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Gene: Cd44 MGI:88338

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CD44 antigen

Synonyms:

Pgp-1, HERMES, Ly-24

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cd44 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 Cd44 (0 diseases)
Human diseases predicted to be associated with Cd44 (1123 diseases)

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

The table below shows human diseases predicted to be associated to Cd44 by phenotypic similarity.

Disease	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Glycoprotein Storage Disease	Gout	OMIM:232900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag...	OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reac...	OMIM:308240
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus...	OMIM:615707
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia, Reduced natural killer cell activity	OMIM:608898
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615559
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla...	OMIM:619281
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem...	ORPHA:36234
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome...	ORPHA:169160
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Autoinflammation With Infantile Enterocolitis	Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act...	OMIM:616050
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Decreased circulating IgG level, Hepatomegaly, Impaired memory B cell ...	OMIM:308230
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Endove Syndrome, Limb-Only Type	Neonatal sepsis, Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate sho...	OMIM:619217
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Increased circulating IgE level,...	ORPHA:1163
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
L-Ferritin Deficiency	Alopecia	OMIM:615604
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative...	OMIM:617638
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Necrobiosis Lipoidica	Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Microlissencephaly	Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen...	ORPHA:1083
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Secretory diarrhea, Bloody diarrhea, V...	ORPHA:544482
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly	OMIM:300484
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Shigellosis	Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C...	ORPHA:810
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Abnormal pleura morphology, Myocarditis, Abnormal lung morpho...	ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Recurrent respiratory infections, Increased mitochondrial number, Decreased activity of mitochond...	OMIM:619063
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated...	ORPHA:178320
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Sinusitis, Skin rash, Acute otitis media, Lack of T cell functi...	ORPHA:572
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Primary Peritoneal Carcinoma	Peritonitis, Neoplasm, Constipation	ORPHA:168829
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi...	ORPHA:186
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iih	Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating creat...	OMIM:611182
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula...	ORPHA:90117
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr...	ORPHA:397596
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Diarrhea, Elevated circulating creatini...	ORPHA:90038
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun...	OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, B...	OMIM:620282
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali...	OMIM:201170
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Necrotizing Enterocolitis	Hyponatremia, Shock, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Bradycardia, Hypotension	ORPHA:391673
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Ataxi...	OMIM:603553
Ovarian Fibroma	Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car...	ORPHA:314473
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia	OMIM:601457
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au...	OMIM:601859
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Constipation	ORPHA:168816
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Sp...	ORPHA:342
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Malignant Peritoneal Mesothelioma	Peritonitis, Neoplasm, Ileus	ORPHA:168811
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl...	OMIM:209950
Griscelli Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Bo...	ORPHA:381
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Splenomegaly, Recurrent otitis media, Hepatitis	ORPHA:444463
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Immunodeficiency 62	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:618459
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum...	ORPHA:277
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na...	ORPHA:79153
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti...	OMIM:613470
Classic Mycosis Fungoides	Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail	ORPHA:2584
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiad...	OMIM:238970
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Eosinophilopenia	Autoimmunity	OMIM:131430
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Diarrhea, Hematuria, Decreased serum cre...	ORPHA:54057
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T...	ORPHA:264675
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Eiken Syndrome	Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc...	ORPHA:79106
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho...	OMIM:618986
Urachal Cyst	Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Peritonitis, Urachus fist...	ORPHA:488
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Vomiting, Abnormality...	ORPHA:2552
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Whim Syndrome 1	Decreased circulating IgG level, Bronchiectasis, Recurrent upper respiratory tract infections, De...	OMIM:193670
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hem...	ORPHA:228119
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Nausea, Infectiou...	ORPHA:73263
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Fibrosarcoma, Peritonitis, Ovarian fibroma	ORPHA:314478
Listeriosis	Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea, Pyelonep...	ORPHA:533
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Increased circulating IgG level, Increased circulating ...	OMIM:619220
