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
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... OMIM:135580
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Anemia, Leukocytosis OMIM:619398
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wi... OMIM:617006
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 76
B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lympho... OMIM:619164
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Descending aortic dissection... OMIM:620080
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Chilblain Lupus 2
Chilblains OMIM:614415
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Mucoid diarrhea, Abnormal... OMIM:615767
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st... OMIM:614823
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Aor... ORPHA:91387
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Inflammation of the large intesti... OMIM:619281
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus ORPHA:345
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
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
Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammat... OMIM:618108
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Pruritus on foot, Palmar pruritus, Eczematoid dermatitis, Palmoplantar erythema,... ORPHA:64745
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
Pressure-Induced Localized Lipoatrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Inflammatory abnor... ORPHA:90160
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess, Pyoderma gangrenosum OMIM:619986
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophili... OMIM:617638
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the large intestin... OMIM:300635
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Aorto-v... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic di... OMIM:619825
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Immunodeficiency 70
B lymphocytopenia, Furuncle, Recurrent sinusitis, Decreased proportion of CD4-positive helper T c... OMIM:618969
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Huriez Syndrome
Lack of skin elasticity, Dry skin ORPHA:384
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis ORPHA:228240
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop... OMIM:618806
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Dermatitis, Atopic
Facial erythema, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Re... OMIM:603165
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Lamellar Ichthyosis
Chronic otitis media, Dry skin, Lack of skin elasticity, Erythroderma, Pruritus ORPHA:313
Ehlers-Danlos Syndrome, Hypermobility Type
Osteoarthritis, Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... OMIM:175050
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis OMIM:146700
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Congenital Heart Defects, Multiple Types, 4
Left ventricular outflow tract obstruction, Coarctation of aorta, Tetralogy of Fallot, Aortic val... OMIM:615779
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Chronic diarrhea, Crohn's disease, Splenomegaly, Bronchie... OMIM:618394
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic arch aneurysm, Aortic valve stenosis, Coarctation of a... ORPHA:402075
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
Idiopathic Localized Lipodystrophy
Scaling skin, Lipoatrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Infl... ORPHA:90158
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Inflammatory abnor... ORPHA:90159
Immunodeficiency 53
Recurrent pneumonia, Skin rash, Recurrent otitis media OMIM:617585
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Myocarditis, Congestive heart failure, Vascular dilatation, A... ORPHA:3342
Classic Phenylketonuria
Lack of skin elasticity, Eczematoid dermatitis ORPHA:79254
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Immunodeficiency 116
Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczematoid dermatitis OMIM:614493
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Abd... OMIM:301074
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Antisynthetase Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Lack of skin elasticity, Pruritus, Keratoconjunctivi... ORPHA:81
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly... OMIM:613101
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Giant Cell Arteritis
Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Elbow flexion contracture, EMG: m... ORPHA:1900
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Ulerythema Ophryogenesis
Facial erythema, Dry skin, Contact dermatitis, Acne ORPHA:3406
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Acne inversa OMIM:613736
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Pseudoxanthoma Elasticum
Hyperextensible skin, Excessive wrinkled skin, Skin rash, Lack of skin elasticity, Acne, Multiple... ORPHA:758
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly... OMIM:616050
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity ORPHA:1366
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Skin ulcer, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the r... ORPHA:424019
Chilblain Lupus
