Cataract 31, Multiple Types |
|
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:605387 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair |
ORPHA:55654 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair |
OMIM:203655 |
Hypotrichosis 4 |
|
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:146550 |
Alopecia Areata 1 |
|
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis |
OMIM:104000 |
Alopecia Universalis |
|
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes |
ORPHA:701 |
Hypotrichosis 11 |
|
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail |
OMIM:614928 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... |
ORPHA:2722 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Cough, Chronic bronch... |
OMIM:613490 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, EEG abnormality, Hearing imp... |
ORPHA:1008 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Parc Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes |
OMIM:600331 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Trichodysplasia-Xeroderma Syndrome |
|
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... |
ORPHA:3361 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Nail dystrophy, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine ha... |
ORPHA:189 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... |
OMIM:602032 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Aniridia 1 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Optic... |
OMIM:106210 |
Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Clubbing, Prod... |
ORPHA:60033 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Pili Torti |
|
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Hearing impairment,... |
ORPHA:2889 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, P... |
ORPHA:70589 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Clubbing, Chronic pulmonary obstruction, D... |
ORPHA:79127 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... |
ORPHA:1067 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Hammertoe, Mildly elevated cr... |
OMIM:618400 |
Hypophosphatasia |
|
Craniosynostosis, Abnormal metaphysis morphology, Respiratory insufficiency, Failure to thrive in... |
ORPHA:436 |
Crandall Syndrome |
|
Sparse body hair, Fine hair, Brittle hair, Alopecia, Sensorineural hearing impairment, Aplasia/Hy... |
ORPHA:202 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Sensorineural hearing impair... |
OMIM:612674 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract, Alopecia, Sensorineural hearing impairment, Microtia |
OMIM:275630 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertriglyceri... |
OMIM:614480 |
Monilethrix |
|
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, A... |
ORPHA:573 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Ectopia lentis, Alopecia, Hearing impairment, Abnormal fingernail morphology, ... |
ORPHA:2325 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract, Abnormal hair morphology, Hearing impairment |
ORPHA:414 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Hepatomegaly, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Monilethrix |
|
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair |
OMIM:158000 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Clubbing, Restrictive ventilatory defect, Hypoxemia, He... |
OMIM:612387 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Clouston Syndrome |
|
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Alopecia, S... |
OMIM:129500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Alopecia, Ridged nail, Nail dystrophy |
OMIM:601705 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Hepatic failure, Emphysema, Cirrhosis |
OMIM:210050 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... |
ORPHA:1164 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Cutis Laxa-Marfanoid Syndrome |
|
Hip dislocation, Arachnodactyly, Emphysema, Limitation of joint mobility, Congenital diaphragmati... |
ORPHA:171719 |
Neutral Lipid Storage Disease With Myopathy |
|
Difficulty walking, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... |
OMIM:610717 |
Björnstad Syndrome |
|
Brittle hair, Alopecia, Sensorineural hearing impairment |
ORPHA:123 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Anterior... |
ORPHA:67036 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Decreased DLCO, Hypophosphatemic rickets, Pulmonary fibrosis, Emphysema, Aminoa... |
OMIM:618913 |
Hypotrichosis 5 |
|
Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m... |
OMIM:612841 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating alka... |
OMIM:616829 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Woolly Hair |
|
Cataract, Sparse body hair, Fine hair, Abnormal pupil morphology, Brittle hair, Abnormality of ha... |
ORPHA:170 |
Retinitis Pigmentosa 13 |
|
Optic disc drusen, Subcapsular cataract |
OMIM:600059 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Posteriorly rotated ears, Microcornea, Posterior subcapsular cataract |
OMIM:615458 |
Flynn-Aird Syndrome |
|
Cataract, Progressive sensorineural hearing impairment, Alopecia of scalp, Alopecia |
OMIM:136300 |
Pulmonary Blastoma |
|
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Bullous Dystrophy, Hereditary Macular Type |
|
Abnormality of the nail, Alopecia totalis |
OMIM:302000 |
Cholesteryl Ester Storage Disease |
|
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... |
OMIM:278000 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:612572 |
Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Central heterochromia, Alopecia, Long eyebrows, Sparse hair |
OMIM:275400 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia universalis, Abnormal pinna morphology, Brittle hair, Alopecia, Absent... |
ORPHA:2890 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Sensorineural hearing impairment |
ORPHA:2574 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Ataxia, Restrictive ventilatory defect, Cough, Hepatomegaly, Joint dislocation, Arthriti... |
ORPHA:36412 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, E... |
OMIM:619048 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperthreoninemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase conce... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Hepatic steatosis, Hepatic failur... |
