Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Medial Condensing Osteitis Of The Clavicle |
|
Shoulder pain, Elevated circulating C-reactive protein concentration, Limited shoulder movement, ... |
ORPHA:57196 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Arth... |
OMIM:228600 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy |
ORPHA:3416 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:146750 |
Paget Disease Of Bone 4 |
|
Bone pain, Osteolysis |
OMIM:606263 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ... |
ORPHA:970 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Neoplasm of the stomach, Hematologica... |
ORPHA:587 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... |
ORPHA:2790 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Arthralgia, Foot pain |
ORPHA:564003 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac... |
ORPHA:3152 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Peptic ulcer, Elevated circulating growth hormone c... |
OMIM:131100 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... |
ORPHA:52430 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain,... |
ORPHA:73 |
Dermoodontodysplasia |
|
Thin skin, Trichodysplasia |
OMIM:125640 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Ramon Syndrome |
|
Diabetes mellitus, Failure to thrive, Abnormal dental enamel morphology, Osteolysis |
ORPHA:3019 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia |
ORPHA:158014 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Pyle Disease |
|
Thin bony cortex, Reduced bone mineral density, Arthralgia, Limited elbow extension, Muscle weakness |
OMIM:265900 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Osteosarcoma |
|
Pain, Pathologic fracture, Osteolysis, Weight loss |
ORPHA:668 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Aggressive Systemic Mastocytosis |
|
Fatigue, Pancytopenia, Abdominal pain, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, ... |
ORPHA:98850 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Skin rash, Thin skin |
ORPHA:1658 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Breast carcinoma, Sto... |
ORPHA:79501 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of ... |
ORPHA:166277 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Osteoporosis, Gout, Incre... |
OMIM:610947 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Classic Hodgkin Lymphoma |
|
Fatigue, Splenomegaly, Bone pain, Osteolysis, Weight loss, Chest pain |
ORPHA:391 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Eczema, Sparse body hair, Thin skin |
ORPHA:1810 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Erythematous plaque, Dermal atrophy, Thin skin, Dystrophic fing... |
ORPHA:158673 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteo... |
ORPHA:324964 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis |
ORPHA:735 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Limitation of joint mobility, Osteolysis, Arthralgia, Groin pain, Localized oste... |
ORPHA:66627 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Bone pain, Osteolysis, Abnormal adipose tissue morp... |
ORPHA:93160 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Ollier Disease |
|
Bone pain, Osteolysis, Anemia, Joint stiffness |
ORPHA:296 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Den... |
OMIM:619795 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma |
ORPHA:493 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... |
ORPHA:293964 |
Tuberous Sclerosis 1 |
|
Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... |
OMIM:191100 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Desmoid Tumor |
|
Abdominal pain, Limitation of joint mobility, Osteolysis, Arthralgia, Myalgia, Chest pain |
ORPHA:873 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... |
ORPHA:2774 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:607398 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Nail dystrophy, Skin plaque, Milia... |
ORPHA:89843 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... |
ORPHA:210548 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Sparse body hair |
ORPHA:1660 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Papilloma, Hemangioma |
ORPHA:464318 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Elevated circulating C-rea... |
OMIM:612852 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Fine hair |
ORPHA:2500 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... |
OMIM:135150 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Arthritis, Arthralgia, Abnormal cortical bone morphology |
ORPHA:1525 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... |
ORPHA:35878 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Slender build, Joint hypermobility |
OMIM:300831 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal cortical bone morphology, Recurrent fractures, Limitation of jo... |
ORPHA:1486 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... |
OMIM:619101 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Pruritus, Atrophic scars, Nevus, Skin erosion, Milia, ... |
ORPHA:89838 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Omphalocele, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,... |
ORPHA:371428 |
Maffucci Syndrome |
|
Bone pain, Recurrent fractures, Osteolysis |
ORPHA:163634 |
Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h... |
OMIM:176920 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fr... |
OMIM:602080 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis... |
ORPHA:75234 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... |
OMIM:600081 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Arthralgia, Limited elbow f... |
ORPHA:79106 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Chondrocalcinosis |
ORPHA:2591 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Atypical sca... |
ORPHA:2485 |
Gamma-Heavy Chain Disease |
|
Fatigue, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia... |
ORPHA:100026 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... |
ORPHA:1310 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Umbilical hernia |
ORPHA:137834 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Hutchinson-Gilford Progeria Syndrome |
|
Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Ulerythema Ophryogenesis |
|
Acne, Erythematous papule, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis, Sparse late... |
ORPHA:3406 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Arthralgia, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
Felty Syndrome |
|
Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Neutropenia, Osteolysis, Synovitis,... |
ORPHA:47612 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... |
ORPHA:144 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate |
OMIM:618010 |
Gardner Syndrome |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Abdominal pain, Hypersplenism, Thromboc... |
ORPHA:77259 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Intestinal polyposis, Multiple exostoses |
OMIM:175450 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Skin dimple, Thin skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Sebocystomatosis |
|
Steatocystoma multiplex, Adenoma sebaceum |
ORPHA:841 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating selenium concentration |
ORPHA:171706 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... |
ORPHA:90153 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis |
OMIM:620282 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic... |
