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Gene: Errfi1 MGI:1921405

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ERBB receptor feedback inhibitor 1
Synonyms:
Mig-6,  1300002F13Rik,  RALT

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 Errfi1 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.

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

The table below shows human diseases predicted to be associated to Errfi1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Ollier Disease
Skin ulcer, Micromelia, Abnormal cartilage morphology, Osteolysis, Neoplasm, Hemangioma, Subcutan... ORPHA:296
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement ORPHA:86820
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the skeletal system, Neoplasm of the ... ORPHA:424019
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... ORPHA:93308
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal diaphysis morphology, Gingival fibromatosis, Aplasia/Hypoplasia of the skin,... ORPHA:2028
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Squamous cell c... ORPHA:409
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Erythema, Skin ulcer, Fibrosarcoma, Subcutaneous nodule ORPHA:31112
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Necrobiosis Lipoidica
Abnormal forearm morphology, Erythema, Indurated nodule, Skin ulcer, Skin nodule, Atrophic scars,... ORPHA:542592
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Infantile Myofibromatosis
Neoplasm of the skin, Skin ulcer, Osteolysis, Benign neoplasm of the central nervous system, Inte... ORPHA:2591
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans, Mandibular prognathia, W... OMIM:165800
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... ORPHA:1345
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... ORPHA:2869
Classic Mycosis Fungoides
Neoplasm of the skin, Erythema, Hypopigmented skin patches, Lymphoma, Skin ulcer, Dry skin, Abnor... ORPHA:2584
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Ehlers-Danlos Syndrome, Hypermobility Type
Loss of ambulation, Joint dislocation, Osteoarthritis, Joint hypermobility OMIM:130020
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Difficulty walking, Joint stiffness, Chondritis, Limit... ORPHA:566943
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Neoplasm of the oral cavity, Pterygium, Dermal atrophy, A... ORPHA:525
Diffuse Palmoplantar Keratoderma, Bothnian Type
Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer ORPHA:2337
Aplasia Cutis Congenita
Erythema, Toe syndactyly, Skin ulcer, Finger syndactyly, Aplasia cutis congenita, Aplasia cutis c... ORPHA:1114
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Abnormality of the parathyro... ORPHA:2762
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Osteochondritis dissecans, Knee osteoarthritis, Waddling gait, Genu varum, Flat... OMIM:600204
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Verrucae, Skin ulcer, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squam... ORPHA:217390
Brooke-Spiegler Syndrome
Skin nodule, Skin ulcer, Skin appendage neoplasm, Abnormality of the submandibular glands, Skin-c... ORPHA:79493
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... OMIM:600969
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... ORPHA:166002
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Familial Keratoacanthoma
Skin ulcer, Neoplasm, Papilloma, Adenoma sebaceum, Subcutaneous nodule, Papule, Hyperkeratosis ORPHA:493
Chilblain Lupus
Finger swelling, Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis ORPHA:90280
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... OMIM:132400
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Difficulty walking, Joint stiffness, Chond... ORPHA:564003
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Pseudoachondroplasia
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Difficulty walking, Limited hip movement, Hip contracture, Abnormality of the... ORPHA:99642
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Difficulty walking, Joint stiffness, Enla... OMIM:208230
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility ORPHA:63442
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Conjunctival hamartoma, Palmoplantar keratoderma, Hyperkeratosis ORPHA:312
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Malar flattening, Osteoarthritis ORPHA:166100
Werner Syndrome
Small hand, Neoplasm of the oral cavity, Melanoma, Renal neoplasm, Sarcoma, Hyperkeratosis, Cutan... ORPHA:902
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Skin ulcer, Neoplasm of the skeletal system, Neoplasm of the ... ORPHA:424016
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Hemangioma, Hypermelanotic macule, Rectal prolapse, Cerebellar med... OMIM:112200
Neuropathy, Hereditary Sensory, Type Iic
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy OMIM:614213
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Multiple Epiphyseal Dysplasia Type 5
Difficulty walking, Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness,... ORPHA:93311
