| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin |
OMIM:616265 |
| Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat, Scaling ... |
ORPHA:90158 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Unsteady gait, Absent pubic ha... |
ORPHA:2269 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Erythema, Palmoplantar scaling skin, Scaling skin, Decreased movement range in interphalangeal jo... |
ORPHA:530838 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Eryt... |
ORPHA:90156 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma... |
ORPHA:90368 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy, Hypospadias, Increased circulating farnesol ... |
OMIM:618156 |
| Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Epidermal acanthosis, Palmoplantar scaling skin, Nail dyst... |
ORPHA:100976 |
| Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Ataxia, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea... |
OMIM:266510 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Flexion contracture, Scaling skin |
OMIM:612952 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring ... |
ORPHA:35173 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Scali... |
ORPHA:284426 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
| Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Flexion contracture, Dry skin, Renal cortical cysts, Scaling skin, Failure to thrive |
OMIM:609180 |
| Lupus Erythematosus Tumidus |
|
Scarring, Scaling skin |
ORPHA:90283 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D... |
OMIM:604536 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Dilated cardiomyopathy, Ca... |
OMIM:605676 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Abnormal renal morphology, Hypocholesterolemia, Atrial septal defect, ... |
OMIM:610883 |
| Psoriasis 2 |
|
Psoriasiform dermatitis, Epidermal acanthosis, Scaling skin |
OMIM:602723 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Erythema, Scaling skin, Joint contracture, Dry skin |
OMIM:614457 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
| Proteus Syndrome |
|
Epidermal acanthosis, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial ... |
OMIM:176920 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Bazex Syndrome |
|
Yellow nails, Nail dystrophy, Scaling skin, Liposarcoma |
ORPHA:166113 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease, Abnormal epidermal morphology |
ORPHA:79147 |
| Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Limited shoulder movemen... |
ORPHA:39812 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom... |
OMIM:269920 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelas... |
OMIM:619064 |
| Ichthyosis With Confetti |
|
Decreased body weight, Hypoplastic nipples, Scaling skin, Hypertrichosis |
OMIM:609165 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Scarring, Abnormal circulating porphyrin concentrat... |
ORPHA:101330 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterole... |
OMIM:607765 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin |
OMIM:113800 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, I... |
OMIM:617303 |
| Peeling Skin Syndrome 1 |
|
Nail dystrophy, Brittle hair, Scaling skin |
OMIM:270300 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Elevated circulating creati... |
OMIM:300280 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Peeling Skin Syndrome 4 |
|
Nail dystrophy, Epidermal acanthosis, Scaling skin |
OMIM:607936 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Failure to thrive in infancy, Hepatosplenomegaly, Patchy alopecia, Scali... |
OMIM:606367 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:36234 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Ataxia, Proteinuria, Pericardial effusion, Abnormal subcu... |
OMIM:212065 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Sparse eyebrow, Micropenis, Hypocholesterolemia, Hypertrophic cardiom... |
OMIM:618810 |
| Recon Progeroid Syndrome |
|
Joint laxity, Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism |
OMIM:620370 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Erythema, Scaling skin |
OMIM:607602 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
| Cutaneous Mastocytoma |
|
Erythema, Scaling skin |
ORPHA:79455 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Psoriasiform lesion, Aortic valve calcification, Osteolytic defects of the phalanges ... |
OMIM:616298 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Psoriasiform dermatitis, Recurrent f... |
ORPHA:168569 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Scaling skin, Elevated circulating creatine kinase concentration |
ORPHA:79323 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Leukonychia, Scaling skin, Dry skin |
OMIM:616295 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Synophrys, Heparan sulfate excretion i... |
OMIM:252920 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir... |
ORPHA:42 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle |
ORPHA:79481 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Broad-based gait, Ataxia, Fail... |
ORPHA:14 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent eyebrow, Sparse scalp hair, Flexion contracture of finger, Sparse eyelashes, Sparse eyebro... |
ORPHA:1010 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Small for gestational age, Highly arched eyebrow, Unilateral renal agenesis, Sparse ... |
OMIM:618419 |
| Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Atrophic scars, Erythema |
ORPHA:79100 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Kid Syndrome |
|
Psoriasiform dermatitis, Epidermal acanthosis, Sparse eyelashes, Sparse eyebrow, Scarring alopeci... |
ORPHA:477 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Redundant skin, Muscular ventricular septal defect, Low posterior hair... |
ORPHA:79324 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio... |
ORPHA:251004 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Erythema, Horizontal eyebrow, Scaling skin, Left ventricular hypertrophy... |