Skin ulcer, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abnormality of the skin, Prur... ORPHA:90280
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Panniculitis, Cystic acne, Erythema, Acne inversa OMIM:608068
Stiff Skin Syndrome
Lipoatrophy, Lack of skin elasticity ORPHA:2833
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Pruritus ORPHA:231
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis, Decreased proportion of class-switch... OMIM:614878
Centrifugal Lipodystrophy
Scaling skin, Lipoatrophy, Lymphadenitis, Lack of facial subcutaneous fat, Reduced subcutaneous a... ORPHA:90156
Loeys-Dietz Syndrome 4
Arterial tortuosity, Torticollis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic ... OMIM:614816
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis, Soft skin, Hyperextensible skin, Soft, doughy skin OMIM:130010
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipoatrophy, Reduced subcutaneous adipose tissue, Lack of skin elasticity, Lipodystrophy ORPHA:1979
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Leukopenia, Colitis OMIM:615190
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Eczematoid dermatit... OMIM:269840
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Increased T cell count, Consti... ORPHA:263665
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... OMIM:618780
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Aortic dissection, Pulmonic stenosis, Varicose veins OMIM:618343
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lack of skin elasticity, Lipodystrophy OMIM:615381
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancy... OMIM:614700
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... OMIM:618935
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... OMIM:608971
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Elastosis Perforans Serpiginosa
Cutis laxa, Crusting erythematous dermatitis ORPHA:79148
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Oral leukoplaki... OMIM:620133
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema, Eczematoid dermatitis ORPHA:263534
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis OMIM:254400
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Lymphopenia, Tooth abscess, Sinusitis, Enterocol... ORPHA:2686
Congenital Factor Xii Deficiency
Retinal arteriolar occlusion, Penetrating foot ulcers ORPHA:330
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Erythema ORPHA:79099
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Restrictive car... OMIM:612422
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Excessive wrinkled skin, Lack of skin elasticity OMIM:612940
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Croh... ORPHA:436159
Leri Pleonosteosis
Lack of skin elasticity ORPHA:2900
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Abdominal pain, Diarr... ORPHA:67
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Hyperextensible skin, Striae distensae OMIM:225310
Acquired Ichthyosis
Recurrent skin infections, Dry skin, Erythema, Pruritus ORPHA:454
Loeys-Dietz Syndrome
Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Cardiac arrest, Arterial dissection, A... ORPHA:60030
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Takayasu Arteritis
Abnormal endocardium morphology, Gastrointestinal infarctions, Abnormal aortic valve morphology, ... ORPHA:3287
Marfan Syndrome
Congestive heart failure, Abnormal left ventricular function, Dilatation of an abdominal artery, ... ORPHA:558
Polyarteritis Nodosa
Skin ulcer, Abnormality of the gastrointestinal tract, Pleuritis, Cardiomyopathy, Abnormal lung m... ORPHA:767
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Dry skin, At... OMIM:618282
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eos... OMIM:618999
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal... OMIM:601612
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Increased B cell cou... ORPHA:98813
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabs... OMIM:209920
Aneurysm-Osteoarthritis Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Patent ductus arteriosus, Arterial tortuo... ORPHA:284984
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arte... OMIM:610168
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Purpura, Erythema, Skin rash ORPHA:889
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Camptodactyly,... OMIM:300989
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on intravenous n... ORPHA:37042
Papa Syndrome
Skin ulcer, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response ORPHA:69126
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal aortic arch morphology, Hypoplastic aort... ORPHA:860
Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic abscess, Nausea, Abdominal cramps... ORPHA:810
Werner Syndrome
Lipoatrophy, Skin ulcer, Lack of skin elasticity, Lipodystrophy ORPHA:902
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Costello Syndrome
Redundant skin, Lack of skin elasticity ORPHA:3071
Loeys-Dietz Syndrome 3
Dilatation of the cerebral artery, Arterial tortuosity, Aortic regurgitation, Aortic aneurysm, At... OMIM:613795
Immunodeficiency 50
Eczematoid dermatitis OMIM:300988