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Carious teeth, Osteomyelitis, Genu valgum, Abnormal ... ORPHA:53
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the skin, Erythema, Palmoplantar keratoderma, Skin ulcer, Melanoma, Palmoplantar hype... ORPHA:659
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Abnormality of the temporomandibular joint, Hepatosplenomegal... ORPHA:85408
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Malar flattening OMIM:184840
Chilblain Lupus 1
Autoamputation of digits, Skin ulcer OMIM:610448
Hemochromatosis, Type 4
Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia OMIM:606069
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Lymphoma, Dry skin, Neoplasm, Sarcoma, Papule, Hyperkeratosis... ORPHA:454
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion, Waddling gait OMIM:271650
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Pyoderma Gangrenosum
Inflammation of the large intestine, Skin ulcer, Atrophic scars, Myelodysplasia, Skin vesicle, My... ORPHA:48104
Dysspondyloenchondromatosis
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints ORPHA:85198
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum ORPHA:1822
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Coronary Artery Disease, Autosomal Dominant 2
Gout, Osteoporosis, Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Hypermelanoti... OMIM:175200
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... OMIM:607078
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... ORPHA:166011
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Dry skin, Aplasia/Hypoplasia of the thumb, Epicanthus, B... ORPHA:235
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Gastroesophageal reflux, Skin ulcer, Hypopigmented skin patches, P... ORPHA:220402
Hypochondroplasia
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility ORPHA:429
Acrogeria
Small hand, Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short foot, Thin... ORPHA:2500
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Abnormality of the spleen... ORPHA:31202
Chromomycosis
Annular cutaneous lesion, Hyperkeratotic papule, Atypical scarring of skin, Hypopigmented skin pa... ORPHA:182
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Clubbing, Neopla... OMIM:174900
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Genu valgum, Reduced bone mineral densi... ORPHA:742
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis, Pleural eff... ORPHA:90186
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Joint hypermobility ORPHA:90653
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Abnormal diaphysis morphology, Abnormality of the wrist, Aplasia/Hypoplasia of the sk... ORPHA:1657
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Mhc Class I Deficiency 1
Bronchiolitis, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Microphthalmia, Syndromic 12
Neonatal death, Bicornuate uterus, Cryptorchidism, Pulmonary hypoplasia OMIM:615524
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Sydenham Chorea
Septic arthritis, Unsteady gait, Endocarditis ORPHA:306731
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Small hand, Coronal craniosynostosis, ... OMIM:235510
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis, Joint hypermobility OMIM:620080
Polyarteritis Nodosa
Erythema, Skin ulcer, Abnormality of the gastrointestinal tract, Abnormal lung morphology, Subcut... ORPHA:767
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Skin ulcer, Atelectasis, Lymphoma, Skin vesicle, Craniosynostosis, Recurrent respirat... ORPHA:2314
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Keloids, Adrenocortical ade... OMIM:175100
Dracunculiasis
Subcutaneous nodule, Skin ulcer ORPHA:231
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin, Skin ulcer OMIM:620443
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Myelodysplasia, Recurrent infection of the gastrointestinal tract, Hemangi... ORPHA:486
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R... OMIM:608654
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hypopigmented skin patches, Skin ulcer, Neoplasm, Conjunctivitis, Abnormal l... ORPHA:47
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Anemia, Increased ... ORPHA:37748
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Ty... OMIM:263000
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumonia, P... OMIM:613177
Laron Syndrome
Micrognathia, Delayed eruption of teeth, Osteoarthritis, Abnormality of the elbow ORPHA:633
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Dyskeratosis Congenita
Blepharitis, Palmoplantar keratoderma, Oral leukoplakia, Lymphoma, Recurrent respiratory infectio... ORPHA:1775
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Reduced bone mineral density, Skin ulcer, Abnormality of the up... ORPHA:834
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer... OMIM:147060
Hereditary Acrokeratotic Poikiloderma
Erythema, Xerostomia, Oral leukoplakia, Hypopigmented skin patches, Skin ulcer, Finger syndactyly... ORPHA:2907
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Arthr... OMIM:602390
