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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 (1166 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	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 116	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
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Glycoprotein Storage Disease	Gout	OMIM:232900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy	OMIM:618806
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	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, Reduced proportion of mucosal-associated invariant T cells, Part...	OMIM:615897
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp 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	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Barth Syndrome	Abnormality of neutrophils, Dilated cardiomyopathy, Abnormal mitochondrial morphology	ORPHA:111
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Hepat...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc...	OMIM:300635
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Immune Thrombocytopenia	Platelet antibody positive	OMIM:188030
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Vasculitis, Decreased circulating IgG level, Hepatic failure, Decreased circulat...	OMIM:308240
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation	ORPHA:499
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease...	ORPHA:169154
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Decreased ...	OMIM:618378
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent upper respiratory tract infections, Recurrent otitis media, Elevated circulating aspart...	OMIM:615559
Immunodeficiency 20	Recurrent otitis media, Recurrent viral upper respiratory tract infections, Recurrent sinusitis, ...	OMIM:615707
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity	OMIM:609529
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Fibular Hemimelia	Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Structural foot d...	ORPHA:93323
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Bacterial Toxic-Shock Syndrome	Diarrhea, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Eleva...	ORPHA:36234
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Skin ...	OMIM:616050
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos...	OMIM:226990
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Oliguria, Uveitis, Epistaxis, Congestive heart...	ORPHA:727
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia	OMIM:266265
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Systemic Lupus Erythematosus 17	Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu...	ORPHA:1972
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Decreased circulating IgE, Impaired memory B cell generation, He...	OMIM:308230
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Acute kidney injury, Diarrhea, Vomiting, Increase...	ORPHA:542323
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr...	OMIM:607594
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co...	ORPHA:33110
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Hepatitis, Em...	ORPHA:60
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Elevated cir...	ORPHA:2137
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
L-Ferritin Deficiency	Alopecia	OMIM:615604
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lymphoma, Hematological neoplasm, Acute myeloid l...	ORPHA:158057
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis, Increased circulating antibody level	OMIM:247800
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Microlissencephaly	Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss...	ORPHA:1083
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma	ORPHA:542592
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Hyperkalemia, Abnormal circulating chemokine concentration, Acute kidney injury, Anuria...	ORPHA:544482
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly	OMIM:300484
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration	ORPHA:930
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Decreased circulating total IgM, Telangiectases of ...	OMIM:615139
Shigellosis	Urethritis, Cholestasis, Abnormal blood ion concentration, Bloody mucoid diarrhea, Acute kidney i...	ORPHA:810
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab...	ORPHA:178320
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Chronic mucocutaneous candidiasis, Rec...	ORPHA:572
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Familial Mediterranean Fever	Diarrhea, Renal amyloidosis, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Splenomegaly, ...	OMIM:249100
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Legionnaires Disease	Ataxia, Bone marrow hypocellularity, Hypotension, Hepatitis, Abnormal pleura morphology, Splenome...	ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Recurrent respiratory infections, Decreased activity of mitochond...	OMIM:619063
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Skin rash, Hypocalcemia,...	ORPHA:47
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Interface hepatitis, Elevated circ...	OMIM:611182
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o...	ORPHA:70578
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si...	ORPHA:397596
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Acrofacial Dysostosis Syndrome Of Rodriguez	Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Primary Peritoneal Carcinoma	Peritonitis, Constipation, Neoplasm	ORPHA:168829
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Elevated circulating hepatic transaminase concentration, Increased circu...	OMIM:603553
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c...	ORPHA:90038
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex...	ORPHA:98848
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El...	OMIM:613812
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,...	OMIM:601859
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Dilated card...	ORPHA:3243
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abnormality of the kidney, Erythema nodosum, Increa...	ORPHA:228123
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c...	OMIM:618459
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Ovarian Fibroma	Ovarian fibroma, Peritonitis, Odontogenic keratocysts of the jaw, Mesenteric cyst, Basal cell car...	ORPHA:314473
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Respiratory tract infection, Hepatitis, Splenomegaly	ORPHA:444463
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Neoplasm	ORPHA:168816