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Lymph... OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Classic Mycosis Fungoides
Skin ulcer, Skin rash, Dry skin, Eczematoid dermatitis, Pruritus, Erythema ORPHA:2584
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Peeling Skin Syndrome 6
Scaling skin, Pruritus, Dry skin, Atopic dermatitis OMIM:618084
Cutaneous Collagenous Vasculopathy
Petechiae, Skin rash, Pruritus, Erythema ORPHA:280779
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Marfan Syndrome
Congestive heart failure, Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta ane... OMIM:154700
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus ORPHA:330064
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Recurrent otitis media, Cutaneous abscess, Atopic dermatitis OMIM:618944
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Erythema Elevatum Diutinum
Skin vesicle, Skin rash ORPHA:90000
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema ORPHA:2337
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Purpura, Hepatomegaly, Skin ulcer, Gastrointestinal hemorrhage, Pet... ORPHA:91138
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension OMIM:616069
C1Q Deficiency 2
Facial erythema, Recurrent otitis media, Malar rash, Arthritis, Discoid lupus rash, Chilblains, B... OMIM:620321
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Inflammation of the la... OMIM:617718
Pyoderma Gangrenosum
Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myeloid leukemia ORPHA:48104
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Abnormal heart morphology, Interrupted inferior vena ... ORPHA:185
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
Sweet Syndrome
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... ORPHA:3243
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Patent ductus arteriosus, Aortic regurg... ORPHA:3092
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Aortic root aneurysm, Scapular winging, Congenital finger flexion con... OMIM:615582
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Generalized lipodystrophy, Panniculitis, Erythema OMIM:619183
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia, Gastroesophageal reflux, Pulmonary fibrosis ORPHA:220402
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent sinusitis, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... OMIM:616576
Bare Lymphocyte Syndrome, Type I
Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis OMIM:604571
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Recurrent sinusitis, Pneumonia, Recurrent respiratory infections, Anal canal squamous... ORPHA:217390
Epidermolytic Hyperkeratosis 1
Scaling skin, Erythroderma OMIM:113800
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Left ventricular systolic dysfunction, Stroke, Hypertension, Transien... ORPHA:51608
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ... OMIM:619381
Hepatomegaly, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepa... ORPHA:848
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Chronic diarrhea, Seborrheic dermatitis, Chr... OMIM:618131
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Panniculitis ORPHA:86884
Infantile Myofibromatosis
Intestinal obstruction, Neoplasm of the pancreas, Skin ulcer, Abnormal intestine morphology, Neop... ORPHA:2591
Pemphigus Foliaceus
Scaling skin, Pustule, Pruritus, Erythroderma, Skin vesicle, Psoriasiform dermatitis, Crusting er... ORPHA:79481
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Autosomal Recessive Cutis Laxa Type 1
Redundant skin, Cutis laxa, Recurrent pneumonia, Lack of skin elasticity, Pyelonephritis ORPHA:90349
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Syncope, Transient ischemic attack, Atrial arrhythmia, Aortic va... ORPHA:1330
Transaldolase Deficiency
Cirrhosis, Premature skin wrinkling, Coarctation of aorta, Hepatosplenomegaly, Atrial septal defe... ORPHA:101028
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczematoid dermatitis OMIM:177000
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Purpura, Skin ulcer, Venous insufficiency ORPHA:743
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Aorta Coarctation
Congestive heart failure, Hypoplastic aortic arch, Coarctation of the descending aortic arch, Cor... ORPHA:1457
Pityriasis Rubra Pilaris
Erythroderma, Pustule, Pruritus, Eczematoid dermatitis ORPHA:2897
Baralle-Macken Syndrome
Striae distensae OMIM:619255
Nodular Non-Suppurative Panniculitis
Panniculitis, Erythema, Inflammatory abnormality of the eye ORPHA:33577
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Anemia, Hemophagocytosis, Skin rash, Colitis, Thrombocytopenia, Splenom... ORPHA:540
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... ORPHA:2137
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otit... ORPHA:229717
Buerger Disease
Vasculitis, Skin ulcer ORPHA:36258
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Splenomegaly, Lymphopenia, Recurrent apht... ORPHA:3261
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Perianal erythema, Blepharitis, Pustule, Erythroderma OMIM:614328
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ... ORPHA:3405
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormality of the gastrointestinal tract ORPHA:2028
