, Absent pubic hair, Dry skin, Cutis laxa, S... |
ORPHA:2269 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Peeling Skin Syndrome 3 |
|
White scaling skin, Erythema, Abnormal hair morphology |
OMIM:616265 |
| Idiopathic Localized Lipodystrophy |
|
Scaling skin, Lipoatrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Eryt... |
ORPHA:90158 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Scaling skin, Palmoplantar scaling skin, Dry skin, Decreased movement range in interphalangeal jo... |
ORPHA:530838 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis, Abnormal hair morphology |
OMIM:612908 |
| Centrifugal Lipodystrophy |
|
Scaling skin, Lipoatrophy, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, ... |
ORPHA:90156 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Squalene Synthase Deficiency |
|
Elevated urinary mevalonate lactone level, Hypospadias, Increased circulating farnesol concentrat... |
OMIM:618156 |
| Hypotrichosis Simplex Of The Scalp |
|
Scaling skin, Slow-growing scalp hair, Epidermal acanthosis, Alopecia of scalp, Sparse scalp hair... |
ORPHA:90368 |
| Peeling Skin Syndrome 5 |
|
Scaling skin, Epidermal acanthosis |
OMIM:617115 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevat... |
OMIM:266510 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Flexion contracture, Dry skin |
OMIM:612952 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... |
OMIM:615382 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Scarring alopecia of scalp, Epiphyseal stippling, Anterior rib punctate calcificati... |
ORPHA:35173 |
| Immunodeficiency, Common Variable, 6 |
|
Purpura, Hepatomegaly, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex dep... |
OMIM:613496 |
| Bathing Suit Ichthyosis |
|
Scaling skin, Epidermal acanthosis, Nail dystrophy, Sparse hair, Multiple joint contractures, Alo... |
ORPHA:100976 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin |
OMIM:105250 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Decreased LDL ch... |
OMIM:616834 |
| Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Acute kidney injury, Exercise-induced myoglobinuria, Psoriasiform lesion, Elevated ... |
ORPHA:284426 |
| Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Renal cortical cysts, Dry skin, Failure to thrive, Ataxia, Flexion contracture |
OMIM:609180 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema |
OMIM:617571 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent... |
OMIM:604536 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Failure to... |
OMIM:608776 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Failure to thrive, Palm... |
OMIM:605676 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Abnormal renal morphology, Patent foramen ovale, Failure to thrive, Hypocho... |
OMIM:610883 |
| Proteus Syndrome |
|
Epidermal acanthosis, Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosi... |
OMIM:176920 |
| Psoriasis 2 |
|
Scaling skin, Epidermal acanthosis, Psoriasiform dermatitis |
OMIM:602723 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Inguinal hernia, Dry skin, Joint contracture, Erythema |
OMIM:614457 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
| Nephronophthisis 2 |
|
Hyperkalemia, Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstiti... |
OMIM:602088 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Long eyelashes, Synophrys, Cardiomegaly, Failure to thrive in infa... |
OMIM:619064 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Bazex Syndrome |
|
Scaling skin, Nail dystrophy, Yellow nails, Liposarcoma |
ORPHA:166113 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Nephrotic syndrome, Failure to thrive, Splenomegaly, Conjugated hyperbi... |
OMIM:269920 |
| Porphyria Cutanea Tarda |
|
Scaling skin, Scarring, Increased urinary porphobilinogen, Decreased circulating hepcidin concent... |
ORPHA:101330 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Ichthyosis With Erythrokeratoderma |
|
Scaling skin, Leukonychia, Epidermal acanthosis, Erythema |
OMIM:620507 |
| Graft Versus Host Disease |
|
Scaling skin, Limited elbow movement, Dupuytren contracture, Hyperbilirubinemia, Arthritis, Failu... |
ORPHA:39812 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Renal cyst, Hepatosplen... |
OMIM:619902 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemi... |
OMIM:607765 |
| Ichthyosis With Confetti |
|
Scaling skin, Hypoplastic nipples, Decreased body weight, Hypertrichosis |
OMIM:609165 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Limited elbow movement, Difficulty walking, Ventricular hypertrophy, Car... |