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Skin rash, Intestinal obstruction...	ORPHA:32960
Eosinophilopenia	Autoimmunity	OMIM:131430
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Splenomegaly, A...	ORPHA:381
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Necrotizing Enterocolitis	Hypotension, Vomiting, Diarrhea, Shock, Hyponatremia, Peritonitis, Bradycardia, Bloody diarrhea	ORPHA:391673
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir...	ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Simple Cryoglobulinemia	Nephritis, Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Spon...	ORPHA:91139
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai...	OMIM:613470
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Neoplasm	ORPHA:168811
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Splenomegaly, Alopecia, Abnormality of the nail	ORPHA:2584
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Sa...	OMIM:209950
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Decreased liver function, Hyperornithinemia, Hyperammonemia, Dysmet...	OMIM:238970
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac...	OMIM:241600
Fibrodysplasia Ossificans Progressiva	Anemia, Alopecia	ORPHA:337
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Diarrhea, Erysipelas, Skin rash, Intestinal obstructio...	ORPHA:342
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Increased circulating IgG level, Recurrent lowe...	OMIM:619220
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Zygomycosis	Diarrhea, Pustule, Hematological neoplasm, Acute infectious pneumonia, Endocarditis, Gastrointest...	ORPHA:73263
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Decreased...	ORPHA:54057
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati...	ORPHA:79095
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:193670
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Fusariosis	Pneumonia, Keratitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Osteomyelit...	ORPHA:228119
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Listeriosis	Arteritis, Diarrhea, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Periton...	ORPHA:533
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Short tibia, Sanda...	OMIM:607143
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Barth Syndrome	Recurrent infections in infancy and early childhood, Dilated cardiomyopathy, Congestive heart fai...	OMIM:302060
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Q Fever	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteom...	ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop...	OMIM:618935
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Urachal Cyst	Neoplasm, Hematuria, Peritonitis, Urachus fistula, Elevated circulating C-reactive protein concen...	ORPHA:488
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Diffuse leiomyomatosis, Fibrosarcoma	ORPHA:314478
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t...	ORPHA:436159
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Hepatic failure, Elevated circulati...	OMIM:214950
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si...	ORPHA:217390
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Cyclic Neutropenia	Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Recurrent s...	ORPHA:2686
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Cholecystitis, Intestinal obstruc...	ORPHA:131
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Alpha-Heavy Chain Disease	Anemia, Alopecia, Splenomegaly	ORPHA:100025
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent o...	OMIM:300755
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat...	OMIM:614921
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Oligohydramnios, Humeroradial ...	OMIM:251230
Immunodeficiency 102	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Nodular regenerati...	OMIM:301082
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Paraproteinemia, ...	ORPHA:439232
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Recurrent sinusiti...	OMIM:616576
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating...	ORPHA:48435
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Pleural ef...	ORPHA:292
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Somatic sensory dysfunction, Distal sensory i...	ORPHA:90117
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra...	OMIM:607765
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Perito...	OMIM:619351
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Cutaneous abs...	ORPHA:101330
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Increased circulating interleukin 10 concentration, Portal inflammation	OMIM:613759
Complete Androgen Insensitivity Syndrome	Acne, Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of f...	ORPHA:99429
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive	ORPHA:79099
Tularemia	Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased circulating an...	ORPHA:3392
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Shock, Abnormality of the...	ORPHA:31202
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair	ORPHA:1882
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai...	OMIM:617237
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Abnormality of the lower urinary tract, ...	ORPHA:679
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Hepatitis, Increased circulating antibody level, Melena, Maculopapul...	ORPHA:319218
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Epistaxis, Increased circulating interleukin 8...	OMIM:620514
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Autoimmunity	OMIM:617006
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnormality o...	ORPHA:848
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti...	ORPHA:319552
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Acne, Abn...	OMIM:158330
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia	OMIM:258865
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Decreased circulating IgA level, Hypersplenism, Portal hypertension, Splenomegaly, Has...	OMIM:613385
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp...	ORPHA:2930
Bleeding Disorder, Platelet-Type, 21	Alopecia, Thrombocytopenia, Increased mean platelet volume	OMIM:617443
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P...	OMIM:307200
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope...	OMIM:127550
Omenn Syndrome	Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph...	OMIM:603554
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Recurrent upper respiratory tract infections, Ataxia, Decreased lymphocy...	OMIM:613179
