Not currently registered for phenotyping at IMPC

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

Gene Summary

surfactant associated protein C
pro-SpC,  SP-C,  Sftp2,  SPC,  Sftp-2,  Bricd6

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Sftpc 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.

The table below shows human diseases associated to Sftpc by orthology or direct annotation.

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

Disease Similarity of
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction OMIM:130700
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, T... ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... ORPHA:1164
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Pulmonary Blastoma
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Weight loss ORPHA:64741
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Alpha-1-Antitrypsin Deficiency
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Panacinar emphysema, Bronchiec... OMIM:613490
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Ectopia lentis, Nasal polyposis, Bronchiolitis, Bronchie... OMIM:604571
Idiopathic Achalasia
Bronchitis, Cough, Recurrent aspiration pneumonia, Wheezing, Weight loss ORPHA:930
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Infertility, Bronchi... OMIM:615872
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... OMIM:612387
Alpha-1-Antitrypsin Deficiency
Hepatitis, Emphysema ORPHA:60
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... OMIM:253240
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Emphysema ORPHA:122
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Otitis media, Atelectasis OMIM:300455
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu... OMIM:610921
Respiratory insufficiency, Failure to thrive in infancy, Emphysema ORPHA:436
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent oti... OMIM:616726
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss ORPHA:141152
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... ORPHA:60032
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d... ORPHA:50251
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Failure to thrive, Recurrent pneumonia, Bronchiectasis, Emphysema, Pyoderm... OMIM:242700
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Decreased DLCO, Pulmonary fibrosis OMIM:618913
Immunodeficiency 46
Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis, Failure to thrive OMIM:616740
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Skin rash, Restrictive ventilatory defect, Cough, Uveitis, Arthritis, Episcleritis, Airw... ORPHA:36412
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Conjunctivitis, Recurrent otitis media, Recurrent sinusitis OMIM:613493
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Sparse eyebrow, Emphysema, Sparse eyelashes, Eczema,... ORPHA:634
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Yao Syndrome
Pleuritis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis... OMIM:617321
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Atopic dermatitis, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumon... ORPHA:2902
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Recurrent lower respiratory tract infections, Pleural thickening, Bronchiectasis... OMIM:619632
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Chronic otitis media, Epicanthus, Skin rash, Cough, Arthritis, ... ORPHA:33110
Lymphoid Interstitial Pneumonia
Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory defect, Coug... ORPHA:79128
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Failure to thr... ORPHA:47
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Keratiti... OMIM:608710
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Skin rash, Cough, Respiratory distress, Conjunctival hyperemia, Inflammatory abnormality of the e... ORPHA:3392
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, D... ORPHA:31204
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent bronchitis, Conjunctivitis... OMIM:240500
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Pneumonia, Recurrent bronchitis, Con... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Conjunctivitis OMIM:612692
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Common Variable Immunodeficiency
Recurrent respiratory infections, Chronic otitis media, Restrictive ventilatory defect, Failure t... ORPHA:1572
Periodic Fever, Familial, Autosomal Dominant
Pleuritis, Maculopapular exanthema, Oligoarthritis, Skin rash, Erysipelas, Myositis, Conjunctival... OMIM:142680
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Dyspnea, Inflammation of the large intestine, Restrictive ventil... OMIM:181000
Dyspnea, Interstitial pneumonitis, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:723
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Atelectasis, Hypoxemia, Respiratory distre... ORPHA:70588
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respiratory distress... ORPHA:454836
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 4
Decreased DLCO, Restrictive ventilatory defect, Reduced forced expiratory volume in one second, F... OMIM:300770
Loeys-Dietz Syndrome 4
Downslanted palpebral fissures, Emphysema, Pneumothorax, Flat cornea, Eosinophilic infiltration o... OMIM:614816
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Downslanted palpebral fissures, Thick eyebrow, Blepharophimosis, Tel... ORPHA:896
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Atelectasis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea ORPHA:254361
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Reactive Arthritis
Inflammation of the large intestine, Enthesitis, Pustule, Respiratory insufficiency, Recurrent ap... ORPHA:29207
Bronchogenic Cyst
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneum... ORPHA:2357
Antisynthetase Syndrome
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Skin rash, Respir... ORPHA:81
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Pu... ORPHA:538
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, C... ORPHA:244
