Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 3 |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Multiple Symmetric Lipomatosis |
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Hepatomegaly, Insulin resistance, Multiple lipomas, Gait disturbance, Abnormal adipose tissue mor... |
ORPHA:2398 |
Plin1-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Aredyld Syndrome |
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Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enam... |
ORPHA:1133 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Autoinflammatory-Pancytopenia Syndrome |
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Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Chr... |
OMIM:619858 |
Lipase Deficiency, Combined |
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Pancreatitis, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Lipodystrophy, Familial Partial, Type 4 |
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Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... |
OMIM:613877 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... |
ORPHA:71529 |
Acquired Partial Lipodystrophy |
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Lipoatrophy, Insulin resistance, Hepatic steatosis, Generalized hirsutism |
ORPHA:79087 |
Congenital Generalized Lipodystrophy |
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Mandibular prognathia, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in fema... |
ORPHA:528 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Premature loss of... |
OMIM:248370 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
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Abnormal dental morphology, Lipoatrophy, Abnormal eyelash morphology, Hypodontia, Sparse hair, Ab... |
ORPHA:1818 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Donohue Syndrome |
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Precocious puberty, Abdominal distention, Adipose tissue loss, Thick lower lip vermilion, Hyperin... |
OMIM:246200 |
Neutral Lipid Storage Disease With Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... |
ORPHA:79085 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat... |
OMIM:608612 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Acroosteolysis of distal phalanges (feet), Micrognathia, Premature graying of hair, Increased int... |
ORPHA:280365 |
Lipodystrophy, Familial Partial, Type 2 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul... |
ORPHA:276580 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Lipodystrophy, Familial Partial, Type 5 |
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Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hem... |
OMIM:608709 |
Lipodystrophy, Familial Partial, Type 6 |
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Insulin resistance, Diabetes mellitus, Hepatic steatosis, Lipodystrophy |
OMIM:615980 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl... |
ORPHA:276556 |
Ddost-Cdg |
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Elevated hepatic transaminase, Lipodystrophy, Constipation, Gastroesophageal reflux, Primary hypo... |
ORPHA:300536 |
Mandibuloacral Dysplasia |
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Dental crowding, Micrognathia, Glucose intolerance, Increased intraabdominal fat, High palate, Sp... |
ORPHA:2457 |
Dentinogenesis Imperfecta |
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Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Transient Neonatal Diabetes Mellitus |
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Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Cystinosis |
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Fever, Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes... |
ORPHA:213 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Pressure-Induced Localized Lipoatrophy |
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Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90160 |
Graft Versus Host Disease |
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Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea... |
ORPHA:39812 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
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Carious teeth, Hepatitis, Thick vermilion border, Enamel hypoplasia, Sparse lateral eyebrow |
ORPHA:363523 |
Short Syndrome |
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Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... |
ORPHA:3163 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Abnormal hair quantity, Lipoatrophy, Micrognathia, Open bite, Carious teeth, Cryptorchidism, Low ... |
ORPHA:2617 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Type 1 Diabetes Mellitus |
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Polydipsia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... |
OMIM:222100 |
Ruijs-Aalfs Syndrome |
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Lipodystrophy, Down-sloping shoulders, Micrognathia, Elbow flexion contracture, Premature graying... |
OMIM:616200 |
Short Syndrome |
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Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micro... |
OMIM:269880 |
Perlman Syndrome |
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Hepatomegaly, Inguinal hernia, Femoral hernia, Micrognathia, High, narrow palate, Cryptorchidism,... |
ORPHA:2849 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Congenital generalized lipod... |
OMIM:608154 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
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Membranoproliferative glomerulonephritis, Lipodystrophy, Progressive loss of facial adipose tissu... |
OMIM:613913 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Hip contracture, Inguinal hernia, Microretrognathia, Coxa valga, Micrognat... |
OMIM:618363 |
Alg3-Cdg |
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Abnormal circulating enzyme concentration or activity, Lipodystrophy, Abnormality of the endocrin... |
ORPHA:79321 |
48,Xyyy Syndrome |
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Acne, Thick lower lip vermilion, Irregularly spaced teeth, Feeding difficulties, Radioulnar synos... |
ORPHA:99329 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
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2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... |
OMIM:613573 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ... |
OMIM:226650 |
Insulin-Like Growth Factor I, Resistance To |
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Micrognathia, Synophrys, High palate, Long philtrum, Highly arched eyebrow, Narrow mouth, Retrogn... |
OMIM:270450 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Junctional Epidermolysis Bullosa Inversa |
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Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Nail dystrop... |
ORPHA:79405 |
Amelogenesis Imperfecta, Type Ij |
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Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Micrognathia, Abnormal hair morp... |
ORPHA:1979 |
Pparg-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
Panniculitis-Induced Localized Lipodystrophy |
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Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90159 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc... |
OMIM:203550 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Enamel hypopla... |
ORPHA:79402 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Increased connective tissue, Keratitis, Scarring alopecia of scalp, Carious teeth, Nail dystrophy... |
OMIM:226670 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Late-Onset Junctional Epidermolysis Bullosa |
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Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Nail dystrop... |
ORPHA:79406 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Long toe, Sparse scalp hair, Lipodystrophy, Arachnodactyly, Sparse eyelashes, Sparse eyebrow, Cry... |
ORPHA:75496 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Otodental Dysplasia |
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Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Ile... |
OMIM:613327 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
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Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
Rabson-Mendenhall Syndrome |
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Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocalcinosis, Hig... |
ORPHA:769 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Multiple joint contractures, Ulnar deviation of the... |
ORPHA:157954 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Synophrys, Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Short philtrum, W... |
OMIM:619293 |
Familial Multiple Lipomatosis |
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Bowing of the long bones, Odontogenic keratocysts of the jaw, Lipodystrophy, Functional intestina... |
ORPHA:199276 |
Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Brittle hair, Lipoatrophy, Abnormal h... |
ORPHA:2963 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Hypothyroidism, Alopec... |
OMIM:240300 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Feeding difficu... |
ORPHA:90322 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Gastrointestinal infla... |
ORPHA:79411 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Brittle hair, Abnormality of hair tex... |
OMIM:219200 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Fever, Ataxia, Cachexia, Anorexia, Malab... |
ORPHA:3452 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Central Diabetes Insipidus |
|
Hyponatremia, Fever, Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes ins... |
ORPHA:178029 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... |
OMIM:253250 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Gastroesophageal reflux, Camp... |
OMIM:184900 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Slender long bones with narrow diaphyses, Generalized lipodystrophy |
ORPHA:50811 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abdominal distention, Portal fibrosis,... |
ORPHA:369 |
Acrogeria |
|
Lipoatrophy, Micrognathia, Small hand, Fine hair, Short foot |
ORPHA:2500 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyl... |
OMIM:175700 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma |
ORPHA:141184 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Abdominal distention, Jaundice, Macroglossia, Constipation, Umbilical hernia |
ORPHA:95719 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Lipodystrophy, Skin rash, Splen... |
OMIM:617591 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Feeding difficulties in infancy, Thick lower... |
OMIM:234250 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating aspartate aminotr... |
OMIM:614727 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabetes m... |
OMIM:262190 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum, Sparse ha... |
ORPHA:261304 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Sparse hair, Enamel hypoplasia |
OMIM:613576 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Micrognathia, Feeding difficulties, Epiphyseal stippling, High palate |
OMIM:614882 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... |
OMIM:129400 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri... |
ORPHA:166272 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal ossification, Elevated ... |
ORPHA:226313 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo... |
OMIM:613684 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Downturned corners of mouth |
OMIM:618856 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Hypoalbuminemia... |
ORPHA:2298 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Oligodontia |
|
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin... |
OMIM:603552 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Dicarboxylic aciduria, Hypothermia, Elevat... |
ORPHA:159 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure,... |
OMIM:617872 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia |
OMIM:226700 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism... |
OMIM:619273 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Red hair, Hepatic steatosis |
OMIM:620195 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia, Hypothermia, Elevated circulating acylcarnitine concentratio... |
OMIM:615026 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... |
ORPHA:139474 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased... |
OMIM:300635 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel mor... |
ORPHA:1077 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Fla... |
OMIM:184260 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Postaxial polydactyly, Splenomegaly, Patent ductus a... |
OMIM:614576 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... |
ORPHA:2325 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Enamel h... |
OMIM:612463 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Psoriasif... |
ORPHA:168569 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... |
OMIM:301033 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypo... |
ORPHA:2089 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate, Feeding difficulties |
OMIM:617915 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Carious teeth, Sparse eyebrow,... |
OMIM:612843 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... |
ORPHA:75234 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Hypergonadotropic hypogona... |
OMIM:212112 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal in... |
OMIM:606528 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Neonatal hyperbil... |
ORPHA:90674 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90158 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... |
ORPHA:247585 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Hepatic failure, Abnormal dental enamel morphology |
ORPHA:3196 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Patent ductus arteriosus, Cryptorchidism, Cholestas... |
OMIM:608104 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Delayed puber... |
OMIM:616033 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Filippi Syndrome |
|
2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Th... |
OMIM:272440 |
48,Xxyy Syndrome |
|
Feeding difficulties in infancy, Abnormal shoulder morphology, Gastroesophageal reflux, Clinodact... |
ORPHA:10 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na... |
ORPHA:166108 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, High palate, Widely spaced t... |
OMIM:218330 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammati... |
ORPHA:79410 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic... |
ORPHA:763 |
Hereditary Central Diabetes Insipidus |
|
Fever, Weight loss, Lethargy, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Glomerulopathy, Diabetes mellitus, Multicystic ... |
ORPHA:93111 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Werner Syndrome |
|
Sparse scalp hair, Lipodystrophy, Rocker bottom foot, Lipoatrophy, Abnormal hair whorl, Insulin r... |
ORPHA:902 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy |
ORPHA:154 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:71267 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Abnormality of the gallbla... |
ORPHA:349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Microdontia of primary teeth, Agenesis of permanent teeth, ... |
OMIM:189500 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Micrognathia, Pancreatic steatosis, Cr... |
OMIM:617052 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l... |
OMIM:613849 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Hepatitis, Bronchiectas... |
ORPHA:33110 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... |
ORPHA:525731 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
OMIM:619468 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology, Type II diabetes mellitus |
ORPHA:3199 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodontia, Short p... |
ORPHA:391408 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukopenia, Recurrent hypoglycemia, 3-Methylglutaric aciduria, Lethargy, Hepatomegaly, ... |
ORPHA:20 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc... |
OMIM:613101 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal fingern... |
ORPHA:1515 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Thick hair, Carious teeth, Abnormal s... |
ORPHA:357074 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Diabetes mel... |
ORPHA:101330 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormality ... |
ORPHA:2056 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... |
OMIM:619787 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic failure, Renal cyst, Proximal tubulopathy, Hepatic fibrosi... |
OMIM:602579 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Lipodystrophy, Neutrophilic infiltration of the skin, Clinodactyly, Brachydactyly |
OMIM:618048 |
Analbuminemia |
|
Patent ductus arteriosus, Lipodystrophy |
