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Gene: Zfp36 MGI:99180

Gene Summary

Name:

zinc finger protein 36

Synonyms:

Ttp, Tristetraprolin, Nup475, Tis11, Zfp-36

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased leukocyte cell number	Zfp36^{tm1(KOMP)Vlcg}	HET	Early adult	9.69×10^-05
increased fasting circulating glucose level	Zfp36^{tm1(KOMP)Vlcg}	HET	Early adult	2.21×10^-07
decreased mean corpuscular volume	Zfp36^{tm1(KOMP)Vlcg}	HET	Early adult	5.64×10^-10

Download data as: TSV XLS

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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 Zfp36 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.

Human diseases associated with Zfp36 (0 diseases)
Human diseases predicted to be associated with Zfp36 (1629 diseases)

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

The table below shows human diseases predicted to be associated to Zfp36 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio...	OMIM:604416
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Thrombocythemia 3	Thrombocytosis, Ischemic stroke	OMIM:614521
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality...	ORPHA:47
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ...	OMIM:615592
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest...	ORPHA:75564
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno...	ORPHA:3392
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S...	OMIM:300635
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leuko...	ORPHA:39041
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Short stature, Camptodactyly of finger, Splenomegaly, Vasc...	ORPHA:575
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, L...	OMIM:617591
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc...	OMIM:603554
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen...	OMIM:607594
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Throm...	ORPHA:905
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre...	OMIM:209950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit...	OMIM:607850
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Pruritus, Splenomegaly, Ly...	ORPHA:2584
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to ...	OMIM:616740
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral...	ORPHA:168621
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Va...	ORPHA:37748
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Sézary Syndrome	Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Lymphadenopathy, Nail dystrophy, Erythroderma, Ab...	ORPHA:3162
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cellulitis, Bronchiec...	ORPHA:33110
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Short stature, Leukocytosis, Polyarticular arthriti...	OMIM:191900
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey...	ORPHA:381
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical...	OMIM:142680
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Congenital Atransferrinemia	Arthritis, Hypothyroidism, Anemia, Abnormality of the pancreas	ORPHA:1195
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Short stature, Joint stiffness, Sparse eyebrow, Splenomegaly, Recurrent ...	OMIM:604173
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Vesicoureteral reflux, Hepa...	OMIM:615895
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Clouston Syndrome	Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Autoimmunity, Protrusio acetabuli, Knee osteoarthrit...	ORPHA:2619
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Lymphadenopathy, Hepatosplen...	OMIM:607115
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia	ORPHA:100025
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal...	ORPHA:39812
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infe...	ORPHA:486
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Lymph...	ORPHA:47612
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop...	OMIM:602450
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar...	ORPHA:397596
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alop...	ORPHA:809
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Joint dislocation, Skin rash, Proteinuria, Pruri...	ORPHA:36412
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Severe short stature, Hypoplasia of penis, Long eyebrows, Decrea...	OMIM:275400
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der...	OMIM:603165
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Increased circulating IgA level, Raynaud phenomenon, Pustule, Joint stiffnes...	OMIM:615934
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Zika Virus Disease	Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Thrombocytopenia, Wrist swelling, A...	ORPHA:448237
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Keratitis, Pruritus, Corneal erosion, Erythroderma, Failure to thrive, A...	ORPHA:79394
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll...	OMIM:612843
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro...	OMIM:301080
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarth...	ORPHA:85408
Melioidosis	Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ...	ORPHA:31202
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Increased b...	ORPHA:77297
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Alopecia, Short stature, Conjunctivitis, Elevated gam...	OMIM:242150
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopenia, Erythroder...	OMIM:619510
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo...	OMIM:619644
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis, Decreased proportion of class-switch...	OMIM:613493
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly...	OMIM:253260
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H...	OMIM:269200
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal infl...	OMIM:619858
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep...	ORPHA:1304
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S...	OMIM:613812
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti...	OMIM:612692
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo...	OMIM:240300
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Keratoconjunctivitis, Growth delay, Weight loss, Organic aciduria, Thrombocytop...	ORPHA:79242
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid...	ORPHA:37042
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair	ORPHA:505
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Spl...	ORPHA:91138
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon...	OMIM:615688
Eosinophilopenia	Autoimmunity, Allergic rhinitis	OMIM:131430
Peeling Skin Syndrome 1	Brittle hair, Short stature, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Erythroderma	OMIM:270300
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card...	OMIM:602390
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis...	ORPHA:494424
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Cogan Syndrome	Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,...	ORPHA:1467
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly...	OMIM:263700
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe...	ORPHA:85414
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Th...	ORPHA:540
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Renal insufficiency, Pustule, Overweight, Leukocytosis, Congestive...	ORPHA:247353
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade...	OMIM:615387
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E...	ORPHA:549
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal...	OMIM:607765
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Hypotrichosis 11	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,...	OMIM:615059
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, Coombs-positive...	OMIM:614034
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli...	OMIM:308800
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Myocarditis, Cervical lymphadeno...	ORPHA:2331
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hematuria,...	OMIM:617021
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, ...	ORPHA:79456
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai...	OMIM:614602
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Copper Deficiency, Familial Benign	Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia	OMIM:121270
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia,...	OMIM:615704
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili...	ORPHA:69126
Ichthyosis With Confetti	Short stature, Pruritus, Hypertrichosis, Hypoplastic nipples, Erythroderma, Decreased body weight...	OMIM:609165
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter...	OMIM:307200
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Shigellosis	Uveitis, Hypovolemic shock, Conjunctivitis, Acute colitis, Abscess, Hemolytic-uremic syndrome, Le...	ORPHA:810
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ...	OMIM:226990
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Netherton Syndrome	Sparse scalp hair, Brittle hair, Recurrent skin infections, Eczema, Allergic rhinitis, Brittle sc...	OMIM:256500
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Eng-Strom Syndrome	Arthritis, Short stature, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:1937
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt...	ORPHA:3363
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pruritus, Splenomegaly,...	ORPHA:79301
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva...	OMIM:614480
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Failure to thrive, Absence of lymph node germinal center, Splenom...	OMIM:308230
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Hemochromatosis, Type 3	Cardiomyopathy, Arthritis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ...	ORPHA:2796
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri...	OMIM:619868
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Proteinuria, Elevated circulating aspartate aminotransferase concent...	OMIM:620010
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Short stature, Diabetes mellitus, Abnormal hair m...	ORPHA:317
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,...	ORPHA:90156
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Failure to ...	OMIM:214110
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A...	OMIM:616100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis	ORPHA:36237
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo...	ORPHA:231
Q Fever	Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali...	ORPHA:781
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepat...	OMIM:242700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Decreased proportion...	OMIM:619126
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepa...	ORPHA:84064
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyseal stippling, Microcornea, Coar...	ORPHA:35173
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Micropenis	OMIM:618840
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Immunodeficiency 9	Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene...	OMIM:612782
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension, Premature coronary...	OMIM:610947
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry red spot of the macula, Failure to t...	ORPHA:796
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Recurrent skin infections, Short stature, Joint stiffness, Postn...	OMIM:620210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Short stature, Splenomegaly, Limitatio...	ORPHA:93476
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Abse...	ORPHA:277
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Prurit...	OMIM:607626
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails,...	ORPHA:2930
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Osteoporosis, Lymphaden...	ORPHA:98848
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vascular dilatation, Vasculitis, Arterial...	ORPHA:3287
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog...	ORPHA:346
Listeriosis	Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hyp...	ORPHA:436252
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pu...	ORPHA:37
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ...	OMIM:300755
Porphyria Cutanea Tarda	Elevated hepatic iron concentration, Hepatic steatosis, Scarring, Corneal scarring, Chronic hepat...	ORPHA:101330
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N...	ORPHA:3260
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Cortisone Reductase Deficiency 1	Alopecia, Acne, Precocious puberty, Obesity, Hirsutism	OMIM:604931