ORPHA:90154 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous ... |
ORPHA:249 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Osteolysis, Arthritis, Arthralgia, Muscle weakness |
ORPHA:220393 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Thin skin |
OMIM:617364 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Leukonychia Totalis |
|
Adenoma sebaceum, Blepharitis |
ORPHA:2387 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... |
OMIM:603552 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bo... |
OMIM:264700 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Palmoplantar keratoderma, Adenoma sebaceum, Neoplasm of the skin |
ORPHA:3353 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma |
OMIM:615024 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... |
ORPHA:388 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Intermediate Osteopetrosis |
|
Back pain, Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Th... |
ORPHA:210110 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys... |
OMIM:614008 |
Mixed Connective Tissue Disease |
|
Fatigue, Hemolytic anemia, Myositis, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukop... |
ORPHA:809 |
Vitamin D-Dependent Rickets, Type 2A |
|
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bo... |
OMIM:277440 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Increased susceptibility to fr... |
ORPHA:289157 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Thickened c... |
OMIM:607634 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
OMIM:173200 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... |
OMIM:174900 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... |
ORPHA:251992 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Atrophic scars, Skin pit, Hyp... |
ORPHA:79100 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr... |
ORPHA:276556 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus |
ORPHA:409 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abdominal pain, Craniofacial osteosclerosis, Bone pain, Osteo... |
ORPHA:793 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue |
ORPHA:71529 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Bone pain, A... |
ORPHA:2796 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Temple Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Cryptorchidism, Flexion contracture, Cleft palat... |
OMIM:616222 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Mechanical ileus,... |
ORPHA:100079 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Diabetes mellitus, Microcytic anemia, O... |
ORPHA:168569 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... |
ORPHA:276580 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Spars... |
ORPHA:79402 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... |
OMIM:300554 |
Gaucher Disease Type 3 |
|
Fatigue, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Ophthalmoplegia, Splenom... |
ORPHA:77261 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Atypical scarring of skin, Atrophic scars, T... |
ORPHA:75496 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Fasting hyp... |
ORPHA:276575 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis |
OMIM:175900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... |
OMIM:607823 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Umbilical hernia, Generalized osteoporosi... |
OMIM:617952 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondr... |
OMIM:620189 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Linear Nevus Sebaceus Syndrome |
|
Adenoma sebaceum, Cavernous hemangioma |
ORPHA:2612 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit... |
OMIM:174800 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Lymphoma, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm... |
ORPHA:454 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... |
OMIM:109130 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:618736 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... |
ORPHA:276608 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Glycosuri... |
OMIM:300009 |
Analbuminemia |
|
Fatigue, Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased L... |
OMIM:616000 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypertriglyceridemia, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar... |
OMIM:610644 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hemangioma, Intestinal polyp, Cryptorchidism |
ORPHA:457485 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Chromomycosis |
|
Atypical scarring of skin, Ankylosis, Osteolysis |
ORPHA:182 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Hypoplastic nipples, T... |
OMIM:103285 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho... |
ORPHA:263665 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia |
OMIM:201400 |
Cowden Syndrome 6 |
|
Colonic diverticula, Goiter, Fibroadenoma of the breast, Thyroiditis, Palmoplantar hyperkeratosis... |
OMIM:615109 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Thin skin |
ORPHA:98892 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Cowden Syndrome 1 |
|
Colonic diverticula, Goiter, Fibroadenoma of the breast, Thyroiditis, Palmoplantar hyperkeratosis... |
OMIM:158350 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
Gaucher Disease |
|
Osteopenia, Fatigue, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fract... |
ORPHA:355 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Papule |
ORPHA:525 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Hyperbilirubinemia, Decreased body weight, Elevated circulating long chai... |
OMIM:614886 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Generalized hirsutism, Thin skin |
ORPHA:2348 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Polycystic ovaries, Macro... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
Erdheim-Chester Disease |
|
Fatigue, Increased bone mineral density, Osteomyelitis, Abdominal pain, Bone pain, Osteolysis, We... |
ORPHA:35687 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Neonatal death |
OMIM:610015 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin, Sparse hair, Aplasia cuti... |
ORPHA:217346 |
Kaposiform Lymphangiomatosis |
|
Exercise intolerance, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, He... |
ORPHA:464329 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... |
ORPHA:199296 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Lymphoma, Generalized lipody... |
ORPHA:79086 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:157965 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy... |
ORPHA:2484 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, A... |
ORPHA:171 |
Cowden Syndrome 5 |
|
Colonic diverticula, Goiter, Thyroiditis, Palmoplantar hyperkeratosis, Breast carcinoma, Hamartom... |
OMIM:615108 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen |
OMIM:617872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Decreased plasma free carnitine, Hypoglycemia |
OMIM:619048 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... |
ORPHA:251393 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... |
OMIM:617591 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... |
ORPHA:90280 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Muscle hemorrhage, Os... |
ORPHA:464321 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Lateral v... |
ORPHA:79243 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic... |
ORPHA:978 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Cigarette-paper scars, Thin skin, Webbed neck |