OMIM:300280 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Epidermal acanthosis |
OMIM:113800 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Inability to walk, Hirsutism, Low posterior hairline, Synophrys, L... |
OMIM:617303 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Patchy alopecia, Cellulitis, Hepatosplenomegaly, Failure to thrive in infancy, Psor... |
OMIM:606367 |
| Bacterial Toxic-Shock Syndrome |
|
Scaling skin, Myocarditis, Fasciitis, Hypocalcemia, Arthritis, Recurrent urinary tract infections... |
ORPHA:36234 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Epidermal acanthosis, Nail dystrophy |
OMIM:607936 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Proximal tu... |
OMIM:212065 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Hypocholesterolemia, Mic... |
OMIM:618810 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology |
ORPHA:79147 |
| Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Lack of skin elasticity, Erythema |
ORPHA:281127 |
| Recon Progeroid Syndrome |
|
Scaling skin, Hirsutism, Dry skin, Thin skin, Joint hypermobility, Absent lower eyelashes |
OMIM:620370 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Scaling skin, Erythema, Abnormal hair morphology |
OMIM:607602 |
| Cutaneous Mastocytoma |
|
Scaling skin, Erythema |
ORPHA:79455 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma |
OMIM:618272 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Hirsutism, Reduced s... |
OMIM:612526 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Inguinal hernia, Tracheomalacia, Webbed neck, ... |
OMIM:608022 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Camptodactyly, Abnormal eyebrow... |
ORPHA:168569 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Aortic valve st... |
OMIM:616298 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Epidermal acanthosis, Leukonychia, Dry skin, Acantholysis |
OMIM:616295 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration... |
ORPHA:42 |
| Mpdu1-Cdg |
|
Scaling skin, Renal cortical cysts, Elevated circulating creatine kinase concentration |
ORPHA:79323 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:613885 |
| Abetalipoproteinemia |
|
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatomegaly, Steppage gait, Hy... |
ORPHA:14 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopath... |
OMIM:212140 |
| Pemphigus Foliaceus |
|
Scaling skin, Skin vesicle, Acantholysis, Psoriasiform dermatitis, Erythema |
ORPHA:79481 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Dense calvaria, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Joint stiffnes... |
OMIM:252920 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Alopecia |
OMIM:618373 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Scaling skin, Absent hair, Nail dystrophy, Facial erythema, Trichorrhexis nodosa, Dry skin, Spars... |
ORPHA:1010 |
| Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Atrophic scars, Erythema |
ORPHA:79100 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia, Sparse hair |
OMIM:613576 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... |
OMIM:604387 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obesity, Hyper... |
ORPHA:251004 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Scaling skin, Limited elbow extension, Unilateral renal agenesis, Highly arched eyebrow, Dry skin... |
OMIM:618419 |
| Alg12-Cdg |
|
Abnormal bone ossification, Muscular ventricular septal defect, Hypospadias, Abnormal adipose tis... |
ORPHA:79324 |
| Kid Syndrome |
|
Scaling skin, Epidermal acanthosis, Nail dystrophy, Delayed pubic bone ossification, Scarring alo... |
ORPHA:477 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Scaling skin, Cutis laxa, Joint hypermobility, Tip-toe gait, Medial flaring of the eyebrow, Trans... |
OMIM:619503 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Inability to walk, Thick hair, Heavy proteinuria, Patent foramen ovale, Hypertro... |
ORPHA:505248 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Alopecia |
ORPHA:79395 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopath... |
OMIM:619051 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... |
OMIM:232200 |
| Craniofaciofrontodigital Syndrome |
|
Cutis laxa, Aortic valve stenosis, Bicuspid aortic valve, Cardiomegaly, Joint hypermobility, Hern... |
ORPHA:363705 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Scaling skin, Slow-growing scalp hair, Horizontal eyebrow, Left ventricular hypertrophy, Psoriasi... |
ORPHA:294023 |