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, Periodontitis...	ORPHA:2686
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, C...	ORPHA:37042
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase co...	OMIM:614921
Agammaglobulinemia, X-Linked	Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit...	OMIM:300755
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Polyhydramnios, Edema, Recurrent upper respir...	OMIM:607143
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Recur...	ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Tularemia	Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increa...	ORPHA:3392
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg...	ORPHA:131
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopa...	ORPHA:292
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Vomiti...	OMIM:619991
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Increased circulating inosine concentration, Sinusitis, Hypouricemia, Impair...	OMIM:613179
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, E...	OMIM:619351
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon...	OMIM:616576
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Alpha-Heavy Chain Disease	Splenomegaly, Alopecia, Anemia	ORPHA:100025
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel...	ORPHA:319218
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti...	OMIM:301082
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy...	ORPHA:85435
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Abnormality of iron homeostasis...	ORPHA:848
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of...	ORPHA:171
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Graft Versus Host Disease	Elevated hepatic transaminase, Myositis, Tachycardia, Fasciitis, Maculopapular exanthema, Pneumon...	ORPHA:39812
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch...	ORPHA:679
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ...	ORPHA:101330
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough...	ORPHA:60033
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Chronic ...	OMIM:617514
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No...	ORPHA:36238
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Slc35A2-Cdg	Osteopenia, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metatarsus adductus, Abnormal ...	ORPHA:356961
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Eosinop...	OMIM:243700
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Melioidosis	Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Hepatomegaly, Portal hypertension, Reduced forced expiratory vo...	OMIM:613385
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Complete Androgen Insensitivity Syndrome	Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing h...	ORPHA:99429
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia	OMIM:258865
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplasia/Hypoplasia ...	ORPHA:2930
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Autoimmunity	OMIM:617006
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:420741
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir...	OMIM:618282
Mullerian Aplasia And Hyperandrogenism	Acne, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia ...	OMIM:158330
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard...	ORPHA:139402
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Increased mean platelet volume	OMIM:617443
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Sclerosing cholangitis, Abnormal B cell prol...	OMIM:619652
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti...	ORPHA:97244
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,...	OMIM:615578
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In...	OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,...	OMIM:127550
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp...	OMIM:214500
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circul...	OMIM:615846
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer...	ORPHA:83471
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona...	OMIM:612964
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Wiskott-Aldrich Syndrome	Epistaxis, Eczema, Increased circulating IgA level, Hematemesis, Reduced natural killer cell acti...	OMIM:301000
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ...	OMIM:616100
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Bronchitis, Colitis, Hypoalbuminemia, Pust...	OMIM:619381
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculi...	ORPHA:1572
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia...	ORPHA:276
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased c...	OMIM:618394
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Polyhydramnios, Abnormality of the humerus, ...	ORPHA:56305
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper respiratory t...	OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota...	OMIM:614878
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Sézary Syndrome	Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Nail dystrophy	ORPHA:3162
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal...	ORPHA:85450
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr...	OMIM:619705
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Psoriasiform dermatitis, Enterocolitis, Decreased circulating a...	OMIM:243150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta...	OMIM:618523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
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
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism	OMIM:300510
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233710
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert...	OMIM:203800
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Omenn Syndrome	Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l...	ORPHA:39041
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Vomiting, Increased blood urea nitro...	OMIM:617872
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,...	ORPHA:3261
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In...	ORPHA:340
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233690
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number, Recurrent infections	ORPHA:352447
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, H...	ORPHA:26793
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Satoyoshi Syndrome	Abnormality of the knee, Abnormal hair morphology, Abnormal joint morphology, Hypoplasia of the u...	ORPHA:3130
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemorrhage, Uveitis, Hep...	ORPHA:319251
