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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
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Ollier Disease
Chondrosarcoma, Micromelia, Visceral angiomatosis, Abnormal cartilage morphology, Subcutaneous no... ORPHA:296
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement ORPHA:86820
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Skin ulcer, Neoplasm of the lung... ORPHA:424019
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer, Squamous cell c... ORPHA:409
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, O... ORPHA:2028
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Multiple Epiphyseal Dysplasia Type 1
Waddling gait, Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, ... ORPHA:93308
Necrobiosis Lipoidica
Abnormality of the hand, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Squamous cell carci... ORPHA:542592
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Osteochondrosis Of The Tarsal Bone
Antalgic gait, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossific... ORPHA:563991
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... ORPHA:1345
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Waddling gait, Premature osteoarthritis, Hip osteoarthritis, Osteochondrit... OMIM:165800
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Abnormal eyelid morphology, Lymphoma, Erythema, Hypopigmented skin pat... ORPHA:2584
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Dermal atr... ORPHA:525
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ... ORPHA:2762
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Skin ulcer, Squamous cell carcinoma, Anal canal squa... ORPHA:217390
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ab... ORPHA:251992
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A... ORPHA:79493
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Abnormality ... ORPHA:1114
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis... ORPHA:166002
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma, Papule ORPHA:493
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Chilblain Lupus
Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis, Finger swelling, Erythematous papule ORPHA:90280
Epiphyseal Dysplasia, Multiple, 1
Waddling gait, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu v... OMIM:132400
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Epiphyseal Dysplasia, Multiple, 2
Waddling gait, Broad-based gait, Knee osteoarthritis, Genu varum, Osteochondritis dissecans, Flat... OMIM:600204
Visceral Myopathy 2
Intestinal obstruction, Barrett esophagus, Intestinal pseudo-obstruction, Intestinal malrotation,... OMIM:619350
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Difficulty wal... ORPHA:564003
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Pseudoachondroplasia
Joint laxity, Waddling gait, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Waddling gait, Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movemen... ORPHA:99642
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Delayed eruption of teeth ORPHA:63442
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiff... OMIM:208230
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Skin ... ORPHA:424016
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Conjunctival hamartoma, Skin ulcer ORPHA:312
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Malar flattening, Osteoarthritis, Micrognathia ORPHA:166100
Hemophilia A
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage OMIM:306700
Werner Syndrome
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Increased bone min... ORPHA:902
Neuropathy, Hereditary Sensory, Type Iic
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy OMIM:614213
Blue Rubber Bleb Nevus
Hypermelanotic macule, Rectal prolapse, Volvulus, Intestinal bleeding, Hemangioma, Intussusceptio... OMIM:112200
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Chilblain Lupus 1
Autoamputation of digits, Skin ulcer OMIM:610448
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures OMIM:616833
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Osteolysis, Skin ulcer, Neoplasm of the lung, Melanoma, Palmoplantar keratoderma, Palmo... ORPHA:659
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Ankle swelling, Joint stiffness, Iridocyclitis, Knee ... ORPHA:85408
Hemochromatosis, Type 4
Cardiomyopathy, Osteoarthritis, Arrhythmia, Anemia OMIM:606069
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Acquired Ichthyosis
Erythema, Lymphoma, Hyperkeratosis, Neoplasm, Palmoplantar keratoderma, Multiple myeloma, Dry ski... ORPHA:454
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Spondyloepimetaphyseal Dysplasia, Irapa Type
Waddling gait, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Limited elbow extension OMIM:271650
Pyoderma Gangrenosum
Myelodysplasia, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, My... ORPHA:48104
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Malar flattening, Premature osteoarthritis OMIM:184840
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Neoplasm, High pa... ORPHA:235
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Rectal prolapse, Clubbing, Multiple gastric poly... OMIM:175200
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Multiple Epiphyseal Dysplasia, Beighton Type
Waddling gait, Abnormal acetabulum morphology, Antalgic gait, Joint stiffness, Osteoarthritis, Li... ORPHA:166011
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension OMIM:610947
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... OMIM:604416
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia, J... ORPHA:220402
Acrogeria
Aplasia/Hypoplasia of the skin, Small hand, Skin ulcer, Short foot, Excessive wrinkled skin, Thin... ORPHA:2500
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Chromomycosis
Erythematous macule, Abnormal lung morphology, Subcutaneous nodule, Verrucous papule, Osteolysis,... ORPHA:182
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Melioidosis
Shock, Foot osteomyelitis, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatitis, Acute... ORPHA:31202
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Prolidase Deficiency
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Arachnodactyly, Erythema, Skin ... ORPHA:742
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Meige Disease
Skin ulcer, Angiosarcoma, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis... ORPHA:90186
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Osteolysis, Skin ulce... ORPHA:1657
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Joint hyperflexibility, Osteoarthritis ORPHA:90653
X-Linked Agammaglobulinemia
Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Hypopigmented skin patches, Skin ul... ORPHA:47
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Recurrent bronchitis OMIM:604571
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Squamous cell carcinoma, Gastrointestinal inflammation, Atrophic scars, Ba... ORPHA:79405
Reticular Dysgenesis
Recurrent respiratory infections, Skin ulcer, Malabsorption ORPHA:33355
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Multiple lipomas, Papi... OMIM:175100
Isolated Agammaglobulinemia
Recurrent respiratory infections, Pneumonia, Malabsorption, Skin ulcer, Clinodactyly of the 5th toe ORPHA:229717
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Epicanthus, Rectal prolapse, Small hand, Pulmonary lymphangiectasia, Narrow palate, Short foot, P... OMIM:235510
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Sydenham Chorea
Septic arthritis, Unsteady gait, Endocarditis ORPHA:306731
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Palmoplantar blistering, Skin erosion, Localized skin lesion, Squamous cell carcinoma, Atypical s... ORPHA:79410
Dracunculiasis
Subcutaneous nodule, Skin ulcer ORPHA:231
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abnormal lung morphology, Erythema, Subcutaneous nodul... ORPHA:767
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Recurrent sinopulmonary infections, Pneumonia, Myelodysplasia... ORPHA:486
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus, Pulmonary hypoplasia OMIM:615524
Dyskeratosis Congenita
Anorectal anomaly, Neoplasm, Skin vesicle, Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic... ORPHA:1775
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Craniosynostosis, Atelectasis, Lymphoma, Skin ulcer... ORPHA:2314
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopath... ORPHA:37748
Asbestos Intoxication
Cyanosis, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Hypoxemia,... ORPHA:2302
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Laron Syndrome
Delayed eruption of teeth, Osteoarthritis, Abnormality of the elbow, Micrognathia ORPHA:633
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Abnormality of the upper limb, Skin ulcer, Reduced bone mineral... ORPHA:834