OMIM:617872 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Developmental cataract, Nail dysplasia, Alopecia totalis, Nail dystrophy |
OMIM:212360 |
Erythrokeratodermia Variabilis |
|
Cataract, Protruding ear, Abnormality of the nail, Alopecia, Hearing impairment, Corneal opacity,... |
ORPHA:317 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Inguinal hernia, Slender build, Cholestasis, Respiratory failure, Decreased liver functi... |
OMIM:613658 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Onycholysis, Brittle hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Abnormal sweat g... |
OMIM:614929 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, ... |
OMIM:232700 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... |
OMIM:619386 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation, Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... |
OMIM:603471 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Hyperammonemia, Clubbing, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:615486 |
Bjornstad Syndrome |
|
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... |
OMIM:262000 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss |
ORPHA:79238 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction |
OMIM:130700 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract |
OMIM:618195 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Protruding ear, Alopecia, Fingernail dysplasia, Sparse hair, Ridged... |
ORPHA:2251 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia, Wheezing, Weight loss |
ORPHA:930 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... |
OMIM:616648 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... |
OMIM:222765 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, Abnormal hair m... |
ORPHA:248 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, EEG abnormality, Alopecia, Hearing impairment, Macrotia, Aplasia/Hypoplasia of ... |
ORPHA:2850 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Clubbing, Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respira... |
OMIM:610921 |
Abcd Syndrome |
|
Albinism, Aganglionic megacolon, Hearing impairment, Total intestinal aganglionosis, White eyelas... |
OMIM:600501 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Abnormal diaphysis morphology, Respiratory insufficiency, Short... |
ORPHA:1842 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Hepatic steatosis, Failur... |
ORPHA:26792 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:615233 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Distal arthrogryposis, Ataxia, Hepatomegaly, Cachexia, Elevated hepatic transamin... |
ORPHA:42 |
Wilson Disease |
|
Acute hepatic failure, Acute hepatitis, Jaundice, Joint swelling, Pathologic fracture, Difficulty... |
ORPHA:905 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Elevated hepatic transaminase |
OMIM:268020 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Nail dysplasia, Alopecia, Conjunctivitis, Sparse eyebrow, Scarring alopecia of scalp, N... |
OMIM:612843 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Central sleep apnea, Ataxia, Failure to thrive, Obstructive sleep apnea, Respi... |
ORPHA:70472 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Patchy alopecia, Absent facial hair, Alopecia, Small nail, Coarse hair, Hypoplastic toenails, Spa... |
OMIM:613573 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract |
OMIM:300619 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:600132 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Hepatomegaly, Splenomegaly, Hypertr... |
OMIM:612526 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Absent glenoid fossa, ... |
OMIM:224690 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:602772 |
Non Rare In Europe: Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Poste... |
ORPHA:280914 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract |
OMIM:613581 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Restrictive ventilatory defect, Cough, Elevated hepatic transaminase, Arachno... |
OMIM:619013 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract |
OMIM:616469 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia,... |
ORPHA:280356 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Aplasia/Hypoplasia of fingers, Respiratory distress, Upper airway ... |
ORPHA:141152 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Elevated ... |
ORPHA:79303 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Lipodystrophy, Inguinal hernia, Congenital hip dislocation, G... |
ORPHA:2962 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
Hodgkin Lymphoma |
|
Dyspnea, Ataxia, Cough, Hepatomegaly, Hyperhidrosis, Splenomegaly, Weight loss |
ORPHA:98293 |
Pseudopelade Of Brocq |
|
Abnormality of the nail, Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, S... |
ORPHA:129 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, P... |
OMIM:608709 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:180105 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract |
OMIM:601813 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Birt-Hogg-Dubé Syndrome |
|
Multiple lipomas, Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:615434 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair |
ORPHA:1882 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... |
ORPHA:50251 |
Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... |
ORPHA:247598 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Osteoporosis, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transami... |
ORPHA:369 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes |
OMIM:615704 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the liver, Restrictive ventilatory defect, Failu... |
ORPHA:1572 |
Ddost-Cdg |
|
Lipodystrophy, Elevated hepatic transaminase, Osteopenia, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Long finge... |
OMIM:615438 |
Ruijs-Aalfs Syndrome |
|
Cataract, Premature graying of hair, Sparse hair, Posterior subcapsular cataract |
OMIM:616200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Failure to thrive, Recurrent pneumonia, Bronchiectasis, Emphysema, Recurrent ... |
OMIM:242700 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alan... |