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Poroma, Apocrine hidrocystoma, Multiple eyelid margin cysts, Dry skin, ... OMIM:224750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation ORPHA:2631
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse... OMIM:602540
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Desbuquois Dysplasia 1
Microretrognathia, Joint dislocation, Advanced tarsal ossification, Malar flattening, Joint hyper... OMIM:251450
Hereditary Sensory And Autonomic Neuropathy Type 1
Gastroesophageal reflux, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:2141
Morgagni-Stewart-Morel Syndrome
Hypertension, Osteoporosis, Acne, Osteoarthritis ORPHA:77296
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Hemophilia A
Epistaxis, Muscle hemorrhage, Hematemesis, Osteoarthritis, Melena, Joint hemorrhage OMIM:306700
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Hypertension, Serositis ORPHA:567544
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... OMIM:177170
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Clinodactyly of the 5th toe, Skin ulcer ORPHA:229717
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis, Anorexia ORPHA:330012
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... OMIM:601457
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia OMIM:616531
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Flexion contracture of finger, Pulmonary hypoplasia OMIM:617194
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Erythematous plaque, Merkel cell ... ORPHA:79140
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... OMIM:611762
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis, Waddling gait OMIM:602111
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... OMIM:601492
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Genu valgum, Hypophosphatemic rickets, Enamel hypomine... OMIM:307800
Reticular Dysgenesis
Recurrent respiratory infections, Skin ulcer ORPHA:33355
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car... ORPHA:60032
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac ... ORPHA:85438
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Splenomegaly, Lymphadenopathy, Arthritis, Juvenile rheumatoid arthriti... ORPHA:85414
Birt-Hogg-Dubé Syndrome
Emphysema, Skin tags, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Renal cell car... ORPHA:122
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ... ORPHA:2848
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Epidermoid cyst, Medulloblastoma, ... ORPHA:247806
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis, Anorexia ORPHA:1302
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Perching Syndrome
Dysphagia, Cyanosis OMIM:617055
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o... OMIM:130000
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Micrognathia, Cryptorchidism, Generalized joint hypermobility, Cerv... OMIM:618000
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vasculitis in the ... OMIM:620321
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Adenocarcinoma of the colon, Orthokeratosis, Palmoplantar keratoderma, Pan... ORPHA:79501
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Squamous cell carcinoma, Follicular hyperkeratosis, Fing... OMIM:615225
Infantile Systemic Hyalinosis
Osteopenia, Skin ulcer, Micromelia, Camptodactyly of finger, Osteomalacia, Abnormality of the gas... ORPHA:2176
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Flynn-Aird Syndrome
Dermal atrophy, Bone cyst, Skin ulcer ORPHA:2047
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Loss of ambulation, Pulmonary fibrosis, Dysphagia ORPHA:254361
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Palmar pits, Squamous cell carcinoma, Verrucae OMIM:618267
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Broad-based gait, Decreased testicular size, Cryptorchidism, Aggressive ... OMIM:300978
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteolytic defects of the phalanges of the hand, Acral ulceration OMIM:613115
Larsen-Like Syndrome, Lethal Type
Neonatal death, Multiple joint dislocation, Joint dislocation, Pulmonary hypoplasia OMIM:245650
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule... ORPHA:69126
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Familial Multiple Nevi Flammei
Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Abnormality of the upper limb ORPHA:624
Acquired Purpura Fulminans
Macular purpura, Neoplasm, Macule, Pyoderma gangrenosum, Erythematous macule ORPHA:49566
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Joint swelling, Lipogranulomatosis, Osteoly... OMIM:228000
Laryngotracheoesophageal Cleft
Cyanosis, Choking episodes, Impaired oropharyngeal swallow response, Recurrent respiratory infect... ORPHA:2004
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Hematemesis, Osteoarthritis, Melena, Joint hemorrhage OMIM:306900
Chime Syndrome
Erythema, Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Skin... ORPHA:3474
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Skin ulcer ORPHA:2218
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Patellar hypoplasia, Cyanosis, Pneumothorax, Recurrent resp... ORPHA:2257