Caspase 8 Deficiency	Failure to thrive, Short stature, Pneumonia, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4...	OMIM:607271
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Arthropathy, Hypogonadotropic hypogonadism...	OMIM:235200
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, E...	ORPHA:2325
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Conjunct...	OMIM:226600
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,...	ORPHA:417
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia...	ORPHA:2890
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop...	ORPHA:292
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He...	ORPHA:440713
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit...	OMIM:620321
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card...	OMIM:607685
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os...	ORPHA:564003
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p...	OMIM:616576
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Onycholysis, Pterygium	ORPHA:525
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Netherton Syndrome	Sparse scalp hair, Skin rash, Sparse eyelashes, Eczema, Short stature, Sparse eyebrow, Abnormal h...	ORPHA:634
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt...	ORPHA:2985
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Short stature, Small for gestational age, Flexion contract...	OMIM:601675
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp...	ORPHA:324964
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, F...	ORPHA:172
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H...	OMIM:105200
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c...	ORPHA:83471
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:411593
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I...	ORPHA:36234
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Roifman Syndrome	Hepatomegaly, Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia,...	OMIM:616651
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp...	OMIM:602540
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Peripheral arter...	ORPHA:71493
Nicolaides-Baraitser Syndrome	Joint dislocation, Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow...	ORPHA:3051
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Short stature, Failure to thrive in infancy, Portal hypertension, Hyp...	OMIM:613385
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Sh...	ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circulating t...	OMIM:256040
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Myositis, Alopecia, Skin rash, Renal insufficiency, Proteinuria, Discoid...	ORPHA:93552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Budd-Chiari syn...	OMIM:226300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Epicanthus, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive h...	OMIM:269920
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Acrocyanosis	ORPHA:3165
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large...	OMIM:301074
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Osteopenia, Brittle hair, Multiple joint contra...	ORPHA:33364
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Lacrimal...	OMIM:106260
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a...	ORPHA:589
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anemia of inadequate production, Anisocytosis, Sple...	OMIM:615631
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp...	ORPHA:83317
Lamellar Ichthyosis	Renal insufficiency, Short stature, Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Ab...	ORPHA:313
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d...	OMIM:259720
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Lymphadeno...	ORPHA:98850
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc...	ORPHA:50918
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis	OMIM:614328
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Elevated total serum trypt...	ORPHA:157991
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Nephropathy, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosc...	OMIM:617056
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate...	ORPHA:98826
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,...	ORPHA:79128
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair, Ectropion	OMIM:242300
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
H Syndrome	Microcytic anemia, Corneal arcus, Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Short st...	ORPHA:168569
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Congestive heart failure, Hepatitis, ...	ORPHA:454836
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Increased propo...	OMIM:618982
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Ca...	ORPHA:3386
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia,...	OMIM:606069
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Nephrog...	OMIM:613404
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur...	ORPHA:53
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f...	OMIM:610199
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Idiopathic Non-Lupus Full-House Nephropathy	Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematuria, Proteinuria, Synovitis...	ORPHA:567544
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Tricuspid regurgitation, Hepatosplenomeg...	ORPHA:505248
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Conjunctivitis, ...	ORPHA:99827
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Erythroderma, Abnormality of the nail	ORPHA:2897
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Thumb Deformity And Alopecia	Alopecia, Short stature	OMIM:188150
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia, Chronic otitis media, Failure to ...	ORPHA:33355
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic ane...	OMIM:615846
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Hepatoerythropoietic Porphyria	Osteopenia, Scarring alopecia of scalp, Red-brown urine, Erythroid hyperplasia, Purple urine, Hem...	ORPHA:95159
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro...	OMIM:619693
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonado...	ORPHA:465508
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, He...	ORPHA:171
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Lymphaden...	OMIM:618935
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Renal insufficiency, Protein...	ORPHA:728
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi...	OMIM:170100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor e...	OMIM:618806
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Adrenal hyperplasia, Acne, Diabetes mellitus, Dorsocervical fat pad, Osteop...	OMIM:615830
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Lipodystroph...	OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Alpha-Mannosidosis	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Splenomegaly, Arthritis, Type II diabet...	ORPHA:61
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Hepatic fibrosis, Cherry re...	ORPHA:333
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Incomplete ossification of pubis, Metopic depression, H...	ORPHA:313855
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph...	OMIM:609981
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis...	ORPHA:77259
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Short stature, Eczema, Hyperconvex nail, Eosinophi...	ORPHA:353298
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis	ORPHA:47045
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Short stature, Diabetes mellitus, Fema...	OMIM:208900
Porphyria Cutanea Tarda	Alopecia, Reduced uroporphyrinogen decarboxylase activity, Porphyrinuria, Onycholysis, Cirrhosis,...	OMIM:176100
Immunodeficiency 102	Decreased circulating IgG level, Recurrent skin infections, Partial absence of specific antibody ...	OMIM:301082
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega...	OMIM:618999
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocardial infarctio...	ORPHA:3452
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy...	ORPHA:85435
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone m...	ORPHA:391
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Intrauterine growt...	OMIM:608540
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Epicanthus, Brittle hair, Short stature, Upslanted palpebral fissure, Int...	ORPHA:50812
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti...	OMIM:203800
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo...	ORPHA:398124
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphaden...	OMIM:260920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Flexion con...	OMIM:203550
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium...	OMIM:305000
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Congenital Disorder Of Glycosylation, Type Iih	Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent...	OMIM:611182
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s...	OMIM:613101
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Lymphadeno...	OMIM:212050
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia	OMIM:617443
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis	OMIM:610539
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemi...	ORPHA:96123
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Moynahan Syndrome	Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair	ORPHA:2574
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short stature, Autoimmune thromb...	ORPHA:1855
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Autoimm...	ORPHA:36913
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetro...	OMIM:259730
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Agel Amyloidosis	Cataract, Proteinuria, Pruritus, Bilateral ptosis, Stage 5 chronic kidney disease, Cardiomyopathy...	ORPHA:85448
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ...	OMIM:102700
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs...	OMIM:620282
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arth...	OMIM:619423
Crandall Syndrome	Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ...	ORPHA:202
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure r...	OMIM:613179
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias...	OMIM:158310
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Anti-Glomerular Basement Membrane Disease	Arthritis, Vasculitis, Anemia	ORPHA:375
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Foot joi...	ORPHA:90321
Takayasu Arteritis	Arteritis	OMIM:207600
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Epiphyseal ...	OMIM:302960
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin...	OMIM:614921
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight l...	ORPHA:29207
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, ...	OMIM:619487
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B...	OMIM:619381
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased ac...	OMIM:607616
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Short stature, Diffuse alveolar hemorrhage, Splenomeg...	OMIM:616050
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Cockayne Syndrome Type 2	Hepatomegaly, Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Mal...	ORPHA:90322
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu...	ORPHA:93126
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal...	ORPHA:70475
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Eec Syndrome	Decreased response to growth hormone stimulation test, Urethral atresia, Coarse hair, Hypoplasia ...	ORPHA:1896
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe...	ORPHA:73263
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Slc35A1-Cdg	Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granules, Thrombocytopenia,...	ORPHA:238459
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Poems Syndrome	Sclerosis of hand bone, Thrombocytosis, Sclerosis of foot bone, Sclerosis of skull base, Increase...	ORPHA:2905
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype...	ORPHA:79277
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Primary Erythromelalgia	Leukemia, Vasculitis, Abnormality of thrombocytes	ORPHA:90026
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Nail dystrophy, Erythroderma, Sparse hair, Ectropion	ORPHA:100976
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling,...	ORPHA:584
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Beta-Ketothiolase Deficiency	Hypertension, Leukocytosis, Thrombocytosis, Hypotension	ORPHA:134
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Proportionate short stature, Seborrhe...	ORPHA:488618