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Entropion, Downslanted palpebral fis... OMIM:616835
Dermatitis, Atopic
Cataract, Atopic dermatitis, Conjunctivitis, Recurrent skin infections, Keratoconus, Allergic rhi... OMIM:603165
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Atelectasis, Nasal polyposis, Chronic rhinitis, Absent o... OMIM:244400
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, ... ORPHA:747
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Neonatal respiratory distress, Wheezing, Atelectasis, Restricti... OMIM:610978
Relapsing Polychondritis
Myocarditis, Cataract, Keratitis, Dyspnea, Atelectasis, Chondritis, Cough, Recurrent aphthous sto... ORPHA:728
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Inflammation of the large intestine, Uveitis, Colitis, Chronic ... OMIM:614700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i... OMIM:620233
Polyarteritis Nodosa
Pleuritis, Abnormal lung morphology, Pericarditis, Weight loss ORPHA:767
Stevens-Johnson Syndrome
Recurrent respiratory infections, Dyspnea, Restrictive ventilatory defect, Cough, Abnormal pleura... ORPHA:36426
Lymphedema-Distichiasis Syndrome
Cataract, Tubulointerstitial nephritis, Corneal erosion, Ectropion, Distichiasis, Recurrent skin ... ORPHA:33001
Diffuse Alveolar Hemorrhage
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... ORPHA:90060
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Downslanted palpebral fissures, Emphysema, Failure to thrive ORPHA:357074
Nasolacrimal Duct Cyst
Intercostal retractions, Narrow palpebral fissure, Abnormal lacrimal sac morphology, Abnormal bre... ORPHA:141083
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Anaplastic Thyroid Carcinoma
Dyspnea, Cough, Neoplasm of the lung, Upper airway obstruction, Respiratory distress, Stridor, We... ORPHA:142
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Ectopia lentis, Megalocornea, Iridodone... ORPHA:284979
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Interlobular septal thickening, Intraalveolar phospholipid ac... OMIM:614370
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Recurrent otitis media, Recurrent pneumonia,... OMIM:601495
Poikiloderma With Neutropenia
Skin rash, Blepharitis, Sparse lateral eyebrow, Recurrent pneumonia, Sparse eyebrow, Recurrent ot... OMIM:604173
De Barsy Syndrome
Cataract, Recurrent sinopulmonary infections, Epicanthus, Downslanted palpebral fissures, Failure... ORPHA:2962
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Recurrent respiratory infections, Dyspnea, Aspiration, Cough, Stridor ORPHA:2004
Follicular Lymphoma
Pleural effusion, Weight loss ORPHA:545
Autosomal Recessive Cutis Laxa Type 1
Cataract, Pyelonephritis, Respiratory insufficiency, Downslanted palpebral fissures, Peripheral p... ORPHA:90349
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Abnormality of the pulmonary artery, Emphysema, Absent eyelashes ORPHA:363618
Reticular Dysgenesis
Recurrent respiratory infections, Chronic otitis media, Skin rash, Failure to thrive, Weight loss ORPHA:33355
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Restrictive ventilatory defect, Cough, Abnormal pleura morpholo... ORPHA:537
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... OMIM:307200
Oculopharyngodistal Myopathy
Progressive ptosis, Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakn... ORPHA:98897
Maculopapular exanthema, Keratoconjunctivitis sicca, Upper airway obstruction, Pneumothorax, Abno... ORPHA:797
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... OMIM:265120
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Bronchiolitis obliterans, Recurrent lower respiratory tract infections, Re... OMIM:300755
Cutis Laxa, Autosomal Recessive, Type Ic
Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Peripheral pulmonary artery stenosis, Recurren... OMIM:613177
Carcinoma Of Esophagus
Cough, Weight loss, Obesity ORPHA:70482
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis OMIM:619708
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... OMIM:615067
Neoplasm of the lung, Aniridia, Weight loss ORPHA:654
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Bronchiectasis, A... ORPHA:2032
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Kaposi Sarcoma
Skin rash, Abnormal lung morphology, Weight loss ORPHA:33276
Ectropion, Keratoconjunctivitis sicca, Eyelid retraction, Keratitis, Abnormal lung morphology ORPHA:182
Keutel Syndrome
Chronic sinusitis, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Airway obst... OMIM:245150
Felty Syndrome
Recurrent respiratory infections, Pleuritis, Chronic otitis media, Arthritis, Pulmonary fibrosis,... ORPHA:47612
Mixed Connective Tissue Disease
Myocarditis, Pleuritis, Dyspnea, Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis... ORPHA:809
Systemic Capillary Leak Syndrome
Myocarditis, Cough, Pancreatitis, Cardiorespiratory arrest, Pulmonary edema, Rhinorrhea, Pleural ... ORPHA:188
Meier-Gorlin Syndrome 1
Small for gestational age, Long eyelashes, Short palpebral fissure, Respiratory distress, Failure... OMIM:224690
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis, Weight loss ORPHA:42642
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Tachypnea, Slender build, Respiratory insufficiency, Cough, Failure to... OMIM:613658
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Failure to thrive ORPHA:289
Marfan Syndrome
Pulmonary artery dilatation, Slender build, Ectopia lentis, Arthralgia/arthritis, Downslanted pal... ORPHA:558
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Salmonella osteomyelitis, Increased inflammatory respons... OMIM:209950
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Narrow palpebral fissure, Downslanted palpebral fissures, Emphysema,... OMIM:614437
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Pleuritis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Arthritis, Fasciitis,... ORPHA:32960
Fabry Disease
Cataract, Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Corneal dystrophy, A... ORPHA:324
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis ORPHA:26137
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Fibrocystic lung disease, Recurrent pneumonia, Rhinorrhea, Pneumo... OMIM:158310