Buerger Disease
Skin ulcer ORPHA:36258
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Cholelithiasis, Pathologic fracture, Hepatosplenomegaly, Pancytop... ORPHA:77259
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pulmonary hypoplasia, Ataxia OMIM:618174
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Whim Syndrome 1
Recurrent upper respiratory tract infections, Verrucae, Abnormal morphology of female internal ge... OMIM:193670
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m... ORPHA:922
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Nevus, Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lip... OMIM:620189
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Cowden Syndrome 1
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast... OMIM:158350
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Petechiae, Ptosis, High palate OMIM:170100
Autosomal Dominant Spastic Paraplegia Type 36
Spastic gait, Arthritis ORPHA:320365
Stickler Syndrome, Type I
Joint stiffness, Micrognathia, Malar flattening, Joint hypermobility, Arthropathy, Osteoarthritis... OMIM:108300
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Neoplasm, Erythematous plaque, Chronic ... ORPHA:3243
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... ORPHA:93360
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Recurrent respiratory infections, Abnormal ple... ORPHA:537
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse OMIM:619793
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Arthritis, Lymphadenopathy ORPHA:42642
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Abnormal joint mo... ORPHA:47612
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Pulmonary hypoplasia OMIM:614096
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Leishmaniasis
Skin plaque, Papule, Pallor, Skin ulcer ORPHA:507
Beta-Thalassemia
Reduced bone mineral density, Pallor, Skin ulcer ORPHA:848
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Skin ulcer OMIM:620603
Anti-Glomerular Basement Membrane Disease
Anemia, Vasculitis, Persistence of primary teeth, Arthritis ORPHA:375
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal enchondral ossification, Difficulty walking, Premature ... ORPHA:93314
Otospondylomegaepiphyseal Dysplasia
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Micrognathia, Osteoarth... ORPHA:1427
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Autoamputation of digits, Distal upper limb muscle weakness, Skin ulcer OMIM:613640
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Squamous cell carcinoma of the skin, Myelodysplasia, Crypto... OMIM:620365
Acute Radiation Syndrome
Skin ulcer, Dermal atrophy, Interstitial pneumonitis, Scaling skin, Hyperkeratosis ORPHA:454831
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Abnormality of the tarsal bones, Abnormal femur morpholo... ORPHA:352540
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Increased inflam... ORPHA:3287
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Arthritis, Neutropenia, Anemia OMIM:604250
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Furrowed tongue, Dry skin, Abnormal eyebrow morphology, Abnormal eyelid mor... ORPHA:37
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar... ORPHA:85410
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Crescentic glomerulonephritis, Arthritis OMIM:616414
Classical Ehlers-Danlos Syndrome
Dermatochalasis, Osteopenia, Gastroesophageal reflux, Cigarette-paper scars, Dislocated radial he... ORPHA:287
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Diffi... OMIM:610978
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi... ORPHA:79127
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Petechiae, Keratoconjuncti... ORPHA:91138
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis ORPHA:2414
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, ... OMIM:607115
Choanal Atresia
Craniosynostosis, Choking episodes, Cyanosis, Recurrent respiratory infections ORPHA:137914
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Keratoconjunctivitis sicca, Hyperkeratosis, Skin ulcer ORPHA:1806
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psor... ORPHA:324964
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Diffuse Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Xerostomia, Skin ulcer, Pulmonary fibrosis, Dysphagia, Osteolysis ORPHA:220393
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Diffuse leiomyomatosis, Abnorm... ORPHA:314478
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Lymphadenopathy, Arthritis, B... ORPHA:397596
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Atelectasis, Penile hypospadias, ... OMIM:300219
Waardenburg Syndrome Type 3
Acrocyanosis, Synostosis of carpal bones, Atelectasis, Camptodactyly of finger ORPHA:896
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dysphagia ORPHA:2357
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Postaxial foot polydactyly, Downslanted palpebral fissures, Overlapping fingers, Tele... OMIM:301056
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Familial Mediterranean Fever