OMIM:614582 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Brittle hair, Alopecia, Sparse eyebrow, Leukonychia, Sparse hair |
OMIM:104100 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:613810 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Lipodystrophy, Inguinal hernia, Congenital hip dislocation, Generalized joint laxity, Abnormal su... |
ORPHA:357074 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Inguinal hernia, Pancreatitis, Osteoporosis, Hypermethioninemia, Failur... |
OMIM:236200 |
Cortisone Reductase Deficiency 1 |
|
Hirsutism, Alopecia |
OMIM:604931 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... |
OMIM:301045 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Alopecia totalis, Nail dystrophy |
ORPHA:1366 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly, Hepatic steatosis, Patent ductus arteriosus, Obesity |
OMIM:615996 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Weakness ... |
ORPHA:52430 |
Congenital Ichthyosiform Erythroderma |
|
Corneal erosion, Abnormality of the nail, Alopecia, Hearing impairment, Keratitis |
ORPHA:79394 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Retinitis Pigmentosa 37 |
|
Nuclear cataract, Posterior subcapsular cataract |
OMIM:611131 |
Obsolete: Hemochromatosis Type 4 |
|
Joint swelling, Congenital hepatic fibrosis, Joint dislocation, Cirrhosis, Hepatic steatosis, Lim... |
ORPHA:139491 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Dyspnea, Clubbing, Restrictive ventilatory defect, Cough, Hypoxe... |
OMIM:181000 |
Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... |
ORPHA:95430 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lipodystrophy, Elevated circulating creatine kinase con... |
OMIM:615980 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... |
OMIM:251880 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Fine hair, Alopecia, Corneal dystrophy, Sparse hair |
ORPHA:1839 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lipodystrophy, Elevated circulating alanine aminotransferase concentration, Osteoporosis, Hepatom... |
OMIM:615381 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... |
ORPHA:139507 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Ab... |
ORPHA:3032 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Posterior subcapsular cataract |
OMIM:613983 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract |
OMIM:258870 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Genu recurvatum, Slender long bone, Failure to thrive, Emphysema |
OMIM:613804 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract |
OMIM:617304 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive |
OMIM:618234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Long fingers, Respiratory failu... |
OMIM:608836 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cholestasis, Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegaly, Pro... |
OMIM:256810 |
Keratoderma Hereditarium Mutilans |
|
Abnormal toenail morphology, Abnormality of the nail, Alopecia, Hearing impairment, Sensorineural... |
ORPHA:494 |
Dpm1-Cdg |
|
Hepatosplenomegaly, Camptodactyly, Ataxia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic trans... |
ORPHA:79322 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransfer... |
OMIM:617093 |
Carnitine Deficiency, Systemic Primary |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:212140 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Optic atrophy, Posterior subcapsular cataract |
OMIM:300578 |
Rotor Syndrome |
|
Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal circ... |
ORPHA:3111 |
Netherton Syndrome |
|
Recurrent respiratory infections, Asthma, Emphysema, Aminoaciduria |
ORPHA:634 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Incr... |
OMIM:606069 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hyper... |
ORPHA:264580 |
Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Increased C-peptide level, Hepatomegaly, Cirrhosis, Failure t... |
ORPHA:528 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract, Posterior subcapsular cataract |
OMIM:617547 |
Hypomelanosis Of Ito |
|
Cataract, Alopecia, Iris coloboma |
OMIM:300337 |
Pseudoprogeria Syndrome |
|
Alopecia, Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Congenital abnormal hair pattern, Alopecia, Corneal opacity, Nail dystrophy, Atrichia |
ORPHA:1867 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract |
OMIM:618173 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... |
OMIM:264700 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Palmoplantar keratoderma, Hepatomegaly, Clubbing of toes, Weight loss |
ORPHA:2198 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Long eyelashes, Astigmatism, Low posterior hairline, Optic disc pallor, Abnormal auditory evoked ... |
OMIM:617523 |
Osteosarcoma |
|
Osteolysis, Abnormal tibial metaphysis morphology, Joint swelling, Pathologic fracture, Abnormal ... |
ORPHA:668 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hep... |
ORPHA:370 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Tracheomalacia, Inguinal hernia, Atelectasis, Umbilical hernia, Pulmonary hypoplasia, Peripheral ... |
OMIM:613177 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... |
OMIM:600081 |
Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... |
ORPHA:400 |
Cronkhite-Canada Syndrome |
|
Cataract, Sparse body hair, Patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Alopecia... |
ORPHA:2930 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Lipoatrophy |
OMIM:613877 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Small for gestational age, Patellar aplasia, Hip dysplasia, Umb... |
OMIM:616835 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Respiratory distress, Gait ataxia, Aminoaciduria, Weight loss |
OMIM:612075 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Nocardiosis |
|
Peritonitis, Pleuritis, Dyspnea, Liver abscess, Pleural effusion, Productive cough, Nonproductive... |
ORPHA:31204 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Small earlobe, Subcapsular cataract, Alopecia, Sensorineural hearing impairment |
ORPHA:98907 |
Carcinoma Of Esophagus |
|
Cough, Weight loss, Obesity |
ORPHA:70482 |
Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Rickets, Hypophosphatemia, Elevated circulating aspartate aminotransfer... |