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth...	ORPHA:85410
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Increased ...	OMIM:615846
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu...	OMIM:620321
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, R...	ORPHA:294
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Hypo...	ORPHA:83471
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
Chediak-Higashi Syndrome	Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit...	OMIM:304790
Wiskott-Aldrich Syndrome	Epistaxis, Inflammation of the large intestine, Recurrent upper respiratory tract infections, Rec...	OMIM:301000
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Splenomegaly, C...	OMIM:618394
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I, Macrocytic anemia,...	OMIM:615578
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Reduced delayed hypersensitivity, Malar rash, Autoimmune hemolytic anemia, Splenomegal...	OMIM:603909
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Elevated circulating C-re...	OMIM:619381
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, D...	OMIM:606367
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's di...	OMIM:619705
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating ferritin concentration, ...	OMIM:614034
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Recurr...	OMIM:618523
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Alopecia, Nail dystrophy	ORPHA:3162
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Congenital pulmonary airway malformation, Psoriasiform dermatitis, Interface hepati...	OMIM:243150
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Acute tubulointerstitial nephriti...	ORPHA:340
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc...	ORPHA:98850
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Hypersplenism, Increased circulating antibody level, Increased c...	ORPHA:3261
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased c...	OMIM:619752
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal...	ORPHA:85450
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:276
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism	OMIM:300510
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Bronchiectasis, Elevated circulating hepatic transaminase concentration, E...	ORPHA:1572
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t...	OMIM:277000
Immunodeficiency 115 With Autoinflammation	Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly	OMIM:620632
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu...	OMIM:152700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Decrease...	OMIM:614700
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Omenn Syndrome	Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Aplasia/Hypop...	ORPHA:39041
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Recurrent infections, Dilated cardiomyopathy, Decreased mitochondrial number, Arrhythmia	ORPHA:352447
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr...	ORPHA:263297
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Rigid Spine Syndrome	Pneumonia, Cardiac conduction abnormality	ORPHA:97244
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Hepati...	ORPHA:905
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
Alopecia-Intellectual Disability Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:2850
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Combined Oxidative Phosphorylation Deficiency 34	Vomiting, Elevated circulating creatinine concentration, Hepatic steatosis, Increased blood urea ...	OMIM:617872
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Nail dysplasia	OMIM:212360
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Elevated circulating carcinoembryonic antigen concentration, Abnormal circu...	ORPHA:264675
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ov...	ORPHA:3130
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Abnormality of the...	ORPHA:275555
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti...	OMIM:604416
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Decreased circulating IgA level, Chronic bronchitis, Sinusitis, Increased circulating ...	OMIM:242860
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Cryptococcosis	Pneumonia, Vomiting, Osteomyelitis, Neoplasm, Peritonitis, Prostatitis, Cirrhosis, Lymphoid leukemia	ORPHA:1546
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutropenia	OMIM:615387
Vertical Talus, Congenital	Arthritis	OMIM:192950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Acne inversa, Panniculitis, Elevated circulating C-reactive protein conce...	OMIM:608068
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Elevat...	ORPHA:36238
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Abnormality of the nail, Generalized hirsutism	ORPHA:317
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu...	ORPHA:723
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Nocardiosis	Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Liver abscess, Keratitis, Osteomyelitis, I...	ORPHA:31204
Primary Sjögren Syndrome	Arteritis, Chronic hepatitis, Lymphocytic interstitial pneumonia, Increased circulating antibody ...	ORPHA:289390
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Elevated circulating C-reactive protein...	ORPHA:49041
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Osteomyelitis, Recurrent upper respiratory tract infectio...	OMIM:608184
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Hypocalcemia, Pulmonary arterial hypertension, Ven...	OMIM:601005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ...	ORPHA:85414
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepatomegaly, Increased...	OMIM:618495
Relapsing Fever	Epistaxis, Acute kidney injury, Diarrhea, Abnormality of the urinary system, Vomiting, Hypotensio...	ORPHA:91547
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of...	OMIM:500013
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Lymphedema, Fibular hypoplasia, Short ribs, H...	ORPHA:3144
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis	OMIM:614602
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Jaundice, Acute kidney injury, Anuria, Shoc...	ORPHA:99829
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Cholecystitis, Increased seru...	ORPHA:69665
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr...	ORPHA:60033
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pancytopenia, Leukopenia, Nail d...	OMIM:613990
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Hyperechogenic kidneys, Elevated circulating creatinine concen...	OMIM:619111