Vasculitis, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peritonitis, Arrhythmia,... ORPHA:342
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Sclerosis of hand bone, Intervertebral disk de... ORPHA:79474
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Lethargy, Choreoathetosis, Ataxia ORPHA:71277
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Xeroderma Pigmentosum Variant
Dermal atrophy, Dry skin, Melanoma, Squamous cell carcinoma, Basal cell carcinoma ORPHA:90342
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Pulmonary hypoplasia OMIM:616867
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arthropathy, Arrhythmia, Arthritis ORPHA:85446
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Skin ulcer, Abnormal gastric mucosa morphology, Keratoconjun... ORPHA:779
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Recurrent aphthous stomati... ORPHA:343
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Acute leukemia, Skin ulcer, Lymphoma, Neoplasm... ORPHA:906
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, Multiple cafe-au-lait spots, T-cell... OMIM:619097
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Highly arched eyebrow, Short toe, Anteriorly placed anus, Delayed... OMIM:239300
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Burkitt lymphoma, Facial erythema, Disseminated cutaneous warts OMIM:618307
Fusariosis
Pneumonia, Skin detachment, Skin ulcer, Pleural effusion, Hematological neoplasm, Lung abscess, S... ORPHA:228119
Schöpf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell ... ORPHA:50944
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Acrocyanosis ORPHA:1867
Dermatomyositis
Gottron's papules, Erythema, Papule, Shawl sign, Skin ulcer, Lymphoma, V-sign, Dry skin, Neoplasm... ORPHA:221
Beta-Thalassemia Intermedia
Osteopenia, Skin ulcer, Pallor, Osteoporosis, Reduced bone mineral density, Hepatocellular carcinoma ORPHA:231222
Chronic Granulomatous Disease
Skin ulcer, Tracheoesophageal fistula, Macule, Recurrent respiratory infections, Hypermelanotic m... ORPHA:379
Adult Syndrome
Toe syndactyly, Skin ulcer, Finger syndactyly, Dry skin, Melanocytic nevus, Nasolacrimal duct obs... ORPHA:978
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Preauricular skin tag, Short distal phalanx of finger, Gastroesophageal reflux, Short palpebral f... OMIM:617157
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... ORPHA:93307
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Skin ulcer, Lymphoma, Dry skin, Pleural effusion, Upslanted palpebral fissure, Abnor... ORPHA:2526
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Recurrent respiratory infections, Papule, Hyperkeratosis ORPHA:1334
Cutis Laxa-Marfanoid Syndrome
Emphysema, Hip dislocation ORPHA:171719
Coffin-Lowry Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Single transve... OMIM:303600
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Hip dislocation OMIM:614100
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Abnormal atrioventricular conduction,... ORPHA:732
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Osteopenia, Coarse metaphyseal trabecularization, Skin ulcer, Sho... ORPHA:955
Muckle-Wells Syndrome
Vasculitis, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, S... ORPHA:575
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Pallor, Upslanted palpebral fissure, Bowing of the long bones, Osteoporo... ORPHA:231226
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis, Hepatocellular carcinoma OMIM:613490
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Incontinentia Pigmenti
Erythema, Verrucae, Deviation of finger, Hypopigmented skin patches, Skin ulcer, Finger syndactyl... ORPHA:464
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Congenital Myasthenic Syndrome
Congenital hip dislocation, Tip-toe gait, Recurrent respiratory infections, Difficulty walking, C... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Tip-toe gait, Recurrent respiratory infections, Difficulty walking, C... ORPHA:98914
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Pgm3-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Skin ulcer, Lymphoma, Recurrent respiratory infecti... ORPHA:443811
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Premature osteoarthritis, Micrognathia, Malar flattening, Flexion contractur... OMIM:215150
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Pallister-Hall-Like Syndrome
Glioma, Hypothalamic hamartoma, Micropenis, Hip dislocation, Pulmonary hypoplasia OMIM:241800
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Abnormal pleura morphology, Cutis marmorata, Purpura, Gait disturbance, Dysphagi... ORPHA:183
Malakoplakia
Skin ulcer, Neoplasm of the colon, Neoplasm of the rectum, Subcutaneous nodule, Papule, Prostate ... ORPHA:556
Melorheostosis
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis ORPHA:2485
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Calciphylaxis
Ectopic ossification, Skin ulcer ORPHA:280062
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology,... OMIM:612387
Vertical Talus, Congenital
Arthritis OMIM:192950