Hemochromatosis, Type 2A
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhyt... OMIM:602390
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Sandal gap, Single transverse palmar crease, Redundant skin, Atelectasis, Rectal prol... OMIM:613177
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... OMIM:263000
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Squamous cell carcinoma, Gastrointestinal inflammation, Atrophic scars, Ba... ORPHA:79406
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Finger syndactyly, Ectropion, Camptodactyly of finger,... ORPHA:2907
Schopf-Schulz-Passarge Syndrome
Poroma, Multiple eyelid margin cysts, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcino... OMIM:224750
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow, Palmoplantar hype... OMIM:602540
Buerger Disease
Skin ulcer ORPHA:36258
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Microretrognathia, Waddling gait, Phalangeal dislocation, Osteoa... OMIM:251450
Morgagni-Stewart-Morel Syndrome
Hypertension, Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the gastrointestinal tract, Osteomalacia, Micromelia, Camptodactyly of... ORPHA:2176
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Gastroesophageal reflux ORPHA:36386
Pseudoachondroplasia
Joint laxity, Waddling gait, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist... OMIM:177170
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Atrop... ORPHA:79411
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Papillary thyroid carc... ORPHA:247806
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent pneumonia, Pyoderma gangrenosum... OMIM:616576
Cutaneous Neuroendocrine Carcinoma
Erythematous macule, Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Skin nodule, B... ORPHA:79140
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthr... ORPHA:85438
Perching Syndrome
Cyanosis, Dysphagia OMIM:617055
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Stomach cancer, Esoph... ORPHA:79501
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... ORPHA:79126
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Flynn-Aird Syndrome
Bone cyst, Dermal atrophy, Skin ulcer ORPHA:2047
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Anorexia, Pulmonary edema ORPHA:330012
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... OMIM:620321
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pattern on pulmonary ... OMIM:610921
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Carcinoma, Squamous cell carcinoma, Palmoplantar keratoderma, Follicular hyperkera... OMIM:615225
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Abnormality of the upper limb, Nevus flammeus, Papule ORPHA:624
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis ORPHA:567544
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Acral ulceration, Osteolytic defects of the phalanges of the hand OMIM:613115
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Epidermoid cyst, Multiple gastric polyps, Papill... ORPHA:79665
Acquired Purpura Fulminans
Macule, Erythematous macule, Pyoderma gangrenosum, Neoplasm, Macular purpura ORPHA:49566
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... ORPHA:69126
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Micrognathia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis,... OMIM:618000
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Chime Syndrome
Epicanthus, Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Osteolysis, Skin ulcer, Ac... ORPHA:3474
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Malabsorption, Erythema, Skin... ORPHA:37
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Skin ulcer ORPHA:2218
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:2141
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Pneumothorax, Anorexia ORPHA:1302
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Toxic Epidermal Necrolysis
Macule, Recurrent respiratory infections, Gastrointestinal hemorrhage, Entropion, Abnormal pleura... ORPHA:537
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Xerostomia, Osteolysis, Skin ulcer, Gastroesophageal reflux, Pulmonary fibrosis, D... ORPHA:220393
Sweet Syndrome
Acute myeloid leukemia, Abnormality of the hand, Hematological neoplasm, Skin nodule, Pyoderma ga... ORPHA:3243
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of... ORPHA:47612
Cowden Syndrome 1
Skin tags, Colonic diverticula, Acrokeratosis, Fibroadenoma of the breast, Breast carcinoma, Carc... OMIM:158350
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Recurrent respiratory infections, Cyanosis, Choking epis... ORPHA:2004
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... ORPHA:90291
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Micrognathia, Osteoarthritis, Arthritis, Malar flattening, Joint hy... OMIM:108300
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture OMIM:616531
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Lethal Congenital Contracture Syndrome 11
Flexion contracture of finger, Elbow flexion contracture, Pulmonary hypoplasia OMIM:617194
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Leishmaniasis
Skin plaque, Skin ulcer, Pallor, Papule ORPHA:507
Beta-Thalassemia
Pallor, Skin ulcer, Reduced bone mineral density ORPHA:848
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Nevus, Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Hyperkeratosis, Hamm... OMIM:620189
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Pfapa Syndrome
Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy ORPHA:42642
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Abnormality of female external geni... OMIM:193670
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Autoamputation of digits, Distal upper limb muscle weakness, Skin ulcer OMIM:613640
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Pneumothorax, Patellar hypoplasia, Hypoxemia, Abnorma... ORPHA:2257
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
Spondylometaphyseal Dysplasia, Kozlowski Type
Waddling gait, Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossifi... ORPHA:93314
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Anti-Glomerular Basement Membrane Disease
Arthritis, Vasculitis, Anemia, Persistence of primary teeth ORPHA:375
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent ... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... OMIM:610913
Chronic Granulomatous Disease
Macule, Recurrent respiratory infections, Hypermelanotic macule, Malabsorption, Pyloric stenosis,... ORPHA:379
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Classical Ehlers-Danlos Syndrome
Osteopenia, Epicanthus, Subcutaneous spheroids, Phalangeal dislocation, Hiatus hernia, Piezogenic... ORPHA:287
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... ORPHA:342
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arthriti... ORPHA:3287
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, High palate, Petechiae, Ptosis OMIM:170100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Loss of ambulation ORPHA:254361
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Dermatomyositis
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology, Gas... ORPHA:221
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Skin ulcer, Gastrointestinal infarctions, Keratoconjunctivitis sicca... ORPHA:91138
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Abnormality of the tarsal bones, Fibr... ORPHA:352540
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis, Spastic gait ORPHA:320365
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Pulmonary hypoplasia, Neonatal death OMIM:245650
Acute Radiation Syndrome
Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Dermal atrophy, Scaling skin ORPHA:454831
Hemochromatosis, Type 3
Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia OMIM:604250
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Arthritis, B lymphocytopenia, Recurrent... ORPHA:397596
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Recurrent respiratory infections, Skin ulcer ORPHA:1806
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Lymphade... OMIM:607115
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Pulm... OMIM:300978
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Ataxia, Pulmonary hypoplasia OMIM:618174
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Lethargy, Cyanosis, Ataxia ORPHA:71277
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema ORPHA:70589
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Dermal atrophy, Dry skin ORPHA:90342
Atypical Werner Syndrome
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Neoplasm of the breast... ORPHA:79474
Reynolds Syndrome
Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Keratoconjunctivitis sicca, Gastroeso... ORPHA:779
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Micrognathia, Abnormal joint morphology, Osteoart... ORPHA:1427