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Recurrent otitis ... OMIM:602562
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... ORPHA:217563
Bronchial Neuroendocrine Tumor
Dyspnea, Nonproductive cough, Pneumonia, Bronchospasm, Abnormal pulmonary interstitial morphology... ORPHA:97287
Lacrimal Duct Defect
Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele OMIM:149700
Pulmonary Alveolar Microlithiasis
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... ORPHA:60025
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Conjunctivitis, Recurrent upper respiratory tract infections OMIM:217090
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Weight loss ORPHA:54251
Agel Amyloidosis
Cataract, Corneal ulceration, Bilateral ptosis, Keratoconjunctivitis sicca, Respiratory tract inf... ORPHA:85448
Lymphedema-Distichiasis Syndrome
Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasis, Conjunctivitis, Chylotho... OMIM:153400
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Ectropion, Blepharitis, Corneal dystrophy, Sparse eyebrow, Sparse eyelashes, Conjuncti... OMIM:308800
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Recurrent respiratory infections, Keratoconjunctivitis sicca, Corneal dystrophy, Sclero... ORPHA:1806
Crouzon Syndrome
Respiratory insufficiency, Conjunctivitis, Iris coloboma, Ptosis ORPHA:207
Respiratory insufficiency, Cough, Arthritis, Pulmonary fibrosis, Abnormal pulmonary interstitial ... ORPHA:732
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Peritonitis, Myocarditis, Cachexia, Bronchiolitis, Endocarditis, Lymphadenitis, Sinusitis, Kerato... ORPHA:2552
Muckle-Wells Syndrome
Skin rash, Restrictive ventilatory defect, Recurrent aphthous stomatitis, Uveitis, Arthritis, Epi... ORPHA:575
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Skin rash OMIM:603552
Peritonitis, Myocarditis, Corneal ulceration, Acute colitis, Failure to thrive in infancy, Uveiti... ORPHA:810
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Diffuse alveolar h... OMIM:130050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Folliculitis OMIM:612843
Autosomal Dominant Cutis Laxa
Pyelonephritis, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis, Emphysema, C... ORPHA:90348
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Generalized Eruptive Keratoacanthoma
Ectropion, Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Chronic otitis media, Atelectasis, Skin rash, Cough, Osteomyeli... ORPHA:2314
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pulmonary edema, Pleural effusion, Weight loss ORPHA:330001
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cough, Failure to thrive in infancy, Osteomyelitis, Recurrent upper and lower ... ORPHA:171876
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Perioral eczema, Respiratory distress, Tachypnea, Eczema, Weight loss ORPHA:79242
Tenorio Syndrome
Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Thick eyebrow, Apnea, Recurrent pneumo... OMIM:616260
Bone Dysplasia, Lethal Holmgren Type
Respiratory insufficiency, Recurrent respiratory infections, Weight loss, Failure to thrive ORPHA:1842
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Conjunctival hyperemia, Maculopapular exanthema, Conjunctivitis OMIM:191900
Marfan Syndrome
Pulmonary artery dilatation, Cataract, Ectopia lentis, Astigmatism, Downslanted palpebral fissure... OMIM:154700
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Cachexia, Weight loss ORPHA:83469
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Chronic otitis media, Recurrent intrapulmonary hemorrhage, Dysp... ORPHA:906
Riddle Syndrome
Bronchitis, Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Arthr... ORPHA:420741
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Recurrent intrapulmonary hemorrhage, Increased inflammatory response, Endocarditis, ... ORPHA:183
Kawasaki Disease
Myocarditis, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Abnormal pulmonary inters... ORPHA:2331
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Cough, Acute colitis, Pleural empyema, Pleural effusion, Constrictive peri... ORPHA:67
Neoplasia of the pleura, Dyspnea, Glomerulonephritis, Cough, Neoplasm of the lung, Ulcerative col... ORPHA:99867
Farber Disease
Atelectasis, Respiratory insufficiency, Arthritis, Failure to thrive, Respiratory distress, Cherr... ORPHA:333
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Chronic otitis media, Respiratory failure, Weight loss ORPHA:3226
Zika Virus Disease
Maculopapular exanthema, Iris coloboma, Skin rash, Arthritis, Infectious encephalitis, Lens sublu... ORPHA:448237
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Conjunctivitis, Arthritis, Skin rash OMIM:120100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Pulmonary arterial hypertension, Epicanthus, Long eyelashes, Ai... ORPHA:505248
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Epicanthus, Downslanted palpebral fissures, Failure to thrive... ORPHA:2834
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Pulmonary arterial hypertension, Atelectasis, Respiratory insufficiency, Intercostal ... ORPHA:258
Whim Syndrome
Atelectasis, Severe periodontitis, Lymphadenitis, Respiratory tract infection, Parotitis, Sinusit... ORPHA:51636
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Hepatitis, Infectious encep... ORPHA:139402
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus OMIM:619548
Lassa Fever
Cough, Menometrorrhagia, Dyspnea, Conjunctivitis ORPHA:99824
Epicanthus, Congenital exfoliative erythroderma, Astigmatism, Ectropion, Keratoconjunctivitis sic... ORPHA:33364
Myocarditis, Peritonitis, Endocarditis, Pyelonephritis, Pustule, Respiratory distress, Infectious... ORPHA:533
Behçet Disease
Cataract, Pleuritis, Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancr... ORPHA:117
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Cheilitis, Corneal erosion, Pustule, Blepharitis, Failure to thrive,... ORPHA:37
Erdheim-Chester Disease
Dyspnea, Skin rash, Cough, Pulmonary fibrosis, Xanthelasma, Osteomyelitis, Abnormal pulmonary int... ORPHA:35687