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Xeroderma Pigmentosum, Complementation Group E
Ectropion, Squamous cell carcinoma of the skin, Dermal atrophy, Melanoma, Entropion, Basal cell c... OMIM:278740
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Gastroesophageal reflux, Autoamputation of digits, Acral ulceration, Osteoly... OMIM:201300
Meckel Syndrome 14
Cyanosis, Aplasia of the uterus, Ambiguous genitalia, Pneumothorax, Pulmonary hypoplasia OMIM:619879
Hereditary Mixed Polyposis Syndrome
Hematochezia, Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate can... ORPHA:157794
Cystic Fibrosis
Osteopenia, Gastroesophageal reflux, Bronchiectasis, Meconium ileus, Pneumothorax, Osteoporosis, ... ORPHA:586
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Malar fla... ORPHA:560
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Recurrent pneumonia, Bronchiectasis OMIM:150550
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Dry skin, Hypomelanotic macule, Conjunctival telangiectasia, Squamous c... OMIM:618373
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Xeroderma Pigmentosum, Complementation Group A
Erythematous papule, Verrucous epidermal nevus, Dermal atrophy, Squamous cell carcinoma of the sk... OMIM:278700
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Pulmonary hypoplasia OMIM:191830
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Sinusitis, Arthritis, Neutropenia, Conjuncti... ORPHA:33110
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol... OMIM:616100
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Lethal Congenital Contracture Syndrome Type 1
Webbed neck, Abnormality of the elbow, Pulmonary hypoplasia ORPHA:1486
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Ivory epiphyses of the... OMIM:190350
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Splenomegaly, Skin rash, Small vessel vasculitis, Lymphadenopath... ORPHA:36412
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Hypopigmented skin patches, Nevus, Cutaneous melanoma, Congenital giant mel... ORPHA:626
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Atypical scarring of skin, Gastroesophageal reflux, Elbow dislocation, Osteo... ORPHA:285
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Bicornuate uterus, Abnormal lung lobation OMIM:263210
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, B lymphocytopenia, Septic arthritis, Abnormal natural k... OMIM:612260
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Multiple Osteochondromas
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstr... ORPHA:321
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Alkaptonuria
Aortic valve stenosis, Joint dislocation, Joint stiffness, Black pigment gallstones, Increased su... ORPHA:56
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Hypersensitivity pneumonitis, Hyp... ORPHA:2902
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Meconium Aspiration Syndrome
Pneumothorax, Hypoxemia, Atelectasis, Aspiration pneumonia ORPHA:70588
Beta-Thalassemia Major
Skin ulcer, Genu valgum, Pallor, Upslanted palpebral fissure, Bowing of the long bones, Osteoporo... ORPHA:231214
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Splenomegaly, Arthritis, Ma... ORPHA:61
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Erysipelas, Polyarticular arthritis, Cervical lymphadenopathy, Skin ... OMIM:142680
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis, Hyperkeratosis, Abnormal morphology of fema... ORPHA:1839
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis ORPHA:3165
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Follicular hyperkeratosis OMIM:613736
Cystic Fibrosis
Recurrent pneumonia, Meconium ileus, Ileus, Rectal prolapse, Recurrent bronchopulmonary infection... OMIM:219700
Atelosteogenesis, Type Ii
Flat acetabular roof, Stillbirth, Pulmonary hypoplasia OMIM:256050
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Joint hypermobilit... ORPHA:93352
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Ectropion, Squamous cell carcinoma of the skin, Dermal atrophy, Actinic kerat... OMIM:278720
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Giant Cell Arteritis
Skin ulcer, Gastrointestinal infarctions, Abnormal pleura morphology, Ptosis, Recurrent pharyngit... ORPHA:397
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Atrioventricular block, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bon... ORPHA:371428
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psor... ORPHA:793
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Skin ulcer, Localized pulmonary hemorrhage, Conjunctivitis, Hemoside... OMIM:608710
Huriez Syndrome
Squamous cell carcinoma of the skin, Congenital palmoplantar hyperkeratosis, Tapered finger OMIM:181600
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Pterygium, Akinesia, Cryptorchidism, Pulmonary hypoplasia ORPHA:994
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Erythrod... OMIM:304790
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Colonic stenosis, Acute colitis, Intestinal perforation, Intussusception ORPHA:90038