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Epistax...	OMIM:211600
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Lichen Planus Pemphigoides	Pruritus, Conjunctivitis, Abnormality of the nail, Blepharitis	ORPHA:254478
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Ichthyosis Prematurity Syndrome	Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma	OMIM:608649
Acitretin/Etretinate Embryopathy	Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,...	ORPHA:40366
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Hypotension...	ORPHA:20
Temporal Arteritis	Retinal arteritis	OMIM:187360
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Hypergonadotropic hypogonadism, Flexion contracture, ...	ORPHA:2850
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, Growth del...	OMIM:301078
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Short stature, Eczema, Postnatal grow...	OMIM:212750
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Hep...	OMIM:232220
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Disproportionate short stature, ...	ORPHA:93308
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaund...	OMIM:601847
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phe...	ORPHA:536
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Gastrointes...	ORPHA:36426
Flynn-Aird Syndrome	Alopecia, Cataract, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone...	OMIM:136300
L-Ferritin Deficiency	Alopecia	OMIM:615604
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch...	ORPHA:679
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Short stature, ...	ORPHA:1867
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P...	ORPHA:436159
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Limbal dermoid, Lymphangioma, Downslanted palpebral fissu...	OMIM:176920
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onych...	ORPHA:2251
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio...	OMIM:121300
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Nephrotic syn...	ORPHA:238468
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne...	OMIM:234050
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Hepatic necros...	OMIM:127550
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Aredyld Syndrome	Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatrophy, Splenomega...	ORPHA:1133
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Jaundic...	ORPHA:108
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Arthritis, Keratoconjunc...	ORPHA:779
Renpenning Syndrome	Decreased testicular size, Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Severe ...	ORPHA:3242
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Spl...	ORPHA:342
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,...	ORPHA:188
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Failure to thrive, Small for gestational age	OMIM:613217
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Mucopolysaccharidosis, Type Ix	Hyperextensibility at elbow, Acetabular erosions, Short stature, Periarticular soft-tissue mass, ...	OMIM:601492
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, B lymphocytopenia, Recurrent sinusitis, Neut...	OMIM:601495
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas...	OMIM:263400
Osteoarthritis With Mild Chondrodysplasia	Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Hip osteoarthritis	OMIM:604864
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Skin rash, Short stature, Splenomegaly, Thrombocytopenia...	ORPHA:290
Lesch-Nyhan Syndrome	Anemia, Renal insufficiency, Hematuria, Gout	ORPHA:510
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemo...	OMIM:277900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Increased cir...	OMIM:617099
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Calcific stippling of infantile cartilaginous skeleto...	OMIM:215100
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,...	ORPHA:454831
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Xanthelasma, Corneal arcus, Sto...	OMIM:210250
Cinca Syndrome	Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Delayed closure of the anterior font...	ORPHA:1451
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Autoimmunity, Minimal change glomerulonephritis	OMIM:617006
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, He...	ORPHA:1775
Melorheostosis	Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Ectopic os...	ORPHA:2485
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot...	ORPHA:94093
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Failure to ...	ORPHA:79312
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased B cell count, Eczema, Absent peripheral lymph nodes in presence of infectio...	ORPHA:98813
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ...	OMIM:602271
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci...	OMIM:214950
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dacryocystitis, Bronchiectasis, Hep...	ORPHA:1163
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ...	ORPHA:2762
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossification, Limited knee exte...	OMIM:600969
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Lack of facial subcutaneous fat, Microcytic anemia, T ly...	ORPHA:2959
Immunoglobulin A Deficiency 2	Autoimmunity	OMIM:609529
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Absent eyebrow, Sparse scalp hair, Alopecia, Palpebral edema, Absent eyel...	ORPHA:69735
Caroli Disease	Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg...	ORPHA:53035
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin...	ORPHA:797
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Ectropion, Proteinuria, Diabetes mellitus, Corneal erosion, ...	ORPHA:33001
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve...	ORPHA:449395
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Immunodeficiency 58	Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma...	OMIM:618131
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Nail dystrophy	OMIM:616487
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Gastrointes...	ORPHA:537
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Joint st...	OMIM:252920
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G...	OMIM:615508
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel...	OMIM:618944
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Skin rash, Short stature,...	OMIM:610377
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alopecia, Maculopapula...	OMIM:308300
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Reduced level...	OMIM:224120
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cataract, Short stature, Urinary excretion of sialylated oligosacc...	OMIM:256550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Epicanthus, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Os...	OMIM:618541
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast...	ORPHA:509
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Elevate...	OMIM:613489
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop...	OMIM:243700
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Ureth...	OMIM:613990
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:252900
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ...	ORPHA:90280
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag...	OMIM:249100
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity	ORPHA:163703
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Limitation of joint mobility, Vasculitis,...	ORPHA:343
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Short stature, Splenomegaly, Flexion contracture,...	ORPHA:87876
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,...	OMIM:231000
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk...	ORPHA:319218
Giant Cell Arteritis	Alopecia, Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Joint stiffness, Me...	ORPHA:397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Premature thelarche, Osteolysis involving bones of the upper limbs, Atri...	ORPHA:371428
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic...	ORPHA:1882
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Cardiac arrest, Hepatomegaly	ORPHA:77260
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Polyarticular arthritis, Lymphopenia, Thr...	OMIM:616744
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Flexion contracture, Stroke-like episode, Cardiomyopathy, Thrombocytosi...	OMIM:212065
Immunodeficiency 22	Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Capillary leak, Retinal vasculitis, P...	OMIM:615758
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Orthostatic hypotens...	ORPHA:199299
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Wells Syndrome	Vasculitis, Eosinophilia	ORPHA:901
Recon Progeroid Syndrome	Joint laxity, Short stature, Thrombocytopenia, Hyperconvex thumb nails, Red eye, Absent lower eye...	OMIM:620370
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis	OMIM:176090
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormal EKG, Abnormality o...	ORPHA:3385
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Exe...	OMIM:232800
Peripheral Dysostosis	Osteoarthritis, Short stature, Joint stiffness	ORPHA:1795
Bone Marrow Failure Syndrome 4	Short stature, Eczema, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr...	OMIM:611881
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Epiphyseal Dysplasia, Multiple, 1	Severe short stature, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity,...	OMIM:132400
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Chronic otitis media, Vesicoureteral reflux...	ORPHA:567
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Epicanthus, Short stature, Flexion contracture, Osteolysis involving bones of the upper...	ORPHA:88630
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Digeorge Syndrome	Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat...	OMIM:188400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis, Short stature	OMIM:271600
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O...	ORPHA:77296
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Epicanthus, Membranoproliferative glomerulon...	OMIM:137940
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Disproportionate short stature, Delayed ossification of carpal bones, Erythroderma,...	OMIM:617425
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic...	OMIM:615207
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Short stature, Hepatomegaly	ORPHA:2204
Pseudoachondroplasia	Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye...	ORPHA:750
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphaden...	OMIM:619183
Overlap Myositis	Subluxation of the small joints of the hand, Raynaud phenomenon, Hypertension, Leukopenia, Arthri...	ORPHA:206572
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, He...	ORPHA:83617
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot...	OMIM:612079
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase ...	OMIM:616833
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cellulitis, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean ...	OMIM:617718
Noonan Syndrome 12	Tetralogy of Fallot, Atopic dermatitis, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis	OMIM:618624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Hepatic steatosis, Alopecia, Acne, Osteoporosis, Increased susceptibility ...	ORPHA:189427
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Sneddon Syndrome	Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Stroke, Lymp...	OMIM:182410
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Homocitrullinuria	OMIM:238970
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Mccune-Albright Syndrome	Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubu...	ORPHA:562
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr...	OMIM:610333
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Failure to thrive in infancy, A...	OMIM:612852
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega...	OMIM:619849
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay...	ORPHA:75233
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou...	ORPHA:90160
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Vasculitis, Leukopenia, Increased circulating IgG level, Incr...	ORPHA:83313
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An...	ORPHA:91547
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Renal insuffic...	ORPHA:727
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Microno...	OMIM:301072
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirr...	OMIM:606003