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Redundant neck skin, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial han... OMIM:301056
Birt-Hogg-Dubé Syndrome
Skin tags, Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathy... ORPHA:122
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammati... ORPHA:79409
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Congestive heart failure, Arthritis, Arrhythmia ORPHA:85446
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Ataxia, Peritonitis, Limitation of joint mobility, Vasculitis, Lymph... ORPHA:343
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Highly arched eyebrow, Tapered finger, Short toe, Cleft palate, Upslanted ... OMIM:239300
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Ptosis, Short metacarpal, Sacral dimple, Redundant neck skin, Brachydactyly, Epicanthus, Cubitus ... OMIM:617157
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Hypophosphatemic r... OMIM:307800
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Adult Syndrome
Finger syndactyly, Toe syndactyly, Nasolacrimal duct obstruction, Skin ulcer, Melanocytic nevus, ... ORPHA:978
Immunodeficiency 61
Recurrent otitis media, Arthritis, Recurrent sinusitis OMIM:300310
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Palmoplantar keratoderma, Aplasi... ORPHA:50944
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Alkaptonuria
Joint dislocation, Myocardial infarction, Joint stiffness, Osteoarthritis, Reduced bone mineral d... ORPHA:56
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Telecanthus, Single transverse palmar ... OMIM:303600
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... ORPHA:922
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Camptodactyly of finger, Synostosis of carpal bones ORPHA:896
Pgm3-Cdg
Recurrent respiratory infections, Lactose intolerance, Lymphoma, Recurrent pneumonia, Bronchiecta... ORPHA:443811
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... OMIM:617468
Multiple Epiphyseal Dysplasia Type 4
Waddling gait, Dislocation of the femoral head, Joint stiffness, Micrognathia, Flexion contractur... ORPHA:93307
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... ORPHA:2526
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, P... OMIM:620365
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Hematemesis, Lymphoma, Chr... ORPHA:906
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Pulmonary hypoplasia OMIM:614096
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Craniosynostosis, Choking episodes ORPHA:137914
Brucellosis
Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymitis, Lymphadenop... ORPHA:1304
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Arthritis, C... ORPHA:575
Fusariosis
Lung abscess, Pneumonia, Hematological neoplasm, Hypersensitivity pneumonitis, Subcutaneous nodul... ORPHA:228119
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... ORPHA:85410
Cystic Fibrosis
Osteopenia, Recurrent respiratory infections, Meconium ileus, Malabsorption, Rectal prolapse, Pne... ORPHA:586
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Erythema, Skin ulcer, Hyperkeratosis, Papule ORPHA:1334
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis ORPHA:2414
Calciphylaxis
Ectopic ossification, Skin ulcer ORPHA:280062
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Erythema, Hypopigmented ski... ORPHA:464
Hajdu-Cheney Syndrome
Osteopenia, Recurrent respiratory infections, Brachydactyly, Bowing of the long bones, Telecanthu... ORPHA:955
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Ivory epiphyses of the distal phalanges of the hand, Micro... OMIM:190350
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage OMIM:616414
Malakoplakia
Subcutaneous nodule, Skin ulcer, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon... ORPHA:556
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Premature osteoarthritis, Flexion contracture, Recurrent pneumonia... OMIM:215150
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Xeroderma Pigmentosum, Complementation Group E
Entropion, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, C... OMIM:278740
Vertical Talus, Congenital
Arthritis OMIM:192950
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Autoamputation of digits, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, G... OMIM:201300
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Congenital hip dislocation, Ti... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Congenital hip dislocation, Ti... ORPHA:98914
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Hypermelanotic macule, Squamous cell carcinoma, Palmoplantar keratod... OMIM:618373
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Hypoplastic frontal sinuses, Genu valgum... ORPHA:560
Xeroderma Pigmentosum, Complementation Group A
Entropion, Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin, Dermal atrophy, ... OMIM:278700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Broad-based gait, Ataxia, Atelectasis, Choreoathetosis, Hypoxem... OMIM:610978
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis OMIM:150550
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Graft Versus Host Disease
Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula... ORPHA:39812
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, External genital hypoplasia, Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology... ORPHA:183
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Gla... OMIM:300219
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dysphagia, Bronchogenic cyst ORPHA:2357
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Beta-Thalassemia Intermedia
Osteopenia, Osteoporosis, Skin ulcer, Reduced bone mineral density, Pallor, Hepatocellular carcinoma ORPHA:231222
Adult-Onset Still Disease
Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Leukocytosis, Sp... ORPHA:829
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Meckel Syndrome 14
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Genu varum ORPHA:93356
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis,... OMIM:612260
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Nevus, Rhabdomyosarcoma, Subcutaneous nodule, Hypopigmented s... ORPHA:626
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Splenomegaly, Dental malocclusion, Arthritis, C... ORPHA:61
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... ORPHA:199241
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Pulmonary hypoplasia OMIM:191830
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Squamous cell carcinoma OMIM:613736
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Epidermoid cyst, Neoplasm of the central nervo... ORPHA:99818
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Dysphagia OMIM:616867
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... OMIM:243150
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Cowden Syndrome
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, H... ORPHA:201
Dominant Beta-Thalassemia
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pal... ORPHA:231226
Xeroderma Pigmentosum, Complementation Group C
Entropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous m... OMIM:278720
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopat... OMIM:142680
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Skin rash, Ataxia, Splenomegaly, Uveitis, Lymphadenopathy, Arthr... ORPHA:36412
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... ORPHA:60025
Giant Cell Arteritis
Abnormal pleura morphology, Recurrent pharyngitis, Skin ulcer, Gastrointestinal infarctions, Glos... ORPHA:397
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Gene... ORPHA:93352
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... ORPHA:95459
Pallister-Hall-Like Syndrome
Glioma, Hip dislocation, Pulmonary hypoplasia, Hypothalamic hamartoma, Micropenis OMIM:241800
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Recurrent respiratory infections, Abnormal morphology of female internal genitali... ORPHA:1839
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Tapered finger OMIM:181600
Lyme Disease
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis ORPHA:91546
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis ORPHA:90038
Overlap Myositis
Subluxation of the small joints of the hand, Raynaud phenomenon, Arthritis, Leukopenia, Hypertens... ORPHA:206572
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Cystic Fibrosis
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent pneumonia, Ileu... OMIM:219700
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o... ORPHA:169802
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Elevated bronchoalveolar... OMIM:608710
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Join... ORPHA:809
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... ORPHA:740
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Wilson Disease