Chédiak-Higashi Syndrome	Iris hypopigmentation, Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnorma...	ORPHA:167
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Inflammatory abnormality of the skin, Dilated cardiomyopathy, ...	ORPHA:26793
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614837
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227990
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Episodic vom...	OMIM:612736
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Periodontitis, Recurrent otitis media, Hepatosplenomegaly, Impaired ADP-indu...	OMIM:608233
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ...	ORPHA:94059
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes	OMIM:615704
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, Macrovesicular hepatic ste...	OMIM:608836
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Elevated circulating creatinine concentration, Abnormal renal corticomedullary diff...	OMIM:616733
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo...	OMIM:618131
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Hepatitis, Chorea, Skin rash, Raynaud phenomenon, Arthritis, Juvenile rheu...	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Vomiting, Diarrhea, Cholestasis, Elevated circulating creatinine concentration, ...	OMIM:608104
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Vesicoureteral reflux, Urethral stricture, Meconium periton...	OMIM:617063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Increased b...	ORPHA:231111
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227982
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa...	ORPHA:247768
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:79124
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy...	OMIM:306400
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Gaucher Disease	Ataxia, Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating fer...	ORPHA:355
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi...	OMIM:619436
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Keratoconjunctiv...	ORPHA:91138
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Leptospirosis	Uveitis, Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Elevated seru...	ORPHA:509
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Pneumonia, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculature, Nodu...	ORPHA:247691
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ...	OMIM:263520
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Hepatitis, Abnormal pulmonary interstitial morphology, Congestive he...	ORPHA:2331
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatic failure, Elevated circulating hepatic transaminase concentr...	ORPHA:415
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	ORPHA:79242
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Dilated cardiomyopathy	OMIM:602541
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter...	OMIM:301220
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia	OMIM:203550
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Hepatosplenomegaly, Hypersplenism, High-output congesti...	ORPHA:231226
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Jaundice, Pulmonary arterial hypertension, Cirrhosis, ...	OMIM:215600
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Transient ischemic atta...	OMIM:274150
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule...	ORPHA:69126
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica...	OMIM:617925
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm...	OMIM:601495
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Increased circ...	OMIM:602450
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Estrogen Resistance	Osteopenia, Breast aplasia, Polycystic ovaries, Hypoplasia of the uterus, Acne	OMIM:615363
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Vomiting, Diarrhea, Abnormal EKG, Elevated ...	ORPHA:230
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Leukocyte Adhesion Deficiency	Pneumonia, Recurrent urinary tract infections, Vaginitis, Osteomyelitis, Recurrent aphthous stoma...	ORPHA:2968
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Vomiting, Diarrhea, Gastroesophageal reflux, Elevated circulating creatinine concentration, Const...	OMIM:223900
Adams-Oliver Syndrome	Alopecia, Hypoplastic fingernail, Leukopenia, Aplastic/hypoplastic toenail, Thrombocytopenia, Spa...	ORPHA:974
Pediatric Systemic Lupus Erythematosus	Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:93552
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase...	OMIM:203800
Late-Onset Isolated Acth Deficiency	Hypotension, Hepatitis, Hyperuricemia, Hashimoto thyroiditis, Hyponatremia, Orthostatic hypotensi...	ORPHA:199299
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef...	ORPHA:97292
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Paresthesia, Myositis, Hashimoto thyroiditis, Raynaud phenomenon	ORPHA:589
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Abnormal lymphocyte morphology, Nail dystrophy, Abnormality of the pe...	ORPHA:293978
Progeria-Short Stature-Pigmented Nevi Syndrome	Low posterior hairline, Alopecia, T lymphocytopenia, Microcytic anemia	ORPHA:2959
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Ataxia	OMIM:619971
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos...	ORPHA:228426
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Male hypogonadism, Sparse body hair, Non-obstructive azoospermia, Decreased testicula...	ORPHA:432
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Diarrhea, Anuria, Elevated circulating creatinine concentration, Hyperlipide...	OMIM:235400
Immunodeficiency 23	Allergic rhinitis, Ataxia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Somatic sens...	OMIM:615816
Occipital Horn Syndrome	Osteomalacia, Humerus varus, Genu valgum, Esophagitis, Pes planus, Abnormal fibula morphology, Hi...	ORPHA:198
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Marburg Hemorrhagic Fever	Diarrhea, Increased circulating antibody level, Jaundice, Tachycardia, Shock, Elevated circulatin...	ORPHA:99826
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Portal fibrosis, Eczemato...	ORPHA:3260
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Eosinophi...	OMIM:158310
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hepatitis, Cholestasis, Paresthesia, Hypophosphatemia, Pancreatitis,...	ORPHA:562
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Decreased activity of mitochondrial complex I, Mitocho...	OMIM:618250
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:616005