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Predo... ORPHA:284426
Iga Pemphigus
Eosinophilia, Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Porphyria Cutanea Tarda, Type I
Eczematoid dermatitis OMIM:176090
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains OMIM:612952
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Recurrent otitis media, Impaired lymphocyte transformat... OMIM:301000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Poor ... ORPHA:324964
Skin ulcer, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis... ORPHA:228119
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Osteogenesis Imperfecta
Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Arterial dissection, Aortic dissecti... ORPHA:666
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Congenital diaphragmatic hernia,... ORPHA:1166
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Aortic arch aneurysm, Arterial dissection, Aortic dissection... ORPHA:99226
16P13.11 Microduplication Syndrome
Coarctation of aorta, Transposition of the great arteries, Tetralogy of Fallot ORPHA:261243
Lichen Planopilaris
Abnormal intestine morphology, Skin ulcer, Hepatitis ORPHA:525
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Eczematoid dermatitis ORPHA:79278
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Leukocytosis, Eosinophilic in... OMIM:618213
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Arteriovenous fistulas of celiac... ORPHA:286
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Petechiae, High palate, Prolonged neonatal jaundice, Recurrent pneumoni... OMIM:170100
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Immunodeficiency 114, Folate-Responsive
Splenomegaly, Hepatomegaly, Recurrent lower respiratory tract infections, Skin ulcer OMIM:620603
Necrobiosis Lipoidica
Skin ulcer, Inflammatory abnormality of the skin, Erythema ORPHA:542592
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Dry skin, Pruritus, Eczematoid dermatitis OMIM:618535
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Skin ulcer ORPHA:834
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Skin rash, Synovitis, Serositis, Glomerulonephritis ORPHA:567544
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Diarrhea, B lymphocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Bullous Pemphigoid
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis ORPHA:703
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Lipodystrophy, Conjunctivitis OMIM:617591
Reynolds Syndrome
Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa m... ORPHA:779
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Optic neuritis, Anterior uveitis, Panuveitis, Osteomyelitis OMIM:301081
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Skin ulcer, Anal stenosis, Neoplasm of the rectum, Neoplasm of the lung, Anal ca... ORPHA:424016
Neu-Laxova Syndrome
Lack of skin elasticity ORPHA:2671
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Aplasia Cutis Congenita
Skin ulcer, Erythema ORPHA:1114
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Arrhyt... ORPHA:1686
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity ORPHA:90153
Reticular Dysgenesis
Recurrent respiratory infections, Skin ulcer ORPHA:33355
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Anemia, Diarrhea, Functional abnormality of the g... ORPHA:90051
Chronic Granulomatous Disease
Skin ulcer, Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegal... ORPHA:379
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Clef... ORPHA:2516
Rat-Bite Fever
Scaling skin, Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymp... ORPHA:31205
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hepatoce... ORPHA:231222
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Dry skin, Folliculitis, Blepharitis, Keratitis, Conjunctivitis OMIM:308800
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Transposition of the great arteries, Blood pressure subst... ORPHA:2299
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Descending aortic dissection, Ascending aortic dissection, Dilatation of the cerebral... OMIM:130050
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Juvenile Arthritis
Skin rash OMIM:618795
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Skin ulcer, Splenomegaly, ... ORPHA:507
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism... OMIM:306955
Ehlers-Danlos Syndrome, Classic-Like, 1
Soft skin, Hyperextensible skin, Striae distensae OMIM:606408
Meacham Syndrome
Stillbirth, Bicuspid aortic valve, Transposition of the great arteries, Partial anomalous pulmona... OMIM:608978
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Idiopathic Hypereosinophilic Syndrome
Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Abdominal pain, Neutrophilia, Hepatosplen... ORPHA:3260
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Chronic diarrhea, Abdominal pain, Leukocytosis, Lymphadenitis, Eczematoid dermatitis, Inf... OMIM:615895
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Bifid tongue, Patent ... ORPHA:2001
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Pruritus, Erythema ORPHA:48377
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Skin ulcer, Elevated circulating hepatic transaminase concentration,... ORPHA:537