| Basan Syndrome |
|
Epidermal acanthosis, Nail dystrophy, Flexion contracture of digit |
OMIM:129200 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Scaling skin, Erythema |
OMIM:620148 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Epidermal acanthosis, Dry skin |
OMIM:612281 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Cardiomyopathy, Urinary excretion of sialyla... |
OMIM:256550 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal renal physiology, Weight loss, Cardiomegaly, Nephropathy |
ORPHA:85447 |
| Restrictive Dermopathy |
|
Scaling skin, Osteopenia, Transposition of the great arteries, Ureteral duplication, Sparse or ab... |
ORPHA:1662 |
| Cantu Syndrome |
|
Large for gestational age, Bicuspid aortic valve, Cardiomegaly, Curly eyelashes, Osteoporosis, Lo... |
OMIM:239850 |
| Peeling Skin Syndrome 6 |
|
Scaling skin, Dry skin |
OMIM:618084 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia |
OMIM:619170 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Hypospadias, Webbed neck, Decreased skull ossification, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Tip-toe gait, Enlarged kidney, Hepatomegaly, Pathologic fracture, Inguinal hernia, Br... |
OMIM:252500 |
| Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Hepatomegaly |
ORPHA:79456 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Spastic gait, Neurogenic bladder, Decreased body weight, Elevated circulating creatine kinase con... |
ORPHA:96180 |
| Mal De Meleda |
|
Epidermal acanthosis, Flexion contracture, Erythema |
ORPHA:87503 |
| Riddle Syndrome |
|
Scaling skin, Arthritis, Enuresis nocturna, Gait disturbance, Ataxia, Elevated circulating alpha-... |
ORPHA:420741 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Psoriasiform lesion, Hepatosplenomegaly, Alopecia |
ORPHA:169154 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Pericardial effu... |
OMIM:614702 |
| Tangier Disease |
|
Hypertriglyceridemia, Nail dystrophy, Dry skin, Coronary artery stenosis, Hepatosplenomegaly, Lef... |
ORPHA:31150 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... |
OMIM:232220 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Osteoporosis, Increased circulating iron concentration, Splenomegal... |
OMIM:235200 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
| Acute Generalized Exanthematous Pustulosis |
|
Scaling skin, Purpura, Skin vesicle, Acantholysis, Renal insufficiency |
ORPHA:293173 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Elevated c... |
OMIM:255120 |
| Rat-Bite Fever |
|
Scaling skin, Myocarditis, Arthritis, Pericarditis, Weight loss, Septic arthritis, Endocarditis, ... |
ORPHA:31205 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... |
OMIM:615415 |
| Woodhouse-Sakati Syndrome |
|
Scaling skin, Osteopenia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow, Choreoathetosis, Mic... |
ORPHA:3464 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries |
ORPHA:90301 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema |
OMIM:617526 |
| Restrictive Dermopathy 1 |
|
Scaling skin, Ureteral duplication, Hypospadias, Absent eyelashes, Osteolytic defects of the dist... |
OMIM:275210 |
| Immunodeficiency 58 |
|
Scaling skin, Psoriasiform lesion, Atrophic scars, Dysuria, Failure to thrive |
OMIM:618131 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Enamel hypoplasia, Myocardial fibrosis, Thickened cortex ... |
OMIM:253250 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Scaling skin, Leukonychia, Skin ulcer, Panniculitis, Abnormal hair morphology, Abnormal eyelash m... |
ORPHA:2526 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... |
OMIM:314390 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Osteopenia, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubu... |
ORPHA:79259 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive, Sparse eyebrow, Thin skin, Sparse hair, Atrial septal def... |
OMIM:244450 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Scarring, Nail dystrophy, Difficulty walking, Failure to thrive, Sparse hair, Ureth... |
ORPHA:158668 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Epidermal acanthosis, Camptodactyly |
ORPHA:2199 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Decreased circulating carnit... |
OMIM:201475 |
| Alg9-Cdg |
|
Atrial septal defect, Abnormal bone ossification, Enlarged kidney, Hepatomegaly, Abnormal left ve... |
ORPHA:79328 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Epidermal acanthosis, Hepatomegaly, Fused cervical vertebrae, Elevated c... |