ORPHA:294023 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Joint stiffness, Heparan sulfate excretion in urine, Inability to walk, ... |
ORPHA:505248 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Synophrys, Flexion contracture, Facial erythema, Knee fl... |
OMIM:619503 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Scaling skin |
OMIM:620148 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Epidermal acanthosis, Scaling skin |
OMIM:612281 |
| Basan Syndrome |
|
Epidermal acanthosis, Nail dystrophy, Flexion contracture of digit |
OMIM:129200 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterior hairline... |
ORPHA:363705 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy |
ORPHA:79395 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Xanthelasma, Foca... |
OMIM:232200 |
| Restrictive Dermopathy |
|
Osteopenia, Atrial septal defect, Ureteral duplication, Multiple joint contractures, Hypospadias,... |
ORPHA:1662 |
| Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, Left ventricular h... |
ORPHA:31150 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Car... |
OMIM:256550 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational... |
OMIM:239850 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:96180 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Riddle Syndrome |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Erythema, Weight loss, Enuresis noc... |
ORPHA:420741 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Scaling skin |
ORPHA:79456 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Psoriasiform lesion, Hepatosplenomegaly |
ORPHA:169154 |
| Mal De Meleda |
|
Flexion contracture, Erythema, Epidermal acanthosis |
ORPHA:87503 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Xan... |
OMIM:232220 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, A... |
OMIM:620135 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Cra... |
OMIM:252500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Limb ataxia, Truncal ataxia, Hyperalaninem... |
OMIM:619051 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly,... |
OMIM:235200 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Ventricular septal defect, Small for gestational age, Cardiomegaly,... |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Acantholysis, Scaling skin, Skin vesicle, Purpura |
ORPHA:293173 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, H... |
OMIM:614702 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Hyperlipidemia, Choreoathetosis, Scaling skin, Micropenis, Aplasia/Hypoplas... |
ORPHA:3464 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Hirsutism |
ORPHA:90301 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Sparse eyelashes, Short nail, Limb joint contracture, Hypospadias, Absent e... |
OMIM:275210 |
| Rat-Bite Fever |
|
Pericarditis, Myocarditis, Oligoarthritis, Endocarditis, Weight loss, Arthritis, Scaling skin, Se... |
ORPHA:31205 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
| Immunodeficiency 58 |
|
Psoriasiform lesion, Dysuria, Atrophic scars, Scaling skin, Failure to thrive |
OMIM:618131 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Pan... |
ORPHA:2526 |
| Mulibrey Nanism |
|
Hepatomegaly, Nephroblastoma, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel... |
OMIM:253250 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Sparse eyebrow, Thin skin, Hypocholesterolemia, ... |
OMIM:244450 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Scarring, Nail dystrophy, Difficulty walking, Scaling skin, Sparse hair, Fail... |
ORPHA:158668 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Camptodactyly |
ORPHA:2199 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Stage ... |
ORPHA:79259 |
| Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Lipodystrophy, U... |
ORPHA:79328 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
| Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Epidermal acanthosis, Failure to thrive in infancy, Elev... |
OMIM:612852 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Joint stiffness, Cardiomegaly, Increased circulating ferritin concentration, Elevat... |
ORPHA:465508 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal ... |
OMIM:266500 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Epidermal acanthosis, Elevated circulating C-reactive protein concentrat... |
OMIM:614204 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
| Naxos Disease |
|
Curly hair, Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy... |
OMIM:601214 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, White scaling skin |
OMIM:604777 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Fractures of the long bones, Splenomegaly, Osteolysis, Hepatosplenomegaly, ... |
ORPHA:464329 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Perianal erythema, Inguinal hernia, Mul... |
OMIM:308205 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... |
OMIM:618652 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Arthritis, Failure to thrive, Psoriasiform lesion |
OMIM:614700 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone f... |
OMIM:618188 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Inguinal hernia, Bicuspid aortic valve, Recurrent fractures, Joint hypermobility, Cra... |
OMIM:245600 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, A... |
ORPHA:391428 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Cardiomegaly, Cardiomyopathy, Congenital alopecia... |
ORPHA:158687 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect,... |
OMIM:618280 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Long eyelashes, Epidermal acanthosis |
OMIM:616069 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Epidermal acanthosis, Flexion contracture, Nail dystrophy, Sparse hair |
OMIM:242300 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thr... |
ORPHA:79128 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Osteoporos... |
ORPHA:1517 |
| Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
| Parkes Weber Syndrome |
|
Skin ulcer, Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Scaling ski... |