OMIM:612350 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Trichorrhexis nodosa, Breast aplasia, Thin ski... |
ORPHA:238468 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... |
OMIM:619386 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:617525 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries, Increased intraabdominal f... |
ORPHA:79085 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... |
ORPHA:540 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis |
ORPHA:1764 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia |
ORPHA:26792 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Cigarette-paper scars, Liver abscess, Osteolysis |
ORPHA:678 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1899 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Facial hypotonia, Craniosynostosis, Joint stiffness, Cran... |
ORPHA:309282 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Decreased circulating free fatty acid level, Recurrent hypoglycemia, Increased circulating cortis... |
ORPHA:79644 |
Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:246900 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis |
OMIM:613943 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Hemochromatosis, Type 4 |
|
Fatigue, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentrat... |
OMIM:606069 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Ophthalmoplegia, Osteolysis, Chest pain, Limb muscle weakness |
ORPHA:1546 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia |
ORPHA:289504 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Abnorm... |
ORPHA:252164 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Thin skin |
OMIM:219150 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Gastroesophagea... |
OMIM:608971 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
Chikungunya |
|
Fatigue, Shoulder pain, Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Chills, ... |
ORPHA:324625 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Abdominal pain, Elevated circulating c... |
ORPHA:1652 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia... |
ORPHA:89937 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:369 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... |
ORPHA:363618 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Hypoglycemia |
OMIM:617950 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopit... |
OMIM:619013 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Milia, Atrophic scars, Nail dystrophy, Congenital localized absence of skin |
OMIM:226700 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
OMIM:620148 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyper... |
ORPHA:2394 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Hyp... |
ORPHA:2584 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia |
OMIM:182290 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony cortex |
OMIM:230600 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Scarring al... |
ORPHA:95159 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615522 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Inguinal hernia, Failure to thrive, Recurrent fractures, Splenomegaly, Osteoporosis, ... |
ORPHA:955 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... |
OMIM:175500 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia |
OMIM:614736 |
Marshall-Smith Syndrome |
|
Generalized hirsutism, Thin skin |
ORPHA:561 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Fat... |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Minimal change glomerulonephritis, Periorbital edema, Peritonitis, Hypoalbu... |
ORPHA:567548 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:3078 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Cleft palate, Acute lym... |
ORPHA:1052 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Absent eyelashes, Sparse e... |
OMIM:305100 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyeb... |
ORPHA:1807 |
Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema, Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Low back pain, Fatigue, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute ... |
ORPHA:86843 |
Cach Syndrome |
|
Lateral ventricle dilatation |
ORPHA:135 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... |
OMIM:603553 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia, Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility t... |
ORPHA:2769 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... |
OMIM:277700 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Recurrent skin infections, Eczema, Splenomegaly, Increased circulating ferr... |
OMIM:619802 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Visceral angiomatosis, Es... |
ORPHA:774 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90160 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Hypopigmented skin patches, Skin ulcer, Dystrophic toenail, Nail dystrophy, Thin... |
ORPHA:2907 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Thin skin, Hirsutism |
OMIM:219090 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
Mehmo Syndrome |
|
Hypoglycemia |
OMIM:300148 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas |
ORPHA:2396 |
Zygomycosis |
|
Fatigue, Brain abscess, Fasciitis, Diabetes mellitus, Abdominal pain, External ophthalmoplegia, N... |
ORPHA:73263 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:618291 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot |
OMIM:617804 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Nail dystrophy, Thin skin, Erythroderma |
OMIM:615895 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Coccidioidomycosis |
|
Fatigue, Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Atypical sc... |
ORPHA:228123 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Multiple lipomas, Gastroesophag... |
ORPHA:50 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Focal Dermal Hypoplasia |
|
Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Patent ductus... |
ORPHA:2092 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Eosinophilia, Abnormal dental enamel morphology, Osteolysis, Umbilical h... |
ORPHA:464 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dystrophic fingernails, Sparse bod... |
OMIM:150400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Recon Progeroid Syndrome |
|
Hirsutism, Thin skin, Absent lower eyelashes |
OMIM:620370 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Fatigue, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial o... |
OMIM:617994 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Thin skin, Supernumerary nipple, Fine hair |
ORPHA:1812 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Slow-growing hair, Highly arched eyebrow, Patent ductus arteriosus,... |
OMIM:617506 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Flexion contracture, Neoplasm of the breast, Stomach... |
ORPHA:440437 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia |
OMIM:600649 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Fasting hypoglycemia, Glycosuria... |
ORPHA:263455 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Myopathy, Anemia |
ORPHA:3042 |
Pilomatrixoma |
|
Pruritus, Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Thin skin, Fine hair |
OMIM:614438 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Neoplasm, Erythrod... |
ORPHA:2897 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Bronchiectasis, He... |
ORPHA:33110 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Oculodentodigital Dysplasia |