ORPHA:2088 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Protrusio acetabuli, Joint laxity, Emphysema, Joint hyperflexibility, Pneumothor... |
OMIM:614816 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminas... |
ORPHA:567983 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:86893 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
EEG abnormality, Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:617519 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Pancreatitis, Hepatomegaly, Hepatic steatosis, Lipoatrophy |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 3 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Cirrhosis, Hypertrigly... |
OMIM:604367 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Ataxia, Respiratory insufficiency, Cough, Hepatomegaly, Hyperhidrosis, Splenomegaly, ... |
ORPHA:391 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy |
ORPHA:79087 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cholestasis, Elevated circulating alanine aminotransferase concentration, Hypermethioninemia, Ele... |
OMIM:614300 |
Alstrom Syndrome |
|
Subcapsular cataract, Progressive sensorineural hearing impairment, Alopecia |
OMIM:203800 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Restrictive ventilatory defect, Hepatomegaly, Abnormal circulating creatine k... |
ORPHA:369840 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Alopecia, Nail dystrophy |
ORPHA:79397 |
Citrullinemia Type Ii |
|
Hepatocellular carcinoma, Hypoproteinemia, Decreased body mass index, Pancreatitis, Acute hyperam... |
ORPHA:247585 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Ulnar deviation of the 3rd finger, Congenital hip dislocation, Abnormal liver parenchyma morpholo... |
ORPHA:456312 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract |
OMIM:133780 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hepatome... |
OMIM:618641 |
Renpenning Syndrome |
|
Cataract, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Macrotia, Sensorineural hearing... |
ORPHA:3242 |
Lymphoid Interstitial Pneumonia |
|
Dyspnea, Clubbing, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory de... |
ORPHA:79128 |
Mu-Heavy Chain Disease |
|
Osteolysis, Osteoporosis, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:100024 |
Osteootohepatoenteric Syndrome |
|
Reduced bone mineral density, Hip dysplasia, Cholestasis, Avascular necrosis of the capital femor... |
OMIM:619377 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Sarcoidosis |
|
Hepatomegaly, Upper airway obstruction, Decreased liver function, Pneumothorax, Dyspnea, Joint sw... |
ORPHA:797 |
Polymyositis |
|
Chondrocalcinosis, Gait disturbance, Respiratory insufficiency, Cough, Hepatomegaly, Elevated cir... |
ORPHA:732 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Neurofibromatosis, Type Ii |
|
Unilateral vestibular schwannoma, Bilateral vestibular schwannoma, Tinnitus, Cortical cataract, H... |
OMIM:101000 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Developmental cataract, Alopecia, Sensorineural hearing impairment |
OMIM:215100 |
Aniridia 2 |
|
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy |
OMIM:617141 |
Flynn-Aird Syndrome |
|
Cataract, EEG abnormality, Progressive sensorineural hearing impairment, Alopecia |
ORPHA:2047 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Dyspnea, Reduced bone mineral density, Hypohidrosis, Ch... |
ORPHA:324 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615595 |
Myotonic Dystrophy 2 |
|
Frontal balding, Iridescent posterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:602668 |
Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Decreased circula... |
ORPHA:101330 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:618528 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Osteoporosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating cr... |
OMIM:613327 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Hypertriglyceridemia, Emphysema, Abnormal intrahepatic bile duct morphology, Abnorma... |
ORPHA:363618 |
Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Sparse body hair, Alopecia |
ORPHA:177 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Generalized osteoporosis, Small for gestational age, Short distal phalanx of finger, Lack of faci... |
ORPHA:2959 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Hip dysplasia, Hepatomegaly, Shoulder dislocation, Achilles tendon contracture... |
ORPHA:404454 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Short distal phalanx of finger, Hand polydactyly, Synostosis of ... |
ORPHA:289 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
Felty Syndrome |
|
Recurrent respiratory infections, Pleuritis, Abnormal joint morphology, Osteolysis, Hepatomegaly,... |
ORPHA:47612 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Lipoatrophy, Hypoxemia, Arachnodactyly,... |
ORPHA:284979 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... |
ORPHA:209902 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... |
ORPHA:435660 |
Pfapa Syndrome |
|
Hepatomegaly, Arthritis, Recurrent pharyngitis, Splenomegaly, Weight loss |
ORPHA:42642 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia |
ORPHA:50944 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:255120 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Bulging of the costochondral junction, Elevated circulating alkaline phosphatase concent... |
OMIM:241530 |
Cidec-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Hypertrig... |
ORPHA:435651 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Lipodystrophy, Reduced bone mineral density, Joint stif... |
ORPHA:1979 |
Adams-Oliver Syndrome 2 |
|
Low-set ears, Protruding ear, Low anterior hairline, Alopecia, Small nail, Developmental cataract... |
OMIM:614219 |
3-Methylglutaconic Aciduria, Type V |
|
Nonprogressive cerebellar ataxia, Ataxia, Elevated circulating aspartate aminotransferase concent... |
OMIM:610198 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:600649 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Osteomalacia, Sparse bone trabeculae, Increased susceptibility to fractures, Thin bony c... |
ORPHA:289157 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Pulmonary hypoplasia, Wide anterior fontanel, Hepatomegaly, Elevated circulating glutar... |
OMIM:231680 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Decreased plasma carnitine, Hyper... |