ORPHA:90307 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Inabili... |
ORPHA:268 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, 3-Methylglutaconic... |
OMIM:619259 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Large for ge... |
ORPHA:116 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Joint hypermobility, Cardiomegaly, Synophrys, Low posterior hairli... |
ORPHA:2463 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa... |
OMIM:270400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Pallor, Failure to thrive |
ORPHA:99931 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Epidermal acanthosis, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevate... |
OMIM:308050 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ... |
OMIM:130650 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Scarring |
ORPHA:398189 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Splen... |
OMIM:607626 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Petechiae, Cardiomegaly, Splenomegaly, Flexion contracture, Glyc... |
OMIM:230000 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Generalized morning stiffness, Limitation of joint ... |
ORPHA:85436 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Larg... |
ORPHA:500095 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Failure to thrive, Epidermal acanthosis, Elevated circulating C-reactive protein co... |
OMIM:617388 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Loss of ... |
ORPHA:581 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Obesity, Abnormal heart morphology, Mitral valv... |
OMIM:615873 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Inguinal hernia, Hypospadias, Hypocholesterolemia, Sparse lateral eyebrow |
OMIM:223370 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Highly arched e... |
OMIM:618143 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Small for gestational age, Cardiomegaly |
OMIM:613320 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Ar... |
OMIM:608013 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Epidermal acanthosis, Nail dystrophy |
OMIM:148700 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... |
ORPHA:90363 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Mucopolysacchariduria, Failure to thrive |
ORPHA:349 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Campt... |
OMIM:256040 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney |
ORPHA:276280 |
| Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis, Alopecia totalis |
OMIM:300918 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia |
OMIM:105210 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis, Leukonychia |
OMIM:617525 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Epidermal acanthosis, Dysmetria, Dry skin |
OMIM:618527 |
| Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Epidermal acanthosis, Short nail, Sparse eyebrow, Erythema, Fine hai... |
OMIM:257980 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Epidermal acanthosis, Nail dystrophy |
OMIM:616029 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Joint hypermobility, Cardiomegaly |
OMIM:618798 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Epidermal acanthosis |
OMIM:608649 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Left ventricular hypertrophy, Cardiomegaly, Hepatosplenomegaly, Long eyel... |
ORPHA:79330 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets |
OMIM:208000 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatomegaly, Hypospadias, Car... |
OMIM:312870 |
| Vulvovaginal Gingival Syndrome |
|
Erythema, Epidermal acanthosis |
ORPHA:83453 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St... |
ORPHA:731 |
| Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Abnormal hair morphology, Alopecia, Erythema, Epidermal acanthosis |
OMIM:242100 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Synophrys, Limitation of joint mobility, Bilateral wrist flexion... |
ORPHA:97297 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis, Nail dystrophy, Finger joint hypermobility |
OMIM:615225 |
| Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Nail dystrophy, Leukonychia, Acantholysis |
ORPHA:79151 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Elevated circulating crea... |
ORPHA:904 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Sandhoff Disease |
|
Hepatomegaly, Ataxia, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Pseudoxanthoma Elasticum |
|
Renovascular hypertension, Mitral valve prolapse, Cutis laxa, Civatte bodies, Restrictive cardiom... |
OMIM:264800 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... |
ORPHA:365 |
| Cole Disease |
|
Epidermal acanthosis, Abnormal blood phosphate concentration |
OMIM:615522 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Atrial ... |
OMIM:619991 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
| Huriez Syndrome |
|
Epidermal acanthosis, Nail dystrophy |
OMIM:181600 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalo... |
ORPHA:95430 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Renal cell carcinoma, Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy |
ORPHA:79501 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Pallor, Lethargy, Failure to t... |
ORPHA:137675 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cardiomegaly, Hepatosplenomegaly, Micropenis, Arthritis... |
ORPHA:51 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Epidermal acanthosis, Contracture of the distal interphalangeal jo... |
ORPHA:83617 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, C... |
OMIM:300967 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Absent sternal ossification, Ventricula... |
ORPHA:3472 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
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 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Umbilical hernia |
ORPHA:96191 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, ... |
OMIM:182250 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Osteomalacia, Cardiomeg... |
ORPHA:51608 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