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ...	OMIM:277900
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy...	OMIM:123550
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Femoral bowing, Tibia...	OMIM:166740
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair	ORPHA:1839
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern	ORPHA:1867
Isolated Sedoheptulokinase Deficiency	Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease	ORPHA:440713
Ataxia-Telangiectasia	Ataxia, Decreased circulating IgG level, Progressive cerebellar ataxia, Defective B cell differen...	OMIM:208900
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Decreased circul...	ORPHA:29073
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Breast hypoplasia, Enlarged polycystic ovaries, Incr...	ORPHA:785
Renpenning Syndrome	Thin eyebrow, Alopecia, Abnormal hairshaft morphology	ORPHA:3242
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon...	ORPHA:94093
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi...	ORPHA:431361
Pgm3-Cdg	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Bone marrow hypocellul...	ORPHA:443811
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased serum creatinine, Constipation, Decreased HDL cholesterol concentr...	OMIM:618885
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Acute Liver Failure	Pain insensitivity, Hypotension, Gastrointestinal hemorrhage, Elevated circulating hepatic transa...	ORPHA:90062
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice	ORPHA:464370
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Reduced sperm motility, Recurrent resp...	OMIM:612649
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu...	ORPHA:2032
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Nail dysplasia, Alopecia, Nail dystrophy	OMIM:175500
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Perrault Syndrome 4	Cubitus valgus, Hypoplasia of the ovary, Increased circulating gonadotropin level, Osteoporosis, ...	OMIM:615300
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary arterial hypertension, Erythem...	OMIM:612387
Bronchial Neuroendocrine Tumor	Pneumonia, Hypotension, Cardiogenic shock, Right ventricular failure, Hepatic failure, Tricuspid ...	ORPHA:97287
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility...	OMIM:612650
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Ciliary Dyskinesia, Primary, 51	Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm motility, Reduced sperm motility...	OMIM:620438
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Ciliary Dyskinesia, Primary, 16	Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis	OMIM:614017
Lichen Planopilaris	Hepatitis	ORPHA:525
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroiditis, Juve...	ORPHA:275
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Hyp...	OMIM:600705
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Reduced sperm motility...	OMIM:615500
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Immotile s...	OMIM:613807
Mucopolysaccharidosis Type 7	Splenomegaly, Abnormal pleura morphology, Hepatitis, Recurrent respiratory infections	ORPHA:584
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Sepsis In Premature Infants	Hypotension, Diarrhea, Oliguria, Vomiting, Reversible renal failure, Splenomegaly, Hepatomegaly, ...	ORPHA:90051
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Nail dysplasia, Alopecia, Nail dystrophy	OMIM:226600
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ...	OMIM:114000
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi...	OMIM:274000
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Elevated circulati...	ORPHA:91500
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy	ORPHA:100976
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
Hemochromatosis, Type 1	Alopecia, Splenomegaly	OMIM:235200
Mixed Connective Tissue Disease	Splenomegaly, Alopecia, Hemolytic anemia, Leukopenia	ORPHA:809
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Simplified gyral pattern, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Oligohydramnios, Rudim...	ORPHA:958
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Tibial Hemimelia	Absent tibia	OMIM:275220
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Recurrent otitis media, Micr...	OMIM:164745
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline	OMIM:614219
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension	ORPHA:90060
Chronic Mucocutaneous Candidiasis	Skin rash, Recurrent respiratory infections, Cheilitis, Hepatitis	ORPHA:1334
Acute Disseminated Encephalomyelitis	Myelitis, Somatic sensory dysfunction, Herpes simplex encephalitis, Optic neuritis, Ataxia, Viral...	ORPHA:83597
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Tafro Syndrome	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Elevated circulating C-react...	ORPHA:457077
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesi...	ORPHA:2357
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis	OMIM:617091
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Decrease...	ORPHA:125
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of...	OMIM:208500
Johnson Neuroectodermal Syndrome	Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow	ORPHA:2316
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Vertebral fusion, Hypo...	ORPHA:3109
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Intestinal obstruction, He...	ORPHA:160
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	ORPHA:100026
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails	OMIM:261990
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Hirsutism, Thrombocytopenia	ORPHA:79330
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Immotile sper...	OMIM:613808
Good Syndrome	Recurrent skin infections, Sinusitis, Recurrent respiratory infections, Decreased circulating ant...	ORPHA:169105
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ...	ORPHA:70588
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Recurrent aspiration pneumonia, Increased serum pyruvate, Polymicrogyria	ORPHA:79243
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Dyskeratosis Congenita, Digenic	Anemia, Alopecia, Nail dystrophy, Sparse eyelashes	OMIM:620040
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulati...	ORPHA:2298
Dyskeratosis Congenita	Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow...	ORPHA:1775
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv...	OMIM:269200
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypertension	ORPHA:330021
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule	ORPHA:48104
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:614594