OMIM:201450 |
Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... |
ORPHA:65682 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Short humerus, Unsteady gait, Methylmalonic acidemia, Polydacty... |
ORPHA:17 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Elevated transferrin saturation, Abnormal metacarpophalangeal joint mor... |
ORPHA:465508 |
Abetalipoproteinemia |
|
Steppage gait, Hepatomegaly, Respiratory failure, Abnormal circulating apolipoprotein concentrati... |
ORPHA:14 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Jaundice, Cholestatic liver disease, Hip dysplasia, Elevated hepatic t... |
OMIM:208085 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... |
ORPHA:64743 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Diffuse hepatic steatosis, Gait disturbance, Ataxia, Respiratory insufficiency due to muscle weak... |
ORPHA:436271 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Umbilical hernia, Joint laxity, Emphysema, Con... |
OMIM:219100 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Alopecia |
OMIM:203550 |
Cataract 3, Multiple Types |
|
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Bresek Syndrome |
|
Low-set ears, Iris coloboma, Protruding ear, Alopecia, Aganglionic megacolon, Optic nerve hypopla... |
ORPHA:85284 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Lipodystrophy, Inguinal hernia, Congenital hip dislocation, G... |
ORPHA:2834 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Abnormal bronchus physiology, Pneumonia, Hypoplasia of the femoral head, Salm... |
OMIM:209950 |
Chylomicron Retention Disease |
|
Steatorrhea, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to t... |
ORPHA:71 |
Majeed Syndrome |
|
Increased bone mineral density, Cough, Hepatomegaly, Cachexia, Failure to thrive, Metaphyseal irr... |
ORPHA:77297 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Recurrent lower respiratory tract infections, Pleural thickening, Bronchiectasis... |
OMIM:619632 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Nail pits, Patchy alopecia, Ridged nail, Abnormality of the periungual region,... |
ORPHA:79153 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Toe clinodactyly, Finger syndactyly, Clinodactyly of the 5th finger, Hyperlipid... |
ORPHA:254346 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransferase level, Elevated circula... |
ORPHA:228305 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Hypermethioninemia, Cirrh... |
OMIM:617156 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Inguinal hernia, Slender build, Arthralgia/arthritis, Osteoporosis, ... |
ORPHA:558 |
X-Linked Agammaglobulinemia |
|
Arthritis, Failure to thrive, Hepatitis, Sinusitis, Recurrent pneumonia, Cellulitis, Hypocalcemia... |
ORPHA:47 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Atresia of the external auditory canal, Alopecia, ... |
ORPHA:2316 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Elevat... |
ORPHA:71212 |
Hemifacial Atrophy, Progressive |
|
Horner syndrome, Poliosis, Patchy alopecia, Microtia |
OMIM:141300 |
Idiopathic Copper-Associated Cirrhosis |
|
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... |
ORPHA:209919 |
Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Recurrent respiratory infections, Camptodactyly of finger, Inguinal hernia, A... |
ORPHA:354 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipodystrophy, Lipoatrophy, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, ... |
ORPHA:2348 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Elevated hepatic transaminase, Cachexia, Cirrhosis, Macrovesicular hepatic steat... |
ORPHA:298 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Corneal opacity, Opacification of the corneal stroma, Nail ... |
OMIM:614594 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Respiratory insufficiency, Cachexia, Limitation of joint mobility, Joint hyperf... |
ORPHA:157973 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Periportal fibr... |
OMIM:201475 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Nail dysplasia, Chronic monilial nail infection, Alopecia, Hearin... |
OMIM:158310 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Hyperammonemia, Elevated circulating acylcarnitine concentration, Elevated... |
ORPHA:99901 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Increased i... |
ORPHA:79085 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Hepatic ... |
ORPHA:79083 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint subluxation, Inguinal hernia, Hip dislocation, Pathologic fracture, Respiratory insufficien... |
ORPHA:90349 |
Wilson Disease |
|
Hypouricemia, Hepatomegaly, Osteoarthritis, Osteomalacia, Acute hepatic failure, Elevated circula... |
OMIM:277900 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Exertional dyspnea, Weight loss |
ORPHA:100083 |
Nicolaides-Baraitser Syndrome |
|
Long eyelashes, Curly eyelashes, Alopecia, Highly arched eyebrow, Sparse hair, Abnormal hair pattern |
ORPHA:3051 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis,... |
OMIM:300972 |
Diffuse Alveolar Hemorrhage |
|
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... |
ORPHA:90060 |
Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Alopecia, Hypoplas... |
ORPHA:3163 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Hip dislocation, Ataxia, Proximal placement of thumb, Steatorr... |
OMIM:616263 |
Oculopharyngodistal Myopathy |
|
Difficulty walking, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakn... |
ORPHA:98897 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Increased hepatocellular ... |
OMIM:220110 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Osteopenia, F... |
OMIM:212065 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hepatomegaly, H... |
OMIM:151660 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Inability to walk, Recurrent bronchopulmonary infections, Clubb... |
OMIM:617303 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... |
OMIM:600785 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Astigmatism, Progressive hearing impairment, Posterior subcapsular cataract |
OMIM:619234 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Increased hepatic echo... |
OMIM:261680 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Overlapping fingers, Pulmonary hypoplasia, Knee flexion contracture, Bronchiectasis, Inte... |