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Type I diabetes melli...	OMIM:618549
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Cataract, Short stature, Rhizomelia, Limitation of joint mobility, Growth d...	ORPHA:177
Blau Syndrome	Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Abnormal saliv...	ORPHA:90340
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Abnormal dental enamel morphology, Pruritus, Cheilitis...	ORPHA:1334
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Crouzon Syndrome	Multiple suture craniosynostosis, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Chromomycosis	Keratitis, Pruritus, Ankylosis, Osteolysis, Atypical scarring of skin, Keratoconjunctivitis sicca...	ORPHA:182
Pediatric-Onset Graves Disease	Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentr...	ORPHA:525731
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Obesity	ORPHA:2206
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis...	ORPHA:166002
Dengue Fever	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, ...	ORPHA:99828
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Phimosis...	ORPHA:2908
Tenorio Syndrome	Osteopenia, Joint laxity, Telecanthus, Delayed cranial suture closure, Raynaud phenomenon, Recurr...	OMIM:616260
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Lymphad...	OMIM:618048
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl...	ORPHA:2298
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Severe short stature, Short stature, Protrusio acetabul...	ORPHA:99642
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole...	OMIM:602347
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular he...	OMIM:617303
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia,...	OMIM:613177
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Corneal opacity, Camptodactyl...	OMIM:607015
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim...	ORPHA:3453
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Lethal Congenital Contracture Syndrome 10	Omphalocele, Stiff neck, Cardiomegaly, Hypoplasia of the thymus, Intrauterine growth retardation,...	OMIM:617022
Mevalonic Aciduria	Splenomegaly, Cataract, Downslanted palpebral fissures, Short stature	ORPHA:29
Gaucher Disease	Osteopenia, Joint dislocation, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Incre...	ORPHA:355
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Pneumonia, Leukocytosis, Hypoxemia, Leukopenia, Acute infectious pneumonia, ...	ORPHA:36238
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Epicanthus, Penile freckling, Large for gestational age, Splenomegaly...	OMIM:605309
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval, Anemia, Hematuria, Malar rash, Serositis, Thrombocytopenia	ORPHA:231111
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Abnormality of t...	ORPHA:228123
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatomegaly, Acholic stools, Elevated ...	ORPHA:30391
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Ptosis, Alopecia, Hepatomegaly, Short stature, Micronodular cirrho...	ORPHA:98907
Moyamoya Disease 1	Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Renal hypoplasia, U...	ORPHA:75389
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons...	ORPHA:94089
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Asymm...	OMIM:252930
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Usmani-Riazuddin Syndrome, Autosomal Recessive	Joint laxity, Epicanthus, Conjunctival hyperemia	OMIM:619548
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic...	ORPHA:124
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Recurrent pneumonia, Downslanted palpebral fissures, Hepatomegaly	OMIM:615637
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, O...	ORPHA:36397
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Flexion contracture, Renal cortical cysts, Erythroderma	OMIM:609180
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Delayed cranial suture closure, Congenital hypoplastic ane...	OMIM:105650
Immunoglobulin A Deficiency 1	Autoimmunity	OMIM:137100
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Interstitial pneumonitis, Autoimmunity, Aut...	ORPHA:231154
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ...	ORPHA:563609
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Conjunctival hyperemia, Abn...	ORPHA:95455
Immunodeficiency 36 With Lymphoproliferation	Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Growth...	OMIM:616005
Macs Syndrome	Joint laxity, Epicanthus, Alopecia, Palpebral edema, Short stature, Hypergonadotropic hypogonadis...	OMIM:613075
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Short stature, Osteochondritis dissecans	OMIM:165800
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content	OMIM:261750
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Blephariti...	OMIM:618535
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Hypoplasia of penis, Short stature, Hypospadias, Abnormal hair...	ORPHA:2315
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weigh...	ORPHA:514
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arthropathy, Congestive heart failure, Arthritis, Arrhythmia	ORPHA:85446
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve...	ORPHA:319251
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip...	ORPHA:2348
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Intrauterine growth retardati...	OMIM:616353
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Widely pat...	ORPHA:2886
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas...	ORPHA:562639
Harlequin Ichthyosis	Cataract, Sudden cardiac death, Limitation of joint mobility, Erythroderma, Ectropion	ORPHA:457
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Genu recurvatum, Splenomegaly, Abnormal pupil morphology, Abnormali...	ORPHA:2969
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Cataract, Failure to thrive, Portal hypertension, Congenit...	ORPHA:974
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Growth delay, Cutaneous telangiectasia, Conjunctivitis, Ectropion	OMIM:278750
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr...	ORPHA:85212
Antisynthetase Syndrome	Joint dislocation, Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Pruritu...	ORPHA:81
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Osteoarthritis, Generalized joint laxity, Genu...	ORPHA:85198
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased me...	ORPHA:90041
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa...	OMIM:235555
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Absence o...	ORPHA:90159
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Poikil...	OMIM:615234
Chikungunya	Raynaud phenomenon, Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodo...	ORPHA:324625
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ...	OMIM:214500
Lig4 Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Pancytopenia, Hypoplasia of penis, Telangiectasia of the s...	ORPHA:99812
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o...	ORPHA:169802
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Stroke...	ORPHA:449285
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Pancytopenia, Unilateral renal agenesis,...	OMIM:614576
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Increased circulating lactat...	ORPHA:158057
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Shock, Renal insufficiency, Stiff neck, Skin rash, Maculopapular e...	ORPHA:319213
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility, Short stature	ORPHA:63442
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym...	ORPHA:543
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Pruritus, Abnormality of the thyroid gland, Jaundic...	ORPHA:186
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Severe short stature, Joint stiffness, Splenomegaly, Congestive he...	OMIM:230500
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Vasculitis, Hypoxemia, Abnormal blood gas level, Hypotension, Pancreatitis	ORPHA:70578
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo...	OMIM:259100
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Sple...	OMIM:259700
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Ventral hernia, Inguinal hernia, Bilateral ptosis, Osteoarthritis, Cryptorchidism, Ge...	OMIM:618000
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Ar...	ORPHA:99745
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatos...	ORPHA:79259
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Proportionate short stature	ORPHA:93283
B4Galt1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Inflammator...	ORPHA:79332
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Mucopolysaccharidosis Type 6	Sinusitis, Joint stiffness, Splenomegaly, Disproportionate short-trunk short stature, Genu valgum...	ORPHA:583
Autosomal Dominant Spastic Paraplegia Type 36	Urinary urgency, Arthritis, Urinary incontinence	ORPHA:320365
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb...	OMIM:614008
Epiphyseal Dysplasia, Multiple, 5	Short stature, Premature osteoarthritis, Genu valgum, Delayed ossification of carpal bones, Delay...	OMIM:607078
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p...	OMIM:615952
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Conjunctivitis, Lambdoidal craniosynostosis, Shallow orbits...	OMIM:123500
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ankle flexion contracture, Splenomegaly, Knee flexio...	OMIM:608799
Incontinentia Pigmenti	Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,...	ORPHA:464
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Short stature, Fine ha...	ORPHA:1806
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Developmental cataract, Nail dystrophy, Nail dysplasia	OMIM:212360
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Nail-Patella Syndrome	Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,...	ORPHA:2614
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Colitis, Nail dystrophy, Bone marrow hypocellularity, I...	OMIM:615190
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Genu varum, Absent eyebrow, Alopecia, Short statur...	OMIM:264090
Necrotizing Enterocolitis	Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia	ORPHA:391673
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater...	ORPHA:79083
Biotinidase Deficiency	Alopecia, Skin rash, Organic aciduria, Conjunctivitis, Eczematoid dermatitis, Decreased circulati...	ORPHA:79241
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia	OMIM:620296
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Familial Benign Copper Deficiency	Early balding, Short stature, Acne, Anemia	ORPHA:1551
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Failure to thrive, Hypospadias, Eczema, Proportionate short stature, Inguinal herni...	OMIM:620331
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Laron Syndrome	Hypoplasia of penis, Severe short stature, Abnormality of the endocrine system, Osteoarthritis, A...	ORPHA:633
Treacher-Collins Syndrome	Thyroid hypoplasia, Hypoplasia of penis, Cataract, Abnormal dental enamel morphology, Absent eyel...	ORPHA:861
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hepatomegaly, Alopecia, Lipodystrophy, Insulin-resistant diabete...	OMIM:248370
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Lassa Fever	Shock, Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r...	ORPHA:93672
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveiti...	OMIM:612387
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral densi...	ORPHA:834
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Decreased circulating antibod...	OMIM:222470
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Abnor...	ORPHA:79078
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d...	OMIM:613027
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons...	ORPHA:79444
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Kury-Isidor Syndrome	Alopecia, Hypertrichosis, Growth delay, Astigmatism, Recurrent otitis media, Downslanted palpebra...	OMIM:619762
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Short stature, Small for gestational age, Splenomegaly, Cryptorchidism,...	OMIM:618440
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien...	ORPHA:199296
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Mediastinal lymphaden...	ORPHA:379
Cockayne Syndrome Type 3	Dry hair, Mild postnatal growth retardation, Flexion contracture, Microcornea, Premature graying ...	ORPHA:90324
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo...	ORPHA:275
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno...	ORPHA:793