OMIM:616000 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Chronic dia... |
ORPHA:47 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Slender long bone, Decreased circulating osteocalcin level, Pseudoarthr... |
OMIM:619795 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Curly hair, Pierre-Robin sequence, Small hand, Cleft palate, Thick ... |
OMIM:619980 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Parathyroid Carcinoma |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... |
OMIM:210720 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Hashimoto thyroiditis, Fulminant hepa... |
OMIM:618549 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short foot, Dentinogenesis imperfecta, Upper limb undergrowth, Toe clinodactyly |
ORPHA:166277 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Lack of facial subcutaneous fat, Selective tooth agenesis, Micrognat... |
ORPHA:2959 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colit... |
OMIM:614602 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Scarf Syndrome |
|
Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Short sternum, H... |
ORPHA:3134 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Micrognathia, Finger clinodactyly,... |
OMIM:611182 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Swelling of proximal interphalangeal ... |
ORPHA:69087 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Lipoatrophy |
ORPHA:2301 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... |
ORPHA:358 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lipoatrophy,... |
ORPHA:90156 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
East Syndrome |
|
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... |
ORPHA:199343 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Stomatitis, Eczema, Abdominal pain, Abdominal distention... |
OMIM:212750 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Ketonuria, Hypoglycemia, Ataxia, Anorexia, Thrombocytosis, Leukocytosis, Hyp... |
ORPHA:134 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... |
ORPHA:199306 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy, Hypersplenism,... |
OMIM:613385 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Metaphyseal sclerosis, Abnormality of the endocrine system, Pri... |
ORPHA:2905 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal fingertip morphology, Micrognathia, Abnormality of the dentition, Narrow mouth... |
ORPHA:90154 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Bowing of the long bones, Inguinal hernia, Craniofacial hype... |
ORPHA:61 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Sacr... |
ORPHA:89936 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
ORPHA:329918 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Narrow mouth, Flexion contracture, Malnutrition, Corneal scarrin... |
OMIM:226600 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Sialuria |
|
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Splenomegaly, Synophrys, Hirsutism, 2-3 ... |
OMIM:269921 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:99880 |
Hamamy Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of hair w... |
OMIM:611174 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Feeding difficulties |
OMIM:609975 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candid... |
OMIM:608971 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Nail dystrop... |
ORPHA:79409 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Abnormality of the dentition, Abnormality of the frontal hairline, Oligodo... |
ORPHA:557003 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Osteogenesis Imperfecta, Type Xix |
|
Bowing of the arm, Rhizomelia, Dentinogenesis imperfecta, Bowing of the legs |
OMIM:301014 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Feeding difficulti... |
OMIM:619737 |
Alg9-Cdg |
|
Micrognathia, Narrow greater sciatic notch, Vomiting, Gastroesophageal reflux, Bifid uvula, Micro... |
ORPHA:79328 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Abdominal distention, High, narrow palate, Cryptorchidism, Hypoplasia of teeth, C... |
ORPHA:3010 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Hypoglycemia, Ataxia, Proteinuria... |
OMIM:617575 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Mandibular prognathia, Foot joint contracture, Scarr... |
ORPHA:90321 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, ... |
OMIM:235255 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... |
ORPHA:320 |
Weaver Syndrome |
|
Deep-set nails, Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Abnormal... |
ORPHA:3447 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, Short middle p... |
OMIM:613823 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Elevated circulating thyroid-stimulating hormone con... |
OMIM:612462 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... |
ORPHA:189427 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hepatomegaly, Flexion contracture, Small hand, Feeding difficulties |
OMIM:300884 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino... |
OMIM:227810 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien... |
OMIM:182290 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidis... |
OMIM:103580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance |
OMIM:618400 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Ketonuria, Low plasma citrulline, Elevated circulating alan... |
OMIM:261680 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hip dysplasia,... |
ORPHA:440713 |
Alpha-Heavy Chain Disease |
|
Fever, Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, ... |
ORPHA:100025 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Hypoplastic ilia, Abdominal distention, Stillbirth, Umbilical hernia... |
OMIM:600972 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Abnormal fingernail morphology, Feeding difficultie... |
ORPHA:1334 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Wide distal femoral metaphysis, Generalized hirsutism, Femoral... |
OMIM:614856 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Abn... |
ORPHA:399 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Dentinogenesis i... |
OMIM:610967 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... |
ORPHA:3157 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemi... |
OMIM:615863 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Jaundice, Micronodular cirrhosis, Decr... |
OMIM:301045 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hypospadias, H... |
ORPHA:17 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Elevated alkaline phosphatase of bone origin, Irregular, rachitic-like... |
ORPHA:289157 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Flexion contracture, Glucose intolerance, High palate, Macrovesicular hepatic steat... |
OMIM:619127 |
Ramon Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma... |
ORPHA:3019 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Microretrognathia, Syndac... |
OMIM:311200 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Addictive alcohol use, Hyperglycemia, Left ventricular hypertrophy, Hypercholestero... |
ORPHA:90065 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas, Thyroid carcinoma, Foo... |
ORPHA:210548 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta |
OMIM:104510 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Sple... |
OMIM:232220 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... |
ORPHA:79240 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Dental crowding, Selective tooth age... |
OMIM:210600 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Hypercholesterolemia |
ORPHA:254531 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long fingers, Fa... |
OMIM:619489 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... |
OMIM:174050 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Polycystic ovaries, ... |
ORPHA:3085 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Nephrogenic diabetes insipidus... |
OMIM:613404 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... |
ORPHA:263501 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Achondrogenesis Type 1A |
|
Femoral hernia, Micromelia, Micrognathia, Abdominal distention, Short foot, Short palm, Umbilical... |
ORPHA:93299 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pa... |
OMIM:610199 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia... |
ORPHA:79319 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Sparse hair, Decrea... |
OMIM:606721 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Feeding difficulties, Thin vermilion bord... |
OMIM:615502 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... |
ORPHA:731 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Psoriasiform dermatitis, Enterocolitis, Bloody diarrhea, Hem... |
OMIM:243150 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abdominal pain,... |
ORPHA:90003 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysur... |
ORPHA:3463 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Gastroesophageal reflux, Clinodactyly of the 5th finger, Chronic otitis me... |
ORPHA:96263 |
Leprechaunism |
|
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly... |
ORPHA:508 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Athetosis, Hypokalemia, Hyperal... |
ORPHA:369929 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle... |
ORPHA:88630 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Inguinal hernia, Cryptorchidism, Fine hair, Sparse hair, Hypodontia, Microdontia |
ORPHA:1174 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Feeding difficulties, Taurodontia, High palate, Widely spaced teeth, Umbilical h... |
OMIM:618205 |
Hall-Riggs Syndrome |
|
Nausea and vomiting, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphol... |
ORPHA:2107 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin con... |
ORPHA:95513 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, 3-Methylglutaconic aciduria, Hypoalbumi... |
OMIM:618329 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Specific Granule Deficiency 2 |
|
Brachydactyly, Sandal gap, Conical tooth, Recurrent pneumonia, Fragile nails, Recurrent otitis me... |
OMIM:617475 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Delayed p... |
OMIM:232200 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL choleste... |
ORPHA:412 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... |
OMIM:605282 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Coffin-Siris Syndrome 2 |
|
Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Thick vermilion border, Absen... |
OMIM:614607 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... |
OMIM:618727 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... |
ORPHA:90673 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Abnorm... |
ORPHA:2409 |
Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Finger clinodactyly, Premature grayi... |
ORPHA:79474 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Heimler Syndrome 1 |
|
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta |
OMIM:234580 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Cryptorchi... |
ORPHA:2962 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Hep... |
ORPHA:79259 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlip... |
ORPHA:444490 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Overla... |
OMIM:609069 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Lipoatrophy, Micrognathia, Hypoplasia of the maxilla, N... |
OMIM:601812 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, Uveitis, High palate, Joint contracture of the 5th finger, Sp... |
OMIM:164200 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Hypogonadotropic hypogonadism, Poor ... |
ORPHA:298 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Sh... |
OMIM:619184 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Nocturia, Enuresis, Hypokalemia, Increas... |
OMIM:263800 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Micrognathia, Abdominal distention, Post... |
ORPHA:1655 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated... |
OMIM:617253 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Nail dystrophy, Hypodontia, Dysphagia, Enamel hypoplasia, Anonychia |
OMIM:616029 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Congenital hip dislocation, Red hair, Dentinogenesis imperfecta |
OMIM:229200 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Short lower limbs |
OMIM:259440 |
Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... |
ORPHA:633 |
Becker Nevus Syndrome |
|
Abnormal tibia morphology, Lipoatrophy, Supernumerary nipple, Micromelia |
ORPHA:64755 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Flexion... |
OMIM:613330 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, Elevated p... |
ORPHA:3008 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Hepatospl... |
OMIM:619013 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni... |
ORPHA:2260 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal d... |
ORPHA:314473 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Skin rash, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis |
OMIM:617099 |
Stiff Skin Syndrome |
|
Lipoatrophy, Type II diabetes mellitus |
ORPHA:2833 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Hypertrichosis, Macroglos... |
OMIM:616354 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, My... |
ORPHA:549 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... |
OMIM:614876 |
Dominant Beta-Thalassemia |
|
Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of the maxilla, Hypoparathyroidis... |
ORPHA:231226 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... |
ORPHA:103909 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Leukocytosis, Temperature instability, Abno... |
ORPHA:391673 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Genu valgum, Promine... |
OMIM:300602 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618398 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... |
OMIM:257850 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal... |
OMIM:208085 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:605911 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Short long bone, Protuberant abdomen, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... |
OMIM:616914 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Clinodactyly, Fine hair, Fragile nails, Abnormality of the dentition |
ORPHA:500166 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... |
ORPHA:1227 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia |
OMIM:609016 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Absence of subcutaneous fat, Premature loss of teeth, Corneal scar... |
OMIM:610965 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Unilateral renal agene... |
OMIM:616541 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed erupti... |
OMIM:619269 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Gastroesophageal reflux, Clinodactyly of the 5th finger, Chronic otitis me... |
ORPHA:96264 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Atrophic scars, Nail dystrophy, Nail dysplasia, Intractable diarrhea, Arth... |
OMIM:226730 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Gastroesophageal reflux, Short palm, ... |
ORPHA:198 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Sandal gap, Micrognathia... |
ORPHA:79322 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Low anterior hairline... |
ORPHA:73272 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Multiple joint contractures, Brittle hair, High... |
ORPHA:33364 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Thin vermilion border, Hypogonadis... |
OMIM:608540 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... |
OMIM:615285 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Timothy Syndrome |
|
Hypoglycemia, Hypothermia, Cardiomegaly, Hypocalcemia, Hypothyroidism |
OMIM:601005 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Nephrogenic Diabetes Insipidus |
|
Fever, Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abn... |
ORPHA:223 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Inguinal hernia, Flexion contracture, Submucous ... |
OMIM:222765 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, Lymphadenopa... |
OMIM:603553 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... |
OMIM:216400 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Clinodactyly, Hypoplastic pubic bone,... |
OMIM:184250 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, In... |
OMIM:612780 |
Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Finger syndactyly, Alope... |
ORPHA:3253 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability to walk, Flexion contracture... |
OMIM:615547 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Carious teeth, Insulin r... |
OMIM:214150 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal chang... |
ORPHA:567548 |
Cohen Syndrome |
|
Short metacarpal, Decreased response to growth hormone stimulation test, Tapered finger, Feeding ... |
OMIM:216550 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f... |
ORPHA:2750 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Dental crowding, Lipoatrophy, Decreased serum lep... |
