Gene: Sharpin MGI:1913331

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SHANK-associated RH domain interacting protein

Synonyms:

SIPL1, 0610041B22Rik, cpdm

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 Sharpin 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 Sharpin (0 diseases)
Human diseases predicted to be associated with Sharpin (2376 diseases)

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

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

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Peeling Skin Syndrome 2	Erythema, Abnormality of the nail, Scaling skin	OMIM:609796
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Abnormality of the nail	OMIM:612908
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Chilblain Lupus 2	Chilblains	OMIM:614415
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi...	ORPHA:2269
Classic Mycosis Fungoides	Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, ...	ORPHA:2584
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Netherton Syndrome	Allergic rhinitis, Angioedema, Increased circulating IgE level, Parakeratosis, Erythroderma, Brit...	OMIM:256500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Abn...	ORPHA:98813
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E...	OMIM:614700
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepat...	ORPHA:331206
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Ectropion, Dry skin, Abnormal lymphocyte morphology, Abnormal...	ORPHA:3162
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat...	ORPHA:169154
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C...	OMIM:607271
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l...	ORPHA:436159
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downturned corners of mouth, Lon...	ORPHA:353298
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Abscess, Oral ulcer, Granuloma, Ecz...	OMIM:618935
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Fine hair, Alopecia of scalp, Scaling skin, Epidermal acanthosis, Slow-growing...	ORPHA:90368
Mixed Connective Tissue Disease	Xerostomia, Hepatomegaly, Purpura, Alopecia, Gastroesophageal reflux, Gastrointestinal hemorrhage...	ORPHA:809
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Scal...	OMIM:604536
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Cholestasis, Dry skin, Sparse eyelashes, Parakeratosis, Hepatomegaly, Jaundice, Epidermal acantho...	OMIM:607626
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, I...	OMIM:615513
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Impaired T...	OMIM:240500
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu...	OMIM:300400
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,...	OMIM:607594
Psoriasis 14, Pustular	Erythema, Polyarticular arthritis, Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Nail d...	OMIM:614204
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Dry skin, Sterile abscess, High palate, ...	OMIM:618282
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Edema, Failure to thrive, Dry skin, Abnormal lymphocyte morp...	ORPHA:39041
Immunodeficiency 58	Allergic rhinitis, Cold urticaria, Molluscum contagiosum, Esophagitis, Psoriasiform lesion, Dysph...	OMIM:618131
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Autoimmu...	OMIM:616576
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus...	ORPHA:37748
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ...	ORPHA:79147
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail	ORPHA:530838
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Polyarticular arthritis, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune...	OMIM:617388
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin	OMIM:113800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de...	OMIM:615895
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
L-Ferritin Deficiency	Alopecia	OMIM:615604
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downturned corners of mouth, Dow...	OMIM:616651
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Diffuse Cutaneous Mastocytosis	Thickened skin, Diarrhea, Abnormality of the spleen, Erythroderma, Hepatomegaly, Abdominal pain, ...	ORPHA:79456
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re...	OMIM:619220
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Osteomalacia, Recu...	OMIM:619381
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Molluscum contagiosum...	OMIM:243700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, D...	OMIM:304790
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Lymphopenia, Cutis marmorata, Follicular hyperplasia, Pustule, Telangiec...	OMIM:615934
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Lung adenocarcinom...	ORPHA:166113
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Prolidase Deficiency	Erythema, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dr...	ORPHA:742
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Eclabion, Nail dystrophy, Ichthyosis, Multiple joint contractures, Para...	ORPHA:100976
Immunodeficiency 27A	Pneumonia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomegaly, Leukocytosis,...	OMIM:209950
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Hyper-Igd Syndrome	Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegaly, Leuko...	OMIM:260920
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Orthokeratosis, Recurrent respiratory infections, Hypergranulosis, Incr...	OMIM:615508
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Erythrokeratodermia Variabilis	Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ...	ORPHA:317
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Oral ulcer, Cirrhosis, Increased circulating IgA level, Neutr...	OMIM:308230
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
C1Q Deficiency 3	Discoid lupus rash	OMIM:620322
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Acute Generalized Exanthematous Pustulosis	Facial edema, Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Pre...	ORPHA:293173
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Abnormality of the dentition, Recurrent upper respiratory tract infections, Eczematoid dermatitis...	OMIM:615952
Syndromic Diarrhea	Lymphopenia, Dry skin, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Patent ductus arter...	ORPHA:84064
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613736
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, D...	OMIM:618523
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus	ORPHA:330064
X-Linked Agammaglobulinemia	Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Alopecia, ...	ORPHA:47