|
Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Cranial hyperostosis, H... |
ORPHA:2710 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Cleft palate, Gastroesophageal reflux, Chronic otitis media, Hypercholester... |
ORPHA:819 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:614702 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule |
ORPHA:257 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, High palate, Intrauterine growth retardation |
ORPHA:254531 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Osteoporosis... |
OMIM:309583 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90159 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... |
ORPHA:87503 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Hepatospl... |
OMIM:604416 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:202200 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica... |
OMIM:613848 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Thin skin, Striae distensae |
OMIM:219080 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin, Thick eyebrow |
ORPHA:230851 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Thin skin, Striae distensae |
OMIM:610475 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp... |
OMIM:255120 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Exercise intolerance, Inguinal hernia, Small for gestational age, Pancy... |
OMIM:613658 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Lipodystrophy, Functional intestinal obstruction, Increased a... |
ORPHA:199276 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr... |
ORPHA:276152 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Premature Aging Syndrome, Penttinen Type |
|
Skin nodule, Thin skin, Dermal atrophy, Sparse hair, Keloids |
OMIM:601812 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... |
ORPHA:47 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Hypermobile Ehlers-Danlos Syndrome |
|
Fatigue, Inguinal hernia, Osteoarthritis, Limitation of joint mobility, Genital hernia, Osteolysi... |
ORPHA:285 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Thin skin |
OMIM:612313 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Atrophic scars, Nail dystrophy, Aplasia cutis congenita, Milia |
ORPHA:79411 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita |
OMIM:612138 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circulating ... |
OMIM:248600 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita, Patent ductus arteriosus |
OMIM:615297 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen... |
ORPHA:444490 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... |
OMIM:619573 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Hepatomegaly, Adrenoco... |
ORPHA:116 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma total carnitine, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:42 |
Lynch Syndrome 8 |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... |
ORPHA:97279 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... |
OMIM:617100 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Sparse hair |
OMIM:612199 |
Estrogen Resistance |
|
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Necrobiosis Lipoidica |
|
Atrophic scars, Inflammatory abnormality of the skin, Squamous cell carcinoma |
ORPHA:542592 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia |
OMIM:618958 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal circu... |
OMIM:615980 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Hyperalaninemia, Hyperprolinemia, Neonatal hypoglycemia |
OMIM:619046 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Atopic dermatitis, Cellulitis, Recurrent otitis media, Reduced circula... |
OMIM:618944 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Gout, Enterocolitis, ... |
ORPHA:79259 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Thin skin |
OMIM:617602 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Recurrent otitis media, Hypercholest... |
ORPHA:96184 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous atrophy, Malabsorpti... |
ORPHA:398063 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis |
ORPHA:79151 |
Spondyloocular Syndrome |
|
Osteopenia, Muscle weakness, Thin bony cortex, Decreased body weight |
OMIM:605822 |
Lipoid Proteinosis |
|
Acne, Scarring, Pustule, Hyperkeratosis, High palate, Dysphagia, Microglossia, Tongue nodules, Ve... |
ORPHA:530 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hyperglycinemia, Hypertaurinemia |
OMIM:245400 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Short Syndrome |
|
Thin skin |
OMIM:269880 |
Chime Syndrome |
|
Osteolysis, Acute leukemia |
ORPHA:3474 |
Xeroderma Pigmentosum |
|
Macule, Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Thin skin... |
ORPHA:910 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Thin skin |
OMIM:130080 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... |
ORPHA:79474 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypogl... |
OMIM:212138 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ty... |
OMIM:301078 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
De Barsy Syndrome |
|
Sparse hair, Patent ductus arteriosus, Thin skin |
ORPHA:2962 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Preauricular skin tag, Thin skin, Sparse eyebrow |
OMIM:244450 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... |
ORPHA:2298 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach |
ORPHA:618 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... |
ORPHA:2126 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Mildly elevated creatine ... |
OMIM:604484 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:608594 |
Reni Syndrome |
|
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Lymphoproliferative disorder, Abnormality o... |
ORPHA:33276 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Abdominal pain, Osteolysis, Increased susceptibility to fractures, Reduced bone mi... |
ORPHA:652 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation |
ORPHA:300570 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Thin skin |
ORPHA:2719 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation |
ORPHA:565624 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
OMIM:612281 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... |
ORPHA:263501 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation |
OMIM:611209 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary |
ORPHA:66628 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... |
ORPHA:77293 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V... |
ORPHA:397715 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary |
ORPHA:179494 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... |
ORPHA:1787 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Proximal muscle weakness, Hyperlipidemia, Osteoporosis, Increased body wei... |
ORPHA:189427 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A... |
OMIM:256040 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Milia, Thin skin |
OMIM:601559 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita |
OMIM:616854 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Multiple caf... |
ORPHA:100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Osteogenesis Imperfecta |
|
Osteopenia, Inguinal hernia, Small for gestational age, Recurrent fractures, Abnormal dental enam... |
ORPHA:666 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex, Large for gestational age |