OMIM:619708 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Failure to thrive in infancy, Hepatomegaly, Prolonged neonatal jaundic... |
OMIM:619418 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Hepatomegaly, Increased C-peptide level, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Acroosteolysis of distal phalanges (... |
ORPHA:280365 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Synophrys, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearin... |
OMIM:619260 |
Adrenomyodystrophy |
|
Reduced bone mineral density, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Intermittent hyperventilation, Dyspnea, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Elevated he... |
ORPHA:348 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormality of the nail, Alopecia, Absent eyelashes, Abnormal sweat gland morphology, Absent eyeb... |
OMIM:607823 |
Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Abnormal liver sonography, Elevated circulating aspartate aminotransfe... |
ORPHA:90003 |
Follicular Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Weight loss |
ORPHA:545 |
Skin fragility-woolly hair syndrome |
|
Alopecia, Woolly hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes |
OMIM:607655 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Hyperhidrosis, Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Sensorineural hearing... |
OMIM:109120 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Osteoporosis, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, ... |
OMIM:619487 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Intermittent jaundice, Biliary tract obstruction, Neoplasm of the liver, Intrahepatic ch... |
ORPHA:100085 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Protruding ear, Synophrys, EEG abnormality, Dystrophic fingernails, Dystrophic toenail, Alopecia,... |
ORPHA:3253 |
Keutel Syndrome |
|
Short distal phalanx of finger, Chronic sinusitis, Short thumb, Calcification of the auricular ca... |
OMIM:245150 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Osteolysis, Gait disturbance, Metacarpal osteolysis, Abnormality of the ... |
ORPHA:2774 |
Lichen Planopilaris |
|
Alopecia, Pterygium, Onycholysis, Abnormal fingernail morphology |
ORPHA:525 |
D-Bifunctional Protein Deficiency |
|
Increased circulating very long-chain fatty acid concentration, Very long chain fatty acid accumu... |
OMIM:261515 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Absent eyelashes, Absent eyebrow, Sparse scalp hair |
ORPHA:69735 |
Incontinentia Pigmenti |
|
Cataract, Nail pits, Nail dysplasia, Ridged nail, Breast hypoplasia, Onychogryposis, Hypoplastic ... |
OMIM:308300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Fragile nails, Alopecia, Keratoconus, Sensorineural hearing impairment, Sparse hair, Conjunctivitis |
OMIM:242150 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Hearing impairment |
ORPHA:337 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Limited elbow extension, Camptodactyly, Incisional hernia, Genu recu... |
OMIM:154700 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentrati... |
ORPHA:54251 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Alopecia, Opacification of the corneal stroma, Abnormal fingernail morphology |
ORPHA:3453 |
Multiple Carboxylase Deficiency |
|
Optic atrophy, Alopecia, Hearing impairment |
ORPHA:148 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Respiratory failure, Pneumothorax, O... |
ORPHA:60025 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Fragile nails, Patchy alopecia, Nail dystrophy |
OMIM:226650 |
Caroli Disease |
|
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevated circulating... |
ORPHA:53035 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Onycholysis, Alopecia, Yellow nails, Sparse lateral eyebrow, Nail dystrophy |
OMIM:614564 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Increased circulating renin level, Cough, Failure to thrive in infancy, Hyperkalemia, G... |
ORPHA:171876 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Dorsocervical fat pad, Increased circulating cortisol level, Osteoporosis, Elevated hepatic trans... |
ORPHA:189439 |
Diaphanospondylodysostosis |
|
Tracheomalacia, Inguinal hernia, Respiratory insufficiency, Missing ribs, Pulmonary hypoplasia, A... |
OMIM:608022 |
Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Hyp... |
ORPHA:79086 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Jaundice, Elevated circulating alanine aminotransferase concentration, Hep... |
OMIM:613070 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Cholestasis, Respiratory insufficiency, Failure to thrive in infancy, ... |
ORPHA:746 |
Menkes Disease |
|
Sparse hair, Hypsarrhythmia, Brittle hair, Alopecia |
OMIM:309400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Dyspnea, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumonitis, Hypoxemia, Cr... |
ORPHA:2902 |
Farber Disease |
|
Atelectasis, Intrahepatic cholestasis with episodic jaundice, Short toe, Hepatosplenomegaly, Join... |
ORPHA:333 |
Gracile Syndrome |
|
Cholestasis, Decreased transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... |
ORPHA:53693 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Dyspnea, Osteolysis, Joint swelling, Ataxia, Abnormal metaphysis ... |
ORPHA:35687 |
Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Gait ataxia, Broad-based gait, Weight loss |
ORPHA:248111 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Hyperextensible hand joints, Sagittal craniosynostosis, Hyperextensibility at elbow, ... |
ORPHA:500150 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Hip dislocation, Genu recurvatum, Wormian bones, Peripheral pulmonary artery ste... |
ORPHA:90348 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Gout, Hepatomegaly, Hypertriglyceridemia, Acute pancreat... |
ORPHA:412 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Iris coloboma |
ORPHA:88630 |
Kaposi Sarcoma |
|
Abnormality of the liver, Abnormal lung morphology, Abnormality of the spleen, Weight loss |
ORPHA:33276 |
Leishmaniasis |
|
Hepatomegaly, Elevated hepatic transaminase, Rhinitis, Splenomegaly, Weight loss, Hypoalbuminemia |
ORPHA:507 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Inguinal hernia, Hypermobility of interphalangeal joints, Cystocele, Pne... |