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Neoplasm, Vomiting, Cirrhosis, Prostatitis	ORPHA:1546
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,...	OMIM:604416
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, Tubulointerstitial n...	ORPHA:289390
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid...	ORPHA:49041
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Vertical Talus, Congenital	Arthritis	OMIM:192950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea...	OMIM:242860
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d...	OMIM:613990
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Nocardiosis	Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy...	ORPHA:31204
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom...	ORPHA:730
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail	ORPHA:317
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan...	OMIM:208085
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc...	ORPHA:263297
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia	OMIM:615387
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Hypertension, Portal ...	OMIM:619111
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Jaundice, Diarrhea...	ORPHA:91547
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Polyhydramnios, Lymphedema, Dumbbel...	ORPHA:3144
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Bronchiectasis, Impaired Ig class sw...	OMIM:608184
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate...	ORPHA:167
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ...	OMIM:601005
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom...	OMIM:612736
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Decreas...	ORPHA:227990
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Elevated circulating creatinine concentration, Abnormal renal cort...	OMIM:616733
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-induced platelet a...	OMIM:608233
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,...	ORPHA:509
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Raynaud phenomenon, Chorea, Vasculitis, Hepatitis, Hypertension, Arthritis,...	ORPHA:1855
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Meier-Gorlin Syndrome 7	Urethral stricture, Hypospadias, Heart block, Second degree atrioventricular block, Vesicouretera...	OMIM:617063
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613807
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Tachypnea, Hepatitis, ...	ORPHA:415
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Decreas...	ORPHA:227982
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Vomiting, Macrovesicula...	OMIM:608836
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c...	ORPHA:99829
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor...	ORPHA:1988
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Portal hypertensio...	ORPHA:79124
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Patent ductus arteriosus, Diarrhea, Elevated circulating creatinine concentration, ...	OMIM:608104
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr...	OMIM:615952
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,...	OMIM:614837
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Hypoplasia of the uterus, Facial hirsutism, Cubi...	ORPHA:247768
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Dilated cardiomyopathy	OMIM:602541
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Pain insensitivity, Skin rash,...	ORPHA:90062
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co...	OMIM:308300
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphy...	ORPHA:96334
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Cheilitis,...	OMIM:615468
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Wilson Disease	Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice...	OMIM:277900
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Vasculitis, Arthritis, ...	ORPHA:91138
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti...	ORPHA:319552
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Nodular regenerative hyperplasia ...	ORPHA:247691
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Chorea, Knee os...	ORPHA:1304
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Jaundic...	OMIM:274150
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon...	OMIM:615482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop...	OMIM:614841
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Hypersplenism, High-output congestive heart failure, Dyspnea, Dilated c...	ORPHA:231226
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, ...	OMIM:263520
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Right ventricular failure, Nonproductive cough,...	ORPHA:97287
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:306400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Recurrent upper respirato...	ORPHA:391487
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Pneu...	ORPHA:2968
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	ORPHA:79242
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Myasthenia Gravis	Myositis, Raynaud phenomenon, Dyspnea, Hepatitis, Paresthesia, Rheumatoid arthritis, Hashimoto th...	ORPHA:589
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Elevated circul...	ORPHA:230
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Gaucher Disease	Hepatomegaly, Osteomyelitis, Ataxia, Elevated circulating C-reactive protein concentration, Splen...	ORPHA:355
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth...	ORPHA:85414
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R...	ORPHA:3260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Increased ci...	OMIM:602450
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Ren...	OMIM:614376
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu...	OMIM:617925
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Cirrhosis, Familial	Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, Hypertension, Increased...	OMIM:215600
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ...	ORPHA:411634
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Hyp...	ORPHA:199299
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Diarrhea, Elevated circulating creatinine concentration, Hy...	OMIM:223900
Estrogen Resistance	Osteopenia, Acne, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula...	OMIM:258315
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope...	ORPHA:974
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin...	OMIM:618250
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc...	OMIM:235400
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H...	ORPHA:228426