OMIM:614008 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Unexplained fevers, Polydipsia, Failure to thrive, Diabetes ... |
OMIM:304800 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Microdontia, Splenomeg... |
OMIM:607014 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Decreased response to growth hormone stimulation test, Nasogastric tube feeding in... |
OMIM:618922 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Unexplained fevers, Polydips... |
OMIM:125800 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... |
ORPHA:819 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Micromelia, Abdominal distention, Delayed epiphyseal ossification, Splenomegaly, Fl... |
OMIM:602557 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, High ... |
OMIM:618874 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... |
OMIM:613677 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Adducted thumb, Hydrocele testis, Notched primary central incisor, High anteri... |
OMIM:620062 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia... |
ORPHA:436252 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Long fingers, Diarrhea, Jaundice, Abno... |
ORPHA:79333 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Elevated circul... |
ORPHA:439822 |
Pseudohypoparathyroidism Type 1C |
|
Abdominal symptom, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergona... |
ORPHA:79444 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size |
OMIM:614962 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Micromelia, Micrognathia, Rec... |
OMIM:613848 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus... |
ORPHA:3220 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... |
OMIM:614654 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Inguinal hernia, Thick eyebrow, Central diaphragmatic hernia, Short distal pha... |
OMIM:614608 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Abn... |
ORPHA:63442 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Macrophage Activation Syndrome |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concen... |
ORPHA:158061 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft lip, Cleft palate, Cutane... |
ORPHA:2890 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Th... |
OMIM:235510 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, A... |
ORPHA:2710 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98855 |
Pseudohypoparathyroidism Type 1B |
|
Abdominal symptom, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... |
ORPHA:94089 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, ... |
OMIM:617303 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Eve... |
OMIM:618067 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:241200 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... |
OMIM:613070 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus... |
ORPHA:3082 |
Erdheim-Chester Disease |
|
Fever, Renal insufficiency, Hypogonadotropic hypogonadism, Ataxia, Dysuria, Retroperitoneal fibro... |
ORPHA:35687 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Sandal gap, Carious teeth, Widow's peak, Small hand, 2-... |
OMIM:619229 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Abnormal... |
ORPHA:2092 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Abdominal pain, Skin rash, Glomerulonep... |
ORPHA:36234 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Arachnodactyly, Camptodactyly of finger, Micrognathia, Abdominal distention,... |
ORPHA:2604 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong... |
OMIM:269860 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Metatarsus adductus, Splenomegaly, Flexion contracture, Hirsutism, G... |
OMIM:253220 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Micromelia, Micrognathia, Protrudin... |
OMIM:259775 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Adrenal calcification, Abdominal distention, Splenomegaly, Mal... |
ORPHA:75233 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Delayed eruption of teeth, Congenital hip dislocation, Increased T3/T4 ratio, Congen... |
OMIM:614450 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Familial Cold Urticaria |
|
Fever, Polydipsia |
ORPHA:47045 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Athyreosis |
|
Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy... |
ORPHA:95713 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Trap... |
OMIM:307800 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... |
OMIM:616263 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatiti... |
ORPHA:562 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, He... |
OMIM:243910 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Delayed puberty, Generalized ... |
ORPHA:1816 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Splenomegaly, Jaundice,... |
ORPHA:540 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Tibial bowing, Slender long bone, Dentinogenesis imperfecta |
OMIM:259420 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Absent eyelashes, Feeding diffi... |
OMIM:620193 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Elevated urinary dopamine level, Elevated circulat... |
ORPHA:230 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Ataxia, Hypot... |
ORPHA:79282 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... |
ORPHA:228308 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Widely spaced teet... |
OMIM:601216 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Gastroesophageal reflux, Decreased liver fun... |
ORPHA:70472 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Jaundice, W... |
ORPHA:381 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increas... |
ORPHA:79320 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Onycholysis, Neoplasm of the oral cavity |
ORPHA:525 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Fat mal... |
ORPHA:71 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Feeding difficulties in infancy, High, narrow... |
OMIM:180849 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Extramedullary hem... |
ORPHA:79303 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Tented upper lip vermilion, Lipodystrophy, Micrognathia, Flexion contr... |
ORPHA:435628 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circulating hormone ... |
ORPHA:314478 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Feeding difficulties,... |
OMIM:615802 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al... |
ORPHA:785 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Short first... |
OMIM:601957 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, ... |
ORPHA:169160 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality o... |
ORPHA:99885 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Acne, Camptodactyly of finger,... |
ORPHA:137834 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Hypo... |
OMIM:124000 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Nail dysplasia, Amelogenesis imperfecta |
OMIM:615887 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Hypothyroidism, Hyperlipidemia, Cryptorchidism, S... |
ORPHA:254346 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Abnormal carpal... |
ORPHA:85166 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proxi... |
OMIM:190350 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Hypergonadotropic hypogonadism, Ata... |
OMIM:212065 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... |
ORPHA:398069 |
Sjögren-Larsson Syndrome |
|
Inflammatory abnormality of the eye, Abnormal dental enamel morphology |
ORPHA:816 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, N... |
ORPHA:251019 |
Immunodeficiency 56 |
|
Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis ... |
OMIM:615207 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Coxa valga, Epiphyseal deformities of tubul... |
OMIM:253000 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn... |
OMIM:225060 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Obesity, Renal cyst, Micropenis, Stage 5 chronic kidney disease, Hypogonadism, Polydipsia |
OMIM:615994 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Delayed puberty, Joint ... |
OMIM:615704 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Congenital diaphragmatic hernia, Micrognathia, Concave nail, Narrow mo... |
OMIM:300978 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Decreased response to growth hormone... |
ORPHA:1855 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Erythroderma... |
OMIM:304790 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypothyroidism, Al... |
ORPHA:37042 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Meningococcal Meningitis |
|
Fever, Renal insufficiency, Hypothermia, Elevated circulating C-reactive protein concentration, A... |
ORPHA:33475 |
Cockayne Syndrome |
|
Dry hair, Feeding difficulties in infancy, Congenital contracture, Gastroesophageal reflux, Hepat... |
ORPHA:191 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Abnormal hip... |
ORPHA:584 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Renal insuffic... |
ORPHA:537 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Absent nipple, Unilateral cleft palate, ... |
ORPHA:1299 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Fine hair, Abnormal hip bone morphology, Clinodactyly of the 5... |
ORPHA:3236 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Diar... |
OMIM:607765 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Incre... |
ORPHA:77293 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Nasogastric tube feeding in infancy, Vomiting, Sparse hair, Microdontia... |
ORPHA:2909 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux, Hi... |
OMIM:618268 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Diarrhea, Synophrys, Coarse hair, Everted lower lip vermilion, Hernia... |
OMIM:252930 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... |
OMIM:615453 |
Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergona... |
ORPHA:79443 |
Scarf Syndrome |
|
Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Short sternum, Hy... |
OMIM:312830 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased testicular size, Overlapping toe, Broad hallux, Hypogonadotropic hypogonadism, Microgna... |
ORPHA:293967 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Thick hair, Highly arched eyebrow, Overweight, Renovascular hypertension, Type II diabetes mellit... |
ORPHA:401923 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Thin upper lip vermilion, Eczema, Splenomegaly, ... |
OMIM:616651 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth,... |
OMIM:618342 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hepatitis, Oral ulcer, Chronic hepatitis, Gingivitis, Scler... |
OMIM:308230 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Coxa valga, Epiphyseal deformities of tubul... |
OMIM:253010 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Very long c... |
ORPHA:98908 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increased mean c... |
ORPHA:90041 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair, Arachnodactyly, Dental crowding, High palate, Hepatic steatosis, P... |
OMIM:236200 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Fibrochondrogenesis 1 |
|
Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, R... |
OMIM:228520 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va... |
OMIM:264090 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... |
ORPHA:3455 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Vomiting, Elevated ... |
OMIM:619991 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... |
ORPHA:420561 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Feeding dif... |
ORPHA:1812 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal diste... |
ORPHA:103907 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capita... |
OMIM:612350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Abdominal distention, Feeding difficulties, Gas... |
OMIM:620275 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Cardiomegaly, Micrognathia, Metaphyseal widening, Sparse hair, Progressive alveolar... |
OMIM:252500 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, Hepatic fibrosis, High palate, Microdontia, Spar... |
OMIM:614091 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Micrognathia, Protuberant abdomen, Umbilical hernia, Enlarged kidney |
OMIM:618272 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting |
OMIM:238970 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Thin upper lip vermilion, Hypoglycemia, Feeding difficulties in infancy... |
ORPHA:231137 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula... |
OMIM:618805 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Ante... |
OMIM:151050 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Leukopenia, Hypoalbumi... |
ORPHA:99826 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting ... |
ORPHA:47159 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Scarring, Oral mucosal blisters, Feeding difficulties, Atrop... |
ORPHA:79396 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of... |
ORPHA:3071 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Flexion contracture, ... |
ORPHA:86309 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... |
OMIM:208540 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Abnormal hair pattern, Abnormality of the ... |
ORPHA:1786 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph... |
ORPHA:444077 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Small for gestational age, Elevated circulating aspar... |
OMIM:617093 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Toe syndactyly, Hypoglycemia, Cryptorchi... |
OMIM:618958 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... |
ORPHA:83469 |
Congenital Enterovirus Infection |
|
Fever, Abnormal macrophage morphology, Hypothermia, Fetal ascites, Thrombocytopenia, Leukocytosis... |
ORPHA:292 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Abdominal pain, Splenomegal... |
ORPHA:829 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... |
ORPHA:180229 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Premature adrenarche, Lethargy, Micropenis, Hypothalamic luteinizing hormone-releasin... |
ORPHA:398079 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Enanthema,... |
ORPHA:139402 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cleft upp... |
ORPHA:915 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... |
ORPHA:56304 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, In... |
OMIM:309900 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Osteogenesis Imperfecta, Type Xi |
|
Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta, Protrusio ace... |
OMIM:610968 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Multiple glomerular cysts, Ataxia, Hypothermia, Hepatic failure, Low plasma ... |
ORPHA:255210 |
Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Hypoxemia, Abnormality of connecti... |
ORPHA:79128 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Curly hair, Rhizomelia, Hypoglycemia, Short proximal phalanx of finger,... |
OMIM:616638 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormality of thyroid physiology, Minimal change glomerulonephri... |
ORPHA:1830 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Splenomegaly, Hypocalcification of dental enamel, Chronic otitis media, ... |
ORPHA:169090 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Narrow iliac wing, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short nail, 2-3 ... |
OMIM:614099 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Rothmund-Thomson Syndrome Type 1 |
|
Patellar hypoplasia, Vomiting, Microdontia, Sparse hair, Hypothyroidism, Short phalanx of finger,... |
ORPHA:221008 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Ataxia, Hypothermia, Hyperkalemia, Renal tubular epithe... |
ORPHA:31826 |
Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia... |
OMIM:614098 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anor... |
ORPHA:199299 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Arthrit... |
ORPHA:91138 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Carious te... |
ORPHA:2834 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatic steatosis, Self-mutilation... |
OMIM:619487 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... |
ORPHA:98907 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... |
ORPHA:171 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... |
OMIM:613662 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia... |
ORPHA:565 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... |
OMIM:269200 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Micrognathia, Cleft palate, Narrow pelvis bone, Hammertoe, Abnormal liver lobula... |
OMIM:608022 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachn... |
ORPHA:536467 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, Obesity, Inappropriate laughte... |
ORPHA:411515 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Hypothermia, Precocious puberty, Self-injurious behavior, High palate,... |
ORPHA:58 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Abdominal distention, Delayed epiphyseal ossification, Metaphyseal widening, ... |