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Skin rash, Chronic...	OMIM:301074
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc...	OMIM:614576
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Thrombocytopenia, Normochromic anemia	OMIM:618775
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia	OMIM:615758
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Skin rash, Splenomegaly, Elevated urine me...	OMIM:260920
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Asplenia, Nail dystrophy	OMIM:240300
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse body hair, Decreased te...	ORPHA:90796
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:619167
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Johanson-Blizzard Syndrome	Anemia, Abnormal hair pattern, Alopecia	ORPHA:2315
Porphyria, Congenital Erythropoietic	Alopecia, Hypertrichosis, Splenomegaly, Loss of eyelashes, Absent eyebrow, Thrombocytopenia, Redu...	OMIM:263700
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
H Syndrome	Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, His...	ORPHA:168569
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy...	ORPHA:2309
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Small nail, Thin nail	OMIM:242100
Seckel Syndrome 7	Hypoplasia of the uterus, Abnormal carpal morphology, Madelung deformity	OMIM:614851
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Neonatal hyperbilirubinemia, Aspiration pneumonia, ...	ORPHA:95232
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Abnormal granulocyte morphology	ORPHA:98907
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair	OMIM:605676
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:79264
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Fragile nails	OMIM:242150
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Aplasia of the ...	ORPHA:69085
Alpha-Mannosidosis, Adult Form	Pneumonia, Aortic regurgitation, Hepatosplenomegaly, Ataxia	ORPHA:309288
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ...	ORPHA:464
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Chronic constipation, ...	OMIM:256040
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:137940
Dyskeratosis Congenita, X-Linked	Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Pancytopenia, Leukopenia, N...	OMIM:305000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial co...	ORPHA:17
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Shwachman-Diamond Syndrome	Pneumonia, Bone marrow hypocellularity, Hypoamylasemia, Elevated circulating hepatic transaminase...	ORPHA:811
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A...	ORPHA:544488
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Truncus arteriosus, Renal cys...	OMIM:617478
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Bresek Syndrome	Alopecia	ORPHA:85284
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Slc35A1-Cdg	Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,...	OMIM:301110
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Vasculitis ...	OMIM:620296
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin...	ORPHA:486
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Elevated...	OMIM:620376
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Trichotillomania	Alopecia	OMIM:613229
Colchicine Poisoning	Alopecia, Leukocytosis	ORPHA:31824
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Sparse hair	ORPHA:659
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Oligohydramnios, Micrognathia, Rudiment...	OMIM:200980
Keutel Syndrome	Alopecia	ORPHA:85202
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly,...	ORPHA:354
Cholera	Hypovolemic shock, Hypotension, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Ab...	ORPHA:173
Rothmund-Thomson Syndrome	Sparse eyebrow, Aplastic anemia, Small nail, Alopecia totalis, Sparse eyelashes, Nail dysplasia, ...	ORPHA:2909
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Celiac Disease, Susceptibility To, 1	Alopecia, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Leigh Syndrome	Alopecia, Hypertrichosis, Anemia, Neutropenia, Frontal hirsutism	ORPHA:506
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pleural effusion, Abnormality of T cell physiolog...	OMIM:181000
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ...	ORPHA:206572
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Small nail	ORPHA:166035
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Hypoparathyroi...	ORPHA:2237
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia	ORPHA:3453
Popliteal Pterygium Syndrome	Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid scrotum, Cryptorchidism, Hypopla...	OMIM:119500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Ataxia	ORPHA:204
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Antecubital pterygium	OMIM:616258
Thymoma	Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos...	ORPHA:99867
Mirage Syndrome	Aspiration pneumonia, Hyponatremia, Intracranial hemorrhage, Hyperkalemia, Hypoplastic spleen, Pa...	OMIM:617053
Biotinidase Deficiency	Alopecia, Splenomegaly	OMIM:253260
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P...	ORPHA:37
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Fumarase Deficiency	Lissencephaly, Polycythemia, Mitochondrial swelling, Polymicrogyria	OMIM:606812
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair...	ORPHA:1521
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Unconjugated hyperbilirubinemia, Abnormal...	ORPHA:232
Gapo Syndrome	Alopecia, Early balding, Sparse eyebrow, Sparse eyelashes	ORPHA:2067
Macs Syndrome	Alopecia, Sparse hair, Sparse eyebrow	OMIM:613075
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia	ORPHA:1647
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ...	OMIM:607944
Adrenoleukodystrophy	Alopecia	OMIM:300100
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin...	ORPHA:3132
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Sparse eyelashes	OMIM:610768
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Albini...	OMIM:242840
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Anemia, Neutropeni...	ORPHA:221008
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Low anterior hairline	OMIM:618223
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Dark urine, Hyperbilirubinemia, Congenital hepatic f...	OMIM:619534
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,...	ORPHA:79128
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye...	OMIM:268400
Oeis Complex	Congenital hip dislocation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguou...	OMIM:258040