Thrombocytopenia, Splenomegaly, Hepatitis, Joint swelling, Arthritis, Difficulty walking, Acute h... ORPHA:905
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Gait disturbance, Arrhy... ORPHA:3099
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Palpebral edema, Erythema, Skin ulcer, Pulmonary fibrosis, Dysphagia... ORPHA:93672
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Thrombocytopenia, Arthritis, ... ORPHA:448237
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Beta-Thalassemia Major
Bowing of the long bones, Osteoporosis, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pal... ORPHA:231214
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Loss ... ORPHA:666
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Neoplasm of the skeletal syst... ORPHA:2396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... OMIM:304790
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Williams Syndrome
Osteopenia, Redundant skin, Rectal prolapse, Gastroesophageal reflux, Clinodactyly of the 5th fin... ORPHA:904
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Multiple pterygia OMIM:601809
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Pulmonary hypoplasia, Webbed neck ORPHA:1486
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Lymphadenopa... OMIM:617591
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pericallosal lipoma ORPHA:3309
Dravet Syndrome
Impulsivity, Bradykinesia, Progressive gait ataxia, Limited knee extension, Obsessive-compulsive ... ORPHA:33069
Teebi Hypertelorism Syndrome 1
Sagittal craniosynostosis, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrot... OMIM:145420
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibril... ORPHA:284984
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... ORPHA:822
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swelling, Juvenil... ORPHA:85414
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Dysphagia, Squamous cell carcinoma, Atr... OMIM:226600
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of laug... ORPHA:391428
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema, Burkitt lymphoma, Disseminated cutaneous warts OMIM:618307
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Sparse eyelashes, Myelodysplasia, ... OMIM:305000
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... ORPHA:355
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ata... OMIM:619580
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Purpura, B-cell lymphoma,... ORPHA:91139
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... OMIM:614204
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Mitral regurgitation, Congenital fing... OMIM:615582
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Ataxia, Portal hypertension, Raynaud phenomenon, Leukocytosis,... OMIM:615688
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... ORPHA:99956
Cat Eye Syndrome
Preauricular pit, Epicanthus, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radiu... OMIM:115470
Majeed Syndrome
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Congen... ORPHA:77297
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Hemangiomatosis, Skin ulcer, Erythematous plaque, Hypertr... ORPHA:90307
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, ... ORPHA:3452
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... ORPHA:2137
Leprosy
Urticarial plaque, Hypopigmented macule, Autoamputation of digits, Absent eyebrow, Skin nodule, L... ORPHA:548
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmopla... OMIM:610644
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Hypoxemia, Pleural effusion, Generalized abnormality o... ORPHA:2902
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia, Flat acetabular roof OMIM:256050
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Squamous cell carcinoma, Multiple cafe-au-lait spots, Skin plaque, Ve... ORPHA:302
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Abnormal external genitalia, Cyanosis, Bronc... ORPHA:1199
Rothmund-Thomson Syndrome Type 2
Osteopenia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, High palate, Short pha... ORPHA:221016
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Pulmonary artery hypoplasia, M... ORPHA:2326
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... OMIM:613390
Williams-Beuren Syndrome
Osteopenia, Hallux valgus, Medial flaring of the eyebrow, Epicanthus, Colonic diverticula, Blepha... OMIM:194050
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Secondary Non-Traumatic Avascular Necrosis
Difficulty walking, Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Corneal pterygium, Symblepharon, Skin ulcer OMIM:245660
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Erythema, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, N... OMIM:278760
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... ORPHA:36234
Xeroderma Pigmentosum, Variant Type
Entropion, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis, Dermal atrophy, Cutaneo... OMIM:278750
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Gout OMIM:618061
Pilomatrixoma
Pilomatrixoma, Subcutaneous nodule, Neoplasm of head and neck ORPHA:91414
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage OMIM:619714
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Portal hypertension, Joint stiffness, Splenomegaly, Congestive heart failure, Osteop... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia OMIM:619423
Livedoid Vasculopathy
Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule ORPHA:542643
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Epidermoid cyst, Angiofibr... ORPHA:733
Matthew-Wood Syndrome
Abnormality of the uterus, Cryptorchidism, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Kindler Epidermolysis Bullosa
Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Esophageal stricture,... ORPHA:2908
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Rectovaginal... OMIM:619708
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Moderate Hemophilia A
Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Intraventricular ... ORPHA:169805
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Atypical or... OMIM:277900
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Hunter-Macdonald Syndrome
Aortic regurgitation, Premature osteoarthritis, Hypertension, Mitral regurgitation, Camptodactyly... OMIM:611962
Leprechaunism
Hyperkeratosis, Large hands, Rectal prolapse, Megarectum ORPHA:508
Primary Sjögren Syndrome
Lymphoproliferative disorder, Lymphocytic interstitial pneumonia, Bronchitis, Parotitis, Lymphoma... ORPHA:289390
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Serkal Syndrome
Abnormal penis morphology, Sex reversal, Hypospadias, Pulmonary hypoplasia ORPHA:139466
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Osteomalacia, Ma... ORPHA:534
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Pulmonary hypoplasia, Dysphagia ORPHA:171430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia OMIM:617056
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Akinesia, Cryptorchidism, Pulmonary hypoplasia, Pterygium ORPHA:994
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Arachnodactyly, Cigarette-paper scars, Osteolysis, Hypopigmente... ORPHA:678
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Uterus didelphys, Hip dislocation, Bicornuate uterus, Pulmonary hypoplasia ORPHA:958
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Short phalanx of finge... ORPHA:221008
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... OMIM:619510
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Polycystic o... ORPHA:2298
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Aicardi Syndrome
Skin tags, Proximal placement of thumb, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, ... OMIM:304050
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Ataxia, Retro... ORPHA:117
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Hereditary Methemoglobinemia
Athetosis, Cyanosis ORPHA:621
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Hypoplasia of the ut... OMIM:601186
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decre... ORPHA:1855
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Ataxia, Gout ORPHA:411543
Rheumatoid Arthritis
Joint stiffness, Vasculitis, Joint swelling, Polyarticular arthritis, Rheumatoid arthritis OMIM:180300
Chronic Graft Versus Host Disease
Esophageal ulceration, Esophageal stricture, Erythema, Pneumothorax, Intermittent generalized ery... ORPHA:99921
Dyskeratosis Congenita, Digenic
Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis, Melanoma, Basal cell carcino... OMIM:620040
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Elevated circulating growth hormone concentration, Osteoarthrit... ORPHA:314769
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Pulmonary hypoplasia, Webbed neck,... OMIM:618316
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co... ORPHA:99889