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Cholestatic liver disease	ORPHA:440713
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abn...	OMIM:612387
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Alopecia, Low posterior hairline, Microcytic anemia	ORPHA:2959
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Roifman Syndrome	Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev...	ORPHA:353298
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Mccune-Albright Syndrome	Hepatitis, Cholestasis, Hepatocellular adenoma, Paresthesia, Bone marrow hypocellularity, Hypopho...	ORPHA:562
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Bloody diarrhea, Hypoalbuminemia, Vo...	ORPHA:99826
Immunodeficiency 23	Recurrent respiratory infections, Somatic sensory dysfunction, Membranoproliferative glomerulonep...	OMIM:615816
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, Abnormal heart rate...	ORPHA:70588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration	OMIM:253700
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Ataxia	OMIM:619971
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp...	ORPHA:432
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia...	OMIM:166740
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Sinusitis, Ataxia, Recurrent bronch...	OMIM:208900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair	OMIM:607626
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia...	OMIM:158310
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Increased circulating...	OMIM:616005
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia	ORPHA:1867
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Choreoathetosis, Decreased activity of NADPH oxidas...	ORPHA:431361
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Dyspnea, He...	ORPHA:728
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Pgm3-Cdg	Increased circulating IgG level, Chronic otitis media, Membranoproliferative glomerulonephritis, ...	ORPHA:443811
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Tachycardia, Increased circulating lactate dehydroge...	ORPHA:94093
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Simplified gyral pattern, Aspir...	OMIM:618253
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Constipation, Decreased serum crea...	OMIM:618885
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Recurrent pharyngitis...	ORPHA:2331
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, J...	ORPHA:275
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Alopecia, Nail dystrophy, Anemia	OMIM:175500
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Hypoplasia of the uterus, Bicornuate uter...	OMIM:615300
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Respiratory failure, Inter...	ORPHA:330021
Lichen Planopilaris	Hepatitis	ORPHA:525
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, Nail dystrophy...	ORPHA:293978
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A...	ORPHA:2357
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Estrogen Resistance Syndrome	Osteopenia, Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Delayed epiphyseal ...	ORPHA:785
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D...	OMIM:617092
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, Femoral bowing, Abnormal...	OMIM:274000
Satoyoshi Syndrome	Alopecia, Osteolytic defects of the phalanges of the hand, Genu valgum, Hypoplasia of the uterus,...	OMIM:600705
Bloom Syndrome	Skin rash, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Che...	ORPHA:125
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough	ORPHA:1334
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, E...	ORPHA:319213
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Re...	OMIM:154230
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Somatic sensory dysfunction,...	ORPHA:83597
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Hemochromatosis, Type 1	Splenomegaly, Alopecia	OMIM:235200
Caffey Disease	Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon...	OMIM:114000
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypopl...	OMIM:108720
Good Syndrome	Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ...	ORPHA:169105
Mixed Connective Tissue Disease	Splenomegaly, Leukopenia, Alopecia, Hemolytic anemia	ORPHA:809
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Alopecia, Nail dystrophy, Anemia	OMIM:226600
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
Mucopolysaccharidosis Type 7	Splenomegaly, Recurrent respiratory infections, Hepatitis, Abnormal pleura morphology	ORPHA:584
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Sickle Cell Anemia	Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con...	ORPHA:232
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Tibial Hemimelia	Absent tibia	OMIM:275220
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Hypoplasia of the ulna, Early ossification of capital femoral e...	OMIM:208500
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, Decreas...	ORPHA:221139
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Diffuse Alveolar Hemorrhage	Hematuria, Pulmonary venous hypertension, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Ataxia, Polymicrogyria, Recurrent aspira...	ORPHA:79243
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Chronic diarrhea, Diarrh...	OMIM:260920
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ...	OMIM:269200
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, As...	ORPHA:79264
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion	ORPHA:3109
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ...	ORPHA:2298
Mogs-Cdg	Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism	ORPHA:79330
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Abnormal cortical gyration, Impaired T cell function, Splenomegaly, Decreased speci...	OMIM:614576
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy, Anemia	OMIM:620040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormality of neutrophils...	ORPHA:1775
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Abnormal mitochondrial shape, Decreased activity of mitochondri...	ORPHA:17
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Anemia	ORPHA:2315
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Cholera	Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypovolemic shock, Hypoka...	ORPHA:173
H Syndrome	Abnormal eyebrow morphology, Alopecia, Microcytic anemia, Hypertrichosis, Hepatosplenomegaly, His...	ORPHA:168569
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Mitral regurgitation, Aspi...	OMIM:619167