ORPHA:93352 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Downturne... |
OMIM:176270 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis |
ORPHA:848 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decrease... |
ORPHA:2980 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Micrognathia, Trismus, Flexion contracture, Recurrent pneumonia, Feeding difficulties... |
OMIM:616271 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Conical tooth, Abnormality of the dentition, Hypoplastic toenails... |
ORPHA:952 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Abnormal intrahepatic b... |
ORPHA:363618 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Clinodactyly... |
OMIM:615637 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... |
ORPHA:681 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ... |
OMIM:268400 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Poor appetite, Micrognathia, Delayed eruptio... |
OMIM:619322 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis,... |
OMIM:617671 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Synophrys, Narrow palate, Hypoplasia of teeth, Wide m... |
OMIM:620250 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Abd... |
OMIM:619879 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Abnormal long bone mor... |
ORPHA:1163 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Uve... |
ORPHA:575 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Hypoglycemic seizur... |
OMIM:231530 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... |
ORPHA:90153 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Abno... |
ORPHA:2238 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Pol... |
ORPHA:228402 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia of teeth, K... |
OMIM:234050 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Recurrent skin infections, Oral mucosal blisters, Abdominal distention, Urin... |
ORPHA:79403 |
Pseudohypoaldosteronism Type 2 |
|
Nausea and vomiting, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus, Postaxial foot polyd... |
OMIM:615996 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip... |
OMIM:601701 |
Fg Syndrome 3 |
|
Broad hallux, Cryptorchidism, Feeding difficulties, Fine hair, Chronic constipation, Frontal upsw... |
OMIM:300406 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Oculofaciocardiodental Syndrome |
|
Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly... |
ORPHA:2712 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Abnormal limb bone morphology, Feeding difficulties, Downturned corners of mouth, E... |
ORPHA:251009 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99413 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Focal Dermal Hypoplasia |
|
Ridged nail, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopath... |
OMIM:305600 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Chronic diarrhea, Flexion contracture, Absen... |
OMIM:601675 |
Mosaic Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:99226 |
Turner Syndrome |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconv... |
ORPHA:881 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Amel... |
OMIM:612529 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Toe syndactyly, Camptodactyly of finger, Highly arched eyeb... |
ORPHA:1327 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Diarrhea, Synophrys, Coarse hair, Umbilical hernia, ... |
OMIM:252900 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Ataxia, Abnormality of the k... |
OMIM:209900 |
Heimler Syndrome 2 |
|
Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta |
OMIM:616617 |
Hidrotic Ectodermal Dysplasia |
|
Abnormal metacarpophalangeal joint morphology, Absent eyebrow, Alopecia, Hypopigmentation of hair... |
ORPHA:189 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactiv... |
ORPHA:261229 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Clubbing of toes, ... |
ORPHA:2198 |
Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Dependency on parenteral nutrition, Bronchiectasis, Secretory diarrhea, Vom... |
OMIM:619445 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal... |
ORPHA:582 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Abdominal distention, Jaundice, Macroglossia, Constipation, Ect... |
ORPHA:95712 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Glucose intolerance, Gastroesophageal reflux, High pa... |
OMIM:117550 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... |
OMIM:257200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Abnormal thumb ... |
ORPHA:1842 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, H... |
ORPHA:116 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ... |
ORPHA:289 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Reactive hypoglycemia, ... |
ORPHA:469 |
Lead Poisoning |
|
Delayed eruption of teeth, Skin rash, Anorexia, Abdominal pain, Abdominal distention, Tubulointer... |
ORPHA:330015 |
Glucagonoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97280 |
Primary Biliary Cholangitis |
|
Portal hypertension, Abnormality of the thyroid gland, Abdominal distention, Jaundice, Biliary ci... |
ORPHA:186 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Sparse eyebrow, Cryptorchi... |
ORPHA:444072 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Cleft palate, Polydactyly, Talipes equinovarus, Enlarged k... |
OMIM:613885 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Thin upper lip vermilion, Hypoglycemia, Long philtrum |
OMIM:614741 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Orofacial cleft, Arthritis, Cholestat... |
ORPHA:92050 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Hepatomegaly, Elevated hepatic transaminase, Ankle flexion contracture, Micrognathia,... |
OMIM:608799 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Tibial bowing, Femoral bo... |
OMIM:610915 |
Camurati-Engelmann Disease |
|
Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis... |
ORPHA:1328 |
Rothmund-Thomson Syndrome Type 2 |
|
Patellar hypoplasia, Vomiting, High palate, Microdontia, Sparse hair, Short phalanx of finger, Ge... |
ORPHA:221016 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, Abdominal pain,... |
ORPHA:100924 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Flat acetabular roof, Elongated ... |
OMIM:619345 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly, Cone-shaped e... |
OMIM:615630 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia, Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea... |
ORPHA:93552 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Horizontal eyebrow, ... |
ORPHA:96168 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic fingernail, Hypoplastic thumbnail, Micrognathia, Precocious puberty, Narrow mouth, Hy... |
OMIM:619356 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Rhinitis, Hernia, Generalized hirsutism |
ORPHA:93476 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Nasogastric tube feeding in infancy, Increased muscle lipid content, Increased musc... |
ORPHA:254864 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Abdominal distention, Arthritis, Septic arthritis |
OMIM:619423 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... |
ORPHA:521219 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Micrognathia, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Sparse ha... |
ORPHA:1071 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Thyroid C cell hyperplasia, ... |
ORPHA:653 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Hydrocele testis, Multiple ... |
ORPHA:276280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypoglycemia, Small for gestational age, Ataxia, Highly arched eyebro... |
OMIM:220111 |
Ppoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97278 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
Immunodeficiency 9 |
|
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenes... |
OMIM:612782 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... |
OMIM:307030 |
Ctcf-Related Neurodevelopmental Disorder |
|
Nasogastric tube feeding in infancy, Synophrys, Gastroesophageal reflux, Joint contracture of the... |
ORPHA:363611 |
Developmental And Epileptic Encephalopathy 100 |
|
Hypoplastic fingernail, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral ca... |
OMIM:619777 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Shortening of all distal pha... |
OMIM:616202 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Carious teeth, Splenomegaly, Jaundice, Malnutrition, ... |
OMIM:612714 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi... |
ORPHA:100086 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Rhizomelia, Glomerulonephritis, Supernum... |
OMIM:614376 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... |
ORPHA:417 |
Ohdo Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Sparse eyebrow, Cryptorchidism, Hypoplasia of teet... |
OMIM:249620 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Pelvic mass, Anorexia, Precocious puberty, Abdomin... |
ORPHA:370348 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Somatostatinoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97283 |
Colonic Atresia |
|
Omphalocele, Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Ac... |
OMIM:210200 |
Infantile Liver Failure Syndrome 1 |
|
Long toe, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Long fingers, Hepat... |
OMIM:615438 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Epiphyseal stippling, Decreased liver function, Ne... |
OMIM:614870 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, C... |
OMIM:215600 |
Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... |
ORPHA:1798 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Ascites |
ORPHA:168811 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... |
ORPHA:1946 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contrac... |
ORPHA:666 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow |
ORPHA:171829 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increase... |
OMIM:619313 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration, Nocturia, Increased blood ... |
OMIM:223360 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pr... |
OMIM:614524 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Vipoma |
|
Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Inter... |
ORPHA:97282 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Orofacial cleft, Abnormal toenail morphology, Infectious encep... |
ORPHA:464 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Eczema, Sulfite oxidase deficiency, Fine hair, Episodic vomiting |
OMIM:272300 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Roc... |
ORPHA:2616 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contract... |
ORPHA:1883 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Carious teeth, Splenomegaly, Flexion contr... |
ORPHA:90324 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Intestinal malrotation... |
OMIM:600001 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Acne, Broad uvula, Metatarsus adductus, Submucous cleft ha... |
ORPHA:2804 |
Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia |
ORPHA:77260 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Elevated alkaline phos... |
OMIM:615363 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat... |
OMIM:619573 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Patent duct... |
OMIM:300048 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Re... |
OMIM:557000 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Proteinuria, Elevated circulating creatine ki... |
ORPHA:94093 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... |
ORPHA:96182 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Malar flatteni... |
ORPHA:2180 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplasia of the calcaneus... |
OMIM:215140 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Microcephaly, Amish Type |
|
Hepatomegaly, Flexion contracture, Poor suck, Micrognathia |
OMIM:607196 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Inguinal hernia, Bowed humerus, Tarsal... |
OMIM:272460 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Velopharyngeal insuff... |
OMIM:614701 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Feeding difficulties, Decreased liver ... |
OMIM:246900 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hep... |
ORPHA:14 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Camptodactyly, R... |
OMIM:604273 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the d... |
ORPHA:96169 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Abnormal oral gluco... |
OMIM:606824 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, ... |
OMIM:617337 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Diabetes mellitus, Liver abscess, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Ataxia, Pancytopenia, S... |
ORPHA:158048 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Rett Syndrome |
|
Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Agitation, Cholecystit... |
ORPHA:778 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Hepatomegaly, Facial hypertrichosis, Micrognathia, Splenomegaly, Supernumerary too... |
ORPHA:3473 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Lipoatro... |
ORPHA:51 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert... |
OMIM:619479 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption... |
OMIM:606893 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Eczematoid dermatitis |
OMIM:269840 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Hypothermia, Sparse hair |
OMIM:309400 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Multiple lipomas |
ORPHA:2396 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ata... |
ORPHA:99027 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... |
ORPHA:90368 |
Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Coarse hair, Hepatomegaly, Thick vermilion border, Tube feeding, Hirsutism, Inguinal h... |
OMIM:252940 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Coarse hair, Otitis media, Aspiration pneumonia, Ch... |
ORPHA:581 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Stomatitis |
OMIM:246400 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Abnormal oral cavity ... |
ORPHA:42642 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Precocious puberty, Cryptorchidism, Insulin ... |
ORPHA:813 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Anorexia, Abdominal pain, Tapered finger,... |
ORPHA:2930 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Postaxial ... |
ORPHA:2916 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intest... |
OMIM:200995 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Abdominal distention, Microvesicular hepatic steatos... |
OMIM:617156 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Cebalid Syndrome |
|
Highly arched eyebrow, Congenital diaphragmatic hernia, High palate, Polyphagia, Thick eyebrow |
OMIM:618774 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu... |
ORPHA:66634 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Feeding difficulties, Wide mouth, Delayed eruption o... |
OMIM:618506 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Neonatal epi... |
ORPHA:35173 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Choreoathetosis, ... |
ORPHA:445038 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Lipodystrophy |
ORPHA:300751 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers, High, narrow palate, Flexion c... |
ORPHA:284979 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice... |
ORPHA:348 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Bronchiectasis, C... |
OMIM:620233 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
Tbck-Related Intellectual Disability Syndrome |
|
Thick eyebrow, Hyperthyroidism, Neurogenic bladder, Decreased response to growth hormone stimulat... |
ORPHA:488632 |
Staphylococcal Necrotizing Pneumonia |
|
Fever, Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp... |
ORPHA:3111 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Vomiting, Conjunct... |
ORPHA:454836 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, High iliac win... |
ORPHA:50814 |
Woolly Hair Nevus |
|
Curly hair, Brachydactyly, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly... |
ORPHA:79414 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t... |
ORPHA:2215 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Cryptorchid... |
OMIM:618440 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Thick upper lip vermilion, ... |
ORPHA:163654 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... |
OMIM:129490 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Congenital hip disloca... |
ORPHA:456312 |
Myasthenia Gravis |
|
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Dysphagia, Abnormal thymus m... |
ORPHA:589 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor... |
ORPHA:33577 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Neuhauser Syndrome |
|
Ataxia, Low anterior hairline, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolem... |
OMIM:249310 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