OMIM:612852 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Ataxia, Abnormal renal physiolo... |
OMIM:266500 |
| Congenital Syphilis |
|
Myocarditis, Palmoplantar scaling skin, Purpura, Periostitis, Petechiae, Synovitis, Nephrotic syn... |
ORPHA:499009 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Naxos Disease |
|
Epidermal acanthosis, Nail dystrophy, Right ventricular cardiomyopathy, Woolly hair, Curly hair, ... |
OMIM:601214 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Arthritis, Cardiomyopathy, Osteoporo... |
ORPHA:465508 |
| Meacham Syndrome |
|
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... |
OMIM:608978 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Renal insufficiency, Myog... |
ORPHA:228308 |
| Psoriasis 14, Pustular |
|
Epidermal acanthosis, Nail dystrophy, Elevated circulating C-reactive protein concentration, Psor... |
OMIM:614204 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly |
ORPHA:858 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Fractures of the long bones, Pericardial effusion, Ecchymosis, Splenomegaly, Mul... |
ORPHA:464329 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal... |
OMIM:618652 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa, Epidermal acanthosis |
ORPHA:79148 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Splenomegaly, Psoriasiform lesion, Arthritis |
OMIM:614700 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Epidermal acanthosis, Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse ... |
OMIM:613102 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Loss of ambulation, Cardiomegaly, Choreoathetosis, A... |
ORPHA:391428 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, White scaling skin |
OMIM:604777 |
| Kawasaki Disease |
|
Abnormality of nail color, Myocarditis, Elevated circulating C-reactive protein concentration, Ab... |
ORPHA:2331 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Joint hypermobility, Inguinal... |
OMIM:245600 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... |
OMIM:618188 |
| Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos... |
ORPHA:324410 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous ... |
OMIM:618280 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Cardiomyopathy, Absent eyebrow, Camptodactyly of toe, Cardiomegaly... |
ORPHA:158687 |
| Long-Olsen-Distelmaier Syndrome |
|
Failure to thrive, Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyo... |
OMIM:620609 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Abnormality of connective tissue, Rheumatoid arthritis, Failure to... |
ORPHA:79128 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scaling skin, Nail dystrophy, Dystrophic fingernails, Hypospadias, Unilateral renal agenesis, Ing... |
OMIM:308205 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, Hy... |
ORPHA:508 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis, Nail dystrophy, Flexion contracture, Sparse hair, Alopecia |
OMIM:242300 |
| Ogden Syndrome |
|
Left atrial enlargement, Redundant neck skin, Enlarged kidney, Redundant skin, Cutis laxa, Umbili... |
OMIM:300855 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Epidermal acanthosis, Long eyelashes |
OMIM:616069 |
| Parkes Weber Syndrome |
|
Scaling skin, Abnormal circulating B-type natriuretic peptide concentration, Skin ulcer, Nephroti... |
ORPHA:90307 |
| Cantú Syndrome |
|
Curly eyelashes, Abnormal heart valve morphology, Low posterior hairline, Long eyelashes, Hypertr... |
ORPHA:1517 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb ataxia, 3-Methylglutaconic aciduria, Truncal ataxia, Cardiomyopathy, Gait disturbance, Gait ... |
OMIM:619259 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Loss of truncal subcutaneous adipose tissue, Hirsutism, L... |
ORPHA:2463 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Tip-toe gait, Limited elbow movement, Limited knee flexion/extension, Inability to walk, Pollakis... |
ORPHA:268 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Pallor, Glomerulonephritis |
ORPHA:99931 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Pericarditis, Elevated circulating creatinine concentration, Urinary bladder inf... |
ORPHA:449395 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Redundant skin, Splenomeg... |
ORPHA:116 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Aortic valve ... |
OMIM:208540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilateral renal agenes... |
OMIM:270400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Epidermal acanthosis, Erythema, Single ventricle, Epiphyseal stippling, Abnormal cardiac septum m... |