Fish-Eye Disease	Hepatomegaly, Corneal opacity, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Psoriasiform dermatitis, Palpebral edema, Lacrimal duct stenosis, Unilateral renal ag...	ORPHA:221139
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Intracranial hemor...	ORPHA:90795
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital cyst, Eyelid coloboma	OMIM:164180
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne...	OMIM:278730
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count...	OMIM:618394
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Telangiectases of t...	ORPHA:576
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin...	ORPHA:169105
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Congestive heart failu...	ORPHA:67
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Propionyl-CoA carb...	OMIM:210210
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin...	ORPHA:85436
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative...	ORPHA:48435
Short Syndrome	Telecanthus, Alopecia, Corneal opacity, Severe short stature, Diabetes mellitus, Abnormal dental ...	ORPHA:3163
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Decreased glomerular fil...	OMIM:232200
Hypochondroplasia	Osteoarthritis, Abnormality of the elbow, Joint hyperflexibility, Childhood onset short-limb shor...	ORPHA:429
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid...	ORPHA:171876
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ...	OMIM:617052
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ...	OMIM:618886
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Thrombocytope...	OMIM:603553
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema	ORPHA:703
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly, Cardiomyopathy, Failure to thrive, Ptosis	OMIM:619046
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Leigh Syndrome	Multiple joint contractures, Complex organic aciduria, Neutropenia, Frontal hirsutism, Alopecia, ...	ORPHA:506
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ...	ORPHA:542592
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage	OMIM:616414
Tangier Disease	Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Nail dy...	OMIM:205400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Genu val...	OMIM:615630
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Growth delay, Pulm...	ORPHA:2414
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat...	OMIM:186580
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Alopecia, Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fracture...	ORPHA:93160
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Severe short stature, Short stature, Inguinal ...	OMIM:309900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Cataract, Short stature, Decreased response to growth hormone stimulation test, Conge...	OMIM:616007
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Juvenile cat...	ORPHA:2909
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Wormian bones, Decreased ad...	OMIM:608612
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Increased bone mineral density, Cataract, Short stature, Decreased respons...	ORPHA:79443
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Lipoatrophy, Seborrheic dermatitis, Abnormality of the lymphatic syst...	ORPHA:276280
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Eczema, Allergic rhinit...	OMIM:615816
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Increased intraabdominal fat, Hepatic steatosis, Abnormality of the na...	ORPHA:280365
Ane Syndrome	Alopecia, Multiple joint contractures, Short stature, Decreased response to growth hormone stimul...	ORPHA:157954
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Short stature, Wormian bones, Osteoporosis, Intracranial he...	OMIM:309400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Craniosynostosis, Absent eyelashes, Cry...	ORPHA:166035
Colchicine Poisoning	Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, ...	ORPHA:31824
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Multiple Epiphyseal Dysplasia, Beighton Type	Cataract, Short stature, Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitat...	ORPHA:166011
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru...	OMIM:602400
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Tricuspid regurgitation, Joint hypermobility, Trichorrhexis nodosa, Sinus bradycardia, ...	OMIM:261990
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Lentiglo...	ORPHA:191
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,...	ORPHA:169090
Plague	Chapped lip, Hepatomegaly, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly,...	ORPHA:707
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Epicanthus, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Sple...	OMIM:608233
Zimmermann-Laband Syndrome	Hepatomegaly, Telecanthus, Cataract, Joint hypermobility, Splenomegaly, Growth delay, Long eyelas...	ORPHA:3473
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Alopecia totalis, Normochromic anemia, B...	OMIM:618775
Marburg Hemorrhagic Fever	Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage,...	ORPHA:99826
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist, Dystrophic fi...	ORPHA:1657
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Widened atrophic scar, Knee dislocation, Shoulder dislocation, Per...	ORPHA:536532
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature...	OMIM:129400
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Pneumonia, Intraventricu...	ORPHA:420741
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Osteopor...	ORPHA:264580
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278740
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Short stature, Recurrent fractures, Splenomegaly, Thrombocytopen...	OMIM:222700
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Primary adrenal ...	ORPHA:2047
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir...	OMIM:109650
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv...	OMIM:616834
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased circulating IgG level, Increased he...	ORPHA:284227
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi...	OMIM:253270
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Abnormal toenail morphology, Abnormality of ...	ORPHA:494
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Alopecia, Raynaud phenomenon, Gastrointestinal telangie...	ORPHA:90291
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia, Telangiectasia of the skin, Mucosal telangiect...	ORPHA:100
Prolidase Deficiency	Hepatomegaly, Abnormal fingernail morphology, Pruritus, Splenomegaly, Crusting erythematous derma...	ORPHA:742
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph...	ORPHA:2045
Monilethrix	Abnormal eyebrow morphology, Cataract, Slow-growing hair, Brittle hair, Abnormal eyelash morpholo...	ORPHA:573
Hutchinson-Gilford Progeria Syndrome	Alopecia, Angina pectoris, Myocardial infarction, Congestive heart failure, Absence of subcutaneo...	OMIM:176670
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Short stature, Frontal balding, Synophrys, Obesity, Increased serum testoste...	ORPHA:247768
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Interstitial Lung And Liver Disease	Hypoxemia, Thrombocytosis, Anemia	OMIM:615486
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp...	ORPHA:88
Mogs-Cdg	Hepatomegaly, Alopecia, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Thrombocytope...	ORPHA:79330
Glycogen Storage Disease Ixa1	Growth delay, Splenomegaly, Elevated hepatic transaminase, Hepatomegaly	OMIM:306000
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk...	OMIM:308205
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Short stature, Decreased response to growt...	OMIM:618223
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enla...	OMIM:277440
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Epicanthus, Failure to thrive, Eczema, Seborrheic dermatitis, Obe...	ORPHA:369950
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie...	ORPHA:221
Pemphigus Foliaceus	Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Bilateral ptosis, Nail dystrophy, Intrauterine growth ...	OMIM:620040
Fraser Syndrome 2	Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agenesis, Hypoplasia...	OMIM:617666
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopat...	OMIM:181000
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow,...	OMIM:613563
Progeroid Short Stature With Pigmented Nevi	Cataract, Short stature, Allergic rhinitis, Hypospadias, Small for gestational age, Diabetes mell...	OMIM:176690
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Hypoxemia, Bradycardia, Hypotension	ORPHA:70587
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Abnormal hair morphology, Nephrogenic diabetes insipidus,...	ORPHA:3130
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Vesicoureteral reflux, Genu varum, Short stature, Leukocytosis, Hepatosplen...	OMIM:274000
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Short stature, Osteoporosis, Cheilitis, Bronchiectasis, Gro...	OMIM:615468
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Abnormality o...	ORPHA:1005
Spondyloepiphyseal Dysplasia, Nishimura Type	Osteoarthritis, Delayed epiphyseal ossification, Disproportionate short-limb short stature	OMIM:618618
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Hematochezia, Nail dystrophy, Nail dysplasia, Anemia	OMIM:175500
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasi...	OMIM:616589
Hypomelanosis Of Ito	Alopecia, Epicanthus, Cataract, Iris coloboma	OMIM:300337
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Roifman-Chitayat Syndrome	Osteopenia, Lacrimal duct stenosis, Pneumonia, Ectopic kidney, Arthritis, Umbilical hernia	OMIM:613328
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Hypogonadism, Intr...	ORPHA:228390
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Keratocon...	ORPHA:309031
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytope...	OMIM:242900
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Short stature, Chilblains, ...	ORPHA:51
Analbuminemia	Patent ductus arteriosus, Osteoporosis, Hypotension	OMIM:616000
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Inguinal hernia, Short st...	OMIM:130000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,...	OMIM:174000
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Microcornea, Premature graying of hair, Sparse hair, Absent eyebrow, ...	OMIM:268400
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom...	OMIM:610768
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoid arthritis, Mye...	ORPHA:48104
Occipital Horn Syndrome	Osteopenia, Coarse hair, Abnormality of the wrist, Femoral hernia, Osteomalacia, Scarring, Hiatus...	ORPHA:198
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Nephrotic syndrome, Arr...	ORPHA:3099
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Weight loss, Hematochezia, Asci...	ORPHA:2070
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Ar...	OMIM:153400
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis,...	OMIM:601853
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypertension, Hypotension	OMIM:611489
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Ankle clonus, Hypogonadism, Type II diabetes mellitus, Type I diabetes m...	ORPHA:412057
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Minimal change glomerulonephritis, Congestiv...	ORPHA:1830
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypogonadism, Sparse hair, Fail...	ORPHA:2316
Sialuria	Hepatomegaly, Epicanthus, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Hypop...	OMIM:269921
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of...	ORPHA:93474
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278720
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Genu varum, Rickets, Genu valgum, Elevated circulating...	OMIM:600785
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Short stature, Splenomegaly, Paronychia, Low alkaline phosphatas...	OMIM:201100
Bloom Syndrome	Adipose tissue loss, Paronychia, Uveitis, Otitis media, Decreased proportion of CD4-positive T ce...	ORPHA:125
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis	OMIM:614380
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Subcapsular cataract, Hepatic steatosis, Ectropion	OMIM:275630
Ichthyosis, Congenital, Autosomal Recessive 9	Ectropion, Erythroderma	OMIM:615023
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop...	ORPHA:520
Hereditary Acrokeratotic Poikiloderma	Short stature, Eczema, Camptodactyly of finger, Abnormal preputium morphology, Pustule, Abnormali...	ORPHA:2907
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Osteopenia, Failure to thrive, Acan...	ORPHA:14