Pmm2-Cdg |
|
Mandibular prognathia, Multiple joint contractures, Elevated circulating thyroid-stimulating horm... |
ORPHA:79318 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Thick vermilion border, Sh... |
ORPHA:364028 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, C... |
OMIM:108720 |
Grfoma |
|
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome... |
ORPHA:97261 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Hip dislocation, Short middle pha... |
ORPHA:1005 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of the philtrum, Micromelia, Abnormal ... |
ORPHA:1597 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis... |
ORPHA:797 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt... |
ORPHA:2063 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Hip dislocation, Dentinogenesis imperfecta, Thin metacar... |
OMIM:616507 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Polydipsia, Polyuria |
OMIM:273120 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Osteogenesis Imperfecta, Type I |
|
Hip dysplasia, Dentinogenesis imperfecta, Finger joint hypermobility, Femoral bowing |
OMIM:166200 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Irid... |
ORPHA:227982 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Split hand, Flar... |
OMIM:253200 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Hypoplastic ilia, Cr... |
ORPHA:85201 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Mandibular prognathia, Dry hair, Delayed erupt... |
OMIM:133540 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Cry... |
OMIM:130650 |
Gonadoblastoma |
|
Abdominal pain, Abdominal distention, Hirsutism, Increased serum testosterone level, Ovarian gona... |
ORPHA:206484 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, Precocious puberty, Long fingers, High, narrow palate, Synophrys, ... |
ORPHA:96092 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insu... |
ORPHA:227990 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair, Sho... |
ORPHA:1264 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Micrognathia, Deep philtru... |
ORPHA:329178 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Splenomegaly, White hair, Hip dislocation, Gingival o... |
ORPHA:576 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Intestinal obstruction, Abnormal dental enamel morphology, Micrognathia, Abno... |
ORPHA:2323 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cryptorchidism, Wide mouth, Protuberant abdomen, Long philtrum, Open mouth, Neonatal ... |
ORPHA:457485 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Alopecia, Recurrent skin infections, Pneumonia, Abnormal fingertip morpho... |
ORPHA:79404 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight... |
ORPHA:2126 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes... |
ORPHA:534 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic mucocutaneous candidiasis, Protracted... |
ORPHA:572 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Tip-toe gait, Hypocalcemia, Left v... |
ORPHA:746 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Abdominal pain, Abdominal distention, Splenomegaly, Jaundi... |
ORPHA:822 |
Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short... |
OMIM:218340 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den... |
ORPHA:3079 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Taurodontia, Pulp calcification |
OMIM:211900 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Thyroiditis,... |
ORPHA:3261 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Abnormality of hair texture, Synophrys, Dental malocclusion, Hypoplastic sweat glan... |
ORPHA:73223 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis... |
OMIM:104570 |
Dend Syndrome |
|
Downturned corners of mouth, Vomiting, Long philtrum, Clinodactyly of the 4th finger, Hyperglycemia |
ORPHA:79134 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Broad metacarpals, Hepatomegaly, Tapered finger, Precocious puberty, Cl... |
OMIM:301066 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin infections, Or... |
ORPHA:79408 |
Osteogenesis Imperfecta, Type Iv |
|
Femoral bowing present at birth, straightening with time, Dentinogenesis imperfecta |
OMIM:166220 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Griscelli Syndrome Type 2 |
|
Fever, Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidem... |
ORPHA:79477 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Micrognathia, Narrow mouth, Cryptorchidism, Fine hair, Downturned corners... |
OMIM:616817 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:96180 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Uveitis, Oligodontia, Coarse hair, Sparse hair, Atrophic, patchy alop... |
OMIM:308300 |
Fetal Hydantoin Syndrome |
|
Hypoplastic fingernail, Cryptorchidism, Cleft palate, Low posterior hairline, Wide mouth, Coarse ... |
ORPHA:1912 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Recurrent skin infections, Micrognathia, Chronic diarrhea, Herpes sim... |
OMIM:233600 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Uveitis, Glossoptosis, Sparse hair, Clinodactyly of the 5th fi... |
ORPHA:2108 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F... |
ORPHA:263463 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal... |
ORPHA:1782 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Short lingual frenulum, High, narrow palate, Short metatarsal, Low anterior hairline, P... |
OMIM:601358 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the t... |
ORPHA:733 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Everted lower lip vermilion, Hepatic steatosis |
OMIM:275630 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Elevated circulating alkaline phosph... |
OMIM:613312 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr... |
OMIM:209920 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Micrognathia, Feeding difficulties in infancy, Sparse eyebrow, Hydroc... |
OMIM:618810 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Feeding diffic... |
OMIM:618825 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Scorpion Envenomation |
|
Fever, Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, E... |
ORPHA:466677 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Abnormality of the dentition, Abnorm... |
ORPHA:2314 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Wide mouth, Short phi... |
ORPHA:1194 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
Man1B1-Cdg |
|
Broad-based gait, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity... |
ORPHA:397941 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Constipation, Hypoglycemia |
ORPHA:35 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... |
ORPHA:436271 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... |
OMIM:277590 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... |
ORPHA:739 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, D... |
ORPHA:79500 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Absent frontal sinuses, Knee flexion contracture, Increased density of ... |
OMIM:305620 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, High palate, Gastroesophageal reflux, Hepatic steatosis, Portal hy... |
OMIM:613658 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Broad-based gait, Precocious puberty in... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Patent ductus arteriosus, 2-3 toe syndactyly, Feeding difficulties, Wide mouth, Gas... |
OMIM:619934 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:251028 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of t... |
ORPHA:96149 |
Immunodeficiency 31C |
|
Fever, Hepatomegaly, Villous atrophy, Diabetes mellitus, Impaired lymphocyte transformation with ... |
OMIM:614162 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, High palate |
ORPHA:50812 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h... |
OMIM:118450 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Thick hair, Splenomegaly, Chronic diarrhea, Feeding ... |
OMIM:613489 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, El... |
OMIM:616433 |
Sepsis In Premature Infants |
|
Hepatomegaly, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Splenomegaly, Enteroc... |
ORPHA:90051 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Gastroesophageal reflux, Otitis media, Broad hallux, Pilomatrixoma, Patent ductu... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353277 |
Melnick-Needles Syndrome |
|
Omphalocele, Delayed eruption of teeth, Bowing of the long bones, Craniofacial hyperostosis, Coxa... |
ORPHA:2484 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,... |
OMIM:607812 |
Distal Duplication 6P |
|
Abnormal hair quantity, Micrognathia, Abnormal eyelash morphology, Fine hair, Thin vermilion bord... |
ORPHA:1745 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... |
ORPHA:955 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Inability to walk, Thrombocytopenia,... |
ORPHA:505248 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Swelling of proximal interph... |
ORPHA:3260 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria... |
OMIM:229600 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Seborrheic derma... |
OMIM:301072 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Prolidase Deficiency |
|
Hepatomegaly, Arachnodactyly, Abnormal fingernail morphology, Micrognathia, Carious teeth, Spleno... |
ORPHA:742 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Coxa valga, Micrognathia, Long fingers, Splenomegaly,... |
OMIM:608149 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape... |
OMIM:309350 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Congenital Macroglossia |
|
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Congenital diaphragmati... |
ORPHA:96170 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Hernia, Aspiration pneumonia, Hepatoblastoma,... |
ORPHA:1465 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hyperactivity, A... |
ORPHA:209905 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Gastroparesis, Abdominal distention, Macroglossia, Abn... |
ORPHA:85443 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Aplasia of the thymus, Pneumonia, D... |
ORPHA:83471 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Sple... |
OMIM:616050 |
C Syndrome |
|
Omphalocele, Hepatomegaly, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Accessory ... |
OMIM:211750 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypospadias, Microvesicula... |
OMIM:610198 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Gastroesophageal re... |
OMIM:616268 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurr... |
OMIM:240500 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Feeding ... |
OMIM:261540 |
Bloom Syndrome |
|
Syndactyly, Cryptorchidism, Bronchiectasis, Agenesis of maxillary lateral incisor, Hand polydacty... |
OMIM:210900 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Mi... |
ORPHA:818 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Feeding difficulties, Thick vermilion border, Gastroesophageal reflux, Macrodontia of permanent m... |
OMIM:620114 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Inguinal hernia, Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastr... |
ORPHA:51890 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Abnormal circulating creatine kinase ... |
ORPHA:369840 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Eczema, Sparse eyebrow, Long philtrum, Sparse hair, Woolly hair, Retrog... |
OMIM:619691 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Gastritis, Hepatoblastoma, Hypopigmentation of hair,... |
ORPHA:84064 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Hypothyroidism, High palate, Hypercholesterolemia, Abnormal repetitive mannerisms |
ORPHA:2479 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car... |
OMIM:259710 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hepatomegaly, Micrognathia, Abnormality of the pancreas, Non-midl... |
ORPHA:3376 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Recurrent loss of toenails and fingernails, Amelogenesis imper... |
OMIM:245660 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... |
OMIM:614300 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Thick lower lip ... |
OMIM:615828 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbirth, High pala... |
ORPHA:85212 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Feeding difficulties in infancy, Bilateral cryptorchidism, Neuromuscular dysphagia, Hip dysplasia... |
ORPHA:466722 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Cardiomegaly, Deep philtrum, Widely spaced ... |
OMIM:618143 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Abnormal dental enamel morphology, Hypoplastic fingernail |
ORPHA:257 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Feeding difficult... |
OMIM:619383 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Kaposiform Lymphangiomatosis |
|
Fever, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hep... |
ORPHA:464329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Lacticaciduria, Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Supernumerary nipple, Cryptorchidi... |
ORPHA:217346 |
Xylt1-Cdg |
|
Hepatomegaly, Acne, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Thic... |
ORPHA:370930 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, He... |
ORPHA:261318 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic diarrhea, Wide mo... |
OMIM:300953 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t... |
ORPHA:861 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Emanuel Syndrome |
|
Broad jaw, Inguinal hernia, Congenital hip dislocation, Dental crowding, Congenital diaphragmatic... |
OMIM:609029 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Feeding difficulties, Epiphyseal stippling, High palate, Talipes equinova... |
OMIM:614872 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Thin upper lip vermilion, Curly hair, Short lingual frenulum, Thick ey... |
OMIM:617360 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Feeding difficulties, Gastroesophageal reflux, Protuberant a... |
OMIM:230900 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, E... |
ORPHA:85199 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Diabetes mellitus, Abnormal hair pattern, Abnormality of the... |
ORPHA:2315 |
Kabuki Syndrome 2 |
|
Natal tooth, Highly arched eyebrow, Micrognathia, Feeding difficulties in infancy, Lower lip pit,... |
OMIM:300867 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus, Recurrent... |
OMIM:619769 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decr... |
ORPHA:289494 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... |
OMIM:619736 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel mor... |
ORPHA:2908 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Mi... |
OMIM:122470 |
Small Bowel Atresia |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Hypothyroidism, Hepatomegaly, Acholic stools, Decreased liver func... |
ORPHA:30391 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorpti... |
ORPHA:398063 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Type I diabetes mellit... |
ORPHA:290 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Abnormality of nail color, Skin rash, Abdominal pain, Myocardi... |
ORPHA:2331 |
Corneodermatoosseous Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Carious teeth, Abnormal finger... |
ORPHA:3194 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Abnormal intestine ... |
ORPHA:977 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Di... |
OMIM:615846 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Everted lower lip vermilion |
OMIM:278200 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypopla... |
OMIM:242900 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Truncal ataxia, Renal tubular dysfunction, ... |
OMIM:220110 |
Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, High p... |
OMIM:300855 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Microretrognathia, Splenomegaly, Jaundice, Patent du... |
OMIM:251290 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroesophageal reflux, P... |
OMIM:608800 |
Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole... |
OMIM:246700 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Microg... |
OMIM:608779 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Micrognathia, Cryptorchidism, Multiple unerupted teeth, Tooth agenes... |
ORPHA:2645 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Me... |
ORPHA:319251 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormality of the denti... |
OMIM:604379 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Trisomy 18P |
|
Highly arched eyebrow, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention... |
ORPHA:1715 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivi... |
OMIM:607594 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Decreased response to gr... |
OMIM:615866 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Hypoglycemia, Ataxia, Protein-losing enteropathy, Failure to thrive |
ORPHA:95428 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly, Oral ulcer, Abdominal pain |