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
Kikuchi-Fujimoto Disease	Alopecia, Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M...	ORPHA:499009
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Anemia, Neutropeni...	ORPHA:221016
Infantile Neuroaxonal Dystrophy	Ataxia, Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79396
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Systemic Lupus Erythematosus	Alopecia, Hemolytic anemia, Leukopenia, Thrombocytopenia	ORPHA:536
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple...	OMIM:230740
Mucopolysaccharidosis, Type Vi	Pneumonia, Reduced leukocyte arylsulfatase B activity, Recurrent upper respiratory tract infectio...	OMIM:253200
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Absen...	ORPHA:158687
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Abnormal circulating enzyme concentration or activity, Dysme...	ORPHA:845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus, Vertebr...	OMIM:271520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Gait ataxia, Distal sensory impairment, Dysmetria, Orthostatic hypotension,...	ORPHA:99027
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor...	ORPHA:35173
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Ane Syndrome	Alopecia	ORPHA:157954
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair	OMIM:614008
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse...	ORPHA:2108
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Frontal balding, Decreased testi...	ORPHA:90794
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Patent ductus arteriosus	OMIM:603467
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia	ORPHA:90153
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ...	OMIM:218330
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Hepatomegaly, Chronic otitis media, Splenomegaly	ORPHA:169090
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome...	ORPHA:64
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Acute Radiation Syndrome	Telangiectasia, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Jaundice, Hyperkalemia, Hyponatremia	ORPHA:90790
Absence Of The Pulmonary Artery	Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventric...	ORPHA:980
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis	OMIM:619321
X-Linked Dystonia-Parkinsonism	Chorea, Aspiration pneumonia	ORPHA:53351
Osteopathia Striata With Cranial Sclerosis	Craniofacial osteosclerosis, Sclerosis of skull base, Oligohydramnios, Fibular aplasia, Micrognat...	OMIM:300373
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Giant Cell Arteritis	Alopecia	ORPHA:397
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL ...	ORPHA:77293
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse ...	OMIM:618419
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism	ORPHA:189427
Bartsocas-Papas Syndrome 1	Alopecia, Small nail, Alopecia totalis, Absent eyelashes, Absent eyebrow, Anonychia, Sparse scalp...	OMIM:263650
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Decreased calvarial ossification	OMIM:619879
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Joint hypermobility, Aplasia of the uterus, Prominent...	ORPHA:457284
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Ataxia, Respiratory tract infection, Infectious encephalitis, Pustule, Arrhythmia, Sin...	ORPHA:68
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti...	OMIM:301072
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Hypogonadism, Decreased testicular size, Decreased response to growth hormo...	ORPHA:3464
Alpha-Mannosidosis, Infantile Form	Pneumonia, Aortic regurgitation, Hepatosplenomegaly, Abnormal circulating enzyme concentration or...	ORPHA:309282
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon...	OMIM:615866
Leprosy	Alopecia, Sparse body hair, Abnormality of the spleen, Loss of eyelashes, Absent eyebrow	ORPHA:548
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly, Mitral regurgitation	OMIM:617809
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus	OMIM:300472
Mucopolysaccharidosis Type 3	Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Respira...	ORPHA:581
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypopl...	OMIM:241080
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Cryptorchidism, Ovarian cyst, Aplasia of t...	OMIM:614527
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Premature ventricular contrac...	OMIM:602535
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Pulmonary arterial hypertension, ...	ORPHA:280633
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:363618
Bickerstaff Brainstem Encephalitis	Pneumonia, Dysesthesia, Respiratory tract infection, Ataxia, Sensory ataxia, Impaired proprioception	ORPHA:79138
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Decreased beta-galactosidase activity, Cardiomyopathy, Aspiration pneumonia	ORPHA:79255
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Autosomal Dominant Hypocalcemia	Abnormal fingernail morphology, Alopecia, Abnormality of the nail	ORPHA:428
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Nail dystrophy, Anonychia, Anemia, Abnormality of the nail, Paronychia	ORPHA:79404
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Sparse scalp hair, Onychogryposis	OMIM:248370
Sarcoidosis	Alopecia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic a...	ORPHA:797
Charge Syndrome	Bifid femur, Short thumb, Lymphopenia, Micrognathia, Down-sloping shoulders, Hand polydactyly, Ab...	OMIM:214800
Systemic Sclerosis	Nail bed telangiectasia, Alopecia	ORPHA:90291
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Chops Syndrome	Patent ductus arteriosus, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentra...	ORPHA:73230
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Aspiration pneumonia	OMIM:616430
Orofaciodigital Syndrome Type 1	Alopecia, Sparse hair, Coarse hair, Brittle hair	ORPHA:2750
Biotinidase Deficiency	Alopecia	ORPHA:79241
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Plague	Inflammation of the large intestine, Hypotension, Lymphadenitis, Chapped lip, Skin rash, Splenome...	ORPHA:707
Degcags Syndrome	Pneumonia, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonary arterial hypertension, ...	OMIM:619488
Kinsship Syndrome	Osteopenia, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated rad...	OMIM:619297
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Alopecia, Small nail, Alopecia of scalp, Sparse eyelashes, Absent eyelashes, Broa...	OMIM:264090
Autosomal Recessive Robinow Syndrome	Long eyelashes, Fingernail dysplasia, Alopecia	ORPHA:1507
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia	ORPHA:70