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Keutel Syndrome	Alopecia, Short stature, Recurrent sinusitis, Recurrent otitis media, Pulmonary arterial hyperten...	ORPHA:85202
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Prolonged QT interval, Tachycardia, Atri...	OMIM:613327
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Craniosynostosis, Scarring, Anemia, Growth ...	ORPHA:79396
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc...	ORPHA:508542
Mucopolysaccharidosis, Type Vii	Flexion contracture, Coarse hair, Reduced leukocyte beta-glucuronidase activity, Hepatomegaly, Sh...	OMIM:253220
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating aspartate aminotransferase ...	OMIM:608779
Bresek Syndrome	Decreased testicular size, Alopecia, Cryptorchidism, Renal hypoplasia, Growth delay, Vesicoureter...	ORPHA:85284
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Pneumocystosis	Abnormal neutrophil count, Hypoxemia, Acute infectious pneumonia, Interstitial pneumonitis, Incre...	ORPHA:723
Chops Syndrome	Curly hair, Cataract, Short stature, Thick hair, Tracheomalacia, Splenomegaly, Synophrys, Cryptor...	OMIM:616368
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Renal insufficiency, Short stature, Hypospadias, Small for gestational age, Cryptorch...	OMIM:300661
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascendin...	OMIM:619825
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Hereditary Xanthinuria	Crystalluria, Arthropathy, Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Sulfit...	ORPHA:3467
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Renal cyst, Lacrimal duct stenosis	OMIM:615560
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Corneal opacity, Short stature, Joint stiffness, Splenomegaly, Coarse hai...	ORPHA:585
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla...	OMIM:618061
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Slow-growing hair, Thin nail, Sh...	OMIM:190350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr...	OMIM:232240
Pulmonary Arteriovenous Malformation	Brain abscess, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Liver absce...	ORPHA:2038
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Osteoarthritis, Disproportionate short-trunk short stature, Genu valgum, ...	OMIM:271650
De Sanctis-Cacchione Syndrome	Severe short stature, Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjunctivi...	OMIM:278800
Gapo Syndrome	Keratoconus, Hepatomegaly, Epicanthus, Alopecia, Sparse eyelashes, Delayed cranial suture closure...	OMIM:230740
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature, Hyperinsulinemia	ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, Ureterocele, Abnormali...	ORPHA:79404
Erythermalgia, Primary	Pruritus, Keratoconjunctivitis sicca, Palpitations	OMIM:133020
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak...	ORPHA:2232
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus	ORPHA:90036
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis	ORPHA:91546
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Palpitations	ORPHA:206569
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Raynaud phenomenon, Flexion contracture, Vasculitis, ...	ORPHA:90289
Monosomy 18P	Alopecia, Epicanthus, Short stature, Low posterior hairline, Hypertension, Hypothyroidism, Ptosis	ORPHA:1598
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio...	OMIM:616914
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum	ORPHA:1822
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu...	ORPHA:98827
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis...	ORPHA:85438
Sepsis In Premature Infants	Tachycardia, Cyanosis, Thrombocytopenia, Leukocytosis, Splenomegaly, Enterocolitis, Bradycardia, ...	ORPHA:90051
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth...	OMIM:208230
Plasminogen Deficiency, Type I	Nephrolithiasis, Nephritis, Conjunctivitis, Periodontitis	OMIM:217090
Hurler Syndrome	Flexion contracture, Hernia, Hepatomegaly, Short stature, Hepatosplenomegaly, Cardiomyopathy, Umb...	OMIM:607014
Dowling-Degos Disease	Abnormal fingernail morphology, Penile freckling, Pruritus, Arthritis, Acne inversa	ORPHA:79145
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Conjunctivitis, Chronic otitis media, Sparse medial eyebrow, Recurrent ...	OMIM:616268
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pi...	ORPHA:900
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Osteolysis, Arthritis,...	ORPHA:220393
Desbuquois Dysplasia 1	Joint dislocation, Joint laxity, Severe short stature, Phalangeal dislocation, Osteoarthritis, Os...	OMIM:251450
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Hypotension, Telangiectasia macularis erupti...	ORPHA:79455
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail d...	ORPHA:2309
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Diabetes insipidus, Splen...	OMIM:225750
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Renal cyst, Elevated gamma-glutamyltransferase level, Intrah...	OMIM:614866
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Small for gestational age, Pruritus, Abnormality of the...	ORPHA:69665
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie...	OMIM:614564
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-...	OMIM:619774
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Infant Botulism	Ptosis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis med...	ORPHA:178478
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Epicanthus, Hypospadias, Supernumerary nipple, Truncal obesity	ORPHA:3224
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thri...	OMIM:300972
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Olmsted Syndrome 2	Pruritus, Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu...	ORPHA:324
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Joint ...	OMIM:620080
Paroxysmal Hemicrania	Stiff neck, Palpebral edema, Diabetes mellitus, Hypertension, Rhinitis, Conjunctival hyperemia, P...	ORPHA:157835
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congest...	ORPHA:90033
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature	ORPHA:3004
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Juvenile cataract, Hy...	ORPHA:221008
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension	ORPHA:767
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Abnormality of the...	ORPHA:3253
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Increased bone mineral density, Cortical scl...	OMIM:620366
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Delayed epiphyseal ossification, Disproportionate short statu...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Short stature, Small for gestational age, Hip subluxation, Generalized joint laxity...	ORPHA:93360
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R...	OMIM:610984
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis,...	ORPHA:92050
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Onycholysis, Seborrheic dermatitis	OMIM:104570
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia	OMIM:608068
Ichthyosis, Congenital, Autosomal Recessive 6	Ectropion, Erythroderma	OMIM:612281
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Short stature, Leukocytosis, Flexion contracture, Renal hypoplasi...	OMIM:619321
Trichinellosis	Skin rash, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Conj...	ORPHA:863
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypothyroidism, Neutro...	OMIM:607944
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Megalocornea, Hepatomegaly, Sparse eyebrow, ...	OMIM:252500
Hallermann-Streiff Syndrome	Telecanthus, Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnorm...	ORPHA:2108
Adams-Oliver Syndrome 5	Inguinal hernia, Hypersplenism, Splenomegaly, Hypoplastic toenails, Portal vein thrombosis, Umbil...	OMIM:616028
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Alopecia totalis, Joint stiffness, Atypical scarring of skin, Nail dystrophy	ORPHA:1366
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Leprosy	Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Testicular mas...	ORPHA:548
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Megalocornea, Prominent metopic ridge, Short sta...	ORPHA:1272
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, Thoracic hypertrichosis, Hypothyroidism, Joint laxity, Hepatomegaly, Elev...	OMIM:618268
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis, Cataract	ORPHA:90653
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Satoyoshi Syndrome	Alopecia, Short stature, Osteolytic defects of the phalanges of the hand, Genu valgum, Alopecia u...	OMIM:600705
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp...	ORPHA:1234
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Ankylob...	OMIM:263650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec...	ORPHA:1655
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Short stature, Telangiectasia of the ...	ORPHA:910
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven...	OMIM:605676
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip...	OMIM:615947
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Alopecia, Pancytopenia, Phimosis, Urinary bladder infla...	ORPHA:99921
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Hypertensive retinopathy, Elevated urinary catecholamine level, Pancrea...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoacidur...	ORPHA:534
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Epicanthus, Failure to thrive in infancy, Joint hypermobility, Sp...	OMIM:619418
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis, Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis	OMIM:167100
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Lipoma, Limbal d...	OMIM:613001
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splen...	OMIM:613471
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Oligosacchariduria, Cheilitis, Lymphadenopathy	ORPHA:2483
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy...	OMIM:608594
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Multinodular goiter, Nail dystrophy, Alopecia of scalp	OMIM:618373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Seborrheic dermatitis, Large for gestational age, Microvesicular h...	OMIM:300868
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Hematuria, Sparse hair	ORPHA:1839
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm...	ORPHA:99226
Turner Syndrome	Osteopenia, Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflamm...	ORPHA:881
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Ju...	ORPHA:221016
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Thrombocytopenia, Ocular albinism	OMIM:614171
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Abnormal toenai...	ORPHA:30
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Moderate Hemophilia A	Gastrointestinal hemorrhage, Arthropathy, Epidural hemorrhage, Hip contracture, Intraventricular ...	ORPHA:169805
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Urinary incontinence, Recurrent fractures, Osteoarthritis, Painless f...	OMIM:608654
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ectropion	OMIM:242510
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Splenomegaly, Upslanted palpebral fissure, Intrauteri...	ORPHA:3035
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Hypoxemia, ...	ORPHA:542323
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Large for gestati...	ORPHA:544488
Mucopolysaccharidosis Type 1	Joint dislocation, Inguinal hernia, Sinusitis, Corneal opacity, Abnormality of the tonsils, Short...	ORPHA:579
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Olmsted Syndrome 1	Subungual hyperkeratosis, Corneal opacity, Pruritus, Flexion contracture, Nail dystrophy, Opacifi...	OMIM:614594
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Ren...	OMIM:307800
Gapo Syndrome	Keratoconus, Alopecia, Palpebral edema, Sparse eyelashes, Short stature, Sparse eyebrow, Early ba...	ORPHA:2067
Hemophilia B	Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage	OMIM:306900
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of ...	ORPHA:464329
Vertical Talus, Congenital	Arthritis	OMIM:192950
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, I...	ORPHA:411543
Hemifacial Atrophy, Progressive	Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis	OMIM:141300
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Hurler Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Short stature, Camptodactyly of finger...	ORPHA:93473
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Pulmonic stenosis,...	OMIM:608149