OMIM:618852 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Cleft palate, Short long bo... |
OMIM:200610 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary t... |
ORPHA:79665 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Hep... |
ORPHA:1775 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... |
OMIM:606367 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties in infancy, Abnormalit... |
ORPHA:438216 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Decreased response to growth hormone stimulation test, Metaphyseal chondrodysplasia, M... |
ORPHA:811 |
Microtriplication 11Q24.1 |
|
Synophrys, Hyperlipidemia, Obesity, Cleft palate, Long eyelashes, Bruxism, Thick eyebrow |
ORPHA:289522 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating cre... |
ORPHA:52430 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Feeding difficulties, Vomiting, Hepati... |
ORPHA:2394 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Sparse hair, Hepatomegaly, E... |
OMIM:280000 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... |
ORPHA:369837 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Micrognathia, Splenomegaly, Contracture o... |
OMIM:607015 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis... |
ORPHA:47612 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior h... |
ORPHA:2095 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture, Feeding difficulties |
OMIM:617105 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Precoci... |
ORPHA:438213 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe... |
OMIM:617412 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Coffin-Lowry Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the maxilla, Hyperconvex fingernails, High palate,... |
ORPHA:192 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, H... |
OMIM:175500 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Persistence of primary teeth, Recurrent pneumonia, Chronic mucocutaneous candidiasis, ... |
OMIM:147060 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Curly hair, Brittle hair, Avascular necrosis of the capital femoral epiphysis, Abno... |
OMIM:222470 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hair, Sparse hair, Trich... |
OMIM:301845 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Protruding tongue, Generalized hypertrichosis, Gingival overgrowth... |
ORPHA:93399 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro... |
ORPHA:79327 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Abdominal pain, Feeding difficulties in infancy, Splenomegaly, Osteo... |
ORPHA:355 |
Seckel Syndrome |
|
Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Micrognathia, Cone-shaped epiph... |
ORPHA:808 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... |
OMIM:616300 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
Atelis Syndrome 2 |
|
Micrognathia, Diastema, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormon... |
OMIM:620185 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatarsal, Eruptio... |
OMIM:166250 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Abdominal adhesions, Feeding ... |
OMIM:616395 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Cardiomegaly, Asplenia, Posteriorly placed a... |
OMIM:306955 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micrognathia, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion contracture, Do... |
OMIM:300868 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Eruption failure, Multiple lipomas,... |
OMIM:175100 |
Immunodeficiency 10 |
|
Nail dysplasia, Amelogenesis imperfecta |
OMIM:612783 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Thin upper lip vermilion, Micrognathia, Long fingers, Feeding difficulties, Wide mouth,... |
ORPHA:363686 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormality of the endocrine system, Diarrhea, Hepa... |
ORPHA:391487 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Retrognathi... |
ORPHA:263487 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Feeding difficulties, ... |
ORPHA:415 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... |
ORPHA:2221 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Neo... |
OMIM:609638 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thin upper lip vermilion, Macrodontia, Micrognathia, Narrow mouth, Encopresis, Syno... |
OMIM:618443 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Acute Lung Injury |
|
Fever, Acute pancreatitis, Elevated circulating C-reactive protein concentration, Hypoxemia, Incr... |
ORPHA:178320 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palat... |
ORPHA:3310 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spaced teeth, High palate, ... |
OMIM:266920 |
Beta-Thalassemia Major |
|
Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of the maxilla, Hypoparathyroidis... |
ORPHA:231214 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Highly arched ... |
ORPHA:1454 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Gastroesophageal reflux, ... |
OMIM:608643 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon... |
OMIM:305100 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Sparse scalp hair, 2-3 toe syndactyly, Fine hair |
ORPHA:2324 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Feeding difficu... |
ORPHA:2309 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavi... |
OMIM:156200 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... |
ORPHA:158687 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Deep philtrum, Syno... |
OMIM:606003 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Micrognathia... |
OMIM:170100 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Metaphyseal widening, Triangular shape... |
ORPHA:73230 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Metat... |
ORPHA:261349 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Chronic kidn... |
ORPHA:642 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars... |
ORPHA:2067 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Micrognathia, Syno... |
OMIM:619841 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Natal tooth, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye... |
OMIM:167210 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Hypospadias, Congenital diaphragmatic hernia, Aggr... |
ORPHA:96121 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infancy, Deep phil... |
OMIM:115150 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq... |
ORPHA:199302 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Splenomegaly, Low anterior hairline, Gingiv... |
OMIM:248500 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Prominent fingertip pads, Sparse hair... |
OMIM:305450 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Splenomegaly, F... |
ORPHA:77297 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c... |
ORPHA:239 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hypoglycemia, Skin rash, Diarrhea, Ja... |
ORPHA:90062 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Tape... |
OMIM:619148 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Gastroesophageal r... |
OMIM:618188 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thic... |
OMIM:230740 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Poor appetite, Feeding difficulties in infancy, Constipation,... |
OMIM:606054 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Cleft upper lip, Woolly hair |
ORPHA:34217 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Low anterior hairline, Premature loss... |
ORPHA:99843 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,... |
OMIM:269300 |
Acrocraniofacial Dysostosis |
|
Abnormal fingernail morphology, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar dev... |
ORPHA:949 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m... |
ORPHA:367 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Osteomyelitis, Femur fracture, Carious teeth, Splenomegaly, Flared metaphysis, Coxa... |
OMIM:259700 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... |
OMIM:602347 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,... |
OMIM:214110 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat... |
ORPHA:50945 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the dentition, Abnormality of hair texture, Abnorma... |
ORPHA:88618 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Abnormal glycosphingolipid metabolism, Cholecystitis |
ORPHA:309263 |
Chops Syndrome |
|
Curly hair, Gastroparesis, Thick hair, Splenomegaly, Patent ductus arteriosus, High, narrow palat... |
OMIM:616368 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... |
OMIM:142680 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Cholecystitis |
ORPHA:309256 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micro... |
OMIM:145420 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Oral mucosal ... |
ORPHA:95455 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Anorexia, Abdominal pain, Recurrent skin infections, Splenom... |
OMIM:619381 |
Tenorio Syndrome |
|
Mandibular prognathia, Hypoglycemia, Recurrent pneumonia, Wide mouth, Macroglossia, Keratoconjunc... |
OMIM:616260 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Elevated gamma-glutamyl... |
OMIM:619534 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Elevated gamma-glutamyltransfer... |
ORPHA:53035 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormality of the dentitio... |
OMIM:615885 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Vomiting, Optic neuritis, Nausea, Myelitis |
ORPHA:83597 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Sparse scalp hair, Eczema, Micrognathia, ... |
OMIM:223370 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... |
ORPHA:884 |
Craniofrontonasal Syndrome |
|
Ridged nail, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Split nail, Broad h... |
OMIM:304110 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Kilquist Syndrome |
|
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Feeding difficulties, Hypoplasia of teeth,... |
OMIM:619080 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Abdominal distention, Abnormal glycosphingolipid metabolism, Cholecystitis, N... |
ORPHA:309271 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hai... |
OMIM:613610 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metaca... |
OMIM:602535 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Hypoplasia of the maxilla, Patent ductus arteriosus, Short metatarsal, Elbow fl... |
OMIM:608328 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Hydrocele testis, Coarse hair, High palate, Long philtrum, Recurrent ... |
OMIM:605309 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdom... |
ORPHA:79276 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Recurrent otitis media, M... |
ORPHA:2728 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth |
OMIM:618107 |
Hurler Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Chronic diarrhea, Feeding difficulties, Narr... |
ORPHA:93473 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Gastroesophageal reflux, Hypoplasia of the thymus,... |
ORPHA:567 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the dentition, Abnorm... |
OMIM:614929 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Micrognathia, Short philtrum, Umbilical hernia, Hirsutism |
OMIM:617237 |
Stickler Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Osteoarthritis, Uveitis... |
ORPHA:828 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Thick eyebrow, Exaggerated cupid's bow, Fused teeth, High palate, Gastroes... |
OMIM:300896 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bronchiectasis, Recurrent pne... |
OMIM:300755 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Short toe, Chronic diarrhea, Thyroiditis, Erythr... |
ORPHA:39041 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvi... |
ORPHA:93271 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Feeding dif... |
ORPHA:476126 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Cyclic neutropenia, Chronic pancrea... |
OMIM:232240 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Glomerulonephritis, Synophrys, Hip dislocation, Gingival overgrowth, Fine hair, Chronic constipat... |
OMIM:619428 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Erythrodontia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes,... |
OMIM:263700 |
Ogden Syndrome |
|
Microretrognathia, Inguinal hernia, Everted upper lip vermilion, Broad hallux, High, narrow palat... |
ORPHA:276432 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Polycystic ovaries, High anterior hairline, Polyphagia, Hirsutism |
OMIM:616831 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... |
ORPHA:131 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails... |
ORPHA:235 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi... |
ORPHA:202 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, High, narrow palate, 2-3 t... |
ORPHA:3166 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Enlarged kidney,... |
OMIM:314390 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Feeding difficulties, Downturned corners of mouth, Constipation, Gastroeso... |
OMIM:617865 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Scarring alopecia of scalp, Flexion contracture, Atr... |
ORPHA:158684 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Intrah... |
OMIM:614887 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Coarse... |
ORPHA:75389 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Diabetes mellitus, Proteinuria, Abnormal renal medulla... |
ORPHA:439232 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro... |
OMIM:200600 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal oral mucosa morphology, Anorexia, Splenomeg... |
ORPHA:507 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S... |
ORPHA:1433 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Overlappi... |
ORPHA:83617 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hepatomegaly, Thick eyebrow, Splenomegaly, Coarse hair, Broad thumb, Smooth... |
ORPHA:585 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Bilateral cryptorchidism, Obesi... |
OMIM:619471 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia... |
OMIM:619752 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Arthritis, Con... |
ORPHA:732 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarr... |
ORPHA:436159 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Tics, High palate, Compulsive behaviors, Micropenis, Abnormal rep... |
OMIM:619475 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... |
OMIM:615356 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... |
OMIM:617392 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Hepatomegaly, Tented upper lip vermilion, Tapered toe, Shoulder flexion contract... |
OMIM:620369 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair, Ataxia |
ORPHA:79476 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, O... |
OMIM:615122 |
Koolen-De Vries Syndrome |
|
Eczema, Cleft upper lip, Feeding difficulties in infancy, Abnormality of hair texture, Patent duc... |
OMIM:610443 |
Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Chronic constipation, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,... |
OMIM:607361 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Microgna... |
OMIM:601803 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Polyda... |
ORPHA:93400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... |
OMIM:619950 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Abnormality of hair texture, Feeding difficulties, Gastroesophageal reflux, Vomi... |
ORPHA:79351 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Decreased response to growth hormone stimulati... |
OMIM:615873 |
Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Abnormality of the thyroid gland, Thick lower lip ve... |
ORPHA:2563 |
Adnp Syndrome |
|
Oral-pharyngeal dysphagia, Abnormal finger morphology, Vomiting, Gastroesophageal reflux, Advance... |
ORPHA:404448 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Vomiting, Pancreatic calcification |
ORPHA:677 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Feeding difficulties, Cholestatic liver disease, Hypoketotic hypoglyc... |
ORPHA:5 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... |
OMIM:301068 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Reye syndrome-like... |
ORPHA:26791 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Curly hair, Tented upper lip vermilion, Sparse eyebrow, Synophrys, Thic... |
OMIM:620075 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Tapered finger, Hiatus hernia, Cryptorchidism, Broad fingertip, Small hand,... |
ORPHA:2896 |
Giant Axonal Neuropathy |
|
Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ... |
ORPHA:643 |
Lig4 Syndrome |
|
Hepatomegaly, Micrognathia, Cryptorchidism, Low anterior hairline, Thin vermilion border, Type II... |
ORPHA:99812 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Premature loss of primary teet... |
ORPHA:667 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ... |
ORPHA:1031 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo... |
OMIM:601345 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Arachnodactyly, Micrognathia, Feeding difficulties, Wide mouth, Chronic constipation,... |