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Dyspnea, Iridocyclitis, Splenomegaly, Bronchiecta...	OMIM:181000
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:168558
Seckel Syndrome 7	Hypoplasia of the uterus, Abnormal carpal morphology, Madelung deformity	OMIM:614851
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Thrombocytopenia, Hy...	OMIM:263700
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, ...	ORPHA:95232
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Ataxia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:289548
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Truncus arteriosu...	OMIM:617478
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelit...	ORPHA:811
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Alopecia	ORPHA:98907
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Mastocytosis, Arrh...	ORPHA:2135
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph...	ORPHA:464
Limb-Mammary Syndrome	Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr...	ORPHA:69085
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes	OMIM:137940
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis...	ORPHA:486
Rothmund-Thomson Syndrome	Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Neutropenia, Spa...	ORPHA:2909
Bresek Syndrome	Alopecia	ORPHA:85284
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Thro...	ORPHA:1830
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Polyhydramnios, Micro...	OMIM:600383
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Colchicine Poisoning	Alopecia, Leukocytosis	ORPHA:31824
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Pteryg...	OMIM:305000
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Campomelic Dysplasia	Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h...	OMIM:114290
Celiac Disease, Susceptibility To, 1	Alopecia, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Gm1 Gangliosidosis	Recurrent respiratory infections, Ataxia, Congestive heart failure, Patent ductus arteriosus, Spl...	ORPHA:354
Leigh Syndrome	Alopecia, Neutropenia, Frontal hirsutism, Anemia, Hypertrichosis	ORPHA:506
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Keutel Syndrome	Alopecia	ORPHA:85202
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Trichotillomania	Alopecia	OMIM:613229
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Ataxia	ORPHA:204
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Hydrolethalus Syndrome 1	Accessory spleen, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydac...	OMIM:236680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Parathyroid hypopl...	ORPHA:2237
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Small nail	ORPHA:166035
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Systemic Lupus Erythematosus	Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Fumarase Deficiency	Polycythemia, Mitochondrial swelling, Lissencephaly, Polymicrogyria	OMIM:606812
Biotinidase Deficiency	Splenomegaly, Alopecia	OMIM:253260
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Meckel Syndrome 12	Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Antecubital pterygium, Vaginal atresia	OMIM:616258
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Thymoma	Myositis, Autoimmunity, Glomerulonephritis, Anti-acetylcholine receptor antibody positivity, Ulce...	ORPHA:99867
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of...	ORPHA:37
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:221008
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Craniosynostosis, Abnormal reproductive system morphology, Sparse eyebrow, ...	ORPHA:1521
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Mirage Syndrome	Hyponatremia, Patent ductus arteriosus, Hyperkalemia, Intracranial hemorrhage, Aspiration pneumon...	OMIM:617053
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Adrenoleukodystrophy	Alopecia	OMIM:300100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Low anterior hairline, Aplasia of the thymus	OMIM:618223
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,...	ORPHA:3132
Vici Syndrome	Hypopigmentation of hair, Albinism, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proport...	OMIM:242840
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Sparse eyelashes	OMIM:610768
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Gastroesophageal reflux, Intrah...	OMIM:619534
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Kikuchi-Fujimoto Disease	Alopecia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Ataxia, As...	ORPHA:35069
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Congenital pulmonary airway malformation, Abnormal ductus cho...	ORPHA:436252
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:221016
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Recurrent respiratory infections,...	ORPHA:980
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Oeis Complex	Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female...	OMIM:258040
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Dysme...	ORPHA:845
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl...	OMIM:253200
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Alopecia, Onychogryposis, Anemia	ORPHA:79396
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t...	OMIM:271520
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Impaired distal vibration sensation, Impaired proprioception, Dy...	ORPHA:99027
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H...	ORPHA:64
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Ane Syndrome	Alopecia	ORPHA:157954
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Ataxia, Pneumonia, Respiratory tract infection, Pustule, Arrhythm...	ORPHA:68
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t...	ORPHA:79138
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Pneumonia, Splenomegaly	ORPHA:169090
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Sagittal c...	OMIM:218330
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia	ORPHA:90153
Fanconi Anemia, Complementation Group F	Pneumonia, Patent ductus arteriosus, Bone marrow hypocellularity	OMIM:603467
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu...	ORPHA:79404
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy	OMIM:614008
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Pneumonia	ORPHA:90790
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis	OMIM:619321
X-Linked Dystonia-Parkinsonism	Chorea, Aspiration pneumonia	ORPHA:53351
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Micromelia, Microgn...	ORPHA:2753
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Polyhydramnios, Micrognathia, Craniofacial osteoscler...	OMIM:300373
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Giant Cell Arteritis	Alopecia	ORPHA:397
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow, Sparse pub...	OMIM:618419
Marshall-Smith Syndrome	Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Macrogyria, Premat...	OMIM:602535
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism	ORPHA:189427
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon...	OMIM:263650
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus, Joint...	ORPHA:457284
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ataxia, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pne...	OMIM:301072
Meckel Syndrome 14	Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus	OMIM:619879
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Ataxia, Pneumonia, H...	ORPHA:309282
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Sparse body hair	ORPHA:548
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt...	ORPHA:3464
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Athetosis, Blepha...	ORPHA:280633
Chops Syndrome	Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, ...	OMIM:616368
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Ataxia, Respiratory tract infection, Splenomega...	ORPHA:581
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ...	OMIM:614527
Woodhouse-Sakati Syndrome	Alopecia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallop...	OMIM:241080
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Degcags Syndrome	Hepatomegaly, Tachycardia, Pneumonia, Patent ductus arteriosus, Asthma, Cholestasis, Hepatospleno...	OMIM:619488
Plague	Respiratory distress, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Hematemesis, Lymphadenit...	ORPHA:707
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Polyhydramnios, Micrognathia, Absent radius, Shor...	OMIM:214800
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Systemic Sclerosis	Alopecia, Nail bed telangiectasia	ORPHA:90291
Sarcoidosis	Hemolytic anemia, Alopecia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocyto...	ORPHA:797
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Aspiration pneumonia	OMIM:616430
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin...	ORPHA:79474
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Niemann-Pick Disease Type C	Hepatomegaly, Ataxia, Low cholesterol esterification rate, Splenomegaly, Abnormal lung morphology...	ORPHA:646
Biotinidase Deficiency	Alopecia	ORPHA:79241
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Kinsship Syndrome	Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia	OMIM:230900
Autosomal Recessive Robinow Syndrome	Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Hypermobility of distal i...	OMIM:130050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration...	ORPHA:1018
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level, Highly arched eyebrow, Sparse...	OMIM:110100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail	OMIM:308050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Micropenis, Hypospadias, Cryptorchidism, Humero...	OMIM:201750
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair	ORPHA:363958
Chronic Graft Versus Host Disease	Alopecia, Pancytopenia, Onycholysis, Nail dystrophy	ORPHA:99921
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p...	OMIM:619482
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Pain insensitivity, Somatic sensory dysfunction, Impaired temperature s...	ORPHA:642
Coffin-Siris Syndrome	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Simplified gyral pattern,...	ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri...	ORPHA:353281
Xeroderma Pigmentosum	Alopecia	ORPHA:910
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Patent ductus arteriosus, Asthma, Aspiration pneumonia, Tracheomalacia,...	ORPHA:444077
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia...	OMIM:308205
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Aplasia of the uterus, ...	OMIM:618280
Coffin-Siris Syndrome 1	Joint laxity, Sparse scalp hair, Thick eyebrow, Dry hair, Hypospadias, Aplasia/Hypoplasia of the ...	OMIM:135900
Loeys-Dietz Syndrome	Joint dislocation, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Uterine rup...	ORPHA:60030
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Wolf-Hirschhorn Syndrome	Vertebral fusion, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Hip dis...	OMIM:194190
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Ataxia, Reduc...	ORPHA:79318
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Highly arched eyebrow, Elevated circulating luteini...	ORPHA:572333
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri...	ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:881
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Alopecia universalis	ORPHA:158668
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of the...	ORPHA:567
Okamoto Syndrome	Prominent metopic ridge, Bifid uterus, Extension of hair growth on temples to lateral eyebrow, Fa...	ORPHA:2729
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Patent ductus arteriosus, ...	ORPHA:438213
Neu-Laxova Syndrome 1	Bifid uterus, Absent eyelashes, Cryptorchidism, Camptodactyly, Pterygium, Joint contracture of th...	OMIM:256520
Viss Syndrome	Sparse scalp hair, Alopecia, Hypereosinophilia, Hirsutism	OMIM:619472
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture...	ORPHA:286
African Trypanosomiasis	Splenomegaly, Alopecia, Hepatosplenomegaly	ORPHA:3385
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys...	ORPHA:740
Digeorge Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,...	OMIM:188400
Alobar Holoprosencephaly	Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira...	ORPHA:220386
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Congenital hip dislocation, Sparse eyela...	OMIM:601803
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia, Ataxia	ORPHA:501
Behcet Syndrome	Patchy alopecia	OMIM:109650
Doors Syndrome	Respiratory distress, Polymicrogyria, Aspiration pneumonia	ORPHA:79500
Norrie Disease	Cryptorchidism, Uterine rupture	ORPHA:649
Yunis-Varon Syndrome	Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension, Pachygyria	OMIM:216340

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 Cd44

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 Cd44.

No publications found that use IMPC mice or data for Cd44.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cd44^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cd44^em2(IMPC)H	Exon Deletion	Mice
Cd44^em1(IMPC)H	Exon Deletion	Mice

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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