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Inguinal hernia, Short stature, Joint stiffness, Heparan sulfate excretion in urine...	OMIM:252940
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Nephropathy, Nephritis, Decreased glomerular filtration rate	OMIM:162000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Di...	ORPHA:93111
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Inguinal hernia, Corneal opacity, Short st...	ORPHA:217085
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Absent eyelashes, Flexion contrac...	ORPHA:90153
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Large vessel vasculitis, Hashimoto thyroiditis, Psoriasiform dermatitis, Unila...	ORPHA:49041
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Short stature, Retinal telangiectasia, Postnatal growth retardation, Thrombocytopenia...	OMIM:612199
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Corneal opacity, Abnormal fingernail morphology, Congenital...	ORPHA:1647
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hyperphosphaturia, Corneal opacity, Short stature, Recurrent fractures, Pre...	OMIM:163200
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Absent toenail...	ORPHA:158687
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I...	ORPHA:1454
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ankle swelling, Rig...	ORPHA:99095
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep...	ORPHA:411536
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis...	ORPHA:90062
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Nipah Virus Disease	Infectious encephalitis, Hypotension	ORPHA:99825
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Inguinal hernia, Corneal opacity, Short st...	ORPHA:217093
Pseudoachondroplasia	Joint laxity, Limited hip extension, Genu recurvatum, Ulnar deviation of the wrist, Irregular car...	OMIM:177170
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypothyroidism, Obesity, Go...	ORPHA:412
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Hypotension, Mastocytosis, Arrhyt...	ORPHA:2135
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Cardiofaciocutaneous Syndrome 1	Osteopenia, Absent eyebrow, Epicanthus, Curly hair, Slow-growing hair, Short stature, Hyperextens...	OMIM:115150
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails	OMIM:226650
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Developmental cataract, Narrow palpebral fissure, Small nail	OMIM:614219
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis,...	OMIM:620233
Cryptogenic Organizing Pneumonia	Hypoxemia, Neutrophilia, Leukocytosis, Cyanosis	ORPHA:1302
8P11.2 Deletion Syndrome	Hemolytic anemia, Epicanthus, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, ...	ORPHA:251066
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi...	OMIM:235255
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Alkaptonuria	Joint dislocation, Myocardial infarction, Joint stiffness, Coronary artery calcification, Osteoar...	ORPHA:56
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contract...	OMIM:230000
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hypertensive crisis, Anuria, Diabetes mellitus, Pneumonia, Brain abscess, Myoca...	ORPHA:544482
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Short stature, Scarring, Pruritus, Re...	ORPHA:158668
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai...	ORPHA:2269
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Hypercalciuria, Reduc...	ORPHA:428
Hennekam Syndrome	Epicanthus, Mild postnatal growth retardation, Camptodactyly of finger, Sparse axillary hair, Ect...	ORPHA:2136
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:207750
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Epicanthus, Brittle hair, Telecanthus, Alopecia, Multicystic kidne...	ORPHA:2750
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Primary hyperparath...	OMIM:239200
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Alopecia, Ectopic ossification in tendon tissue, Ect...	OMIM:135100
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Abnormal salivary gland morphology, Increased corneal thickness, Abnormal ...	ORPHA:2363
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive...	ORPHA:33226
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Vesicouret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Vesicouret...	ORPHA:363958
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ...	ORPHA:978
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko...	ORPHA:764
Hajdu-Cheney Syndrome	Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Decreased skull...	ORPHA:955
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Skin rash, Hepatomegaly	ORPHA:53715
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Palpebral edema, Short stature, Microcytic anem...	ORPHA:99843
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Short stature, Splenomegaly, Jaundice, Growth delay, Nu...	OMIM:608885
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Limitation of joint mobility, Patellar hypoplas...	ORPHA:261279
Mucopolysaccharidosis, Type Vi	Flexion contracture, Hepatomegaly, Tricuspid regurgitation, Short stature, Cardiomyopathy, Umbili...	OMIM:253200
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Decreased testicular size	ORPHA:85279
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Dispro...	ORPHA:89936
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryp...	OMIM:613451
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Renal cyst, Sparse hair, Joint laxity, Hepatomegaly, Short statur...	OMIM:613610
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Abnormal lymphatic vessel morphology, Decrease...	ORPHA:90362
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Childhood-onset short-trunk short stature, Cervical subluxation	OMIM:184100
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Iron deficiency anemia, ...	ORPHA:100075
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Leukocytosis, Jaundice,...	ORPHA:676
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph...	ORPHA:51636
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myoca...	ORPHA:3342
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha...	ORPHA:740
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail, Ectropion	OMIM:242100
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Spar...	OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short stature, Cubitus valgus, Cryptorchidism, Flexion contracture, Upslanted palpebral fissure, ...	OMIM:300534
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Stickler Syndrome, Type I	Arthropathy, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility	OMIM:108300
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Inguinal hernia, Short stature, Failure to thrive in infancy...	OMIM:615582
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Skin rash, Proteinuria, Orchitis,...	ORPHA:761
Marshall Syndrome	Cataract, Sparse eyelashes, Short stature, Ectopia lentis, Sparse eyebrow, Osteoarthritis, Genu v...	ORPHA:560
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Pneumonia, Glomerulonephritis, Hematemesis, Thrombocytopenia, Leuk...	ORPHA:340
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Stroke, Dec...	ORPHA:760
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Blepharophimosis, Thymus hyperplasia, Congenital contracture	OMIM:619036
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Loeys-Dietz Syndrome 6	Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat...	OMIM:619656
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Alkaptonuria	Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul...	OMIM:203500
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocyt...	OMIM:230900
Meningococcal Meningitis	Shock, Stiff neck, Skin rash, Stroke, Hypotension, Infectious encephalitis	ORPHA:33475
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Limitation of joint mobility, Disproportionate short-trunk short st...	OMIM:313400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Low a...	ORPHA:495875
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	OMIM:608013
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Nail dy...	ORPHA:90154
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Corneal dystrophy, Upslanted palpebral fissure, Hypertension, Patchy alopecia, Spa...	OMIM:617763
Focal Dermal Hypoplasia	Acute hepatic failure, Omphalocele, Alopecia, Multicystic kidney dysplasia, Corneal opacity, Camp...	ORPHA:2092
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio...	OMIM:619991
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Short stature, Proteinuria, Pancreatic cysts, Ovaria...	OMIM:311200
Scalp-Ear-Nipple Syndrome	Anisocoria, Multiple lipomas, Sparse hair, Supraventricular tachycardia, Iris coloboma, Short sta...	OMIM:181270
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro...	ORPHA:244242
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Cataract, Enlarged joints, Osteoarthritis, Disproportionate short ...	ORPHA:1427
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Hypoplastic fingernail	ORPHA:257
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Right ventricular failure, Palpitations, Facial telangiectasi...	ORPHA:97287
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Epicanthus, Absent nipple, Aplasia of the thymus, Short stature, Sparse eyebr...	OMIM:620186
Autosomal Recessive Robinow Syndrome	Epicanthus, Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger,...	ORPHA:1507
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Perry Syndrome	Hypotension	ORPHA:178509
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Skin rash, Osteoporosis	OMIM:601979
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, L...	ORPHA:667
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Prolonged QT i...	ORPHA:26793
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Epicanthus, Juvenile myelomonocytic leukemia, Short stature, Hy...	OMIM:163950
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a...	OMIM:216400
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue hist...	OMIM:230600
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hepatomegaly, Splenomegaly, P...	ORPHA:163746
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or...	ORPHA:556
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agen...	OMIM:137920
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Epispadias, Abnormal penis morphology, Alopecia, Short stature, Hypospadias,...	ORPHA:3107
Acromegaly	Synophrys, Osteoarthritis, Wide penis, Pituitary prolactin cell adenoma, Abnormal toenail morphol...	ORPHA:963
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Orthostatic hypotension due to autonomic dysfu...	ORPHA:642
Chromosome 5Q12 Deletion Syndrome	Patent ductus arteriosus, Hypotension	OMIM:615668
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Joint dislocation, Epicanthus, Inguinal hernia, Elbow dislocation, Osteoarthritis, C...	ORPHA:285
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Congestive heart failure, Pulmonary carcinoid tumo...	ORPHA:363618
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae, Hypotension	ORPHA:95619
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Neutropenia	OMIM:617050
Mirage Syndrome	Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Aspiration pneum...	OMIM:617053
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cardiomegaly, Abnormal heart valve physiology, Hypoplasia of t...	ORPHA:3384
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicou...	ORPHA:3455
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey...	OMIM:618479
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Ankylosis, Osteolysis, Sparse hair	ORPHA:659
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocal...	OMIM:300322
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Nephrolithiasis, Adenoma sebaceum, T...	ORPHA:2387
Multiple Epiphyseal Dysplasia Type 4	Rhizomelia, Dislocation of the femoral head, Joint stiffness, Moderately short stature, Flexion c...	ORPHA:93307
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Aplasia...	OMIM:149730
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis...	ORPHA:77261
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Lacunar stroke, Alopecia, Transient ischemic attack, Urinary incontinence	OMIM:600142
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Hunter-Macdonald Syndrome	Aortic regurgitation, Inguinal hernia, Short stature, Hypospadias, Delayed cranial suture closure...	OMIM:611962
Doors Syndrome	Thrombocytosis, Double outlet right ventricle, Sagittal craniosynostosis, Aspiration pneumonia	ORPHA:79500
Spondylometaphyseal Dysplasia, Kozlowski Type	Severe short stature, Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral...	ORPHA:93314