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Dysmetria, Knee flexion contracture, Ataxia, Rectovaginal fistula, Dyspha... OMIM:619708
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Limitation of joint mobility, Subdural hemorrhage, Progre... ORPHA:169802
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Microscopic Polyangiitis
Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Episclerit... ORPHA:727
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Sagittal craniosynostosis, Shawl scrotum, Bicornuate uterus, Hydrocele ... OMIM:145420
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Pericallosal lipoma, Pulmonary hypoplasia ORPHA:3309
Overlap Myositis
Rheumatoid arthritis, Difficulty walking, Leukopenia, Subluxation of the small joints of the hand... ORPHA:206572
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Limitation of joint mobility, Limited hip movement, Micrognathia, Mitral r... ORPHA:740
Matthew-Wood Syndrome
Abnormal lung morphology, Cryptorchidism, Abnormality of the uterus, Pulmonary hypoplasia ORPHA:2470
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Capillary hemangioma, Abnormal cartilage morphology, Osteolysis, Nevus... ORPHA:2396
Serkal Syndrome
Abnormal penis morphology, Pulmonary hypoplasia, Hypospadias, Sex reversal ORPHA:139466
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Lyme Disease
Atrioventricular block, Joint swelling, Infectious encephalitis, Arrhythmia, Arthritis, Uveitis ORPHA:91546
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Joint stiffness, Splenomegaly, Skin ra... ORPHA:809
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Dysphagia, Pulmonary hypoplasia ORPHA:171430
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Esophageal stricture, Dermal atrophy, Pterygium, Sparse eyelashes, Oropharyngea... OMIM:305000
Rheumatic Fever
Epistaxis, Arrhythmia, Gait disturbance, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericar... ORPHA:3099
Wilson Disease
Hepatitis, Pathologic fracture, Acute hepatitis, Difficulty walking, Splenomegaly, Joint swelling... ORPHA:905
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Webbed neck, Cryptorchidism, Pulmonary artery atresia, Recurrent respiratory infections, Hypospad... OMIM:618316
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Thromboc... ORPHA:448237
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein arms, Abnorm... OMIM:610852
Osteogenesis Imperfecta
Carious teeth, Genu valgum, Micrognathia, Decreased skull ossification, Loss of ambulation, Ataxi... ORPHA:666
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Bilateral cryptorchidism, Decreased testicular size, Cyanosis, Hypog... ORPHA:2326
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Complement Factor I Deficiency
Vasculitis, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Sept... OMIM:610984
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Bronchitis, Cyanosis, Oral aversion, Recurrent res... ORPHA:1199
Juvenile Dermatomyositis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Dry skin, Palpebral edema, Pulmonary fibrosis,... ORPHA:93672
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Atrophic scars, Milia, Abnormal esophagus morphology, Squamous cell carcino... OMIM:226600
Dravet Syndrome
Obsessive-compulsive trait, Progressive gait ataxia, Limited knee extension, Cyanotic episode, Br... ORPHA:33069
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Myositis, Sinusitis, Lymphadenopathy, Thrombocytopenia, Art... OMIM:617591
Idiopathic Camptocormia
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response ORPHA:1320
Secondary Non-Traumatic Avascular Necrosis
Difficulty walking, Rheumatoid arthritis, Limitation of joint mobility ORPHA:399180
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Gaucher Disease
Pancytopenia, Ataxia, Osteopenia, Cholelithiasis, Joint dislocation, Osteomyelitis, Splenic ruptu... ORPHA:355
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... ORPHA:31205
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Increased suscep... ORPHA:77297
Williams Syndrome
Genu valgum, Radioulnar synostosis, Epicanthus, Blepharophimosis, Rectal prolapse, Increased bone... ORPHA:904
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Atelectas... ORPHA:51636
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Primary Ciliary Dyskinesia
Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov... ORPHA:244
Hsd10 Disease, Infantile Type
Cyanosis, Loss of ambulation, Dysphagia, Restlessness, Paroxysmal bursts of laughter, Choreoathet... ORPHA:391428
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma, Genu valgum OMIM:618913
Loeys-Dietz Syndrome 5
Retrognathia, Mitral regurgitation, Joint hypermobility, Eosinophilic infiltration of the esophag... OMIM:615582
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Cat Eye Syndrome
Preauricular skin tag, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulu... OMIM:115470
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Pleural effusion, Wormian bones, Micropenis, Hypospadias, Pulmonary hypoplasia OMIM:616897
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutroph... OMIM:614204
Parkes Weber Syndrome