OMIM:612731 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Recurrent hypoglycemia, Elevated circulating creatine kinase concentrat... |
OMIM:212140 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inflammation, Hep... |
OMIM:619858 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Distal Deletion 10Q |
|
Lateral ventricle dilatation |
ORPHA:96148 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Long uvula, Cryptor... |
ORPHA:536532 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia |
OMIM:210200 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hypoglycemia, Hyperglycinemia, Hyperammonemia |
OMIM:251000 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis |
ORPHA:330064 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Chest pain |
ORPHA:3318 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... |
OMIM:619313 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Acute lymphoblastic... |
ORPHA:486 |
Geroderma Osteodysplastica |
|
Thin skin |
ORPHA:2078 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia universalis |
OMIM:609638 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
Blue Rubber Bleb Nevus |
|
Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleeding, Gastrointestinal inf... |
ORPHA:1059 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Hypercholesterolemia, Hypoalbuminem... |
OMIM:208920 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
Propionic Acidemia |
|
Hypoglycemia, Hyperglycinemia, Hyperammonemia |
OMIM:606054 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased... |
ORPHA:159 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Thin skin, Sparse hair, Breas... |
ORPHA:920 |
Mulibrey Nanism |
|
Enamel hypoplasia, Thickened cortex of long bones |
OMIM:253250 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Osteoarthritis, Acne, Hyperuricemia |
ORPHA:77296 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated ci... |
ORPHA:3243 |
Congenital Analbuminemia |
|
Lipodystrophy, Facial edema, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hyperchol... |
ORPHA:86816 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... |
OMIM:243700 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... |
OMIM:617253 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph... |
ORPHA:436159 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Pruritus, Splenomegaly |
ORPHA:98848 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Abnormal myelination |
ORPHA:85179 |
Milroy Disease |
|
Angiosarcoma, Hyperkeratosis, Hydrocele testis, Neoplasm of the skin, Cellulitis, Erysipelas |
ORPHA:79452 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Osteoma, Intestinal bleeding, ... |
ORPHA:261584 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1901 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin |
OMIM:254400 |
Temple Syndrome |
|
Recurrent hypoglycemia, Type II diabetes mellitus |
ORPHA:254516 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Hypoalbuminemia, Hypocalcemia, ... |
OMIM:618183 |
Xp21 Deletion Syndrome |
|
Recurrent otitis media, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Cushing Disease |
|
Sparse scalp hair, Acne, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin,... |
ORPHA:96253 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Gout, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia |
OMIM:232200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Lymphoproliferative disorder, Recurrent pneumonia, Bronchiectasis, Chr... |
OMIM:614868 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation |
OMIM:615485 |
Glucagonoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97280 |
Medulloblastoma |
|
Elevated hepatic transaminase, Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor,... |
ORPHA:616 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Rhabdomyosarcoma, Osteoporosis, Osteolysis, Pain, Leukemia, Thickened cortex of long ... |
ORPHA:97685 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Numerous nevi, Thin skin, Atrophic scars |
ORPHA:536471 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:608836 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... |
OMIM:118450 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Lymphoma, Eczema, Myelodysplasia |
OMIM:616871 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation |
OMIM:619487 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Atopic dermatitis, Furrowed tongue, Basal cell carcinoma, Trichoepithelioma, Acne inversa |
OMIM:301845 |
Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:618282 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoi... |
ORPHA:48104 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow, Patent ductus arteriosus, Stillbi... |
OMIM:275210 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia |
ORPHA:453533 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancrea... |
OMIM:612714 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin |
OMIM:181600 |
Bloom Syndrome |
|
Adipose tissue loss, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis m... |
ORPHA:125 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypertriglyceri... |
ORPHA:167 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... |
ORPHA:284426 |
Galloway-Mowat Syndrome 7 |
|
Eczema, Minimal change glomerulonephritis, Cleft palate, High palate, Hypercholesterolemia |
OMIM:618348 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Arterial Tortuosity Syndrome |
|
Thin skin |
OMIM:208050 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Meier-Gorlin Syndrome 1 |
|
Long eyelashes, Breast hypoplasia, Thin skin |
OMIM:224690 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:536467 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Decreased serum iron, Esophageal st... |
ORPHA:89842 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Castleman Disease |
|
Myelofibrosis, Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Fl... |
ORPHA:160 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Facial edema, Periorbital edema, ... |
ORPHA:90186 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperleucinemia, Hyperammonemia |
OMIM:210210 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Facial hypotonia, Decreased ... |
ORPHA:404454 |
Aspartylglucosaminuria |
|
Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Macroglossia, Umbilical hernia, Abnorm... |
ORPHA:93 |
Classic Galactosemia |
|
Hypoglycemia |
ORPHA:79239 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... |
OMIM:601345 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Cleft palate |
ORPHA:289522 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Demyelinating per... |
ORPHA:220295 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Fair hair, Frontal upsweep of hair, Thin skin |
OMIM:266920 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Malabsorption, Pustule, ... |
ORPHA:77297 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Thin bo... |
OMIM:608328 |
Obesity Due To Sim1 Deficiency |
|
Increased resting energy expenditure |
ORPHA:369873 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Dermal atrophy, Sparse body hair |
ORPHA:69735 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Thin skin |
OMIM:151050 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp... |
ORPHA:567983 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:609015 |
Arterial Tortuosity Syndrome |
|
Thin skin |
ORPHA:3342 |
Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cu... |
OMIM:610651 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia |
OMIM:201450 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Hematological neoplasm, Crusting erythe... |
ORPHA:79481 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Breast aplasia |
ORPHA:276413 |
Flynn-Aird Syndrome |
|
Alopecia, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:480864 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia |
OMIM:617710 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal re... |
ORPHA:369837 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Scarring, Atrophic scars, Palmoplantar keratoderma, Hypoalbuminemia, S... |
ORPHA:79396 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Periorbi... |
OMIM:142680 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis |
OMIM:278740 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:201475 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Pruritus, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhos... |
ORPHA:79278 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,... |
OMIM:227810 |
D-Glyceric Aciduria |
|
Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypog... |
OMIM:619055 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Spina bifida occulta, Thickened cortex of long bones, Sternocleidomastoid amyotrophy |
ORPHA:488434 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... |
OMIM:619127 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... |
ORPHA:911 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Hyp... |
OMIM:129900 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Aplasia/Hypoplasia of the skin, Abnormal hair morphology |
ORPHA:1979 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis, Cutaneous m... |
OMIM:278720 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... |
ORPHA:124 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... |
OMIM:304050 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation |
ORPHA:2822 |
Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, G... |
OMIM:620040 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Cog8-Cdg |
|
Hypoglycemia |
ORPHA:95428 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Squamous cell carcinoma of the skin, Myelodysplasia, Portal hypertension |
OMIM:620365 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Celiac disease, Hodgkin lymphoma, Hepatosplenomegaly, Interstitial pneumonitis, Abnormal ... |
OMIM:615952 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu... |
ORPHA:26793 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hy... |
ORPHA:199299 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria |
OMIM:231680 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Helsmoortel-Van Der Aa Syndrome |
|
High anterior hairline, Thin skin |
OMIM:615873 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer, Breast carcinoma |
OMIM:608615 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased circulating cortisol level, Primary h... |
OMIM:615830 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Preauricular ski... |
ORPHA:1647 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Synophrys, Thin skin |
ORPHA:536545 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619479 |
Neuhauser Syndrome |
|
Delayed CNS myelination, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Pneumonia, Gastrointestinal stroma tumor, Splenomegaly, Lymphoma, ... |
ORPHA:1572 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu... |
ORPHA:79332 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia |
OMIM:616638 |
Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation |
ORPHA:177907 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Polycythemia Vera |
|
Myelofibrosis, Fatigue, Abdominal pain, Splenomegaly, Weight loss, Acute leukemia, Arthralgia |
ORPHA:729 |
Pudendal Neuralgia |
|
Pruritus, Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Eczema, Celiac disease, Lymphoma, Thyroiditis, Hypocalcemia, Recur... |
OMIM:212750 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c... |
ORPHA:98908 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recur... |
ORPHA:275 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... |
ORPHA:90156 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, S... |
OMIM:614700 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia |
OMIM:616817 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Elevated circulating creatine kin... |
OMIM:616878 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein conc... |
OMIM:614204 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Hypoglycemia |
ORPHA:90790 |
Netherton Syndrome |
|
Parakeratosis, Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhi... |
OMIM:256500 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation o... |
OMIM:232240 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemi... |
OMIM:617156 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphoproliferative disorder, Minimal change glomerulonephritis, Hyperlipidemia, Abnormal intesti... |
ORPHA:1830 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative diso... |
ORPHA:276 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Pruritus, Myocarditis, X... |
ORPHA:81 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Limited elbow movement, Sagittal craniosyno... |
ORPHA:221120 |
Carney Complex |
|
Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Thyroid carcinoma, Papillary thyr... |
ORPHA:1359 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Hepatospleno... |
OMIM:609628 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... |
ORPHA:158684 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Hype... |
ORPHA:171876 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Hypocalcemia |
OMIM:607143 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoglycemia, Hypoalbuminemia |
OMIM:618329 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232220 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost... |
ORPHA:90291 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... |
ORPHA:183675 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Myositis, Median cleft lip and palate, Abnormal dental enamel m... |
ORPHA:3310 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair |
OMIM:200110 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... |
ORPHA:36234 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia |
OMIM:611126 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arth... |
ORPHA:779 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce... |
ORPHA:361 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Hyperlipidemia, Cleft palate, Arthrogryposis multiplex congenita, Hepatic steatos... |
ORPHA:254346 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Malar rash, Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Villous atrophy, Ecz... |
ORPHA:391487 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Patent ductus arteriosus, Thin skin, Striae distensae |
ORPHA:60030 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Thyroid hypoplasia, Facial edema, Pituitary hypothyroidism, Macroglossia, Umbilical hernia, Prolo... |
ORPHA:90674 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Recurrent skin infections, Camptodacty... |
ORPHA:3455 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia |
ORPHA:397590 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Melanoma, Squamous cell carcinoma of the skin, Conjunctivitis |
OMIM:278700 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Angular cheilitis, Steatocystoma multiplex, Palmoplantar hyperkeratosis... |
OMIM:167210 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Dysphagia,... |