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal proportion of CD8-posi...	ORPHA:125
Lymphatic Filariasis	Predominantly lower limb lymphedema, Ankle swelling, Lymphadenitis, Lymphedema, Hypereosinophilia...	ORPHA:2035
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Nar...	ORPHA:83617
Peeling Skin Syndrome 4	Epidermal acanthosis, Nail dystrophy, Scaling skin	OMIM:607936
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Urticaria, Chronic noninfectious lymphadenopathy, Splenomegaly,...	OMIM:601859
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Immunodeficiency 53	Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p...	OMIM:617585
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Reduced subcutaneous adi...	ORPHA:90156
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Low posterior hairline, Epicanthus, Neutropenia, Hepatomegaly, Macrovesicular hep...	OMIM:617303
Iga Pemphigus	Cutaneous abscess, Generalized abnormality of skin, Neutrophilic infiltration of the skin, Oral m...	ORPHA:555905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m...	OMIM:617638
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratitis, Hyperparakeratosis, Lymphe...	ORPHA:182
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, In...	ORPHA:449395
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weig...	OMIM:615846
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Alpha-Heavy Chain Disease	Alopecia, Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly...	ORPHA:100025
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormal hair morphology, Increased circulating IgE level, Chronic otitis media, Osteopenia, Ecze...	ORPHA:2314
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ...	ORPHA:31205
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Psoriasis 2	Epidermal acanthosis, Scaling skin	OMIM:602723
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency 7	Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Erythema, Pulmonary cyst, Diarrhea, Increased circulating IgE level, Eosinophilic ...	OMIM:147060
Boutonneuse Fever	Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leuk...	ORPHA:83313
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Oral ulcer,...	ORPHA:39812
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion, Ridged nail, Oral ulcer, Parakeratosis,...	ORPHA:83453
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Abnormal dental morphology, Superficial dermal perivascular inflammator...	OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen...	ORPHA:277
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili...	ORPHA:411696
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar...	OMIM:619281
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg...	OMIM:226990
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Decreased circulating ...	OMIM:619752
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Chronic myelomonocytic leuk...	ORPHA:90280
Tooth Agenesis, Selective, 8	Dry skin, Sparse eyebrow, Sparse hair	OMIM:617073
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Carious teeth, Skin ulcer, Increased circulat...	OMIM:620603
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Postnatal growth reta...	ORPHA:477
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Trichothiodystrophy 1, Photosensitive	Small nail, Dry skin, Intestinal obstruction, Telangiectasia, Erythroderma, Brittle hair, Sparse ...	OMIM:601675
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe...	OMIM:614069
Immunodeficiency 23	Allergic rhinitis, Erythema, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum,...	OMIM:615816
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel...	ORPHA:51636
Cinca Syndrome	Patellar overgrowth, Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymph...	OMIM:607115
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Skin ulcer, Recurrent respiratory infections, Failure...	ORPHA:33355
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Cholestasis, Dry skin, Pancytopenia, Epicanthus, Cirrhosis, ...	OMIM:614576
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Scaling skin	ORPHA:263534
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Growth delay, Lymp...	OMIM:616005
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Tooth agenesis, Gingival recession, Leukonychia, Nail dystrop...	OMIM:615821
Poikiloderma With Neutropenia	Carious teeth, Recurrent otitis media, Low posterior hairline, Telangiectasia, Neutropenia, Hyper...	OMIM:604173
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Alopecia, Rheumatoid arthritis, Aplasia/Hypoplasia of the spleen, He...	ORPHA:227990
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Peeling Skin Syndrome 1	Onycholysis, Nail dystrophy, Scaling skin, Brittle hair	OMIM:270300
Kindler Epidermolysis Bullosa	Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Esophagitis, Abnorma...	ORPHA:2908
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the...	OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Lamellar Ichthyosis	Abnormality of the dentition, Abnormality of the nail, Dry skin, Ichthyosis, Lack of skin elastic...	ORPHA:313
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Failure to thrive, Facial hirsutism, Elev...	OMIM:170100
Pityriasis Rubra Pilaris	Pustule, Pruritus, Erythroderma, Eczematoid dermatitis	ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormality of the dentition, Abnormal hair morphology, Joint stiffness, Palmoplantar hyperkerato...	OMIM:617756
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Atelect...	OMIM:306400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Thickened skin, Limitation of joint mobility, Lymphopenia, Abnormal pleura morphology, Eosinophil...	ORPHA:2582
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint dislocation, Lymphopenia, Leukopenia, Joint stiffness, Pos...	OMIM:620210
Pachydermoperiostosis	Thickened skin, Limitation of joint mobility, Hepatomegaly, Genu varum, Gastrointestinal hemorrha...	ORPHA:2796
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy...	ORPHA:454
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Oral ulcer, ...	OMIM:620376
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated circulating hepatic transaminase concentration, Predominantly dermal neutrophilic infilt...	ORPHA:284426
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Lymphadenopathy, Anemia, Osteolysis	ORPHA:158014
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema	OMIM:212360
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
Netherton Syndrome	Sparse scalp hair, Abnormal hair morphology, Increased circulating IgE level, Dry skin, Sparse ey...	ORPHA:634