OMIM:308050 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... |
ORPHA:85451 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... |
OMIM:130650 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement |
OMIM:614473 |
| Timothy Syndrome |
|
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Scarring |
ORPHA:398189 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis, Flexion contracture of digit, Woolly hair, Sparse hair, Alopecia universalis |
OMIM:619208 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Epidermal acanthosis, Hepatomegaly, Thick hair, Dry skin, Sparse eyelashes, Enamel hypoplasia, Sp... |
OMIM:607626 |
| Mucopolysaccharidosis Type 3 |
|
Reduced bone mineral density, Joint stiffness, Abnormal mitral valve morphology, Ataxia, Splenome... |
ORPHA:581 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm... |
OMIM:194080 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Large for gestational age, Enlarged kidney, Abnormal right ventricle morpholog... |
ORPHA:500095 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform lesion, Limitation of joint mobility, Generalized morning stiffness, Sacroiliac arth... |
ORPHA:85436 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Dry sk... |
OMIM:617388 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Fucosidosis |
|
Spastic gait, Hepatomegaly, Petechiae, Dry skin, Glycopeptiduria, Failure to thrive, Thick eyebro... |
OMIM:230000 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Inguinal hernia, Inability to walk, Highly arched eyebrow, Gait distu... |
OMIM:618143 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Omphalocele, Craniosynostosis, Cystic renal dysplasia |
OMIM:200995 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... |
ORPHA:57777 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Dubowitz Syndrome |
|
Hypospadias, Inguinal hernia, Sparse scalp hair, Sparse lateral eyebrow, Hypocholesterolemia |
OMIM:223370 |
| Helsmoortel-Van Der Aa Syndrome |
|
High anterior hairline, Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, F... |
OMIM:615873 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr... |
OMIM:617713 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Small for gestational age, Delayed epiphyseal ossification |
OMIM:613320 |
| Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Nail dystrophy, Leukonychia |
ORPHA:79151 |
| Cole Disease |
|
Abnormal blood phosphate concentration, Epidermal acanthosis, Abnormal hair morphology |
OMIM:615522 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Gaucher Disease, Perinatal Lethal |
|
Purpura, Hepatomegaly, Akinesia, Petechiae, Decreased body weight, Hepatosplenomegaly, Splenomega... |
OMIM:608013 |
| Fucosidosis |
|
Lipoatrophy, Hepatomegaly, Mucopolysacchariduria, Failure to thrive, Cardiomegaly |
ORPHA:349 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Nail dystrophy, Yellow nails |
OMIM:148700 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria |
OMIM:618886 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatom... |
OMIM:256040 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... |
OMIM:620306 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Limb ataxia, Urinary incontinence, Truncal ataxia, Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:105210 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Epidermal acanthosis |
OMIM:300918 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Lipoatrophy, Enlarged kidney, Multiple lipomas |
ORPHA:276280 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri... |
ORPHA:1329 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Epidermal acanthosis, Nail dystrophy |
OMIM:616029 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Leukonychia, Epidermal acanthosis, Erythema |
OMIM:617525 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Alopecia of scalp, Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger,... |
OMIM:602782 |
| Mogs-Cdg |
|
Hepatomegaly, Hirsutism, Long eyelashes, Hepatosplenomegaly, Left ventricular hypertrophy, Cardio... |
ORPHA:79330 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Epidermal acanthosis, Neurogenic bladder, Dry skin, Ataxia, Dysmetria |
OMIM:618527 |
| Odontoonychodermal Dysplasia |
|
Dry hair, Epidermal acanthosis, Dystrophic fingernails, Dystrophic toenail, Dry skin, Sparse scal... |
OMIM:257980 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Joint hypermobility, Ventricular septal defect |
OMIM:618798 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Alopecia of scalp |