Skin ulcer, Abnormal femoral metaphysis morphology, Capillary malformation, Erythematous plaque, ... ORPHA:90307
Prune Belly Syndrome
Congenital hip dislocation, Abnormality of the uterus, Decreased testicular size, Cryptorchidism,... ORPHA:2970
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Dental malocclusion, Retrognathia, Camptodactyly of finger, Osteochondritis... ORPHA:284984
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pterygium, Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand muscle weakness,... ORPHA:99956
Whipple Disease
Ataxia, Uveitis, Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Infectious encephalitis,... ORPHA:3452
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Gait ataxia, Recurrent hand flapping, Cyanosis, Aggressive behavior, Attention... OMIM:619580
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Hypophosphatasia
Emphysema, Craniosynostosis ORPHA:436
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Akinesia, Multiple pterygia, Vertebral fusion, Pulmonary hypoplasia OMIM:253290
Simple Cryoglobulinemia
Localized skin lesion, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Acra... ORPHA:91139
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly... ORPHA:2137
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Laryngeal ca... OMIM:610644
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Ataxia, ... OMIM:615688
Antisynthetase Syndrome
Aortic regurgitation, Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmona... ORPHA:81
Odontochondrodysplasia 1
Genu recurvatum, Recurrent respiratory infections, Flat acetabular roof, Genu varum, Delayed ossi... OMIM:184260
Leprosy
Penetrating foot ulcers, Hypopigmented macule, Urticarial plaque, Autoamputation of digits, Paral... ORPHA:548
Epidermodysplasia Verruciformis
Verrucae, Hypopigmented skin patches, Squamous cell carcinoma, Multiple cafe-au-lait spots, Skin ... ORPHA:302
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Palmoplantar keratoderma ORPHA:85112
Caudal Regression Syndrome
Pulmonary hypoplasia, Cryptorchidism, Ambiguous genitalia, Impulsivity, Abnormal vertebral segmen... ORPHA:3027
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Small thenar eminence, Rectal atresia, Hypoplasia of the radius, Anal ... OMIM:613390
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Skin ulcer, Corneal pterygium OMIM:245660
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Ectropion, Dermal atrophy, Squamous cell carcinoma, Entropion, Basal cell car... OMIM:278750
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att... ORPHA:464343
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Erythema, Papule, Squamous cell carcinoma, Basal cell carcinoma, Keratoacan... OMIM:278760
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Myositis, Perit... ORPHA:36234
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Gout OMIM:618061
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Atypical scarring of skin, Palmoplantar keratoderm... ORPHA:2908
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Erythema, Dermal atrophy, Patellar aplasia, Aplasia/hypoplasia involving bo... ORPHA:221016
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... ORPHA:2614
Pilomatrixoma
Neoplasm of head and neck, Subcutaneous nodule, Pilomatrixoma ORPHA:91414
Chronic Graft Versus Host Disease
Erythema, Gastroesophageal reflux, Xerostomia, Skin ulcer, Abnormal esophagus physiology, Pleural... ORPHA:99921
Primary Sjögren Syndrome
Usual interstitial pneumonia, Xerostomia, Bronchitis, Lymphoma, Parotitis, Skin ulcer, Dry skin, ... ORPHA:289390
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Subdural hemorrhage, Osteoarthritis OMIM:619714
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Pulmonary hypoplasia ORPHA:2655
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Transient ischemic attack, Osteochondritis dissecans, Intervertebral disk deg... OMIM:619656
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis, Hypochromic microcytic anemia OMIM:619423
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Joint dislocation, Multiple pterygia, Pulmonary hypoplasia OMIM:312150
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Livedoid Vasculopathy
Erythematous papule, Skin ulcer, Macular purpura, Atrophic scars, Ecchymosis ORPHA:542643
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Abnormal morphology of female internal genitalia, Emphysema, Ungual fib... ORPHA:538
Williams-Beuren Syndrome
Osteopenia, Peripheral pulmonary artery stenosis, Colonic diverticula, Gastroesophageal reflux, C... OMIM:194050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Radiation Proctitis
Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro... ORPHA:70475
Moderate Hemophilia A
Gastrointestinal hemorrhage, Limitation of joint mobility, Subdural hemorrhage, Joint swelling, H... ORPHA:169805
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Abnormal lung lobation, Bicornuate uterus, Hip dislocation, Pulmonary hypoplasia ORPHA:958
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Joint stiffness, Portal hypertension, Splenomegaly, Joi... ORPHA:465508
1Q41Q42 Microdeletion Syndrome