ORPHA:2908 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Dubowitz Syndrome |
|
Inguinal hernia, Eczema, Cryptorchidism, Velopharyngeal insufficiency, Lymphoma, Submucous cleft ... |
OMIM:223370 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:617053 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Silver-Russell Syndrome 1 |
|
Fasting hypoglycemia |
OMIM:180860 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Elevated cir... |
OMIM:615688 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematochezia, Gastrointestinal carc... |
OMIM:175050 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Malabsorption, Hyperkeratosis, Ba... |
ORPHA:79430 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Lymphocytic infi... |
OMIM:616100 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Adams-Oliver Syndrome 3 |
|
Aplasia cutis congenita |
OMIM:614814 |
Keutel Syndrome |
|
Alopecia, Dermal atrophy |
ORPHA:85202 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Hip pain, Osteoarthrit... |
ORPHA:740 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:2833 |
Pituitary Apoplexy |
|
Hyponatremia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:95613 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... |
ORPHA:95409 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis |
ORPHA:160148 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:300868 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Acne, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin,... |
ORPHA:99889 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Osteoarthritis, Cigarette-paper scars, Cystocele, Osteolysis, Aplasia/Hypoplasia... |
ORPHA:286 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Narrow palat... |
ORPHA:353281 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Sinusitis, Skin rash, Eczema... |
ORPHA:811 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft pal... |
OMIM:617337 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio... |
OMIM:210710 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Hypoglycemia |
ORPHA:2609 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Jaundice, Prurit... |
ORPHA:69665 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... |
ORPHA:90791 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Plantar hyperkeratosis, Skin rash, Abnormal dental enamel morphology, Myelodysplasia,... |
ORPHA:2909 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Decreased circulating carnitine con... |
ORPHA:3337 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:608779 |
Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Skin ulcer, Premature gra... |
ORPHA:902 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia |
ORPHA:95496 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia |
ORPHA:277 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... |
OMIM:210250 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Delayed myelination, Corneal sc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Delayed myelination, Corneal sc... |
ORPHA:353277 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig... |
ORPHA:3322 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Poikiloderma With Neutropenia |
|
Skin rash, Sparse eyebrow, Low posterior hairline, Dermal atrophy, Nail dystrophy, Sparse lateral... |
OMIM:604173 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
Adams-Oliver Syndrome |
|
Sparse hair, Aplasia cutis congenita, Alopecia, Aplasia/Hypoplasia of the skin |
ORPHA:974 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Prurit... |
ORPHA:293173 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Myelody... |
ORPHA:3260 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia |
ORPHA:469 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Malabsorption, Splenomegaly, Pyloric stenosis, Tr... |
ORPHA:379 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia, Increased circulating cortisol level |
ORPHA:786 |
Xeroderma Pigmentosum Variant |
|
Dermal atrophy |
ORPHA:90342 |
Dermatomyositis |
|
Pericarditis, Pruritus, Myocarditis, Gastrointestinal stroma tumor, Lymphoma, Periorbital edema, ... |
ORPHA:221 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating glutaric acid concentration, Neonatal hypoglycemia |
ORPHA:66634 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Intrauterine growth retardation, Abnormal myelination, Camptodactyly |
OMIM:617333 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
Leigh Syndrome |
|
Hyperalaninemia, Hypoglycemia |
ORPHA:506 |
Dyskeratosis Congenita |
|
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Hypermelanotic mac... |
ORPHA:1775 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In... |
ORPHA:85138 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Periodontitis, Gastroesophageal reflux, Chronic otitis media,... |
ORPHA:534 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reac... |
ORPHA:79099 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia |
ORPHA:91355 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hyperammonemia, Hyperhomocystinemia, Ele... |
ORPHA:79282 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:20 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism |
ORPHA:90065 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Elevated circulating C-reactive protein concentration, Colitis, Hypoalbuminemia,... |
OMIM:619381 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan... |
ORPHA:555905 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstructi... |
ORPHA:273 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Foot joint contracture, Esophageal ulceration, Ana... |
ORPHA:79408 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration |
ORPHA:810 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Dystrophic toenail |
OMIM:616028 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, B-cell lymph... |
OMIM:102700 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... |
ORPHA:500150 |
Sotos Syndrome |
|
Glucose intolerance, Neonatal hypoglycemia |
OMIM:117550 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypermethio... |
OMIM:276700 |
Warburg-Cinotti Syndrome |
|
Thin skin |
OMIM:618175 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia |
OMIM:616007 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia |
ORPHA:813 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
Hyper-Igd Syndrome |
|
Skin rash, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Arthritis, Chronic oral candidiasis, ... |
OMIM:260920 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Elevated hepati... |
OMIM:619991 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia |
OMIM:618005 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia |
ORPHA:445038 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Gastroesophageal reflux, Abnormal myelination |
ORPHA:442835 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Recurrent infantile hypogl... |
ORPHA:508 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Dermal atrophy, Skin ulcer |
ORPHA:454831 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Facial palsy, Periorbital edema, Cheilitis, Furrowed tongue... |
ORPHA:2483 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Pruritus, S... |
OMIM:613471 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ... |
OMIM:269150 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia |
OMIM:233600 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:607872 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:168558 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Aplasia/Hypoplasia of the skin, Nevus, Low posterior hairline |