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
Whipple Disease
Myocarditis, Pleuritis, Respiratory insufficiency, Cough, Uveitis, Cachexia, Arthritis, Infectiou... ORPHA:3452
Kid Syndrome
Acne inversa, Recurrent cutaneous abscess formation, Keratitis, Recurrent bacterial skin infectio... ORPHA:477
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Stomatitis, Productive cough, Metrorrhagia, Epistaxis, Exertional dy... ORPHA:520
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Rheumatoid arthr... ORPHA:227990
Pelizaeus-Merzbacher Disease
Respiratory insufficiency, Recurrent respiratory infections, Failure to thrive in infancy, Cachexia ORPHA:702
Cystic Echinococcosis
Pulmonary cyst, Membranous nephropathy, Abnormal subpleural morphology, Multiple pulmonary cysts,... ORPHA:400
Clouston Syndrome
Cataract, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis OMIM:129500
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Hashimoto thyroiditis, Keratoconjunctivitis sicca, Rheumatoid arthr... ORPHA:227982
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Autoimmune Hypoparathyroidism
Cataract, Dyspnea, Conjunctivitis, Chronic mucocutaneous candidiasis ORPHA:36913
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Abnormal eyelash morphology, Lipomas of eyelids, Conjunctival hyperemia, Sparse eyebrow... ORPHA:2399
Hodgkin Lymphoma
Cough, Dyspnea, Weight loss ORPHA:98293
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Keratitis, Inflammatory abnormality of the skin, Chemosis, Skin ra... ORPHA:95455
Intestinal Dysmotility Syndrome
Cataract, Weight loss, Failure to thrive OMIM:620045
Lichen Planus Pemphigoides
Blepharitis, Conjunctivitis ORPHA:254478
Malignant Atrophic Papulosis
Peritonitis, Cataract, Arteritis, Respiratory failure, Pleural effusion, Ptosis, Weight loss ORPHA:679
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Lacrimal duct atresia, Blepharitis, Absent eyelashes, Ankyloblepharon, Sparse eyelashes, Conjunct... OMIM:106260
Dyskeratosis Congenita, X-Linked
Cataract, Restrictive ventilatory defect, Blepharitis, Pulmonary fibrosis, Pterygium, Sparse eyel... OMIM:305000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Recurrent respiratory infections, Keratitis, Aspiration pneumonia, Dyspnea, Cough, Fail... ORPHA:1018
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Failure to thrive in infancy, Downslanted palpebral fissures, Sparse eyebrow, Unilate... ORPHA:500150
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Atelectasis, Cough, Recurrent bacterial skin infections, Lymphadenitis, Re... OMIM:306400
Cockayne Syndrome Type 2
Developmental cataract, Male hypogonadism, Uveitis, Conjunctivitis ORPHA:90322
Leukocyte Adhesion Deficiency
Peritonitis, Glomerulonephritis, Recurrent aphthous stomatitis, Severe periodontitis, Lymphocytic... ORPHA:2968
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis, Erythroderma, Failure to thrive OMIM:242150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Keratitis, Abnormal eyelash morphology, Abnormal nasolacrimal s... ORPHA:2273
Juvenile Dermatomyositis
Dyspnea, Skin rash, Restrictive ventilatory defect, Cough, Arthritis, Pulmonary fibrosis, Palpebr... ORPHA:93672
Q Fever
Myocarditis, Maculopapular exanthema, Endocarditis, Cough, Respiratory distress, Hepatitis, Infec... ORPHA:781
Giant Cell Arteritis
Cough, Abnormal pleura morphology, Arthritis, Recurrent pharyngitis, Epistaxis, Pericarditis, Pto... ORPHA:397
Lambert-Eaton Myasthenic Syndrome
Abnormality of the orbital region, Small cell lung carcinoma, Keratoconjunctivitis sicca, Impotence ORPHA:43393
Hermansky-Pudlak Syndrome
Cataract, Dyspnea, Long eyelashes, Iris hypopigmentation, Astigmatism, Pulmonary fibrosis, Menome... ORPHA:79430
Solitary Fibrous Tumor
Neoplasia of the pleura, Neoplasm of the lung, Weight loss ORPHA:2126
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Myositis, Arthritis, Failure to thrive, Sinusitis, Conjunctivitis, Panniculitis OMIM:617591
Crouzon Syndrome
Sleep apnea, Keratitis, Conjunctivitis, Shallow orbits OMIM:123500
Arboleda-Tham Syndrome
Neonatal respiratory distress, Recurrent respiratory infections, Epicanthus, Chronic otitis media... OMIM:616268
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Fai... OMIM:618278
Al Amyloidosis
Autonomic erectile dysfunction, Dyspnea, Nonproductive cough, Obstructive sleep apnea, Pulmonary ... ORPHA:85443
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Huntington Disease-Like 2
Weight loss ORPHA:98934
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Entropion, Ectropion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal ne... OMIM:278730
Riboflavin Transporter Deficiency
Iris hypopigmentation, Hypogonadism, Respiratory insufficiency, Cachexia, Sleep apnea, Ptosis ORPHA:97229
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Neoplasm of the lung, Bronchospasm, Ptosis, Weight loss ORPHA:100085
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Chronic Graft Versus Host Disease
Dyspnea, Urinary bladder inflammation, Bronchiolitis obliterans, Cough, Recurrent corneal erosion... ORPHA:99921
19Q13.11 Microdeletion Syndrome
Cataract, Recurrent respiratory infections, Cachexia, Failure to thrive, Sparse lateral eyebrow, ... ORPHA:217346
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Epistaxis, Endocarditis,... ORPHA:73263
Primary Sjögren Syndrome
Bronchitis, Corneal perforation, Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Ch... ORPHA:289390
Biotinidase Deficiency
Skin rash, Apnea, Seborrheic dermatitis, Recurrent skin infections, Tachypnea, Conjunctivitis OMIM:253260
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respira... ORPHA:365
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pleuritis, Recurrent intrapulmonary hemorrhage, Chronic otitis ... ORPHA:900
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Biotinidase Deficiency
Eczematoid dermatitis, Hyperventilation, Skin rash, Apnea, Respiratory distress, Conjunctivitis ORPHA:79241
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Increased DLCO, Reticular pattern on pulm... OMIM:233450
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Abnormal nasolacrimal system morphology, Wei... ORPHA:52417