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... ORPHA:244
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pust... ORPHA:247353
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Partial anomalous pulmonary venous return, Cardiac to... OMIM:608978
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Arthritis OMIM:619825
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:860
Leukocyte Adhesion Deficiency, Type I
Rectal abscess, Skin ulcer OMIM:116920
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... ORPHA:32960
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Akinesia, Multiple pterygia, Pulmonary hypoplasia OMIM:253290
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Micrognathia, Hypoplas... ORPHA:828
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Genu valgum, Gait disturbance, Gait imbalance, Difficulty walking,... ORPHA:488627
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Bruising susceptibility, Decreased testicular siz... ORPHA:335
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Microgastria, Hiatus... ORPHA:2538
Acromegaly
Mandibular prognathia, Broad jaw, Acne, Elevated circulating growth hormone concentration, Osteoa... ORPHA:963
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Pulmonary hypoplasia, Webbed neck, Wormian bones, Pleural effusion OMIM:616897
Pulmonary Arteriovenous Malformation
Cyanosis, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage ORPHA:2038
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bron... OMIM:244400
Paraneoplastic Pemphigus
Skin erosion, B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Elevated circulating growth hormone concentrati... ORPHA:2796
Tarp Syndrome
Broad-based gait, Cyanosis, Cryptorchidism, Pulmonary hypoplasia, Widely patent fontanelles and s... ORPHA:2886
Breath-Holding Spells
Cyanosis OMIM:607578
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Caudal Regression Syndrome
Impulsivity, Cryptorchidism, Pulmonary hypoplasia, Ambiguous genitalia, Abnormal vertebral segmen... ORPHA:3027
Odontochondrodysplasia 1
Recurrent respiratory infections, Genu recurvatum, Flat acetabular roof, Delayed ossification of ... OMIM:184260
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Respiratory tract infection, Subcutaneous nodule, Skin ulcer, Conjunctival hyperemia, ... ORPHA:68
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Acantholysis, Pneumonia, Oral-pharyngeal dysphagia, Intestinal perforat... ORPHA:95455
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... ORPHA:449280
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Raynaud phenomenon, Lymphadenopathy, Arthri... ORPHA:93552
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Cryptorchidism, Pterygium, Pulmonary hypoplasia OMIM:224410
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Intraventricular hem... ORPHA:420741
Kid Syndrome
Sparse eyelashes, Equinus calcaneus, Coxa valga, Scarring alopecia of scalp, Skin nodule, Posteri... ORPHA:477
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Recurrent ... ORPHA:900
Congenital Tracheomalacia
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... ORPHA:95430
Ethylene Glycol Poisoning
Addictive alcohol use, Cyanosis, Ataxia, Pulmonary edema ORPHA:31826
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation, Malar flattening OMIM:184100
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Emphysema, Pulmonary carcinoid tumor, Papillary renal cell carc... ORPHA:363618
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Pulmonary... ORPHA:86822
Satoyoshi Syndrome
Abnormality of the knee, Abnormal joint morphology, Hypoplasia of the uterus, Hypoplasia of the o... ORPHA:3130
Kniest Dysplasia
Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, Bilateral ptosis, De... ORPHA:485
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis OMIM:109650
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... ORPHA:100026
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Immunoglobulin A Vasculitis
Macule, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Gastrointestinal infarctions, Purpura ORPHA:761
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Pulmonary hy... OMIM:271520
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Pulmonary hypoplasia, Multiple pterygia OMIM:312150
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Flexion contracture, Vasculitis, Abnormal facial skeleton morpholo... ORPHA:90289
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Pulmonary hypoplasia ORPHA:2655
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis ORPHA:3426
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Esophageal varix, Abnormal pulmonary interstitial morphology, Skin ulcer, Gastric ... ORPHA:2072
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Abnormality of the elbow, Uterus didelphys, Abnormality of the wrist ORPHA:2491
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Gait disturbance, Acrocyanosis ORPHA:1764
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Multiple pterygia, Cryptorchidism, A... ORPHA:2990
Adiposis Dolorosa
Telangiectasia of the skin, Arthritis, Recurrent skin infections ORPHA:36397
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ... OMIM:250790
Lymphangioleiomyomatosis
Recurrent respiratory infections, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Atelectasis,... ORPHA:538
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypoplasia ORPHA:250999
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Genu recurvatum, Protrusio acetabuli, Micrognathia... OMIM:154700
Hermansky-Pudlak Syndrome
Anorexia, Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fi... ORPHA:79430
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplasia/Hypoplasia of th... ORPHA:2909
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormal cartilage morphology, Flared metaphysis, Abnormal ... ORPHA:2347
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout... OMIM:232800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Pulmonary artery stenosis, Sex reversal, Bilateral lung agenesis, Congeni... OMIM:611812
Chiari Malformation Type Ii
Cyanosis, Ataxia, Dysphagia OMIM:207950
Amed Syndrome, Digenic
Acute myeloid leukemia, Attention deficit hyperactivity disorder, Myelodysplasia, Hypoplasia of t... OMIM:619151
Histiocytoid Cardiomyopathy
Lethargy, Polycystic ovaries, Cyanosis, Pulmonary edema ORPHA:137675
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Craniosynostosis, Erythema, Atrophic scars, Palmoplant... ORPHA:79396
Carney Complex
Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Hepatocellular carcinoma, Thyroi... ORPHA:1359
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... ORPHA:3260
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Pulmonary hypoplasia OMIM:617895
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Genitopatellar Syndrome
Hip contracture, Small scrotum, Cryptorchidism, Patellar aplasia, Knee flexion contracture, Radio... ORPHA:85201
Gaucher Disease, Perinatal Lethal
Akinesia, Hyperkeratosis, Pulmonary hypoplasia, Dysphagia, Neonatal death, Petechiae, Purpura OMIM:608013
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Skin erosion, Esophageal stricture, Dysphagia, Squamous cell c... ORPHA:89842
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Bronchiectasis, Ute... OMIM:123700
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Sparse eyelashes, Absent eyelashes, Short thumb, Sparse eyebrow, Oste... OMIM:268400
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Hypoplasia of the radius, Squamous cell carcinoma, Blepharophimosis, C... OMIM:613951
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Plague
Hematemesis, Localized skin lesion, Abnormality of the elbow, Enterocolitis, Skin ulcer, Acute in... ORPHA:707
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cubitus valgus, Cryptorchidism, Unsteady gait, Prolonged neonatal jaundice, Pulmonar... OMIM:214100
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Myelodysplasia, Premature graying of hair, Interstitial pneumonitis, Squamous cell carcin... OMIM:127550
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Bilateral cryptorchidism, Respiratory infections in early life, Chordee, Pulmonary h... ORPHA:96179
Mucopolysaccharidosis Type 2
Splenomegaly, Limitation of joint mobility, Temporomandibular joint ankylosis, Abnormal epiphysea... ORPHA:580
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthriti... ORPHA:29207
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Raynaud phenome... ORPHA:324625
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Microphthalmia, Syndromic 1
Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal p... OMIM:309800
Loeys-Dietz Syndrome 3
Joint laxity, Atrial fibrillation, Protrusio acetabuli, Eosinophilic infiltration of the esophagu... OMIM:613795
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Dysplastic patella, Patell... OMIM:265000
