Gene: Rgn MGI:108024

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

regucalcin

Synonyms:

SMP30

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rgn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rgn (0 diseases)
Human diseases predicted to be associated with Rgn (918 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rgn by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Acute hyperammonemia, Acute hepatic steatosis, Apnea, Failure to thrive	OMIM:210200
Solitary Fibrous Tumor	Neoplasia of the pleura, Abnormality of the peritoneum, Neoplasm of the liver, Neoplasm of the lu...	ORPHA:2126
Keratoderma Hereditarium Mutilans With Ichthyosis	Onychogryposis, Alopecia, Sensorineural hearing impairment, Nail dystrophy	ORPHA:79395
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulat...	ORPHA:263455
Oculocerebrocutaneous Syndrome	External ear malformation, Iris coloboma, Alopecia, Hearing impairment, Abnormal fingernail morph...	ORPHA:1647
Rapp-Hodgkin Syndrome	Onychogryposis, Uncombable hair, Fine hair, Supernumerary nipple, Decreased number of sweat gland...	OMIM:129400
Lipodystrophy, Congenital Generalized, Type 1	Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ...	OMIM:608594
Full Nf2-Related Schwannomatosis	Bilateral vestibular schwannoma, Tinnitus, Cortical cataract, Facial palsy, Sensorineural hearing...	ORPHA:637
Adams-Oliver Syndrome	Cataract, EEG abnormality, Aplastic/hypoplastic toenail, Alopecia, Hypoplastic fingernail, Absent...	ORPHA:974
Bartsocas-Papas Syndrome	Sparse or absent eyelashes, Corneal opacity, Popliteal pterygium, Hypoplastic toenails, Aplasia/H...	ORPHA:1234
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Hyperammonemia, Hyperuricemia, Ataxia, Elevated hepatic transaminase, Hepatomegaly, Apn...	ORPHA:20
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Respiratory failure, Splenomegaly, Weight loss	ORPHA:3226
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Respiratory distress, Recurrent pneumonia, Hepatic steatosis, Flexion contracture, Choreo...	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 11	Respiratory failure, Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Adult Syndrome	Toenail dysplasia, Nail pits, Breast hypoplasia, Hypoplastic nipples, Abnormality of the nail, Fi...	ORPHA:978
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Inguinal hernia, Peripheral pulmonary artery stenosis, Bronchiectasis, Emphysema, Uterin...	OMIM:123700
Monosomy 18P	Protruding ear, Abnormal antihelix morphology, Low posterior hairline, Alopecia, Macrotia	ORPHA:1598
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Mucolipidosis Type Ii	Inguinal hernia, Hip dislocation, Prominent metopic ridge, Inability to walk, Abnormal long bone ...	ORPHA:576
Lipodystrophy, Congenital Generalized, Type 2	Lipodystrophy, Umbilical hernia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Reduced ...	OMIM:269700
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