OMIM:608649 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis, Dilated cardiomyopathy |
OMIM:208000 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... |
OMIM:268800 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Vulvovaginal Gingival Syndrome |
|
Epidermal acanthosis, Erythema |
ORPHA:83453 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly... |
OMIM:312870 |
| Bohring-Opitz Syndrome |
|
Severe failure to thrive, Fixed elbow flexion, Inability to walk, Limitation of joint mobility, B... |
ORPHA:97297 |
| Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Erythema, Abnormal hair morphology |
OMIM:242100 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypoplasia of penis, Redundant skin, Pulmonic stenosis,... |
ORPHA:904 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis, Nail dystrophy, Finger joint hypermobility |
OMIM:615225 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Difficulty wal... |
OMIM:232300 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Fa... |
ORPHA:308552 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... |
OMIM:300257 |
| Pseudoxanthoma Elasticum |
|
Civatte bodies, Restrictive cardiomyopathy, Cutis laxa, Renovascular hypertension, Mitral stenosi... |
OMIM:264800 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Nail dystrophy, Hypoproteinemia, Hyperammonemia, Splenomegaly, Umbilical... |
OMIM:619991 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Difficulty walking, Inability to walk, Elevated circulating creatine kinase concent... |
ORPHA:365 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Omphalocele, Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Cardiomegaly, D... |
OMIM:614921 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
| Proteus Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Long penis,... |
ORPHA:744 |
| Huriez Syndrome |
|
Epidermal acanthosis, Nail dystrophy |
OMIM:181600 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Inability to walk, Truncal ataxia, Partial atrioventricular canal defect, Secundum ... |
OMIM:620066 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Tracheobronchomalacia, Cutis laxa, Failure to thrive, Abnormal heart morphology, ... |
ORPHA:95430 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Pallor, Ventricular septal defect, Let... |
ORPHA:137675 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Acantholysis |
OMIM:101900 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy, Renal cell carcinoma |
ORPHA:79501 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Erythema |
OMIM:613943 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
| Aicardi-Goutières Syndrome |
|
Lipoatrophy, Difficulty walking, Panniculitis, Arthritis, Dry skin, Hypertrophic cardiomyopathy, ... |
ORPHA:51 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Purpura, Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Failure ... |
OMIM:620376 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Inability to walk, Tracheomalacia, Highly arched eyebrow, Patent foramen ovale, Decreased body we... |
OMIM:620371 |
| Sickle Cell Disease |
|
Hepatomegaly, Hematuria, Splenomegaly, Cardiomegaly, Renal insufficiency |
OMIM:603903 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phalanx of the thumb ... |
OMIM:300967 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epidermal acanthosis, Perimembranous ventricular septal defect, Fused cervical vertebrae, Hepatom... |
ORPHA:83617 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Severe failure to thrive, Hypospadias, Absent sternal ossification, Cardiomy... |
ORPHA:3472 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Failure to thrive, Hepato... |
OMIM:618278 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Umbilical hernia, Cardiomegaly, Joint hypermobility, Ventricular septal defect |
ORPHA:96191 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Inguinal hernia, Cardiomegaly, Abnormality of connective tissue |
ORPHA:91387 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, High anterior hairline, Osteolytic defects of the phalanges of the hand, Decreased bo... |
OMIM:182250 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Fused cervical vertebrae, Osteomalacia, Ventricular hypertrophy, Abnorm... |
ORPHA:51608 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial septal defect, Atrial situs ambiguous, Transposition of the great arteries, Infracardiac t... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Ca... |
ORPHA:75565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