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Radioulnar synostosis, Pulmonary hypoplasia, Micropenis, Joint contr... OMIM:248700
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... ORPHA:3016
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Squamous cell carcinoma,... OMIM:148210
Cushing Disease
Pituitary corticotropic cell adenoma, Osteoporosis, Skin ulcer, Thin skin, Ecchymosis, Striae dis... ORPHA:96253
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Dermal atrophy, Calcification of car... ORPHA:85202
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis, Limited elbow flexion/extension, Clito... OMIM:164745
Oculocutaneous Albinism Type 1B
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanocytic nevus ORPHA:79434
Blau Syndrome
Clear cell renal cell carcinoma, Camptodactyly of finger, Erythema, Xerostomia, Skin ulcer, Abnor... ORPHA:90340
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Pulmonary hypoplasia, Genu varum ORPHA:85166
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Webbed neck OMIM:617478
Orofaciodigital Syndrome Type 4
Micromelia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu varum, Finger... ORPHA:2753
Poems Syndrome
Lymphoproliferative disorder, Hypogonadism, Hemangioma, Pleural effusion, Acrocyanosis ORPHA:2905
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Dry skin ORPHA:220295
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovag... OMIM:236700
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Splenomegaly, Abnormality of the para... ORPHA:2969
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hyperactivity, Prominent metopic ridge, Hypospadias, Aggressive behavior, Cryptorc... OMIM:619148
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ... ORPHA:2556
Kniest Dysplasia
Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared metaphysis, Coxa v... OMIM:156550
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia, Dysphagia OMIM:616866
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Widely patent fontanelles and sutures OMIM:267430
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Pericardial And Diaphragmatic Defect
Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia OMIM:614407
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Vasculitis, Hepatit... ORPHA:2331
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphaden... OMIM:260920
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative colitis,... ORPHA:810
Perrault Syndrome 4
Gait ataxia, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary, Cubitus valgus OMIM:615300
Pagod Syndrome
Abnormal morphology of female internal genitalia, Agonadism, Pulmonary artery hypoplasia, Abnorma... ORPHA:991
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Pulmonary hypopl... ORPHA:980
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous me... OMIM:610651
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... ORPHA:728
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy... OMIM:300755
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Cyanosis, Ganglioneuroblastoma, Aggressive behavior, Recurrent upper respiratory trac... ORPHA:293987
Farber Disease
Abnormality of the knee, Thrombocytopenia, Flexion contracture, Osteoporosis, Abnormality of the ... ORPHA:333
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:555874
Complete Atrioventricular Septal Defect
Lethargy, Recurrent pneumonia, Cyanosis ORPHA:1329
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent pneumon... OMIM:243700
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Squamous cell carcinoma, Hyperkeratosis, Keratoconjunctivi... OMIM:601675
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... ORPHA:141127
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... OMIM:619381
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:1848
Acrorenal-Mandibular Syndrome
Hip dislocation, Uterus didelphys, Elbow flexion contracture, Bicornuate uterus, Pulmonary hypopl... OMIM:200980
Renal Agenesis
Absent vas deferens, Pulmonary hypoplasia, Aplasia/hypoplasia of the uterus ORPHA:411709
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Hydrocele testis, Pulmonary hypoplasia, Nephroblas... ORPHA:314588
Listeriosis
Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Ataxia, Pustule, Myocarditis, Peritonitis, Co... ORPHA:533
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Ehlers-Danlos Syndrome, Classic-Like
Poor wound healing, Ambiguous genitalia, female, Bicornuate uterus, Joint subluxation, Bruising s... OMIM:606408
Insensitivity To Pain, Congenital, With Anhidrosis
Autoamputation of digits, Acral ulceration OMIM:256800
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Neuropathic arthropathy OMIM:223900
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai... OMIM:615846
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Lymphadenop... ORPHA:536
Oculocutaneous Albinism Type 2
White eyelashes, White eyebrow, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutane... ORPHA:79432
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Acetabular spurs, Pulmonary hypoplasia OMIM:615503
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Septate vagina, Hamartoma of tongue, Uterus didelphys, Pulmonary hypoplasia, Neonatal death, Micr... OMIM:617925
Laryngotracheal Angioma
Cyanosis, Facial hemangioma ORPHA:137935
Aicardi-Goutieres Syndrome 1
Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechia... OMIM:225750
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias, Pulmonary hypoplasia ORPHA:2059
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Bilate... ORPHA:90797
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Seckel Syndrome 7
Hypoplasia of the uterus, Abnormal carpal morphology, Madelung deformity OMIM:614851
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Cyanosis ORPHA:3304
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... OMIM:249100
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Erythema nodosum, Abnormality of... ORPHA:228123
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Immunodeficiency 40
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Focal... OMIM:616433
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Pulmonary hypoplasia, Flat acetabular roof OMIM:614091
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia, Flat acetabular roof OMIM:151210
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Orchitis, Arthritis, Vasculitis in the sk... ORPHA:48435
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Elbow dislocation, Pulmonary hypoplasia, Abnormality of female external genitalia, Vaginal fistul... ORPHA:1112
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Respiratory tract infectio... ORPHA:2968
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, C... OMIM:278730
Stuve-Wiedemann Syndrome 1
Enlarged joints, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Knee flexion c... OMIM:601559
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bilobed right lung, Pulmonary hypoplasia OMIM:612284
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Repeated pneumothoraces, Large joint dislocations, Craniosynostosis, Phalangeal d... ORPHA:536467
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Double Outlet Left Ventricle
Cryptorchidism, Pulmonary artery stenosis, Cyanosis ORPHA:3427
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Septate vagina, Craniosynostosis, Bicornuate uterus, Rectov... OMIM:300707
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Recurrent lower respiratory tract infections, Cyanosis, Ataxia OMIM:618426
Diaphanospondylodysostosis
Nephroblastomatosis, Pulmonary hypoplasia, Webbed neck OMIM:608022
Split Cord Malformation
Talipes cavus equinovarus, Penetrating foot ulcers, Spinal cord tumor, Skin dimple, Capillary hem... ORPHA:573278
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Prominent metopic ridge, Hypospadias, Craniosynostosis, Cryptorc... ORPHA:2745
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pterygium, Pulmonary hypoplasia ORPHA:1865
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Pulmonary hypoplasia OMIM:612530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Flat acetabular roof, Stillbirth, Pulmonary hypoplasia, Ambi... OMIM:616300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Thymus hyperplasia, Micrognathia OMIM:619036
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... ORPHA:2035
Microcephaly-Micromelia Syndrome
Neonatal death, Humeroradial synostosis, Pulmonary hypoplasia, Craniosynostosis OMIM:251230
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Pulmonary hypoplasia, Pulmonary artery atresi... ORPHA:1692
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Recurrent otitis media, Macrodontia of... OMIM:154780
Microsporidiosis
Pneumonia, Bronchitis, Anorexia, Abnormal endometrium morphology, Abnormal fallopian tube morphol... ORPHA:2552
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Fa... OMIM:270400
Vacterl With Hydrocephalus