Familial Cold Autoinflammatory Syndrome 2
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis OMIM:611762
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Bone Marrow Failure Syndrome 4
Dry skin, Eczematoid dermatitis OMIM:618116
Aplastic anemia, Myositis, Rheumatoid arthritis, Pure red cell aplasia, Neoplasm of the gastroint... ORPHA:99867
X-Linked Agammaglobulinemia
Skin ulcer, Glossoptosis, Abnormal lung morphology, Recurrent pneumonia, Hepatitis ORPHA:47
Skin ulcer, Excessive wrinkled skin ORPHA:2500
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Striae distensae OMIM:300354
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Panniculitis, Lipodystrophy OMIM:617099
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Sandifer Syndrome
Hematemesis, Anemia, Gastroesophageal reflux, Episodic vomiting, Esophagitis, Feeding difficultie... ORPHA:71272
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ... ORPHA:1923
Familial Multiple Nevi Flammei
Skin ulcer, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency ORPHA:624
Systemic Sclerosis
Myocarditis, Abnormal pulmonary interstitial morphology, Abnormality of the gastrointestinal trac... ORPHA:90291
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Right atrial isomerism, Ascending tubular aorta aneurysm, Total anomalous... OMIM:270100
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunct... ORPHA:293173
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Cutis laxa, Abnormal cerebral vascular morpho... ORPHA:363705
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Dermatitis Herpetiformis
Skin vesicle, Pruritus, Erythema, Eczematoid dermatitis ORPHA:1656
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Sinusitis, Abnormal platelet morphology, Hem... ORPHA:906
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Recurrent otitis media, Inflammatory abnormality of the skin ORPHA:277
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Chronic diarrhea, Esophageal varix, Inflammation of the large intestine, Thrombocyt... OMIM:614576
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilic infiltration of the esophagus, Recurrent skin infections, Atopic dermatitis OMIM:620532
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Tubulointerstitial nephritis, Pustule, Infectious encephalit... ORPHA:139402
Flynn-Aird Syndrome
Skin ulcer, Atherosclerosis ORPHA:2047
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Iron deficiency anemia, Diarrhea, Abdominal pain, Exocrine pan... ORPHA:309031
Immunodeficiency 110 With Lymphoproliferation
Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Dissemin... OMIM:614868
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers, Gastroesophageal reflux ORPHA:36386
Catastrophic Antiphospholipid Syndrome
Myocarditis, Gastrointestinal infarctions, Skin ulcer, Abnormal jugular vein morphology, Retinal ... ORPHA:464343
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Atelectasis, Vascular dilatation, Cleft palate, Skin vesicle, Recurrent respiratory i... ORPHA:2314
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Striae distensae OMIM:610475
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Graft Versus Host Disease
Scaling skin, Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acu... ORPHA:39812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer, Recurrent otitis media, Panniculitis, Arthritis, Skin rash, Eczematoid derma... OMIM:615688
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Diarrhea, Abdominal pain, Arthritis, Increased B cell count, Parotitis, Leukocytosis, Inc... OMIM:620376
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panniculitis, Hepatitis ORPHA:60
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Bronchiectasis, Recurrent pneumonia, Splenomegaly, Pyoderma gangrenosum OMIM:150550
Psoriasis 14, Pustular
Cholangitis, Pustule, Psoriasiform dermatitis, Erythema, Oligoarthritis OMIM:614204
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Lymphopenia, Bronchiectasis... OMIM:619708
Majeed Syndrome
Skin rash, Inflammatory abnormality of the skin, Osteomyelitis OMIM:609628
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Vasculitis, ... ORPHA:727
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri... ORPHA:392
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Bilateral lung agenesis, Hy... OMIM:601186
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Eczematoid dermatitis, Eosinop... OMIM:243700
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Skin ulcer, Saliva... ORPHA:79493
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Cleft palate, Tetralogy of Fallo... ORPHA:1926
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Folliculitis, Blepharitis, Keratitis, Conjunctivitis OMIM:612843
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa, Eczematoid dermatitis OMIM:619691
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Hypoplasia of the thymus, Incr... ORPHA:84064
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Skin ulcer, Recurrent respiratory infections, Hepatitis, Erythema ORPHA:1334
Loeys-Dietz Syndrome 6
Dermal translucency, Arterial tortuosity, Vertebral artery aneurysm, Striae distensae, Ventricula... OMIM:619656