Zimmermann-Laband Syndrome 1	Hepatomegaly, Hyperextensibility of the finger joints, Cataract, Thick hair, Highly arched eyebro...	OMIM:135500
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ...	OMIM:612132
Hydroxykynureninuria	Stomatitis, Tachycardia, Hypotension	ORPHA:79155
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity...	ORPHA:284984
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Urinary bladder sphi...	OMIM:300100
Spondyloepimetaphyseal Dysplasia, Missouri Type	Osteoarthritis, Limited elbow extension, Rhizomelia, Genu varum	OMIM:602111
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Abnormality of the adrenal gla...	ORPHA:68
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Alopecia, Congenital hip dislocation, Short stature, Unilateral renal agenesi...	OMIM:308050
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Elevated circulating aspartate a...	ORPHA:466677
Tetrasomy 9P	Joint dislocation, Myositis, Biliary atresia, Intrauterine growth retardation, Micropenis, Amelog...	ORPHA:3310
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Multiple Myeloma	Osteopenia, Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, Nephropathy, Acute ki...	ORPHA:29073
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial...	ORPHA:1328
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased respons...	ORPHA:3464
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Iron deficiency anemia, Palpit...	ORPHA:100078
Mucopolysaccharidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Short stature, Splenomegaly, Limitation of joint ...	ORPHA:580
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Disproportionate short...	OMIM:602557
Johanson-Blizzard Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Micropenis, Hypothyroidism, Abnormali...	OMIM:243800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki...	ORPHA:79233
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Osteopetrosis, Anemia	OMIM:612301
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Gastritis, Congestive h...	ORPHA:31826
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Macroorchidism, Joint stiffness, Splenomeg...	ORPHA:93
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Short stature, Delayed cranial suture closure, Developmental cat...	OMIM:601088
Vici Syndrome	Decreased circulating IgG level, Congestive heart failure, Decreased circulating IgG2 level, Dila...	OMIM:242840
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	OMIM:607625
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Short stature, Flexion contracture, Premature osteoarthritis, Recurrent pneumonia	OMIM:215150
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Mercury Poisoning	Hypertension, Tachycardia, Interstitial pneumonitis, Hypotension	ORPHA:330021
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of the...	ORPHA:744
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Short stature, Osteoarthritis, Subdural hemorrhage, Intrauterine growth retardation, High anterio...	OMIM:619714
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Autoimmune...	ORPHA:77293
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma, Mitr...	OMIM:231005
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join...	OMIM:250250
Somatomammotropinoma	Diabetes mellitus, Palpebral edema, Abnormal fingernail morphology, Dysuria, Elevated circulating...	ORPHA:314769
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Cataract, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Growth delay, N...	OMIM:617913
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyeli...	ORPHA:2396
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Genu recurvatum, Growth delay, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Growth delay, Hypertrophic cardiomyopathy, Conjunctival hyperemia, Highly arched eyebrow	OMIM:619121
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Dislocated radial ...	ORPHA:666
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556037
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hypovo...	ORPHA:275761
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac...	OMIM:232300
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct...	ORPHA:90068
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi...	OMIM:604292
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spl...	ORPHA:2072
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556030
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension	OMIM:264350
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis	OMIM:116920
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Renal Tubular Dysgenesis	Hypotension, Widely patent fontanelles and sutures	OMIM:267430
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Delayed cranial sutu...	OMIM:620005
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schi...	ORPHA:90038
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the...	ORPHA:2306
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Conge...	ORPHA:373
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
Pde4D Haploinsufficiency Syndrome	Joint laxity, Hypotension	ORPHA:439822
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmia, Hematemesis, Leu...	ORPHA:99829
Urachal Cyst	Abdominal mass, Dysuria, Abscess, Pyuria, Leukocytosis, Peritonitis, Hematuria	ORPHA:488
Stickler Syndrome	Joint dislocation, Epicanthus, Telecanthus, Cataract, Short stature, Protrusio acetabuli, Ectopia...	ORPHA:828
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Delayed closure of the a...	OMIM:618460
Classical Ehlers-Danlos Syndrome	Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Di...	ORPHA:287
Distal Deletion 19P	Alopecia, Vaginal hernia, Keloids, Joint hyperflexibility, Umbilical hernia, Thick eyebrow	ORPHA:96129
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi...	OMIM:129900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Renal hypoplasia	OMIM:612918
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint...	OMIM:613795
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Hypocapnia, Abnormal T-wave, Abnormal ...	ORPHA:466650
Lymphatic Malformation 6	Epicanthus, Short stature, Splenomegaly, Hydrocele testis, Cellulitis, Intestinal lymphangiectasi...	OMIM:616843
Poliomyelitis	Stiff neck, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis	ORPHA:2912
Aa Amyloidosis	Hypotension	ORPHA:85445
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Hypothyroidism, Joint laxity, A...	OMIM:619472
Pituitary Apoplexy	Hypertension, Normochromic anemia, Hypotension	ORPHA:95613
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension	OMIM:177735
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ...	OMIM:241080
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Alopecia, Severe short stature, Hydroureter, Abnormally ossified vertebrae, Osteomala...	ORPHA:2636
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Hypotension	ORPHA:95409
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Okamoto Syndrome	Facial hypertrichosis, Omphalocele, Prominent metopic ridge, Urinary incontinence, Splenomegaly, ...	ORPHA:2729
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A...	ORPHA:93317
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level...	ORPHA:90363
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Periodo...	ORPHA:286
Cholera	Tachycardia, Hypovolemic shock, Stroke, Hypotension, Aspiration pneumonia	ORPHA:173
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Retinal hemorrhage, Posterior synechiae of the anterior chamber, Po...	ORPHA:79098
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Urogenital sinus ...	ORPHA:96176
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Hypotension	ORPHA:91349
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Multiple Osteochondromas	Abnormality of the knee, Short stature, Limitation of joint mobility, Abnormal carpal morphology,...	ORPHA:321
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease...	ORPHA:94059
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Microcorn...	ORPHA:199
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Knee dislocation, Hepatic fibrosis, Elevated gamma-glu...	OMIM:619534
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Arthritis, Onychogryposis, ...	OMIM:161700
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Horseshoe kidney, Aplasia of the epiglotti...	OMIM:617088
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Abnormality of ...	ORPHA:43393
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Cryptorchidism, Precocious puberty, Unilateral renal hypoplasia, Patchy alope...	ORPHA:2874
Marfan Syndrome	Aortic regurgitation, Reduced subcutaneous adipose tissue, Cataract, Genu recurvatum, Protrusio a...	OMIM:154700
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Chondrocalcinosis	OMIM:263800
Addison Disease	Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Hypotension...	ORPHA:85138
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Alexander Disease	Osteopenia, Sudden cardiac death, Hypertension, Hypotension, Infectious encephalitis	ORPHA:58
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Progressive flexion contractures, Hypothyroidism, Rheumatoid arthritis	ORPHA:98808
Ramon Syndrome	Short stature, Telangiectasia, Decreased body weight, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,...	ORPHA:365
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Myocarditis, Delayed epiphyseal ossification, Disproportionate short stature, Flat ac...	OMIM:250220
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Prolactinoma	Osteopenia, Osteoporosis, Hypotension	ORPHA:2965
Marfan Syndrome	Osteopenia, Inguinal hernia, Arthralgia/arthritis, Flat cornea, Protrusio acetabuli, Limited elbo...	ORPHA:558
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia	ORPHA:240071
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Congenital hip dislocation, Congenital diaphragm...	OMIM:305600
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Cam...	OMIM:601803
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Hypertension, Pa...	ORPHA:91347
Trichotillomania	Alopecia	OMIM:613229
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Hypertension, Pulmonic stenosis, Small nail, Pulmonary arterial h...	OMIM:100300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension	ORPHA:90791
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Hypovolemia, Hypotension, Reduced bone mineral density	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Hypovolemia, Hypotension, Reduced bone mineral density	ORPHA:289548
Neuroendocrine Neoplasm Of Appendix	Palpitations, Heart murmur, Tricuspid stenosis, Hypotension	ORPHA:100079
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Bartter Syndrome, Type 3	Hypotension	OMIM:607364
Eisenmenger Syndrome	Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ...	ORPHA:97214
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Acne, Hypovolemia, Hypotension, Hypocapnia	ORPHA:90794
Non-Acquired Panhypopituitarism	Osteopenia, Osteoporosis of vertebrae, Hypotension	ORPHA:90695
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Chondrocalcinosis, Impaired platelet aggregation, Low-to-normal blood pressure	OMIM:241200
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Chondrocalcinosis, Low-to-normal blood pressure	OMIM:601678
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Osteoporosis of vertebrae, Hypotension	ORPHA:95494

Histopathology

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

There is no histopathology data for Zfp36

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp36.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Zfp362 potentiates murine colonic inflammation by constraining Treg cell function rather than promoting Th17 cell differentiation.	European journal of immunology (June 2023)	Zfp362^{tm1c(EUCOMM)Wtsi} Zfp362^{tm1a(EUCOMM)Wtsi}	37366299
Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis.	Cells (September 2022)	Zfp365^{tm1a(KOMP)Wtsi}	PMC9497065
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Zfp365^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Zfp365^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Zfp365^{tm1a(KOMP)Wtsi} Zfp367^{tm1a(KOMP)Wtsi} Zfp367^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Zfp365^{tm1a(KOMP)Wtsi} Zfp367^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Zfp365^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Zfp36^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zfp36^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Zfp36^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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