Lacrimoauriculodentodigital Syndrome 2
Conjunctivitis, Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia OMIM:620192
Esophageal Atresia
Bronchitis, Small for gestational age, Recurrent respiratory infections, Aspiration, Chronic pulm... ORPHA:1199
Viss Syndrome
Pulmonary arterial hypertension, Dyspnea, Atopic dermatitis, Ectropion, Failure to thrive, Chroni... OMIM:619472
Poems Syndrome
Pulmonary arterial hypertension, Hypogonadism, Restrictive ventilatory defect, Respiratory insuff... ORPHA:2905
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Thymic Carcinoma
Cough, Palpebral edema, Dyspnea, Weight loss ORPHA:99868
Cockayne Syndrome Type 1
Cataract, Uveitis, Failure to thrive, Male hypogonadism, Conjunctivitis ORPHA:90321
Lujo Hemorrhagic Fever
Myocarditis, Maculopapular exanthema, Atelectasis, Skin rash, Fulminant hepatitis, Respiratory di... ORPHA:319213
Xeroderma Pigmentosum, Variant Type
Entropion, Ectropion, Conjunctivitis, Keratitis OMIM:278750
Autoinflammation With Arthritis And Dyskeratosis
Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Thyroiditis, Corneal ... OMIM:617388
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Myocarditis, Sacroiliac arthritis, Pulmonary granulomatosis, Small for gestational age, Endocardi... ORPHA:1304
Xeroderma Pigmentosum, Complementation Group E
Entropion, Ectropion, Conjunctivitis, Keratitis OMIM:278740
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Episcleritis, Failure to thrive, Parotitis, Recurrent otiti... OMIM:256040
Transketolase Deficiency
Cataract, Uveitis, Seborrheic dermatitis, Secondary amenorrhea, Conjunctivitis ORPHA:488618
Simple Cryoglobulinemia
Arthritis, Membranoproliferative glomerulonephritis, Abnormal lung morphology, Nephritis, Pericar... ORPHA:91139
Pseudomyxoma Peritonei
Respiratory insufficiency, Inflammation of the large intestine, Weight loss ORPHA:26790
Infant Botulism
Chronic otitis media, Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness, Kerat... ORPHA:178478
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Corneal opacity, Abnormal e... ORPHA:163934
Takayasu Arteritis
Pulmonary arterial hypertension, Arthritis, Inflammatory abnormality of the eye, Abnormal pattern... ORPHA:3287
Chand Syndrome
Ankyloblepharon, Atelectasis ORPHA:1401
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
8P23.1 Microdeletion Syndrome
Epicanthus, Obesity, Downslanted palpebral fissures, Upslanted palpebral fissure, Pulmonary arter... ORPHA:251071
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Conjunctival hyperemia, Spars... OMIM:167730
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Weight loss ORPHA:317
Alveolar Echinococcosis
Cholangitis, Dyspnea, Cough, Pulmonary cyst, Cutaneous abscess, Weight loss ORPHA:284
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Cachexia ORPHA:157973
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Keratitis OMIM:619016
Chronic Hiccup
Weight loss ORPHA:396
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Xeroderma Pigmentosum, Complementation Group C
Entropion, Ectropion, Conjunctivitis, Keratitis OMIM:278720
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Pulmonary arterial hypertension, Erythema nodosum, Orchitis, Diff... ORPHA:99827
Pseudohypoparathyroidism Type 1C
Cataract, Oligomenorrhea, Dyspnea, Hypergonadotropic hypogonadism, Conjunctivitis, Obesity ORPHA:79444
Hypohidrotic Ectodermal Dysplasia
Cough, Keratoconjunctivitis sicca, Failure to thrive, Sinusitis, Inflammatory abnormality of the ... ORPHA:238468
Reynolds Syndrome
Skin rash, Respiratory insufficiency, Keratoconjunctivitis sicca, Arthritis, Infectious encephalitis ORPHA:779
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Respiratory insuf... ORPHA:221
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Keratoconjunctivitis, Premature ovarian insufficiency, Chronic active hepatitis, Chroni... OMIM:240300
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Trichothiodystrophy 1, Photosensitive
Cataract, Small for gestational age, Hypogonadism, Keratoconjunctivitis sicca, Microcornea, Asthm... OMIM:601675
Gm1 Gangliosidosis
Recurrent respiratory infections, Aspiration pneumonia, Abnormal retinal vascular morphology, Fai... ORPHA:354
Classic Hodgkin Lymphoma
Respiratory insufficiency, Skin rash, Cough, Weight loss ORPHA:391
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Rhinorrhea, Rhinitis, Ptosis ORPHA:157835
Immunodeficiency 31C
Recurrent respiratory infections, Cough, Chronic mucocutaneous candidiasis, Chronic oral candidia... OMIM:614162
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Corneal erosion, Distichiasis, Conjunctivitis, Lacrimal punctal atresi... ORPHA:91416
Xeroderma Pigmentosum, Complementation Group A
Entropion, Ectropion, Conjunctivitis, Keratitis OMIM:278700
Isaacs Syndrome
Weight loss ORPHA:84142
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis OMIM:610455
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Lacrimal duct stenosis, Periorbital dermoid cyst, Conjunctivitis OMIM:615560
Mcdonough Syndrome
Synophrys, Cachexia, Ptosis, Short palpebral fissure ORPHA:2471
Pseudohypoparathyroidism Type 1A
Cataract, Oligomenorrhea, Dyspnea, Band keratopathy, Hypergonadotropic hypogonadism, Conjunctivit... ORPHA:79443
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Keratoconjunctivitis sicca, Decreased fertility, Sparse eyelashes, Microcornea OMIM:234050
Majeed Syndrome
Inflammatory abnormality of the skin, Pustule, Cough, Cachexia, Failure to thrive, Acne, Osteomye... ORPHA:77297
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... ORPHA:293381
Peritoneal Cystic Mesothelioma
Peritonitis, Dyspareunia, Metrorrhagia, Menorrhagia, Weight loss ORPHA:168816
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Hypergonadotropic hypogonadism, Abnormality of the extraocular muscles, Hypogonadotropi... ORPHA:298
Primary Intestinal Lymphangiectasia
Pleural effusion, Weight loss ORPHA:90362
Perry Syndrome
Respiratory insufficiency, Hypoventilation, Central hypoventilation, Weight loss, Respiratory arrest OMIM:168605