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, P... ORPHA:231226
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Coarctat... ORPHA:1120
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Patent foramen ovale, Hepatic fibrosis, Coarct... OMIM:606003
Fixed Drug Eruption
Stomatitis, Crusting erythematous dermatitis, Erythema ORPHA:293812
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotation, Coarctat... ORPHA:3426
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Dry skin, Splenomegaly, Recurrent respiratory infections, Erythema ORPHA:742
Uremic Pruritus
Recurrent skin infections, Inflammatory abnormality of the skin, Dry skin, Pruritus ORPHA:94059
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis OMIM:618398
Kindler Epidermolysis Bullosa
Cheilitis, Anemia, Periodontitis, Esophagitis, Inflammation of the large intestine, Conjunctiviti... ORPHA:2908
Immunodeficiency 22
Pericarditis, Chronic oral candidiasis, Panniculitis OMIM:615758
Parkes Weber Syndrome
Scaling skin, Spinal arteriovenous malformation, Skin ulcer, Arteriovenous malformation, Venous m... ORPHA:90307
Ollier Disease
Skin ulcer ORPHA:296
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Bronchiti... ORPHA:1199
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Skin rash, Folliculitis, Per... ORPHA:228123
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Necrotizing enterocolitis, Perianal dermatitis, Cle... OMIM:619573
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Chronic mucocutaneous candidiasis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:619752
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Skin ulcer, Vasculitis, Cardiomyopathy, Dry skin, Pericarditis, Dysp... ORPHA:93672
Immunodeficiency 81
Petechiae, Recurrent cutaneous abscess formation, Skin rash OMIM:619374
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Dry skin, Eczematoid dermatitis OMIM:612379
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Pallor ORPHA:822
Geleophysic Dysplasia 1
Lack of skin elasticity OMIM:231050
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Atypical Werner Syndrome
Lipoatrophy, Skin ulcer, Lack of skin elasticity, Generalized lipodystrophy ORPHA:79474
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Duodenal ... ORPHA:141127
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis OMIM:300299
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Skin ulcer, Cholelithiasi... ORPHA:2072
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapular exanthema, Oligoarthritis OMIM:142680
Ectopia Lentis 1, Isolated, Autosomal Dominant
Striae distensae OMIM:129600
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Fryns Syndrome
Aganglionic megacolon, Abnormal aortic arch morphology, Gastroesophageal reflux, Duodenal atresia... ORPHA:2059
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis OMIM:608118
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Hyp... OMIM:208050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Panniculitis, Dry skin, Eczematoid dermatitis ORPHA:508542
Beta-Thalassemia Major
Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Pallor... ORPHA:231214
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Gastroesophageal reflux, Dysphagia, Pulmonary fibrosis, Xerostomia ORPHA:220393
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Cutis laxa, Dry skin ORPHA:2269
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Vexas Syndrome
Nasal chondritis, Arteritis, Arthritis, Inflammatory abnormality of the skin, Chondritis of pinna... OMIM:301054
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Psoriasiform lesion, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesi... ORPHA:85436
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Arterial calcification, Skin ulcer ORPHA:280062
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Recurrent bacterial skin infections, Blepharitis, Pustule, Psoriasiform dermatitis,... ORPHA:294023
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Intracranial hemorrhage, Hepatic failure ORPHA:49566
Hutchinson-Gilford Progeria Syndrome
Absence of subcutaneous fat, Osteoarthritis, Premature skin wrinkling, Lack of skin elasticity ORPHA:740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Anemia, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Chronic neutr... ORPHA:79259
Majeed Syndrome
Acne, Synovitis, Pustule, Inflammatory abnormality of the skin, Abnormal inflammatory response, O... ORPHA:77297
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Ecchymosis, Striae distensae OMIM:219090
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Skin rash ORPHA:90036
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Pseudopelade Of Brocq
Recurrent skin infections, Cheilitis ORPHA:129
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Abnormal elasticity of skin, Dry skin ORPHA:486815
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis ORPHA:85414
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Otitis... ORPHA:275
Redundant neck skin, Inflammatory abnormality of the skin ORPHA:79332
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Striae distensae, Acne ORPHA:189427
Behcet Syndrome
Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum, Erythema OMIM:109650