OMIM:130050 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Nail dysplasia, Alopecia, Nail dystrophy |
OMIM:242300 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Cholestasis, Hepatic fibrosis, Elevated hepatic transaminase, Joint laxity, H... |
ORPHA:541423 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Bile duct proliferation, Hyperalaninemia, Elevated hepatic transaminas... |
OMIM:618329 |
Alveolar Echinococcosis |
|
Cholangitis, Jaundice, Biliary cirrhosis, Dyspnea, Liver abscess, Ataxia, Abnormal spleen morphol... |
ORPHA:284 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Hyperuricemia, Gout, Pancreatitis, Osteoporosis... |
ORPHA:79259 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Abnormality of the peritoneum, Hernia, Weight loss |
ORPHA:26790 |
Bronchial Neuroendocrine Tumor |
|
Dyspnea, Increased circulating cortisol level, Nonproductive cough, Hepatomegaly, Pneumonia, Bron... |
ORPHA:97287 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Jaundice, Pulmonary arterial hypertension, Fatal liver failure in infancy, St... |
ORPHA:275761 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperaldosteronism, Dorsocervical fat pad, Increased circulating cortisol level, Osteoporosis, Hy... |
ORPHA:189427 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Dyspnea, Elevated circulating aspartate aminotransferase concent... |
OMIM:614921 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Osteolysis, Pathologic fracture, Osteoporosis, Portal hypertension, Hypersple... |
ORPHA:98850 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Pu... |
ORPHA:538 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Alopecia, Cupped ear, Sparse eyelash... |
OMIM:616367 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Elevat... |
ORPHA:1302 |
Primary Lipodystrophy |
|
Lipodystrophy, Lipoatrophy, Pancreatitis, Cirrhosis, Hyperlipidemia, Hepatic steatosis, Splenomegaly |
ORPHA:90970 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Hypercalcemia, Neoplasm of the liver, Weight loss |
ORPHA:69077 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Hyperammonemia, Decreased plasma free carnitine, Reduced carnitine... |
ORPHA:228308 |
Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Sparse axillary hair, Dystrophic fingernails, Dystrophic toenail, Scar... |
ORPHA:251393 |
Camurati-Engelmann Disease |
|
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Hepatomegaly, Cachexia,... |
ORPHA:1328 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Pulmonary embolism, Failure to thrive, Hype... |
ORPHA:444490 |
Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Inc... |
ORPHA:723 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Brittle hair, Alopecia, Coarse hair, Nail dystrophy |
ORPHA:75389 |
Immunodeficiency 40 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616433 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... |
ORPHA:2137 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Clubbing, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Increased ci... |
ORPHA:747 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... |
ORPHA:254361 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Inability to walk, Hip dysplasia, Ataxia, Difficulty walking, Hepatomegaly, Elevated hepatic tran... |
OMIM:615356 |
Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
Classic Mycosis Fungoides |
|
Abnormality of the nail, Alopecia |
ORPHA:2584 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Nodular pattern on pulmonary HRCT, Dyspnea, Tachypnea,... |
ORPHA:79126 |
Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Lung abscess, Liver abscess, Cough, Elevated hepatic transaminase, Elevated circulating ... |
ORPHA:67 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Lipoatrophy, Hepatomegaly, Cachexia, Abnormal pelvic girdle bone morph... |
ORPHA:1133 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Ataxia, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Periportal fib... |
OMIM:124000 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Inability to walk, Gait disturbance, Cough, Tip-toe gait, Increased suscept... |
ORPHA:216866 |
Keutel Syndrome |
|
Optic atrophy, Alopecia, Hearing impairment |
ORPHA:85202 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:212138 |
Alport Syndrome |
|
Recurrent corneal erosions, Abnormal corneal endothelium morphology, Sensorineural hearing impair... |
ORPHA:63 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Peripapillary atrophy, Posterior subcapsular cataract |
OMIM:613843 |
Spondyloocular Syndrome |
|
Cataract, Low-set ears, Posteriorly rotated ears, Low posterior hairline, Sensorineural hearing i... |
OMIM:605822 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteoporosis, Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Hep... |
ORPHA:91 |
Huntington Disease |
|
Inability to walk, Decreased body mass index, Gait disturbance, Difficulty walking, Abnormal circ... |
ORPHA:399 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, Hepatic necrosis, Fulminant h... |
OMIM:231530 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal corneal endothelium morphology, Optic disc pallor, Posterior synechiae of the anterior c... |
ORPHA:364055 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Pneumothorax, Respiratory failure, Choreoathetosis |
ORPHA:445038 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Osteoporosis, Elevated hepatic transaminase, Elevated alkaline... |
ORPHA:398063 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Pulmonary edema, Elevated circulating alkaline phosphatase concentration, Abnormal ... |
ORPHA:330001 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:66661 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Low-set ears, Iris coloboma, Megalocornea, Optic nerve hypopla... |
ORPHA:536471 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Low-set ears, Protruding ear, Supernumerary nipple, Posteriorly rotated ears, Alopecia, Sensorine... |
ORPHA:3224 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Nail dysplasia, Corneal scarring, Alopecia, Nail dystrophy, Conjunctivitis |
OMIM:226600 |
Kury-Isidor Syndrome |
|
Hypertrichosis, Astigmatism, Low-set ears, Alopecia |
OMIM:619762 |
Gapo Syndrome |
|
Nail dysplasia, Protruding ear, Breast hypoplasia, Megalocornea, EEG abnormality, Hypoplastic nip... |