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Corneal scarring, Conjunctivitis OMIM:226600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Pseudohypoparathyroidism Type 1B
Cataract, Dyspnea, Conjunctivitis ORPHA:94089
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Colitis, Arthri... OMIM:301074
Cogan Syndrome
Keratitis, Scleritis, Uveitis, Episcleritis, Inflammatory abnormality of the eye, Conjunctivitis ORPHA:1467
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Ulcerative colitis, Crohn's d... OMIM:266600
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Pulmonary hypoplasia, Epicanthus, Atelectasis OMIM:269860
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Adrenocortical Carcinoma
Abnormality of reproductive system physiology, Lung adenocarcinoma, Weight loss, Increased body w... ORPHA:1501
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Recurrent bacterial skin infections, Recurrent corneal erosions, Keratoconjun... OMIM:148210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Eczematoid dermatitis, Inflammatory abnormality of the skin, Tu... ORPHA:37042
Diencephalic Syndrome
Decreased body weight, Cachexia ORPHA:1672
Mulibrey Nanism
Cachexia ORPHA:2576
Malignant Peritoneal Mesothelioma
Peritonitis, Dyspnea, Weight loss ORPHA:168811
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... ORPHA:2020
Rhabdoid Tumor
Respiratory insufficiency, Weight loss ORPHA:69077
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Conjunctival hamartoma, Weight loss ORPHA:312
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Tracheomalacia, Atelectasis, Restrictive ventilatory defect, Respiratory... ORPHA:536467
Renpenning Syndrome
Cataract, Epicanthus, Iris coloboma, Cachexia, Upslanted palpebral fissure, Thin eyebrow ORPHA:3242
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Rhinorrhea, Ptosis ORPHA:57145
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Respiratory insufficiency, Cachexia, Respiratory failure, Ptosis OMIM:618186
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Failure to thrive in infancy, Downslanted palpebral fissures, Cachexia, Ptosis OMIM:616801
De Sanctis-Cacchione Syndrome
Entropion, Ectropion, Conjunctivitis, Keratitis OMIM:278800
Central retinal artery occlusion, Skin rash, Conjunctival hyperemia, Anisocoria, Conjunctivitis ORPHA:863
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Amoebiasis Due To Free-Living Amoebae
Corneal perforation, Corneal ulceration, Respiratory tract infection, Conjunctival hyperemia, Sin... ORPHA:68
Mucolipidosis Type Ii
Recurrent respiratory infections, Epicanthus, Restrictive ventilatory defect, Shallow orbits, Obs... ORPHA:576
Juvenile Huntington Disease
Weight loss ORPHA:248111
Wilson Disease
Acute hepatitis, Arthritis, Failure to thrive, Hepatitis, Abnormality of the menstrual cycle, Inc... ORPHA:905
Sjogren Syndrome
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Gastrointestinal inflammation, Glomerulonephritis,... ORPHA:48435
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Aspiration, Central sleep apnea, Synophrys, Short palpebral fis... OMIM:619777
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Abnormal eyelid morphology, Weight loss ORPHA:2221
Tetrasomy 12P
Cachexia, Upslanted palpebral fissure, Sparse eyebrow, Telecanthus, Ptosis ORPHA:884
Erythermalgia, Primary
Keratoconjunctivitis sicca OMIM:133020
Adult Syndrome
Eczema, Conjunctivitis, Nasolacrimal duct obstruction OMIM:103285
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Huntington Disease
Abnormal libido, Decreased body mass index, Weight loss ORPHA:399
Progeroid Short Stature With Pigmented Nevi
Cataract, Small for gestational age, Premature ovarian insufficiency, Allergic conjunctivitis, Al... OMIM:176690
Sotos Syndrome
Cataract, Chronic otitis media, Small cell lung carcinoma, Astigmatism, Downslanted palpebral fis... ORPHA:821
Limb-Mammary Syndrome
Primary amenorrhea, Lacrimal duct atresia, Absent lacrimal punctum, Blepharitis, Sparse eyebrow, ... ORPHA:69085
Insulin-Resistance Syndrome Type B
Skin rash, Osteoarthritis, Abnormality of body weight, Pneumonia, Increased body weight, Nephriti... ORPHA:2298
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Viral hepatitis, Arthritis ORPHA:91138
Igg4-Related Kidney Disease
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Pericarditis, Tubulointerstit... ORPHA:449395
Adnp Syndrome
Aspiration, Slanting of the palpebral fissure, Iris coloboma, Bilateral ptosis, Astigmatism, Trun... ORPHA:404448
Loeffler Endocarditis
Cough, Dyspnea, Pericarditis, Weight loss ORPHA:75566
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Christianson Syndrome
Cachexia, Thick eyebrow ORPHA:85278
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin, Failure to thrive, Sparse eyebrow, Sparse eyela... OMIM:610768
22Q11.2 Deletion Syndrome
Cataract, Chronic otitis media, Telecanthus, Epicanthus, Chronic pulmonary obstruction, Atelectas... ORPHA:567
Focal Myositis
Myositis, Weight loss ORPHA:48918
Kikuchi-Fujimoto Disease
Myocarditis, Malar rash, Skin rash, Palpebral edema, Abnormal pulmonary interstitial morphology, ... ORPHA:50918
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Multiple Myeloma
Pleural effusion, Weight loss ORPHA:29073
Limbal Stem Cell Deficiency
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... ORPHA:171673
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Eosinophilic Fasciitis
Fasciitis, Myositis, Arthritis, Weight loss ORPHA:3165
Oromandibular Dystonia
Respiratory distress, Blepharospasm, Weight loss ORPHA:93958
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Skin rash, Colitis, Arthritis, Gastritis, Hepatitis, Recurrent otitis media, Pustular... OMIM:619381
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Eosinophilic Gastroenteritis
Asthma, Allergic rhinitis, Atopic dermatitis, Weight loss ORPHA:2070
Optic neuritis, Pleural effusion, Skin rash, Cough, Uveitis, Respiratory distress, Hepatitis, Con... ORPHA:509
Pili Torti-Onychodysplasia Syndrome
Conjunctival hyperemia, Absent eyebrow, Eczema, Absent eyelashes ORPHA:2890
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Cheilitis, Ectropion, Colitis, Esophagitis, Recurrent skin i... ORPHA:2908