OMIM:300986 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... |
ORPHA:740 |
Olmsted Syndrome 2 |
|
Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, Nail dystrophy, Hypercholesterolemia, Decreased testicular size |
OMIM:610644 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100082 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Narrow mouth... |
OMIM:608013 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Gastroesophageal reflux, High palate, Broad... |
OMIM:619472 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis |
OMIM:308240 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Oligo... |
OMIM:612289 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, 2-3 toe syndactyly, Short foot, Coarse hair, Widely spaced teeth, Smooth p... |
OMIM:616351 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Vomiting, Hepatic fibrosis |
ORPHA:33402 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Eczema, Gingival overgrowth, Rhizomel... |
ORPHA:508542 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Neonatal hypoglycemia, Cardiomegaly, Macroglossia, Ascites, Enlarged kidney |
OMIM:261740 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Dysphagia |
OMIM:617802 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hirsutism, Gingival overgrowth... |
ORPHA:313855 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Thin upper lip vermilion, Albinism, Carious teeth, Splenomegaly, Recurrent pneumoni... |
OMIM:608233 |
Scedosporiosis |
|
Fever, Diabetes mellitus, Abnormal jejunum morphology, Abnormal renal morphology |
ORPHA:449280 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Abnormality of the pancreas, White hair, Fine hair, Long fibula, Abnormal metaph... |
ORPHA:935 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Paronychia, Hypogeusia, Low alkaline phospha... |
OMIM:201100 |
Dengue Fever |
|
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrh... |
ORPHA:99828 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Highly arched eyebrow, Micrognathia, Feeding difficulties, Chronic constipation, Th... |
OMIM:619695 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ch... |
OMIM:620072 |
Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... |
OMIM:612469 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Thick upper lip vermilion, Inguinal hernia, Delayed eruption of teeth, Thin upper li... |
OMIM:247200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Micrognathia, Hypoplastic toenails, Sparse eyeb... |
OMIM:616901 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Omphalocele, Hypoperistalsis, Abdominal distention, Cryptorchidism, Umbilica... |
ORPHA:2241 |
Pycnodysostosis |
|
Ridged nail, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teet... |
OMIM:265800 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Tapered finger, Precocious puberty, Abnormality of the dentition, T... |
ORPHA:261652 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Sparse axillary hair, Sparse pubic hair, 3-4 finger cut... |
OMIM:181270 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... |
OMIM:606056 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100080 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Adenoma sebaceum, Preauricular hai... |
OMIM:191100 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly... |
OMIM:614700 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Wide mouth, Thick v... |
OMIM:611553 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:2136 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Mic... |
ORPHA:96191 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t... |
OMIM:224300 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hirsutism, Hepatosplenomegaly, Hydrocele testis,... |
ORPHA:79330 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidi... |
OMIM:610253 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... |
ORPHA:2131 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ... |
ORPHA:373 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Prominent interphalangea... |
OMIM:618371 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of the dentition... |
OMIM:612394 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... |
ORPHA:798 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Curly hair, Coxa valga, Short tubular bones of the hand, Micrognathia, ... |
ORPHA:85184 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Persistence of primary teeth, Cryptor... |
ORPHA:97360 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis... |
OMIM:615387 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Slender long bone, Short 5th finger, High palate,... |
OMIM:612921 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Patent ductus arteriosus, Coxa vara, Fine hair, Narrow pelvis bon... |
ORPHA:2637 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Dental crowding, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft p... |
OMIM:130720 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, H... |
ORPHA:400 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ulnar deviation of the hand, Tapered finger, Cryptorchidism, Hip dislocation, Narrow ... |
OMIM:619435 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Hypogonadism, B... |
ORPHA:228390 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Synophrys,... |
OMIM:603457 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Generalized h... |
ORPHA:744 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Tubulointerstitial nephritis, Vomiting, Pancreatitis |
OMIM:251000 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Bowel urgency, Poor appetite, A... |
ORPHA:100075 |
Cerebrofaciothoracic Dysplasia |
|
Thick eyebrow, Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft palate, Low posterior hai... |
ORPHA:1394 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Perianal abscess, Splenomegaly, Patent ductus arteriosus, Cryptorc... |
OMIM:612541 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Synophrys, Long penis, Meckel diverticulum |
OMIM:190440 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Neonat... |
ORPHA:1667 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement of thumb, Hyper... |
OMIM:620370 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse... |
ORPHA:113 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Cutaneous ... |
OMIM:211380 |
Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Absent nipple, Sparse sc... |
ORPHA:978 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Hypothyroidism, D... |
ORPHA:1882 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap... |
OMIM:194080 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Sparse scalp hair, Arac... |
ORPHA:394 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Momo Syndrome |
|
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Larg... |
OMIM:157980 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Gingival overgrowth, Decreased beta-galactosidase ac... |
OMIM:230500 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Elevated circulating growth horm... |
ORPHA:97287 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Camptodactyly of finger, Coxa valga, Short foot, Wide mouth, Short long... |
OMIM:231050 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal mass, Abdominal pain, Abdominal distention... |
ORPHA:160 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Cryptorchidism, Patent ductus arteriosus, Feeding difficulties, Left ventricu... |
OMIM:615355 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Gastroesophageal... |
OMIM:300373 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Dysphagia, Oligodontia, Hypodontia, Del... |
ORPHA:447896 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Osteomyelitis, Acne, Abnormal ... |
ORPHA:2796 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... |
ORPHA:2752 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont... |
OMIM:614381 |
Leptospirosis |
|
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, J... |
ORPHA:509 |
Endocrine-Cerebroosteodysplasia |
|
Micromelia, Adrenal hypoplasia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper li... |
OMIM:612651 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Peri... |
ORPHA:343 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate, P... |
OMIM:616038 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Feeding difficulties in infancy, High palate, Elevated gamma-glutamyltransferase le... |
OMIM:614866 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Apert Syndrome |
|
Mandibular prognathia, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic otit... |
OMIM:101200 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Trisomy 9P |
|
Hypoplastic fingernail, Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted to... |
ORPHA:236 |
Marchiafava-Bignami Disease |
|
Fever, Ataxia, Urinary incontinence, Aggressive behavior, Gait ataxia, Gait disturbance, Addictiv... |
ORPHA:221074 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Exocrine pan... |
ORPHA:309031 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... |
OMIM:235555 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Abnormality of the endocrine system, Hypoplastic nipples, Nail dysplas... |
OMIM:129550 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hyp... |
OMIM:619321 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas... |
ORPHA:1318 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... |
ORPHA:480520 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... |
OMIM:610768 |
Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Micrognathia, Feeding diffic... |
ORPHA:648 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abdominal pain, Jaundice, Biliary tract abnormality, Abnormality of the liver |
ORPHA:234 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Isolated Osteopoikilosis |
|
Abnormality of the kidney, Abnormality of the endocrine system, Cleft palate, Addictive alcohol u... |
ORPHA:166119 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Functional ab... |
ORPHA:90362 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Enlarged ovaries, Inguinal hernia, Congenital diaphragmatic hernia, Mic... |
ORPHA:2745 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Recurrent skin infections, Allergic rhinitis, Eczema, Brittle sc... |
OMIM:256500 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o... |
OMIM:204690 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Feeding difficulties in infancy, Promin... |
OMIM:135900 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malfo... |
OMIM:249000 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Juvenile r... |
ORPHA:85414 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Chronic diarrhea, Oral ulcer, Otiti... |
OMIM:602450 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Abnormality of the dentition, Feeding difficulties in infancy, Hy... |
OMIM:617140 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... |
OMIM:113300 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contracture, ... |
OMIM:618891 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos... |
ORPHA:3238 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Exaggerated median ton... |
OMIM:312870 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Micro... |
OMIM:143095 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Hip dislocation,... |
OMIM:614438 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Leopard Syndrome 2 |
|
Mandibular prognathia, Curly hair, Thick lower lip vermilion |
OMIM:611554 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Facial hyperostosis, Submucous clef... |
ORPHA:2780 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Cardiomegaly, Abnormal circulating A... |
ORPHA:57777 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Pili torti |
ORPHA:1573 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Chronic muc... |
OMIM:158310 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis, Gingival ble... |
ORPHA:77259 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea, Cleft palate |
OMIM:270420 |
Williams Syndrome |
|
Cardiomegaly, Micrognathia, Hypoplastic toenails, Gastroesophageal reflux, Clinodactyly of the 5t... |
ORPHA:904 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Feeding difficulties in infancy, Ab... |
ORPHA:1340 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... |
OMIM:608978 |
Noonan Syndrome 7 |
|
Curly hair, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Low posterior h... |
OMIM:613706 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft ... |
OMIM:617925 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Fine hair, Thin vermilion border, Hypoplasia of... |
OMIM:614800 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Crypt... |
OMIM:619244 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Feeding difficulties in infancy, Congenital diaphragmati... |
ORPHA:199 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Johanson-Blizzard Syndrome |
|
Downturned corners of mouth, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Clinodac... |
OMIM:243800 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A... |
ORPHA:79076 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Gastroesophageal reflux... |
ORPHA:779 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Seborrheic dermatitis, Micrognathi... |
ORPHA:369950 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at... |
OMIM:115470 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... |
OMIM:620099 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Abnormal dental enamel morphology, Anorexi... |
ORPHA:79430 |
Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Abnormality of connective tissue, Difficulty walking |
ORPHA:399180 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Fraser Syndrome 2 |
|
Abdominal distention, Low anterior hairline, Cutaneous syndactyly, Hypoplasia of the thymus, Narr... |
OMIM:617666 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Hypo... |
ORPHA:920 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Aplasi... |
OMIM:102700 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diff... |
OMIM:253260 |
Vascular Hyalinosis |
|
Malabsorption, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Chorioretinal... |
OMIM:277175 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Feeding difficulties in infancy, Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sp... |
OMIM:617506 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye... |
OMIM:300166 |
Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... |
ORPHA:2968 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Enlarged kidney, Polycystic kidney dys... |
OMIM:613091 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Sparse facial hair, Sparse eyelashes, Sparse eyebrow, Metaphyseal widening... |
OMIM:250250 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Bronch... |
OMIM:616100 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Recurrent otitis media, Recurrent aphthous stomatitis, Chronic oral c... |
OMIM:301078 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Exocrine pancreatic insufficiency, Diarrhea, Metaphyseal widening, High palate, Hyp... |
OMIM:617941 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal cyst, Hypospadi... |
OMIM:229850 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hyperconvex fingernails, Coarse h... |
OMIM:303600 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis,... |
OMIM:615895 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Elevated alkaline phosphatase of bone origin, Abnormal sacroiliac join... |
ORPHA:289176 |
Noonan Syndrome 4 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion bord... |
OMIM:610733 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Splenomegaly, Deep philtrum, Cryptorchidism, Hepatosplenomegaly, Low poste... |
OMIM:613563 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Abdominal distention, Peritonitis, Pyelonephritis |
OMIM:619351 |
Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Wide mouth, Rhinitis, Everted lower lip vermilion, Thick vermilion bo... |
ORPHA:93474 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Hepatomegaly, Abdominal colic, Elevated hepatic transaminase, Functional int... |
ORPHA:100079 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Dysphagia, Neoplasm of the tongue, A... |
ORPHA:100026 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Tooth agenesis, Nail dystrophy, Woolly hair, Fragile nails, Gingival recession |
OMIM:615821 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Highly arched eyebrow, Cryptorchidism, Short toe, Patent ductus a... |
ORPHA:1519 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Oro... |
ORPHA:77301 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Talipes equinovarus, Hand... |
OMIM:617988 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Splenomegaly, Gingivitis, Otitis media, Inflammat... |
ORPHA:379 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Open... |
ORPHA:1974 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Aphtho... |
OMIM:249100 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Supernumerary nipple, Abdominal distention, Patent ductus arteriosus, ... |