OMIM:230740 |
Monosomy 13Q34 |
|
Postaxial foot polydactyly, Osteochondrosis, Postaxial hand polydactyly, Hepatic steatosis, Epist... |
ORPHA:96168 |
Christianson Syndrome |
|
Cachexia, Gait ataxia, Adducted thumb, Joint hyperflexibility, Arthrogryposis multiplex congenita... |
ORPHA:85278 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... |
ORPHA:60032 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Alopecia |
ORPHA:50812 |
Budd-Chiari Syndrome |
|
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... |
ORPHA:131 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Knee osteoarthritis, Oligoarthritis, Joint swelling, Enthesitis, Abnormal hip... |
ORPHA:85408 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Joint stiffness, Decreased fibular diameter, Generalized lipodystrophy, Thin ribs, Hepatomegaly, ... |
OMIM:619127 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Very long chain fatty acid accumulation, Difficulty walking, Hepatomegaly, ... |
ORPHA:98908 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... |
ORPHA:52368 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia, Osteopenia, Tapered finger, Hip contra... |
OMIM:616801 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Joint stiffness, Arachnodactyly, Cachexia |
ORPHA:1144 |
Seckel Syndrome 10 |
|
Elevated circulating aspartate aminotransferase concentration, Metaphyseal widening, Elevated cir... |
OMIM:617253 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Absent axillary hair, Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubi... |
ORPHA:2269 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Abnormal metaphysis morphology, Abnormal sacroiliac join... |
ORPHA:324964 |
Atypical Werner Syndrome |
|
Hip dysplasia, Generalized lipodystrophy, Rocker bottom foot, Progressive clavicular acroosteolys... |
ORPHA:79474 |
Desmoplastic Small Round Cell Tumor |
|
Abnormality of the peritoneum, Neoplasm of the pancreas, Neoplasm of the lung, Hepatomegaly, Cach... |
ORPHA:83469 |
Asbestos Intoxication |
|
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... |
ORPHA:2302 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated circulating ... |
OMIM:614924 |
Liver Disease, Severe Congenital |
|
Peritonitis, Inguinal hernia, Status asthmaticus, Elevated circulating alpha-fetoprotein concentr... |
OMIM:619991 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Low-set ears, Alopecia, Opacification of the corneal stroma |
OMIM:601853 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... |
ORPHA:171 |
Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia of scalp, Alopecia, Conjunctival telangiectasia, Nail dystrophy |
OMIM:618373 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hyperammonemia, Acute hepatic steatosis, Apnea, Failure to thrive |
OMIM:210200 |
Solitary Fibrous Tumor |
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Neoplasia of the pleura, Abnormality of the peritoneum, Neoplasm of the liver, Neoplasm of the lu... |
ORPHA:2126 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
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Onychogryposis, Alopecia, Sensorineural hearing impairment, Nail dystrophy |
ORPHA:79395 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulat... |
ORPHA:263455 |
Oculocerebrocutaneous Syndrome |
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External ear malformation, Iris coloboma, Alopecia, Hearing impairment, Abnormal fingernail morph... |
ORPHA:1647 |
Rapp-Hodgkin Syndrome |
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Onychogryposis, Uncombable hair, Fine hair, Supernumerary nipple, Decreased number of sweat gland... |
OMIM:129400 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ... |
OMIM:608594 |
Full Nf2-Related Schwannomatosis |
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Bilateral vestibular schwannoma, Tinnitus, Cortical cataract, Facial palsy, Sensorineural hearing... |
ORPHA:637 |
Adams-Oliver Syndrome |
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Cataract, EEG abnormality, Aplastic/hypoplastic toenail, Alopecia, Hypoplastic fingernail, Absent... |
ORPHA:974 |
Bartsocas-Papas Syndrome |
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Sparse or absent eyelashes, Corneal opacity, Popliteal pterygium, Hypoplastic toenails, Aplasia/H... |
ORPHA:1234 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Jaundice, Hyperammonemia, Hyperuricemia, Ataxia, Elevated hepatic transaminase, Hepatomegaly, Apn... |
ORPHA:20 |
Deafness-Lymphedema-Leukemia Syndrome |
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Recurrent respiratory infections, Hepatomegaly, Respiratory failure, Splenomegaly, Weight loss |
ORPHA:3226 |
Multicentric Reticulohistiocytosis |
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Cachexia, Arthritis |
ORPHA:139436 |
3-Methylglutaconic Aciduria, Type Viib |
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Ataxia, Respiratory distress, Recurrent pneumonia, Hepatic steatosis, Flexion contracture, Choreo... |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Respiratory failure, Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Adult Syndrome |
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Toenail dysplasia, Nail pits, Breast hypoplasia, Hypoplastic nipples, Abnormality of the nail, Fi... |
ORPHA:978 |
Cutis Laxa, Autosomal Dominant 1 |
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Dyspnea, Inguinal hernia, Peripheral pulmonary artery stenosis, Bronchiectasis, Emphysema, Uterin... |
OMIM:123700 |
Monosomy 18P |
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Protruding ear, Abnormal antihelix morphology, Low posterior hairline, Alopecia, Macrotia |
ORPHA:1598 |
Oculocerebrocutaneous Syndrome |
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Alopecia |
OMIM:164180 |
Alopecia-Intellectual Disability Syndrome 4 |
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Alopecia |
OMIM:618840 |
Mucolipidosis Type Ii |
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Inguinal hernia, Hip dislocation, Prominent metopic ridge, Inability to walk, Abnormal long bone ... |
ORPHA:576 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ... |
OMIM:269700 |
Huntington Disease-Like 1 |
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