Rhinitis, Weight loss ORPHA:507
Oculopharyngodistal Myopathy 1
Aspiration, Hypercapnia, Bilateral ptosis, Restrictive ventilatory defect, Respiratory insufficie... OMIM:164310
Acute Adrenal Insufficiency
Recurrent acute respiratory tract infection, Decreased female libido, Weight loss, Failure to thrive ORPHA:95409
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Upslanted palpebr... ORPHA:647
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Keratoconjunctivitis sicca, Thick eyebrow, Ptosis OMIM:616007
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Obstructive sleep apnea, Downslanted palpebral fissures, Cachexia, Severe failure to thrive ORPHA:371364
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Skin rash, Recurrent lower respiratory tract infections, Arthritis, Chilblains... OMIM:615846
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Keratoconjunctivitis sicca, Ectopia lentis OMIM:616914
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Skin rash, Blepharitis, Failure to thrive, Recurrent pneumon... OMIM:617718
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Non-Functioning Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:94080
Mast Cell Sarcoma
Weight loss ORPHA:66661
African Trypanosomiasis
Myocarditis, Keratitis, Optic neuritis, Iritis, Infertility, Abnormality of the menstrual cycle, ... ORPHA:3385
Pontine Tegmental Cap Dysplasia
Aspiration, Ptosis, Failure to thrive OMIM:614688
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Arthritis, Acne, Osteomyelitis, Psoriasiform derm... ORPHA:324964
Huntington Disease-Like 1
Weight loss ORPHA:157941
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Arthritis, Infertility, Erectile dysfunction, Hypogonadotropic hypogonadism, ... ORPHA:465508
Corneal ulceration, Keratoconjunctivitis sicca, Failure to thrive, Respiratory failure, Ptosis ORPHA:14
Porphyria, Congenital Erythropoietic
Absent eyebrow, Corneal scarring, Conjunctivitis, Loss of eyelashes OMIM:263700
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Synophrys, Recurrent respiratory infections, Hair-pulling ORPHA:447997
Igg4-Related Aortitis
Asthma, Increased inflammatory response, Weight loss ORPHA:449400
Ogden Syndrome
Aspiration, Pulmonary arterial hypertension, Epicanthus, Long eyelashes, Bilateral ptosis, Restri... OMIM:300855
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Tay-Sachs Disease
Cherry red spot of the macula, Aspiration OMIM:272800
Oculocerebrorenal Syndrome Of Lowe
Cataract, Recurrent respiratory infections, Chronic otitis media, Atelectasis, Respiratory insuff... ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Bacterial endocarditis, Cachexia, Pulmonary fibrosis, Azoospermi... ORPHA:2072
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Abnormal lacrimal duct morphology, Keratoconjunctivitis sicca, Abno... ORPHA:79078
Digeorge Syndrome
Chronic pulmonary obstruction, Atelectasis, Obesity, Short palpebral fissure, Acne, Seborrheic de... OMIM:188400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes OMIM:258360
Short Syndrome
Megalocornea, Abnormal pupil morphology, Hypoplasia of the iris, Corneal opacity, Posterior embry... ORPHA:3163
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Developmental And Epileptic Encephalopathy 38
Aspiration, Attenuation of retinal blood vessels OMIM:617020
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Cachexia ORPHA:93941
Thymic Neuroendocrine Tumor
Cough, Abnormal breath sound, Weight loss ORPHA:97289
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Cachexia ORPHA:1438
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Abnormality of the extraocular muscles, Respiratory insufficiency due to muscle weakness ORPHA:600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ptosis ORPHA:1933
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Mydriasis, Inflammation of the large intestine, Endocarditis, Skin rash, Lymphadenitis, Arthritis... ORPHA:707
Neoplasm of the lung, Weight loss ORPHA:97261
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Flynn-Aird Syndrome
Cataract, Cachexia ORPHA:2047
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Cataract, Chronic hepatitis, Band keratopathy, Hepatitis, Chronic mucocutan... OMIM:269200
Halperin-Birk Syndrome
Developmental cataract, Aspiration, Long eyelashes, Failure to thrive OMIM:618651
Cronkhite-Canada Syndrome
Cataract, Aplasia/Hypoplasia of the eyebrow, Cachexia ORPHA:2930
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Lacrimal gland aplasia, Corneal ulceration, Abnormal lacrimal gland morphol... ORPHA:2363
Fatal Familial Insomnia
Apnea, Weight loss OMIM:600072
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Cleft Larynx, Posterior
Aspiration OMIM:215800
Classical-Like Ehlers-Danlos Syndrome Type 2
Astigmatism, Keratoconjunctivitis sicca, Periodontitis, Bilateral ptosis ORPHA:536532
Primary Sclerosing Cholangitis
Pancreatitis, Uveitis, Ulcerative colitis, Hepatitis, Thyroiditis, Pleural effusion, Weight loss ORPHA:171
Celiac Disease, Susceptibility To, 1
Stomatitis, Recurrent aphthous stomatitis, Failure to thrive, Infertility, Thyroiditis, Eczema, W... OMIM:212750
Rett Syndrome
Intermittent hyperventilation, Cachexia, Apnea OMIM:312750
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Telecanthus, Cachexia ORPHA:2774
Acute Monoblastic/Monocytic Leukemia
Exertional dyspnea, Weight loss ORPHA:514
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Aspiration, Failure to thrive OMIM:618922
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Ectropion, Opacification of the corneal stroma, Eczema, Pustule ORPHA:2907
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Infantile Krabbe Disease
Cachexia, Failure to thrive, Respiratory distress, Cherry red spot of the macula, Respiratory fai... ORPHA:206436
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Hypogonadism, Synophrys, Downslanted palpebral fissures, Cachexia, Blepharophimosis, ... ORPHA:85293
Aredyld Syndrome
Aplasia/Hypoplasia of the eyebrow, Cachexia, Upslanted palpebral fissure ORPHA:1133
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Hepatoerythropoietic Porphyria