OMIM:235730 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Macroorchidism, Abnormal morphology of ulna... |
ORPHA:93 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, Sparse hair, ... |
OMIM:620186 |
Tarp Syndrome |
|
Broad-based gait, Cyanosis, Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, ... |
ORPHA:2886 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Feeding difficulties, Sparse hair |
OMIM:613224 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Inguinal hernia, Sparse scalp hair, Eczema, Cryptorchidism, Feeding difficulties, Loo... |
OMIM:607721 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Hepatomegaly, Aplastic clavicle, Hiatus hernia, Abnormality of... |
ORPHA:2538 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Hydronephrosis, Sel... |
OMIM:620330 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Low anterior hairline, Premature graying of h... |
OMIM:619488 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatitis, Fine hair, V... |
OMIM:222700 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia... |
ORPHA:139466 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Metaphyseal sclerosis, Metaphys... |
OMIM:260400 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Acute Promyelocytic Leukemia |
|
Fever, Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia... |
ORPHA:520 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Abdominal distention, Abnormal iliac wi... |
ORPHA:3003 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Co... |
OMIM:118650 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Transient neutropenia, Chronic ... |
ORPHA:500095 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Dila... |
OMIM:265380 |
Fabry Disease |
|
Fever, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Malabsorption, Hyperlipidemia,... |
ORPHA:324 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Abdominal pain, Splenomegaly... |
ORPHA:163746 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Hepatic hemangioma, Hypertrichosis, Abdominal pain |
ORPHA:2330 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, High, narrow palate, Cryptorchidism, Low posterior hairline, Wide mou... |
OMIM:619745 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... |
ORPHA:53715 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Elevated circulatin... |
OMIM:616026 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Slender long bone, Coarse hair, Thick vermilion border |
ORPHA:1185 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... |
ORPHA:3214 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Tapered finger, Cyst o... |
ORPHA:480880 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, Athetosis, High ... |
OMIM:311900 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left hemidiaph... |
ORPHA:2847 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair, Coxa valga |
OMIM:616943 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Cryptorchidism, Abnormal mesentery morphology, Malrotation of small bowel, Funct... |
ORPHA:2953 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, E... |
OMIM:182250 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:1930 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Inguinal hernia |
OMIM:271520 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... |
OMIM:605479 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... |
ORPHA:319213 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Feeding difficulties in ... |
ORPHA:1675 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, A... |
OMIM:614940 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Curly hair |
OMIM:615279 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevat... |
OMIM:235400 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Bilateral cryptorchidism, Fine... |
OMIM:613451 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Microvesicu... |
OMIM:203700 |
Eisenmenger Syndrome |
|
Hepatomegaly, Abdominal distention, Patent ductus arteriosus, Clubbing, Abnormality of the liver,... |
ORPHA:97214 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Skin rash |
OMIM:601979 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Abnormality of the dentition, Fine hair, Keratoconjunctivitis sic... |
ORPHA:1806 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyl... |
ORPHA:672 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Brittle hair, Macrodontia, Malar flattening, Mic... |
OMIM:309500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, High palate, Gastroesophageal reflux, Hypothyroidism, Bifid uvula, Sel... |
OMIM:607872 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, ... |
OMIM:275210 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Vomiting, Talipes equinovarus |
OMIM:256850 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair, Gastroesophageal reflux, Hiatus hernia |
OMIM:619603 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Congenital diaphragmatic her... |
OMIM:618280 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Pyelonep... |
ORPHA:2036 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Diarrhea, Hypoplasia of the thymus, Erythroderma |
OMIM:603554 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Abnormality of the hypothalamus-pituitary axis... |
ORPHA:84 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Conical tooth, Splenomegaly, Chronic diarrhea, Aplasia of the sw... |
OMIM:612132 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Recurrent pneumonia, Biliary cirrhosis, Bronchiect... |
OMIM:219700 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral fren... |
ORPHA:1401 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Eczema, Poor appetite, Delayed eruption of primary teeth, Thin nail, Gastrointes... |
OMIM:617799 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Metaphyseal sclerosis, Genu valgum, Premature graying of hair, Fine hai... |
OMIM:612199 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capitate-hamate fusion, Chronic ... |
OMIM:304150 |
Noonan Syndrome 2 |
|
Curly hair, Micrognathia, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Low posterior... |
OMIM:605275 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Clubbing of fingers, Nail dystrophy, ... |
OMIM:605676 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Low anterior ha... |
OMIM:618569 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos... |
OMIM:617088 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Abnormal eyelas... |
ORPHA:2556 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... |
OMIM:300990 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Wrinkly Skin Syndrome |
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Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Short ... |
OMIM:278250 |
Rodrigues Blindness |
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Sparse hair, Tooth malposition, Fine hair |
OMIM:268320 |
Congenital Nephrotic Syndrome, Finnish Type |
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Delayed eruption of permanent teeth |
ORPHA:839 |
Familial Osteodysplasia, Anderson Type |
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Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ... |
ORPHA:2769 |
Adrenomyeloneuropathy |
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Very long chain fatty acid accumulation, Bowel incontinence, Frontal balding, Intra-oral hyperpig... |
ORPHA:139399 |
Barber-Say Syndrome |
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Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni... |
ORPHA:1231 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure... |
ORPHA:2250 |
Microvillus Inclusion Disease |
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Abdominal distention, Diarrhea |
ORPHA:2290 |
Whim Syndrome |
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Abnormal small intestine morphology, Lymphadenitis, Neutropenia, Abnormal neutrophil morphology, ... |
ORPHA:51636 |
Bjornstad Syndrome |
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Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Brucellosis |
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Liver abscess, Anorexia, Knee osteoarthritis, Abnormality of the liver, Vomiting, Infectious ence... |
ORPHA:1304 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Natal tooth, Overlapping toe, Feeding difficulties in infancy, Gingival overgrowth, Narrow palate... |
OMIM:123790 |
Costello Syndrome |
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Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Hypoglycemia, Thin nail, Mic... |
OMIM:218040 |
Dextrocardia |
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Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... |
ORPHA:1666 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Amelogenesis imperfecta |
OMIM:248190 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Micrognathia, Persistence of... |
ORPHA:2785 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Alopecia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Fine hair, Prematu... |
OMIM:613990 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... |
ORPHA:93325 |
Lymphatic Malformation 7 |
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Abdominal distention, Ascites |
OMIM:617300 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail |
OMIM:601319 |
Amaurosis-Hypertrichosis Syndrome |
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Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Trisomy 8P |
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Multiple joint contractures, Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Cleft... |
ORPHA:264450 |
Trichothiodystrophy 7, Nonphotosensitive |
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Tiger tail banding, Brittle hair |
OMIM:618546 |
Sotos Syndrome |
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No permanent dentition, Flexion contracture, Gastroesophageal reflux, Chronic otitis media, Hypot... |
ORPHA:821 |
Noonan Syndrome 1 |
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Micrognathia, Feeding difficulties in infancy, High, narrow palate, Patent ductus arteriosus, Cry... |
OMIM:163950 |
Woolly Hair, Autosomal Dominant |
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Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Finger syndactyly, Hepatomegaly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the... |
OMIM:620025 |
Abetalipoproteinemia |
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Fat malabsorption, Abetalipoproteinemia, Ataxia, Acanthocytosis |
OMIM:200100 |
Neuroocular Syndrome |
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Hyperextensibility of the finger joints, Brittle hair, Synophrys, Downturned corners of mouth, Wi... |
OMIM:619539 |
Vascular Ehlers-Danlos Syndrome |
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Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Ging... |
ORPHA:286 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Microg... |
OMIM:606170 |
Chand Syndrome |
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Curly hair, Commissural lip pit, Nail dysplasia |
OMIM:214350 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Hyperlipidemia, Hematuria, Hyperuricemia |
ORPHA:35909 |
Klatskin Tumor |
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Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splen... |
OMIM:613471 |
Leopard Syndrome 3 |
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Curly hair, Low posterior hairline |
OMIM:613707 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, H... |
OMIM:614188 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Currarino Syndrome |
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Perianal abscess, Gastrointestinal obstruction, Chronic constipation, Abdominal distention |
OMIM:176450 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downtur... |
ORPHA:500150 |
Mosaic Trisomy 16 |
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Abnormality of the gastrointestinal tract, Small for gestational age, Hypospadias, Maternal diabe... |
ORPHA:1708 |
Copper Deficiency, Familial Benign |
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Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
Hypotrichosis 13 |
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Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death, Abdominal distention |
OMIM:619362 |
Plague |
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Glossitis, Hepatomegaly, Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomeg... |
ORPHA:707 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... |
OMIM:611376 |
Floating-Harbor Syndrome |
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Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Gastroesophageal reflux, Short ph... |
ORPHA:2044 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Gastrointestinal dysmotility... |
ORPHA:2152 |
Aspartylglucosaminuria |
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Hepatomegaly, Acne, Diarrhea, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mouth,... |
OMIM:208400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
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Woolly hair |
OMIM:611528 |
Restrictive Dermopathy |
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Natal tooth, Multiple joint contractures, Camptodactyly of finger, Short nail, Micrognathia, Spar... |
ORPHA:1662 |
Noonan Syndrome 9 |
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Sparse eyebrow, Curly hair, Cryptorchidism |
OMIM:616559 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Scarring, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome... |
OMIM:601776 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl... |
ORPHA:261537 |
Charge Syndrome |
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Delayed eruption of teeth, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cleft upper lip,... |
ORPHA:138 |
Sabinas Brittle Hair Syndrome |
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Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
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Macroglossia, Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absen... |
OMIM:219000 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukoc... |
OMIM:274000 |
Noonan Syndrome 10 |
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Curly hair, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, High palate, Left ventricul... |
OMIM:616564 |
Congenital Tracheal Stenosis |
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Cyanosis, Abnormality of the kidney, Fetal ascites, Abnormal stomach morphology, Abnormality of t... |
ORPHA:141127 |
Meier-Gorlin Syndrome 7 |
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Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... |
OMIM:617063 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Fl... |
ORPHA:261552 |
Uncombable Hair Syndrome 1 |
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Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Naxos Disease |
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Subungual hyperkeratosis, Curly hair, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... |
OMIM:601214 |
Pancreas, Annular |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
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Woolly hair, Dystrophic toenail |
OMIM:619209 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Small for gestational age, Hypospadias, Highly arched eyebrow, Precocious puber... |
OMIM:194190 |
Ramon Syndrome |
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Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Juvenile rheumatoid arthritis, H... |
OMIM:266270 |
Revesz Syndrome |
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Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail |
OMIM:268130 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Splenomegaly, Brittle hair |
OMIM:616084 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth, Thyroid C cell hyperplasia |
OMIM:300952 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Crypto... |
OMIM:309800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
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Woolly hair |
OMIM:607450 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Paten... |
OMIM:615948 |
Onychotrichodysplasia And Neutropenia |
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Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Autosomal Recessive Cutis Laxa Type 1 |
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Inguinal hernia, Small bowel diverticula, Recurrent urinary tract infections, Pyloric stenosis, P... |
ORPHA:90349 |
Atresia Of Urethra |
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Abdominal distention, Ascites |
ORPHA:105 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
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Woolly hair |
OMIM:610193 |
Autosomal Dominant Cutis Laxa |
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Inguinal hernia, Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Hernia, Small b... |
ORPHA:90348 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Narr... |
OMIM:614748 |