Cryptorchidism, Hip dislocation, Pulmonary hypoplasia, Abnormal fallopian tube morphology ORPHA:3412
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Ataxia, Abnormal T cell subset distribution, Arthritis, B ly... ORPHA:221139
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Congenital hip dislocation, Erythema, Hyperkeratosis, Stillbirth, Pulmonary hypopl... OMIM:308050
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Epicanthus, Anal stenosis, Proportionate shortening of all digits, Tapered finger, Hyperpigmented... ORPHA:280633
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Osteoporosis, Gout, Hypertension, Inflammation of the large in... OMIM:232220
Encephalopathy, Ethylmalonic
Acrocyanosis, Ataxia, Petechiae OMIM:602473
Bloom Syndrome
Syndactyly, Lymphoma, Recurrent upper respiratory tract infections, Spotty hypopigmentation, Bron... OMIM:210900
Chand Syndrome
Atelectasis, Ataxia, Imperforate hymen ORPHA:1401
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis, Hypertension, Hypotension, Anemia OMIM:174000
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... OMIM:615067
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Atelosteogenesis Type I
Joint dislocation, Pulmonary hypoplasia ORPHA:1190
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Atelectasis, Neonatal death, Pulmonary hypoplasia, Ambiguous genitalia OMIM:269860
Satoyoshi Syndrome
Hypoplasia of the uterus, Genu valgum OMIM:600705
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth,... OMIM:256520
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Congenital hip dislocation, Cyanosis, Block vertebrae, Total anomalous p... OMIM:306955
Scimitar Syndrome
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... ORPHA:185
Fryns Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbirth, Chylothorax, Pulmonary... OMIM:229850
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive ... ORPHA:353281
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the ... OMIM:154230
Alg9-Cdg
Prominent metopic ridge, Abnormal lung lobation, Bicornuate uterus, Hypoplasia of the ovary, Pulm... ORPHA:79328
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Atelectasis, Recurrent lower respiratory tract infections, Dysphagia ORPHA:258
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Chronic neutropenia, Epistaxis, Carious teeth, Osteoporosis, Enterocolitis, Gout, Inc... ORPHA:79259
Marburg Hemorrhagic Fever
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Maculo... ORPHA:99826
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Pulmonary artery stenosis, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Prominent scalp veins, Subluxation of the small joints of the hand, Sagittal c... ORPHA:536471
Otopalatodigital Syndrome Type 2
Hypospadias, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Pulmonary hypoplasia,... ORPHA:90652
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Oligomeganephronia
Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Atopic Keratoconjunctivitis
Keratitis, Keratoconjunctivitis sicca, Blepharitis, Corneal neovascularization ORPHA:163934
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis ORPHA:159
Lujo Hemorrhagic Fever
Purpura, Atelectasis, Ecchymosis, Dysphagia ORPHA:319213
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Meier-Gorlin Syndrome 7
Hypospadias, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Cryp... OMIM:617063
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Abnormal lung lobation, Stillbirth, Abnormal vagina morphology OMIM:236680
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Autoamputation of digits, Acral ulceration, Hepatocellular carcinoma OMIM:256810
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Cardiac-Urogenital Syndrome
Bifid scrotum, Ambiguous genitalia, Unilateral cryptorchidism, Cryptorchidism, Partial anomalous ... OMIM:618280
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis ORPHA:92050
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Glycogen Storage Disease Ic
Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of ... OMIM:232240
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Abnormal lung ... OMIM:265380
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Elbow flexion contracture, Pulmonary hypoplasia, Pleural effusion OMIM:620369
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... ORPHA:227990
Neu-Laxova Syndrome
External genital hypoplasia, Hypogonadism, Pulmonary hypoplasia, Ambiguous genitalia, Pterygium ORPHA:2671
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Anal fissure, Osteoporosis, Dysphagia, Squamous cell carcinoma, Gastrointestinal infl... ORPHA:79408
Pitt-Hopkins Syndrome
Ataxia, Aggressive behavior, Cryptorchidism, Hodgkin lymphoma, Gait ataxia, Self-injurious behavi... ORPHA:2896
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Tetrasomy 9P
Joint dislocation, Hyperactivity, Pilomatrixoma, Cryptorchidism, Jaundice, Oligozoospermia, Arthr... ORPHA:3310
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Peripheral pulmonary vessel aplasia,... OMIM:273395
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Choreoathetosis, Pulmonary hypoplasia, Hydrocele testis OMIM:614080
Achondroplasia
Limited elbow extension, Pulmonary hypoplasia, Genu varum OMIM:100800
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Cryptophthalmos, Anal atresia OMIM:617666
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Telangiectasia of the skin, Transient ischemic att... ORPHA:286
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Hypospadias, Cutis marmorata, Facial capillary hemangioma, Cryptorchidism, A... ORPHA:818
Atelosteogenesis Type Ii
Elbow dislocation, Facial midline hemangioma, Elbow flexion contracture, Genu valgum, Pulmonary h... ORPHA:56304
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal lung lobation, Bicornua... ORPHA:2052
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Pentalogy Of Cantrell
Hypospadias, Pulmonary hypoplasia ORPHA:1335
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Jaundice, Papillary cystadenoma of the epididymis, Arthritis, R... ORPHA:93111
Mosaic Trisomy 16
Abnormal lung morphology, Hypospadias, Pulmonary hypoplasia ORPHA:1708
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... OMIM:187300
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud ... ORPHA:51
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Inability to walk, Difficulty walking, Dysphagia ORPHA:365
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Genitopatellar Syndrome
Hip contracture, Small scrotum, Congenital hip dislocation, Enlarged labia minora, Cryptorchidism... OMIM:606170
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hypertensive crisis, Acne, Abnormal dental ename... ORPHA:567
Meckel Syndrome 12
Hypoplasia of the uterus, Antecubital pterygium, Vaginal atresia OMIM:616258
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopathy, Splenomega... OMIM:181000
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Dysbetalipoproteinemia
Acute pancreatitis, Angina pectoris, Gout ORPHA:412
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labia majora, A... ORPHA:83628
Congenital Erythropoietic Porphyria
Osteopenia, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Loss of eyela... ORPHA:79277
Joubert Syndrome 21
Ataxia, Pulmonary hypoplasia, Dysphagia OMIM:615636
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Myeloid leukemia, Streak ovary, Hypospadias, Wormian bones, Recurrent pn... ORPHA:798
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hypospadias, Cutis marmorata, Aggressive behavior, Aplasia/Hypo... OMIM:135900
Pilomatrixoma
Pilomatrixoma OMIM:132600
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pr... ORPHA:358
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Myasthenia Gravis
Acrocyanosis, Rheumatoid arthritis, Dysphagia ORPHA:589
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Cyanosis, Ataxia, Hypospadias OMIM:252010
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Pulmonary hypoplasia, Hamartoma of tongue OMIM:616546
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Orthostatic hypotension due to autonomic dysfu... ORPHA:642
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Gastroesophageal reflux, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrix... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Gastroesophageal reflux, Syndactyly, Broad hallux, Highly arched eyebrow, Pilomatrix... ORPHA:353277
Thoracoabdominal Syndrome
Hypospadias, Pulmonary hypoplasia OMIM:313850
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus, Synostosis of carpal bones ORPHA:2438
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Webbed ... OMIM:620025
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Pulmonary hypoplasia, Hamartoma of tongue OMIM:263520
Distal Deletion 15Q
Hypospadias, Cryptorchidism, Hip dislocation, Genu valgum, Pulmonary hypoplasia, Attention defici... ORPHA:1596
Glycogen Storage Disease Ia