ORPHA:2990 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... |
ORPHA:439232 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:33577 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:289548 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:293978 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypoglycemia |
ORPHA:17 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Hypoglycemia |
ORPHA:2162 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia |
OMIM:616271 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia cutis congenita, Recurrent skin infections, Nail dystrophy |
ORPHA:79403 |
Lyme Disease |
|
Skin nodule, Dermal atrophy |
ORPHA:91546 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... |
ORPHA:565612 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Hypoglycemia |
OMIM:256810 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Desmosterolosis |
|
Patent ductus arteriosus, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:35107 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Bilateral cryptorchidism |
OMIM:619471 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Hydrocele testi... |
ORPHA:567546 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:300867 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hyperalaninemia, Hypoglycemia |
OMIM:252010 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation |
ORPHA:2388 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Neonatal death, Lateral ventricle dilatation |
OMIM:619534 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Inguinal he... |
ORPHA:83617 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Slow-growing hair, Sparse eyebrow, Fine hair, Coarse hair, Nail d... |
ORPHA:1896 |
Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Patent ductus arteriosus, Multiple cafe-au-lait spots... |
ORPHA:1556 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia |
OMIM:301066 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, ... |
ORPHA:90340 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Abnormal peripheral myelination, Atopic dermatitis, Joint contracture of the hand... |
ORPHA:466768 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
Fabry Disease |
|
Malabsorption, Hyperlipidemia, Hyperkeratosis, Arthritis, Achalasia, Abnormal circulating lipid c... |
ORPHA:324 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Hypoglycemia |
ORPHA:226307 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Fasting hypoglycemia |
ORPHA:96182 |
Monosomy 18Q |
|
Astrocytoma, Bilateral cryptorchidism, High palate, Abnormal myelination, Secondary growth hormon... |
ORPHA:1600 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Patent ductus arteriosus, Preauri... |
OMIM:600268 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Perlman Syndrome |
|
Hypoglycemia |
OMIM:267000 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Abnormal tongue morphology, Recurrent... |
ORPHA:158668 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level |
OMIM:620305 |
Histiocytoid Cardiomyopathy |
|
Hypoglycemia |
ORPHA:137675 |
Degcags Syndrome |
|
Hepatomegaly, Abnormal myelination, Jejunal atresia, Pneumonia, Hiatus hernia, Protruding tongue,... |
OMIM:619488 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... |
ORPHA:95455 |
Menkes Disease |
|
Hypoglycemia |
ORPHA:565 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h... |
ORPHA:2108 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin... |
ORPHA:2968 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261537 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:220111 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoglycemia |
ORPHA:373 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261552 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Skin erosion, Renal tubular epithelial necrosis, Pyoderma, N... |
ORPHA:79404 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Flexion contracture, Keratoconjunctivi... |
ORPHA:90324 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyperlipidemia, Hepati... |
ORPHA:91 |
Acute Liver Failure |
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Hypoglycemia, Hyperammonemia |
ORPHA:90062 |
Barber-Say Syndrome |
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Absent nipple, Sparse eyelashes, Sparse eyebrow, Low anterior hairline, Hypoplastic nipples, Derm... |
OMIM:209885 |
Deeah Syndrome |
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Neonatal hypoglycemia |
OMIM:619004 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Colpocephaly |
OMIM:620083 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Elevated serum 11... |
OMIM:201750 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Neonatal hypoglycemia |
OMIM:261740 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly... |
ORPHA:90794 |
Microphthalmia With Linear Skin Defects Syndrome |
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Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal eyelash morphology, Hypopigmented skin pa... |
ORPHA:2556 |
Costello Syndrome |
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Hypoglycemia |
OMIM:218040 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:618820 |
Toriello-Lacassie-Droste Syndrome |
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Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Restrictive Dermopathy |
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Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteri... |
ORPHA:1662 |
Holoprosencephaly 13, X-Linked |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Neonatal hypoglycemia |
ORPHA:457359 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu... |
ORPHA:67045 |
Orofaciodigital Syndrome Type 14 |
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Hamartoma of tongue, Bilateral cryptorchidism, Aplasia of the epiglottis, Cleft palate, Lobulated... |
ORPHA:434179 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Colpocephaly |
ORPHA:477993 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal hypoglycemia |
OMIM:617248 |
Branchiooculofacial Syndrome |
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Preauricular pit, Supernumerary nipple, Lower lip pit, Dermoid cyst, Low posterior hairline, Prem... |
OMIM:113620 |
Kindler Syndrome |
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Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
Non-Acquired Panhypopituitarism |
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Hypoglycemia |
ORPHA:90695 |
Holoprosencephaly 1 |
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Hypoglycemia |
OMIM:236100 |
6Q Terminal Deletion Syndrome |
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Colpocephaly |
ORPHA:75857 |
Woodhouse-Sakati Syndrome |
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Hyperlipidemia, Decreased testicular size |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hyperlipidemia, Streak ovary, Decreased response to growth hormone sti... |
ORPHA:3464 |
Beckwith-Wiedemann Syndrome |
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Neonatal hypoglycemia |
OMIM:130650 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypoglycemia |
ORPHA:95494 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Sotos Syndrome |
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Hypercalcemia, Neonatal hypoglycemia |
ORPHA:821 |
Genitopatellar Syndrome |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |