Not currently registered for phenotyping at IMPC

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

Gene Summary

collagen, type III, alpha 1
Tsk-2,  Col3a-1,  Tsk2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Col3a1 mutations

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

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

The table below shows human diseases associated to Col3a1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col3a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Thoracic aortic aneurysm, Patent ductus... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... ORPHA:229
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Immunodeficiency 18
Recurrent otitis media, Recurrent gastroenteritis, Decreased proportion of CD3-positive T cells, ... OMIM:615615
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Subarachnoid hemorrhage, Aortic disse... ORPHA:231160
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Impaired lymphocyte transfor... OMIM:617006
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious ence... OMIM:616098
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Recurrent gastroenteritis, Abnormal ... OMIM:615607
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Chronic di... OMIM:619281
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Aortic regurgit... ORPHA:91387
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Pressure-Induced Localized Lipoatrophy
Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Inflamma... ORPHA:90160
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Striae distensae, Pruritus on foot, Facial erythema, Pruritis on h... ORPHA:64745
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Aortic dissection OMIM:130090
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Diarrhea, B lymphocytopen... OMIM:618108
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Ehlers-Danlos Syndrome, Hypermobility Type
Osteoarthritis, Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Otitis media, Decrease... OMIM:312863
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal coronary artery morphology, Heart murmur... ORPHA:3400
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Immunodeficiency 70
Achalasia, Colitis, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Cel... OMIM:618969
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Mucoid diarrhea, Inflamma... OMIM:615767
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Eczema, Erysipelas, Premature skin wrinkling, Cutis laxa ORPHA:228240
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Dry skin, Facial erythema, Eczema, Allergic rhinitis, Atopic... OMIM:603165
Lamellar Ichthyosis
Pruritus, Dry skin, Erythroderma, Chronic otitis media, Lack of skin elasticity ORPHA:313
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Thoracic aorta calcification, Coarctation of aorta, H... ORPHA:402075
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Quinquaud Folliculitis Decalvans
Erythema, Recurrent skin infections, Pustule ORPHA:346
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Panniculitis-Induced Localized Lipodystrophy
Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Inflamma... ORPHA:90159
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat... ORPHA:90158
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Aortic root aneurysm, Congestive heart failure, Hypertrop... ORPHA:3342
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Classic Phenylketonuria
Eczema, Lack of skin elasticity ORPHA:79254
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Colitis, Autoimmune throm... ORPHA:911
Wiskott-Aldrich Syndrome 2
Eczema, Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy, Carotid artery occlusion OMIM:252350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Anemia, Recurrent sinusitis, Thrombo... OMIM:613101
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Antisynthetase Syndrome
Myositis, Pruritus, Myocarditis, Keratoconjunctivitis sicca, Lack of skin elasticity, Skin rash ORPHA:81
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Meester-Loeys Syndrome
Flexion contracture, Pulmonary artery aneurysm, Aortic dissection, Dilatation of the cerebral art... OMIM:300989
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin OMIM:146700
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613736
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Erythema, Pustule ORPHA:36237
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta OMIM:615779
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Congestive heart failure, Muscle fiber atrophy, Abnormal venous morpho... ORPHA:1900
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia, Dysphagia, Vomiting OMIM:613412
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Ascending tubular aorta aneurysm, A... OMIM:614816
Pseudoxanthoma Elasticum
Multiple lipomas, Pruritus, Hyperextensible skin, Striae distensae, Acne, Excessive wrinkled skin... ORPHA:758
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity ORPHA:1366
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Leukocytosis, Thrombocytosis, Interface hepatitis, Autoimmune hemo... OMIM:243150
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Splenomegaly, Anemia, Enterocolitis, Episodic vomi... OMIM:616050
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Chilblain Lupus
Pruritis on hand, Malar rash, Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulce... ORPHA:90280
Pruritus, Skin ulcer, Recurrent cutaneous abscess formation, Arthritis, Skin rash ORPHA:231
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Neoplasm of the lu... ORPHA:424019
Centrifugal Lipodystrophy
Lymphadenitis, Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Lack of facial subcuta... ORPHA:90156
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Stiff Skin Syndrome
Lack of skin elasticity, Lipoatrophy ORPHA:2833
Cocaine Intoxication
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Myocard... ORPHA:90068
Mal De Meleda
Erythema, Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of th... ORPHA:87503
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Lack of skin elasticity, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:1979
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Varicose veins, Aortic dissection OMIM:618343
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Neutropenia, Eczema, Dysphagia, Chronic ... OMIM:608809
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis, Soft skin, Hyperextensible skin, Soft, doughy skin OMIM:130010
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Leukopenia OMIM:615190
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Acute pancreatitis, Lymphadenitis, Sple... OMIM:618935
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Lack of skin elasticity OMIM:615381
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema, Atopic derma... OMIM:618282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Chronic neutropenia, Autoimmune hemolytic anemia, ... OMIM:614700
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Mycosis Fungoides
Eczema, Erythema, Psoriasiform dermatitis, Pruritus OMIM:254400
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Erythema, Pruritus, Inflammatory abnormality of the skin ORPHA:79099
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Congenital Factor Xii Deficiency
Penetrating foot ulcers, Retinal arteriolar occlusion ORPHA:330
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Myocardial infarction, Hypertension, Arterial stenosis, Generalized art... OMIM:208000
Acquired Ichthyosis
Erythema, Recurrent skin infections, Dry skin, Pruritus ORPHA:454
Loeys-Dietz Syndrome
Cardiac arrest, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Aortic aneurysm... ORPHA:60030
Immunodeficiency 104
Eczema, Pneumonia, Otitis media OMIM:608971
Leri Pleonosteosis
Lack of skin elasticity ORPHA:2900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Leukocytosis, Lung abscess, Gastrointestinal dysmotil... ORPHA:67
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Protracted diarrhea, Infectious encephalitis, Colitis, Neutropenia,... OMIM:209920
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Abnormal... OMIM:601612
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Coronary artery calcification, Congestive heart failure OMIM:614473
Immunodeficiency 55
Eczema, Recurrent skin infections, Dry skin OMIM:617827
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Palmoplantar scaling skin, Atopic dermatitis, Scaling skin, Dry skin ORPHA:530838
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Hyperextensible skin, Striae distensae OMIM:225310
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Scaling skin, Dry skin, Cutis laxa OMIM:105250
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Ascending tubular aorta aneurys... ORPHA:3287
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Erythema, Skin ulcer, Cardiomyopathy, Pericarditis, Ab... ORPHA:767
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Left ventricular outflow tract obst... OMIM:613854
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Erythema, Purpura, Skin rash ORPHA:889
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Pustule, Skin ulcer, Arthritis ORPHA:69126
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Recurrent otitis media, Atopic dermatitis, Recurrent skin infections, Cutaneous abscess OMIM:618944
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Membrano... OMIM:618999
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Loeys-Dietz Syndrome 3
Ascending aortic dissection, Abdominal aortic aneurysm, Left ventricular hypertrophy, Patent duct... OMIM:613795
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Aortic regurgitation, Patent ductus arteriosus, Aortic dissection, Pul... ORPHA:284984
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Aganglionic megacolon, Abnormality of the small intes... ORPHA:95427
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Right ventricular hypertrophy, Patent ductus arteriosus, Congest... ORPHA:860
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Bloody mucoid diarrhea, Tenesmus, Ulcer... ORPHA:810
Classic Mycosis Fungoides
Pruritus, Erythema, Eczema, Skin ulcer, Dry skin, Skin rash ORPHA:2584
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Thrombocytosis, Chronic diarrhea, O... OMIM:619652
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Costello Syndrome
Redundant skin, Lack of skin elasticity ORPHA:3071
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Immunodeficiency 50
Eczema OMIM:300988
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Coarctation of aorta, Transposition of the great arteries, Patent ductus arteriosus, Truncus arte... OMIM:612474
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Skeletal muscle atrophy, Pulmonary artery... ORPHA:558
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule, Myeloid leukemia ORPHA:48104
Chronic Actinic Dermatitis
Pruritus, Eczema, Erythroderma, Allergic rhinitis, Late onset atopic dermatitis ORPHA:330064
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Erythema Elevatum Diutinum
Skin vesicle, Skin rash ORPHA:90000
Cutaneous Collagenous Vasculopathy
Erythema, Petechiae, Pruritus, Skin rash ORPHA:280779
Marfan Syndrome
Flexion contracture, Mitral regurgitation, Aortic regurgitation, Aortic root aneurysm, Congestive... OMIM:154700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Cryoglobulinemic Vasculitis
Viral hepatitis, Petechiae, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, ... ORPHA:91138
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Bloody diarrhea, Leukocytosis, Colonic stenosis, Peritoni... ORPHA:90038
Buerger Disease
Skin ulcer, Vasculitis ORPHA:36258
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent pneumonia, Cutaneous abscess, Erythema, Chronic mucocutaneous candidiasis, Eczematoid d... OMIM:147060
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Histiocytosis, Absent natural killer cells, Increased T cell count... ORPHA:2442
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Hyperperistalsis, Pulmonary arterial hyperten... OMIM:613834
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Loeys-Dietz Syndrome 5
Scapular winging, Aortic root aneurysm, Flexion contracture of toe, Mitral regurgitation, Decreas... OMIM:615582
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin OMIM:113800
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent sinusitis, Pyoderma gan... OMIM:616576
Aicardi-Goutieres Syndrome 5
Chilblains, Scaling skin, Dry skin OMIM:612952
Reticular Dysgenesis
Recurrent respiratory infections, Skin ulcer, Malabsorption ORPHA:33355
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Mitral regurgitation, Patent ductus arteriosus, Aortic regurgitat... ORPHA:3092
Limited Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Skin ulcer, Dysphagia, Pulmonary fibrosis ORPHA:220402
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Pyelonephritis, Cutis laxa, Redundant skin, Lack of skin elasticity ORPHA:90349
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Skin ulcer OMIM:604571
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus OMIM:177000
Immunodeficiency 58
Recurrent pneumonia, Helicobacter pylori infection, Cutaneous abscess, Colitis, Chronic diarrhea,... OMIM:618131
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis, Pallor, Skin ... ORPHA:848
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent respiratory infections, Recurrent sinusitis, Skin ulcer, Anal canal squamous... ORPHA:217390
Infantile Myofibromatosis
Tracheoesophageal fistula, Neoplasm of the lung, Abnormal intestine morphology, Skin ulcer, Intes... ORPHA:2591
Ulerythema Ophryogenesis
Acne, Contact dermatitis, Dry skin, Facial erythema ORPHA:3406
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Decreased liver function, Coarctation of ao... OMIM:614300
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Medial calcification of large arteries, Left ventricular syst... ORPHA:51608
Pemphigus Foliaceus
Pruritus, Erythema, Erythroderma, Scaling skin, Psoriasiform dermatitis, Pustule, Crusting erythe... ORPHA:79481
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Patent ductus arteriosus, Atrial arrhythmia, Coarctation of ... ORPHA:1330
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Congestive heart failure, Pulmonic stenosis, Flexion contracture of toe... OMIM:608328
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections ORPHA:79503
Bullous Pemphigoid
Eczema, Erythema, Psoriasiform dermatitis ORPHA:703
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Pulmonary artery aneurysm, Descending thoracic ao... OMIM:609192
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pruritus, Pustule ORPHA:2897
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Otitis media, Skin ulcer, Recurrent cu... ORPHA:229717
Autoimmune Lymphoproliferative Syndrome
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:3261
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Premat... ORPHA:101028
Trichohepatoenteric Syndrome 2
Colitis, Hepatitis, Diarrhea, Villous atrophy OMIM:614602
Baralle-Macken Syndrome
Striae distensae OMIM:619255
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Infectious encephalitis, Maculopapular exanthema, Colitis, Splenomegaly, Decrea... ORPHA:540
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Inflammation of the large intestine, Anemia, Osteomyelitis, Psoriasiform dermatitis, Poor a... ORPHA:324964
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perianal erythema, Perioral erythema, Erythroderma, Pustule OMIM:614328
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Psoriasiform lesion, Scaling s... ORPHA:284426
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Gastrointestinal hemorrhage, Glomerulonephritis, Splenom... ORPHA:2137
Werner Syndrome
Lipodystrophy, Skin ulcer, Lack of skin elasticity, Lipoatrophy ORPHA:902
Sweet Syndrome
Sterile abscess, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute myeloid leukemia, Acne... ORPHA:3243
Autosomal Erythropoietic Protoporphyria
Eczema, Erythema, Pruritus ORPHA:79278
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Anemia, Hepatitis, Villous atrophy, Diarrhea, Reduced natural killer cell... OMIM:619381
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, Abnormal aort... ORPHA:3405
Chronic Granulomatous Disease
Tracheoesophageal fistula, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Malabsor... ORPHA:379
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormality of the gastrointestinal tract ORPHA:2028
Osteogenesis Imperfecta
Flexion contracture, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Arterial diss... ORPHA:666
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Congenital ... ORPHA:1166
Dermatitis Herpetiformis
Eczema, Erythema, Skin vesicle, Pruritus ORPHA:1656
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Ventricular tachycardia, Pulmonary artery... OMIM:613426
Necrobiosis Lipoidica
Skin ulcer, Erythema, Inflammatory abnormality of the skin ORPHA:542592
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Pulmonary artery aneurysm, Aortic dissec... ORPHA:286
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Cystic acne, Pyoderma gangrenosum, Panniculitis OMIM:608068
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Pellagra-Like Syndrome
Skin rash OMIM:260650
Methylmalonic Acidemia With Homocystinuria
Skin rash ORPHA:26
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Wiskott-Aldrich Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Autoimmune hemolytic anemia, Absent mi... OMIM:301000
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Skin ulcer, Purpura ORPHA:743
Idiopathic Non-Lupus Full-House Nephropathy
Glomerulonephritis, Synovitis, Serositis, Arthritis, Skin rash ORPHA:567544
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Cutaneous abscess, Pustule, Ulcerative colitis ORPHA:555905
Aorta Coarctation
Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Coronary artery atherosc... ORPHA:1457
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Dry skin OMIM:612947
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Neu-Laxova Syndrome
Lack of skin elasticity ORPHA:2671
Adenocarcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Neoplasm of the lu... ORPHA:424016
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Myocardial infarction, Aortic dissection, Coarctation of aorta, Arterial di... ORPHA:99226
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Infectious encephalitis, Autoimmune thrombocytopenia, Autoimmune hemolytic an... ORPHA:391487
Lichen Planopilaris
Skin ulcer, Hepatitis, Abnormal intestine morphology ORPHA:525
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
X-Linked Agammaglobulinemia
Recurrent pneumonia, Skin ulcer, Glossoptosis, Malabsorption, Hepatitis, Abnormal lung morphology ORPHA:47
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Reynolds Syndrome
Gastroesophageal reflux, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Dysphagia, C... ORPHA:779
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Coarctation of aorta, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618164
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, High, narrow palate, Ventricular septal defect, Truncus arteriosus, A... ORPHA:2516
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Hyperte... ORPHA:391665
Cardiac Diverticulum
Pulmonary artery hypoplasia, Premature ventricular contraction, Diastasis recti, Mitral stenosis,... ORPHA:1686
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Inflammatory abnormality of the skin ORPHA:277
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Pneumonia, Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocy... OMIM:600903
Sepsis In Premature Infants
Leukocytosis, Gastrointestinal dysmotility, Splenomegaly, Decreased liver function, Neutropenia, ... ORPHA:90051
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, V... OMIM:130050
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Scaling skin, Pruritus ORPHA:90368
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Pustule OMIM:616069
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Blepharitis, Dry skin, Facial erythema, Keratitis, Conjunctivitis, Folliculitis OMIM:308800
Juvenile Arthritis
Skin rash OMIM:618795
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema OMIM:615895
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Erythema, Pruritus, Pustule ORPHA:48377
Erythrokeratodermia Variabilis
Erythema, Dry skin, Skin rash ORPHA:317
Spontaneous Periodic Hypothermia
Pallor, Skin rash ORPHA:29822
Prolidase Deficiency
High palate, Recurrent pneumonia, Petechiae, Elevated circulating aspartate aminotransferase conc... OMIM:170100
Meacham Syndrome
Tetralogy of Fallot, Stillbirth, Patent ductus arteriosus, Accessory spleen, Atrial septal defect... OMIM:608978
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Eczema, Dry skin OMIM:261600
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Cirrhosis, Decreased liver function... ORPHA:231222
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Bloody diarrhea, Leukocytosis, Thrombocytosis, Pancolitis, Eosinophilic infil... OMIM:618213
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Dysphagia, Inflammatory abnormality... ORPHA:3260
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Neoplasm of the gastrointestinal tract, Myositis, Leukemia, Glomerulonephritis, Imbalanced hemogl... ORPHA:99867
Aortic Arch Interruption
Truncus arteriosus, Aortic regurgitation, Patent ductus arteriosus, Aortopulmonary window, Conges... ORPHA:2299
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Intestinal malrotation, Hypoplastic left heart, Bilateral cleft lip and... ORPHA:2001
Toxic Epidermal Necrolysis
Abnormal myocardium morphology, Intestinal perforation, Gastrointestinal hemorrhage, Erythema, Ab... ORPHA:537
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash ORPHA:1658
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Skin rash, Erythema nodosum, Recurrent aphthous stomatitis OMIM:611762
Arterial Tortuosity Syndrome
Flexion contracture, Aortic regurgitation, Generalized arterial tortuosity, Telangiectases of the... OMIM:208050
Methimazole Embryofetopathy
Tracheoesophageal fistula, Coarctation of aorta, Esophageal atresia, Ventricular septal defect, A... ORPHA:1923
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash OMIM:609628
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Bloody diarrhea, Leukocytosis, Pneumonia, Abdominal cramps, Intus... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Chronic diarrhea, Inflammation of the large intestine, Esophageal var... OMIM:614576
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Bronchiectasis, Osteomyelitis, Hepatitis, Chroni... ORPHA:33110
Bone Marrow Failure Syndrome 4
Eczema, Dry skin OMIM:618116
Psoriasis 14, Pustular
Cholangitis, Erythema, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Abdominal distention, Abdomin... ORPHA:309031
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Bronchiectasis, Intestinal atresia, Dy... OMIM:619708
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Anemia, Hematemesis, Episodic vomit... ORPHA:71272
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis OMIM:617443
Sapho Syndrome
Recurrent skin infections, Chronic diarrhea, Acne, Inflammation of the large intestine, Abdominal... ORPHA:793
Immunodeficiency 49
Inflammatory abnormality of the skin, Cutis laxa OMIM:617237
Systemic Sclerosis
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:90291
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus ORPHA:2248
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Prominent... ORPHA:363705
Immunodeficiency 31C
Eczema, Chronic mucocutaneous candidiasis OMIM:614162
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, First degree atrioventricular block, At... ORPHA:392
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Erythema, Myocarditis, Tubulointerstitial neph... ORPHA:139402
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Hyperlipoproteinemia, Type Id
Colitis, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Flynn-Aird Syndrome
Skin ulcer, Atherosclerosis ORPHA:2047
Graft Versus Host Disease
Lipodystrophy, Myositis, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormality of th... ORPHA:39812
Diffuse Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Malabsorption, Dysphagia, Pulmonary fibrosis, Skin ulcer, Xerostomia ORPHA:220393
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Eczema, Recurrent sinusitis, Atopic ... OMIM:243700
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Blepharitis, Facial erythema, Keratitis, Conjunctivitis, Folliculitis OMIM:612843
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne OMIM:612847
Geleophysic Dysplasia 1
Lack of skin elasticity OMIM:231050
Syndromic Diarrhea
Intractable diarrhea, Hepatoblastoma, Bloody diarrhea, Thrombocytosis, Colitis, Splenomegaly, Vil... ORPHA:84064
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Recurrent otitis media, Bronchiectasis, Eczema OMIM:618523
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Skin ulcer, Splenomegaly, Hepatomegaly ORPHA:834
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Flexion contracture, Hypertension, Generalized limb muscle atrophy ORPHA:1306
Familial Multiple Nevi Flammei
Venous insufficiency, Skin ulcer, Arteriovenous malformation ORPHA:624
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Abnormality of the pulmonary artery, Ventricula... ORPHA:1926
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers, Gastroesophageal reflux ORPHA:36386
Bazex Syndrome
Eczema, Acne inversa, Atopic dermatitis OMIM:301845
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Decreas... OMIM:606003
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Otitis media... ORPHA:3392
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:203300
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Cutis laxa OMIM:619691
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Recurrent pneumonia, Pneumonia, Skin rash OMIM:300400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Peritonitis, Erythema, Pancreatitis, Vasculitis, Pericarditis, Gastr... ORPHA:727
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Arthritis, Conjunctivitis, Skin rash OMIM:120100
Uremic Pruritus
Pruritus, Recurrent skin infections, Dry skin, Inflammatory abnormality of the skin ORPHA:94059
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa OMIM:612379
Double Outlet Right Ventricle
Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmonic stenosis, Su... ORPHA:3426
Indolent Systemic Mastocytosis
Maculopapular exanthema, Pruritus, Skin rash ORPHA:98848
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Kindler Epidermolysis Bullosa
Recurrent skin infections, Colitis, Periodontitis, Inflammation of the large intestine, Anemia, E... ORPHA:2908
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:270100
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis OMIM:618985
Immunodeficiency 81
Petechiae, Recurrent cutaneous abscess formation, Skin rash OMIM:619374
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hematemesis, Ventricular sept... OMIM:301068
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Cardiomyopathy, Coarctation of abdominal aorta OMIM:226100
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Stomatitis ORPHA:293812
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Chronic hepatitis, Splenomegaly, Jaundice,... ORPHA:231226
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Arteritis, Inflammatory abnormality o... OMIM:301054
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Skin ulcer, Abnormality of the submandibular glands, Abnormality of the ... ORPHA:79493
Schnitzler Syndrome
Pruritus, Arthritis, Skin rash ORPHA:37748
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Preductal c... ORPHA:141127
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Patent ductus arteriosus, Congest... ORPHA:980
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Skin rash OMIM:142680
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Familial Male-Limited Precocious Puberty
Acne ORPHA:3000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Pyoderma gangrenosum, Recurrent pneumonia, Bronchiectasis OMIM:150550
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Hashimoto thyroiditis, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Ski... ORPHA:275
Atypical Werner Syndrome
Skin ulcer, Generalized lipodystrophy, Lack of skin elasticity, Lipoatrophy ORPHA:79474
Eczema, Osteoarthritis, Arthritis ORPHA:1525
Ollier Disease
Skin ulcer ORPHA:296
Adult-Onset Still Disease
Pruritus, Erythema, Myocarditis, Hepatitis, Pericarditis, Arthritis, Skin rash ORPHA:829
Congenital Factor Xiii Deficiency
Hepatic failure, Myeloid leukemia, Inflammation of the large intestine ORPHA:331
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Recurrent respiratory infections, Cleft palate, Skin ulcer, Vascular dilatation ORPHA:2314
Fryns Syndrome
High palate, Tetralogy of Fallot, Ectopic anus, Abnormal aortic arch morphology, Intestinal malro... ORPHA:2059
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:601186
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Erythema, Recurrent respiratory infections, Hepatitis, Skin ulcer ORPHA:1334
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Ecchymosis, Gastric ulcer, Bacterial endocarditis, Splenomega... ORPHA:2072
Amyloidosis, Familial Visceral
Skin rash OMIM:105200
Esophageal Atresia
Pulmonary hypoplasia, Tetralogy of Fallot, Morphological abnormality of the gastrointestinal trac... ORPHA:1199
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Blepharitis, Erythema, Scaling skin, Psoriasiform dermatitis... ORPHA:294023
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Erythema, Cardiomyopathy, Pulmonary fibrosis, Dysphagia, Pericarditi... ORPHA:93672
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Behcet Syndrome
Erythema nodosum, Iritis, Erythema, Iridocyclitis, Epididymitis, Arthritis OMIM:109650
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Absence of subcutaneous fat, Premature skin wrinkling, Lack of skin elasticity ORPHA:740
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Skin rash ORPHA:90036
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased fecal calprotect... OMIM:619573
Skin ulcer, Arterial calcification ORPHA:280062
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Prolidase Deficiency
Erythema, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Skin ulcer, Dry skin ORPHA:742
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Pall... ORPHA:231214
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis OMIM:616559
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Acne, Dorsocervical fat pad, Striae distensae ORPHA:189427
Majeed Syndrome
Acne, Osteomyelitis, Synovitis, Pustule, Inflammatory abnormality of the skin, Abnormal inflammat... ORPHA:77297
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Eczema, Synovitis, Nongranulomatous uveitis, Pericarditis, Ski... OMIM:186580
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Recurrent pneumonia, Recurrent skin infections, Cutaneous abscess, Bronchiectasis, Atopic dermatitis OMIM:619752
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash OMIM:618048
Attenuated Ch├ędiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Primary Pigmented Nodular Adrenocortical Disease
Abnormal subcutaneous fat tissue distribution, Acne, Dorsocervical fat pad, Striae distensae ORPHA:189439
Psoriasis-Related Juvenile Idiopathic Arthritis
Pruritus, Uveitis, Iritis, Psoriasiform lesion, Sacroiliac arthritis, Iridocyclitis, Oligoarthrit... ORPHA:85436
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Dry skin, Cutis laxa ORPHA:2269
Parkes Weber Syndrome
Arteriovenous fistula, Vascular tortuosity, Peripheral arteriovenous fistula, Cerebral arterioven... ORPHA:90307
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Gastrointestinal infarc... ORPHA:464343
Pseudopelade Of Brocq
Cheilitis, Recurrent skin infections ORPHA:129
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Pituitary Adenoma 4, Acth-Secreting
Purpura, Ecchymosis, Facial erythema, Striae distensae OMIM:219090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Rena... OMIM:615688
Immunodeficiency 69
Skin rash OMIM:618963
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Periodontitis, Protuberant abdomen, Abnormal myeloid leukocyte morphology, I... ORPHA:79259
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas OMIM:615704
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Hip osteoarthritis, Striae distensae OMIM:619656
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Peritonitis OMIM:134610
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Anterior uveitis, Skin rash, Pericarditis ORPHA:85414
8P23.1 Microdeletion Syndrome
High palate, Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypert... ORPHA:251071
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Erythema, Neoplasm of the lung ORPHA:659
Pili Torti-Onychodysplasia Syndrome
Eczema, Dry skin ORPHA:2890
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Bifid uvula, Elevated circulating alanine aminotransfe... OMIM:614921
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Superficial dermal perivascular inflammatory infiltrate, P... ORPHA:535
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Van Den Bosch Syndrome
Recurrent skin infections ORPHA:3417
Cholestasis-Lymphedema Syndrome
Erysipelas OMIM:214900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Arthritis, Bronchiectasis, Eczema, Psoriasiform dermatitis, Atrophic gastritis OMIM:616100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Septic arthritis OMIM:617780
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Ecchymosis, Pneumonia, Infectious encephalitis, P... ORPHA:36234
Hypersensitivity pneumonitis, Abnormality of the liver, Pneumonia, Lung abscess, Peritonitis, Ple... ORPHA:228119
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Interface hepatitis, Inflammation of the large intestine, Granuloma, Gran... ORPHA:562639
Estrogen Resistance
Acne OMIM:615363
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema OMIM:616871
American Trypanosomiasis
Pallor, Infectious encephalitis, Myocarditis, Skin rash ORPHA:3386
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Hyperextensible skin OMIM:615355
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Netherton Syndrome
Eczema, Erythroderma, Dry skin, Skin rash ORPHA:634
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae OMIM:610475
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura, Skin rash ORPHA:49566
Acrodermatitis Enteropathica
Erythema, Furrowed tongue, Malabsorption, Skin ulcer, Dry skin, Glossitis ORPHA:37
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin ORPHA:486815
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Erythema, Pustular rash, Malar rash, Pustule, Skin rash OMIM:615934
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Dyskeratosis Congenita
Oral leukoplakia, Hepatic failure, Cirrhosis, Tracheoesophageal fistula, Splenomegaly, Hepatomega... ORPHA:1775
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Septic arthritis OMIM:612260
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Rhinitis, Pyo... ORPHA:486
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Atrial septal defect, Intestinal malrotation, Anal atresia, Coarctation of aorta, Pn... OMIM:617602
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Gastrointestinal stroma tumor, Erythema, Lung adenocarcinoma, Myocarditis, Recurrent respiratory ... ORPHA:221
Infantile Systemic Hyalinosis
Skin ulcer, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea ORPHA:2176
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Tracheoesophageal fistula, Esophageal atresia, Coarctation of aorta, Ve... OMIM:300514
Bloody diarrhea, Lymphadenitis, Erythema nodosum, Arthritis, Inflammatory abnormality of the eye,... ORPHA:707
Meige Disease
Skin ulcer, Varicose veins, Pleural effusion ORPHA:90186
Livedoid Vasculopathy
Macular purpura, Ecchymosis, Abnormal capillary morphology, Venous insufficiency, Skin ulcer, Var... ORPHA:542643
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Hyperextensible skin, Soft, doughy skin, Striae distensae, Soft skin OMIM:619329
Inflammatory abnormality of the skin, Redundant neck skin ORPHA:79332
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Thyroiditis, Erythroderma, Scaling skin, Psoriasiform dermatitis, Chronic oral candidiasis OMIM:606367
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis ORPHA:158673
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Recurrent pneumonia, Pneumonia, Cholangitis, Cholecystit... ORPHA:183675
Boutonneuse Fever
Maculopapular exanthema, Petechiae, Skin rash ORPHA:83313
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Cinca Syndrome
Uveitis, Arthritis, Skin rash OMIM:607115
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Pancreatitis, Recurrent respira... ORPHA:900
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Redundant skin, Lipoatrophy, Cutis laxa ORPHA:2963
Urinary bladder inflammation, Pruritus, Orchitis, Inflammatory abnormality of the skin, Skin ulce... ORPHA:556
Blue Rubber Bleb Nevus
Skin rash ORPHA:1059
Adiposis Dolorosa
Recurrent skin infections, Dry skin, Arthritis ORPHA:36397
Leukocyte Adhesion Deficiency, Type Iii