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Periodontitis, Uterine rupture, Cys...	OMIM:130050
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Progressive flexion contractures	ORPHA:98808
Autosomal Dominant Robinow Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Long eyelashes, ...	ORPHA:3107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail	OMIM:308050
Dermatomyositis	Alopecia, Abnormal eosinophil morphology, Abnormality of the nail, Abnormal hair quantity	ORPHA:221
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal joint morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Chronic Graft Versus Host Disease	Pancytopenia, Alopecia, Nail dystrophy, Onycholysis	ORPHA:99921
Niemann-Pick Disease Type C	Hepatic failure, Aspiration pneumonia, Chorea, Hepatosplenomegaly, Abnormality of the liver, Sple...	ORPHA:646
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi...	OMIM:615067
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow...	ORPHA:2273
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Cardiac-Urogenital Syndrome	Tracheomalacia, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penosc...	OMIM:618280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi...	OMIM:201750
Miller-Dieker Lissencephaly Syndrome	Pachygyria, Gray matter heterotopia, Recurrent aspiration pneumonia, Agyria, Lissencephaly	OMIM:247200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia	ORPHA:1018
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair	ORPHA:363958
Blepharophimosis, Ptosis, And Epicanthus Inversus	Sparse pubic hair, Highly arched eyebrow, Hypoplasia of the uterus, Increased circulating gonadot...	OMIM:110100
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,...	ORPHA:642
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Hepatoblastoma, Patent ductus...	ORPHA:1465
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Recurren...	ORPHA:397715
Xeroderma Pigmentosum	Alopecia	ORPHA:910
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism	OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Gaucher Disease, Type Ii	Hepatomegaly, Recurrent aspiration pneumonia, Bronchiolitis, Splenomegaly	OMIM:230900
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Thick eyeb...	OMIM:135900
Loeys-Dietz Syndrome	Joint dislocation, Uterine rupture, Camptodactyly of finger, Joint hypermobility, Craniosynostosis	ORPHA:60030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Congestive heart failure, Hypoplasia of proximal radius, Aspiration pneumonia, Microg...	ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Aortic valve stenosis, Otitis media, Cardiac conduction abnormality, Recurrent respira...	ORPHA:353281
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair	ORPHA:2636
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Wolf-Hirschhorn Syndrome	Precocious puberty, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Aplasia of the...	OMIM:194190
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Absent eyelashes, Nail dysplasia, D...	OMIM:308205
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia,...	ORPHA:572333
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Hypoplastic toenails, Low post...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Hypoplastic toenails, Low post...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Hypoplastic toenails, Low post...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Hypoplastic toenails, Low post...	ORPHA:881
Steinert Myotonic Dystrophy	Alopecia, Early balding	ORPHA:273
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspir...	ORPHA:79318
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Sparse hair, Nail dystrophy	ORPHA:158668
Okamoto Syndrome	Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Jo...	ORPHA:2729
22Q11.2 Deletion Syndrome	Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Seborrheic dermatitis, Thromboc...	ORPHA:567
Viss Syndrome	Alopecia, Hypereosinophilia, Sparse scalp hair, Hirsutism	OMIM:619472
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Recurrent otitis media, Patent ductus arteriosus, Conjunctivitis,...	OMIM:616268
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Periventricular heterotopia, Pneumothorax, Pulmonary arterial hypertensi...	OMIM:612289
Neu-Laxova Syndrome 1	Joint contracture of the hand, Pterygium, Cryptorchidism, Absent eyelashes, Camptodactyly, Bifid ...	OMIM:256520
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Elevated circulating hepatic transami...	ORPHA:95455
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Aortic valve stenosis, Otitis media, Cardiac conduction abnormality, Recurrent respira...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Aortic valve stenosis, Otitis media, Cardiac conduction abnormality, Recurrent respira...	ORPHA:353277
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Alopecia, Periodontitis, Uterine rupture, Joint dislocation, Cystocel...	ORPHA:286
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Patent ductus arteriosus	ORPHA:2745
African Trypanosomiasis	Alopecia, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Aspiration pneumonia	OMIM:619482
Digeorge Syndrome	Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Recurrent si...	OMIM:188400
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Alopecia totalis, Loss of eyelashes, Dystrophic fingernails, Patchy alopecia,...	ORPHA:740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Patent ductus arteriosus, Pulmonic stenosis, Aspiration...	ORPHA:438213
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Sparse eyebrow, Alopecia, Camptodactyly of 2nd-5th fin...	OMIM:601803
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure, Ataxia	ORPHA:501
Behcet Syndrome	Patchy alopecia	OMIM:109650
Alobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:220386
Peters-Plus Syndrome	Facial hypertrichosis, Cryptorchidism, Limited elbow movement, Joint hypermobility, Hypoplastic l...	OMIM:261540
Ramon Syndrome	Juvenile rheumatoid arthritis	OMIM:266270
Doors Syndrome	Polymicrogyria, Aspiration pneumonia	ORPHA:79500
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Peters Plus Syndrome	Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia	ORPHA:709
Yunis-Varon Syndrome	Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension, Pachygyria, Heart murmur	OMIM:216340
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia	OMIM:147920

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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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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