Hypertension, Osteoporosis, Pancreatitis, Gout OMIM:232200
Fucosidosis
Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality ORPHA:349
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abs... OMIM:601495
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Temporo... ORPHA:217085
Ogden Syndrome
Prominent metopic ridge, Congenital hip dislocation, Prematurely aged appearance, Delayed cranial... OMIM:300855
Restrictive Dermopathy 1
Prominent superficial blood vessels, Hypospadias, Epidermal hyperkeratosis, Stillbirth, Pulmonary... OMIM:275210
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Small scrotum, Prematurely aged... OMIM:612289
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Craniosynostosis, Webbed neck ORPHA:1521
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Pulmonary hypoplasia, Micropenis, Vaginal atresia... OMIM:219000
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint mobility, Temporo... ORPHA:217093
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Delayed ossification of carpal bones, Long... OMIM:140000
Meckel Syndrome, Type 1
External genital hypoplasia, Camptodactyly of finger, Cryptorchidism, Ambiguous genitalia, female... OMIM:249000
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Carpal synostosis, Hypergonadotropic hypogonadism, Tarsal synostosis OMIM:609441
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal ... ORPHA:436252
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Wormian bones, Hypoplastic labia minora, Met... OMIM:269150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Jaundice, Pulmonary hypoplasia OMIM:208500
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Attention deficit hyperactivity disorder, Webbed neck OMIM:614083
Fetal Akinesia Deformation Sequence 1
Hip contracture, Camptodactyly of finger, Cryptorchidism, Wrist flexion contracture, Stillbirth, ... OMIM:208150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Ataxia, Gout OMIM:300661
Sacral Defect With Anterior Meningocele
Rectal abscess, Sacral lipoma, Bilateral talipes equinovarus, Dermoid cyst OMIM:600145
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Abnormal fingertip morphology, Skin erosion, Esophageal stricture, Pneumothorax, Osteo... ORPHA:79404
Lethal Congenital Contracture Syndrome 9
Antecubital pterygium, Pulmonary hypoplasia, Joint contracture of the hand, Wrist flexion contrac... OMIM:616503
Oeis Complex
Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female... OMIM:258040
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Micromelia, Bowing of the legs, Metatarsus adductus, Recurrent pneumonia, Flare... OMIM:271665
Aortic Arch Interruption
Cyanosis, Aortopulmonary window ORPHA:2299
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Hyperactivity, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Pneumonia, Myocarditis, Leukocytosis, Thrombocytopenia, Hy... ORPHA:544482
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Pulmonary hypoplasia ORPHA:50945
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, Co... ORPHA:83617
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Pulmonary hypoplasia, Hepatoblastoma, Po... ORPHA:731
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125
Loeys-Dietz Syndrome
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Thin skin, Uterine rupture, Bruisin... ORPHA:60030
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cryptorchidism, Enamel hypoplasia... ORPHA:2363
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Greenberg Dysplasia
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Eisenmenger Syndrome
Hypoxemia, Lethargy, Cyanosis, Aortopulmonary window ORPHA:97214
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Restrictive Dermopathy
Hypospadias, Camptodactyly of finger, Epidermal hyperkeratosis, Pulmonary hypoplasia, Webbed neck... ORPHA:1662
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Difficulty walking, Knee flexion contracture OMIM:617239
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... ORPHA:90794
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Pn... ORPHA:3404
Thrombocytopenia-Absent Radius Syndrome
Facial capillary hemangioma, Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patella... OMIM:274000
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion ORPHA:3109
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypoplasia, Limi... OMIM:618419
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Pulmonary hypoplas... ORPHA:93271
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:161700
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... OMIM:263650
Zygomycosis
Hematological neoplasm, Atelectasis, Pneumothorax, Acute infectious pneumonia, Pleural effusion ORPHA:73263
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Digeorge Syndrome
Atelectasis, Recurrent pneumonia, Hydrocele testis, Ovarian cyst, Patellar dislocation, Attention... OMIM:188400
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Abnormal pulmonary ve... ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Broad-based gait, Impulsivity, Cryptorchidi... OMIM:619503
Penile Agenesis
Cryptorchidism, Bilateral lung agenesis, Pulmonary hypoplasia, Absent penis, Ambiguous genitalia ORPHA:49
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Criss-Cross Heart
Cyanosis ORPHA:1461
Wolf-Hirschhorn Syndrome
Vertebral fusion, Hypospadias, Precocious puberty, Cryptorchidism, Hip dislocation, Radioulnar sy... OMIM:194190
Fanconi Anemia
Hypospadias, Myelodysplasia, Abnormal preputium morphology, Cryptorchidism, Hip dislocation, Azoo... ORPHA:84
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Choreoacanthocytosis
Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly... ORPHA:2388
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Craniosynostosis, Joint stiffness, Testicu... ORPHA:744
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Humeroradial synostosis, Aplasia of the uterus ORPHA:2879
Aspartylglucosaminuria
Mandibular prognathia, Macroorchidism, Joint stiffness, Carious teeth, Splenomegaly, Arthritis, C... ORPHA:93
Acrofacial Dysostosis 1, Nager Type
Hip dislocation, Urticaria, Radioulnar synostosis, Bicornuate uterus, Limited elbow extension OMIM:154400
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Ulnar deviation of the wrist, External genital hypoplasia, Interphalangeal joint c... ORPHA:96334
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Carpal synostosis, Small scrotum, Hypospadias, Tarsal synostos... OMIM:201750
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Congenital hip dislocation, Inability to walk, Cryptorchidism, Hip di... OMIM:601803
Renal Cysts And Diabetes Syndrome
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas defe... OMIM:137920
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Choreoathetosis, Hypoplasia of the uterus, Abnorm... ORPHA:3464
Limb-Mammary Syndrome
Psoriasiform dermatitis, Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Currarino Syndrome
Bicornuate uterus, Presacral teratoma, Septate vagina, Rectovaginal fistula OMIM:176450
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Micrognathia, Cryptorchidism,... OMIM:163950
Okamoto Syndrome
Bifid uterus, Prominent metopic ridge, Webbed neck ORPHA:2729
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Norrie Disease
Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Uterine ruptur... ORPHA:649
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Natal tooth, Recurrent skin infections, Camptodactyly of finger, Decreased response t... ORPHA:3455
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Small scrotum, Hypospadias, Cryptorchidism, Humero... OMIM:276820
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Cyanosis, Abnormal calcification of the carpal bones, Fused cervical ver... ORPHA:51608
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Rectal abscess OMIM:233690
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, ... OMIM:268300
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Ulnar-Mammary Syndrome
Small scrotum, Elbow flexion contracture, Bicornuate uterus, Shawl scrotum, Micropenis, Imperfora... OMIM:181450
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Limited elbow movement, Craniosynostosis, Cryptorchidism, ... OMIM:261540
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Rectal abscess OMIM:608203
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Craniofacial Microsomia 1
Block vertebrae, Pulmonary hypoplasia, Genu valgum OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Errfi1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Errfi1.

No publications found that use IMPC mice or data for Errfi1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Errfi1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Errfi1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Errfi1tm46527(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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