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Recurrent bacterial skin infec... ORPHA:95159
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Corneal perforation, Lacrimal gland hypoplasia, Recurrent corneal erosion... OMIM:149730
Weight loss ORPHA:668
Spinocerebellar Ataxia Type 8
Aspiration, Impotence ORPHA:98760
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Epicanthus OMIM:618733
Cockayne Syndrome
Cataract, Malar rash, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Cachexia, Band... ORPHA:191
Alternating Hemiplegia Of Childhood
Aspiration, Mydriasis, Apnea, Respiratory distress, Failure to thrive, Thin eyebrow ORPHA:2131
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Secondary Short Bowel Syndrome
Enterocolitis, Weight loss, Failure to thrive ORPHA:95427
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Aspiration, Corneal scarring, Apnea, Stridor OMIM:614653
Beta-Ketothiolase Deficiency
Cough, Tachypnea, Weight loss ORPHA:134
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Small for gestational age, Esophagitis, Failure to thrive, Obstructive sleep apnea ORPHA:96182
Neuroblastoma, Susceptibility To, 1
Horner syndrome, Weight loss, Failure to thrive OMIM:256700
Neuroendocrine Tumor Of The Colon
Bronchospasm, Weight loss ORPHA:100080
Amyotrophic Lateral Sclerosis 21
Aspiration, Respiratory insufficiency due to muscle weakness OMIM:606070
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Conjunctival hyperemia, Highly arched eyebrow OMIM:619121
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Polycythemia Vera
Respiratory insufficiency, Epistaxis, Pulmonary embolism, Weight loss ORPHA:729
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Enthesitis, Uveitis, Arthritis, Iridocyclitis, Synovitis, Hi... ORPHA:85408
Aicardi-Goutieres Syndrome 9
Failure to thrive, Chilblains, Acute pancreatitis, Pericarditis, Weight loss OMIM:619487
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Recurrent respiratory infections, Aspiration, Corneal scarring, Downslanted palpebral f... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Recurrent respiratory infections, Aspiration, Corneal scarring, Downslanted palpebral f... ORPHA:353277
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Tubulointerstitial nephritis, Male infertility, Oligospermia, Weight loss ORPHA:85450
Tsh-Secreting Pituitary Adenoma
Decreased fertility in females, Hypogonadism, Decreased female libido, Irregular menstruation, In... ORPHA:91347
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Weight loss ORPHA:69078
Congenital Erythropoietic Porphyria
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Recurrent bacterial skin infec... ORPHA:79277
Stickler Syndrome
Cataract, Recurrent respiratory infections, Chronic otitis media, Epicanthus, Slender build, Ecto... ORPHA:828
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Tachypnea, Apnea, Weight loss ORPHA:20
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Ménétrier Disease
Giant hypertrophic gastritis, Weight loss ORPHA:2494
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Weight loss ORPHA:100082
Cockayne Syndrome Type 3
Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Microcornea ORPHA:90324
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Synophrys, Keratoconjunctivitis sicca, Laterally extended eyebrow, Long eyelashes OMIM:618479
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Respiratory insufficiency, Cataract, Ptosis, Weight loss OMIM:607459
Osteootohepatoenteric Syndrome
Asthma, Weight loss, Failure to thrive OMIM:619377
Peripheral Primitive Neuroectodermal Tumor
Pancreatitis, Metrorrhagia, Weight loss ORPHA:370348
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Long eyelashes, Synophrys, Keratoconjunctivitis sicca, Corneal dystrophy, Broad eyebrow, Sparse e... ORPHA:495875
Oculogastrointestinal Muscular Dystrophy
Cachexia, Ptosis ORPHA:1876
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Corneal scarring, Cachexia, Failure to thrive, Attenuation of re... OMIM:610965
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Keratoconjunctivitis sicca, Osteoarthritis, Apnea, Decreased fertility, Keratoconus, ... ORPHA:285
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Hashimoto thyroiditis, Failure to thrive, Hepatitis, Weight loss ORPHA:199299
X-Linked Creatine Transporter Deficiency
Cachexia, Ptosis ORPHA:52503
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Schwartz-Jampel Syndrome
Cataract, Pulmonary arterial hypertension, Ectopia lentis, Abnormal eyebrow morphology, Respirato... ORPHA:800
Opitz Gbbb Syndrome
Aspiration, Telecanthus OMIM:300000
Phacoanaphylactic Uveitis
Retinal arteritis, Panuveitis, Abnormal pupil morphology, Posterior uveitis, Abnormal corneal end... ORPHA:209959
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Hashimoto thyroiditis, Membranous nephropathy, ... ORPHA:49041
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Weight loss, Failure to thrive ORPHA:35858
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Weight loss ORPHA:276621
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Blepharospasm ORPHA:240071
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Familial Glucocorticoid Deficiency
Azoospermia, Weight loss, Failure to thrive ORPHA:361
Idiopathic Panuveitis
Cataract, Red eye, Conjunctival hyperemia, Posterior synechiae of the anterior chamber ORPHA:280921
Proteus Syndrome
Cataract, Central heterochromia, Downslanted palpebral fissures, Pulmonary embolism, Neoplasm of ... ORPHA:744
Castleman Disease
Cough, Dyspnea, Weight loss ORPHA:160
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wolman Disease
Cachexia ORPHA:75233
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Retinal capillary hemangioma, Aniridia, Weight loss ORPHA:29072
Renal Nutcracker Syndrome
Dyspareunia, Infertility, Dysmenorrhea, Weight loss ORPHA:71273
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Ptosis, Weight loss OMIM:603041
Fanconi Anemia
Cataract, Epicanthus, Hypogonadism, Astigmatism, Upslanted palpebral fissure, Short palpebral fis... ORPHA:84
Silver-Russell Syndrome