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczematoid dermatitis OMIM:617443
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Skin ulcer, Anorectal anomaly, Esophageal sten... ORPHA:1775
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Neoplasm of the lung, Erythema ORPHA:659
Acute Radiation Syndrome
Scaling skin, Interstitial pneumonitis, Skin ulcer, Inflammatory abnormality of the skin ORPHA:454831
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Atrioventricular canal defect, Abnormal aortic morphology, H... ORPHA:251071
Blau Syndrome
Iritis, Skin ulcer, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous u... OMIM:186580
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Granuloma, Inflammation of the large intestine, Interface hepatitis, Ulce... ORPHA:562639
Glycogen Storage Disease Ib
Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Splenomegaly, Gout, ... OMIM:232220
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Venous insufficiency, Macular purpura... ORPHA:542643
Bacterial Toxic-Shock Syndrome
Scaling skin, Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Ecchymosis, Sept... ORPHA:36234
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Arthritis, Eczematoid dermatitis, Atrophic gastritis, Bronchiectasis, Psoriasifo... OMIM:616100
Simple Cryoglobulinemia
Purpura, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Acral ulceration... ORPHA:91139
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections,... ORPHA:486
Granulomatosis With Polyangiitis
Intestinal obstruction, Purpura, Skin ulcer, Pancreatitis, Gastrointestinal hemorrhage, Pleuritis... ORPHA:900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, Arthritis, Eczematoid dermatitis, Erythema OMIM:259100
Meige Disease
Varicose veins, Skin ulcer, Pleural effusion ORPHA:90186
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae OMIM:219080
Acquired Generalized Lipodystrophy
Acute pancreatitis, Generalized lipodystrophy, Panniculitis ORPHA:79086
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Hyperextensible skin, Soft skin, Striae distensae, Soft, doughy skin OMIM:619329
Granulomatosis With Polyangiitis
Skin ulcer, Pleuritis, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage fluid neut... OMIM:608710
Mosaic Trisomy 16
Atrial septal defect, Abnormality of the gastrointestinal tract, Meckel diverticulum, Abnormal lu... ORPHA:1708
Skin ulcer, Gastroesophageal reflux, High palate, Esophagitis, Vasculitis in the skin, Recurrent ... ORPHA:443811
Chronic Graft Versus Host Disease
Pneumothorax, Skin ulcer, Elevated circulating hepatic transaminase concentration, Abnormal esoph... ORPHA:99921
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Progeroid Syndrome, Petty Type
Cutis laxa, Lipoatrophy, Redundant skin, Reduced subcutaneous adipose tissue ORPHA:2963
Myocarditis, Abnormal pulmonary interstitial morphology, Facial erythema, Elevated circulating he... ORPHA:221
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Skin ulcer, Panniculitis, Dry skin, Erysipelas ORPHA:2526
Hajdu-Cheney Syndrome
Hepatomegaly, Skin ulcer, Dry skin, Aortic valve stenosis, Intestinal malrotation, Mitral stenosi... ORPHA:955
Skin ulcer, Skin rash, Inflammatory abnormality of the skin, Orchitis, Pruritus, Urinary bladder ... ORPHA:556
Complement Factor I Deficiency
Recurrent otitis media, Recurrent sinusitis, Septic arthritis, Recurrent skin infections, Pyelone... OMIM:610984
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Purpura, Skin ulcer, Arteritis, Chronic active hepati... ORPHA:289390
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Abnormal large intestine physiology, Abdominal pain, T... ORPHA:171
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Kid Syndrome
Scaling skin, Arthritis, Recurrent bacterial skin infections, Folliculitis, Angular cheilitis, Pu... ORPHA:477
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Panniculitis, Parotitis, Episcleritis, Recurrent sinusitis, Adipose tissu... OMIM:256040
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Acral ulceration, Microvesic... OMIM:256810
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atopic dermatitis, ... ORPHA:183675
Acrodermatitis Enteropathica
Skin ulcer, Glossitis, Dry skin, Furrowed tongue, Erythema ORPHA:37
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:1806
Say-Barber-Miller Syndrome
Erythema nodosum, Panniculitis, Eczematoid dermatitis ORPHA:3132
Aicardi-Goutières Syndrome
Lipoatrophy, Panniculitis, Myositis, Arthritis, Dry skin, Chilblains ORPHA:51
Fumarase Deficiency
Polycythemia, Necrotizing enterocolitis, High palate, Hepatic failure OMIM:606812
Macs Syndrome
Hyperextensible skin, Recurrent aphthous stomatitis, Redundant skin, Cutis laxa, Bronchiectasis, ... OMIM:613075
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Infantile Systemic Hyalinosis
Steatorrhea, Skin ulcer, Abnormality of the gastrointestinal tract ORPHA:2176
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae OMIM:610489
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalit... ORPHA:761
Cushing Disease
Purpura, Skin ulcer, Ecchymosis, Acne, Dorsocervical fat pad, Striae distensae, Recurrent cutaneo... ORPHA:96253
T-Cell Immunodeficiency With Thymic Aplasia