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Hepatomegaly, Abdominal pain, Lymphadenopathy, Arthritis, An...	ORPHA:829
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Alopecia of scalp, Nail dystrophy, Scaling skin	OMIM:618373
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Dry skin, Ileitis, Acute infectious...	ORPHA:707
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au...	ORPHA:227982
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Olmsted Syndrome 2	Sparse hair, Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion con...	OMIM:619208
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Abdominal...	ORPHA:73263
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h...	ORPHA:139402
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Arthropathy, Feeding ...	OMIM:612952
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Recurrent respiratory infections, Failure to thrive in infanc...	OMIM:613385
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Decreased body weight, Hypoplastic nipples, Palmoplantar hyperkeratos...	OMIM:609165
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt...	OMIM:604777
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Cholelithiasis, Female hypogonadism, Chronic ...	OMIM:240300
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Ascites, Pleural effusion, Decreas...	ORPHA:90362
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars...	OMIM:104100
Anonychia With Flexural Pigmentation	Carious teeth, Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia,...	ORPHA:69125
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal gr...	OMIM:620632
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma...	ORPHA:3260
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Vomiting, Skin ulcer, Lymphopenia, Interstitial p...	ORPHA:454831
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Abnormality of the nail, Scaling skin	OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
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
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Pulmonary fibrosis, Increased circulating IgE level, Osteomyelit...	ORPHA:1163
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Faci...	OMIM:620321
Celiac Disease, Susceptibility To, 1	Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Celiac disease, Abdomi...	OMIM:212750
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus	OMIM:607685
Leishmaniasis	Abnormal oral mucosa morphology, Elevated circulating hepatic transaminase concentration, Skin ul...	ORPHA:507
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Periodontitis, Aplastic anemia, Lymphopenia, Oral ulcer, Acute myeloid leukemia, Neutro...	ORPHA:486
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ...	OMIM:242860
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Ichthyosis Vulgaris	Dry skin, Absent keratohyalin granules	OMIM:146700
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Erythroderma, Patellar dislocation, High palate, Hip dislocation, Abnormality o...	ORPHA:35173
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Elevated circulating hepatic trans...	ORPHA:400
Zika Virus Disease	Myelitis, Ankle swelling, Vomiting, Wrist swelling, Pruritus, Subcutaneous hemorrhage, Intrauteri...	ORPHA:448237
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Skin ulcer, Recurrent respiratory infections, Failure to thrive, Abnormal ly...	ORPHA:229717
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Short palpebral fissure, Natal tooth, Lymph...	OMIM:617237
Congenital Syphilis	Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Osteochondrosis, High pala...	ORPHA:499009
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Increased circulating interleukin 8 concentration, Premature graying of hair, Recurrent...	OMIM:256040
Proteus Syndrome	Downslanted palpebral fissures, Open mouth, Splenomegaly, Ptosis, Hyperkeratosis, Epidermal acant...	OMIM:176920
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Mogs-Cdg	Hepatosplenomegaly, Chronic constipation, Pulmonary edema, Hepatomegaly, High palate, Alopecia, S...	ORPHA:79330
Parana Hard Skin Syndrome	Thickened skin, Growth delay, Generalized hirsutism, Short stature, Restricted chest movement, Hy...	ORPHA:2812
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin...	OMIM:619573
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti...	ORPHA:221139
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, Recurrent sino...	ORPHA:498359
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl...	OMIM:308300
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor...	OMIM:208900
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure...	OMIM:613327
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino...	OMIM:609529
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Ige Responsiveness, Atopic	Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Thin skin, Dystrophic toenail, Crusting erythematous dermatitis, Dystrophic fingernails...	ORPHA:158673
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Gastrointestinal hemorrhage, Diarrhea, Limitation of joint mobility, Growth delay, Recu...	ORPHA:343
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Riddle Syndrome	Erythema, Diarrhea, Telangiectasia, Weight loss, Abdominal pain, Otitis media, Recurrent sinusiti...	ORPHA:420741
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod...	OMIM:612281
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Joint stiffness, Ichthyosis, Short stature...	ORPHA:816
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Erythem...	OMIM:158310
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate	ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Cutaneous Mastocytoma	Thickened skin, Erythema, Diarrhea, Vomiting, Telangiectasia macularis eruptiva perstans, Angioed...	ORPHA:79455
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Delayed puberty, Hyperkeratosis	ORPHA:2297
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti...	ORPHA:319552
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Increased circulating IgE level,...	ORPHA:2902
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Intraut...	OMIM:617744
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Oral ulcer, Pustule, Weight loss, Neutropenia, Anorexia...	ORPHA:50918
Squamous Cell Carcinoma Of The Esophagus	Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting, Lymphadenopathy	ORPHA:99977
Localized Scleroderma	Thickened skin, Erythema, Gastroesophageal reflux, Dental malocclusion, Abnormality of the dentit...	ORPHA:90289
Cyclic Neutropenia	Periodontitis, Atrophy of alveolar ridges, Lymphopenia, Oral ulcer, Tooth abscess, Abdominal pain...	ORPHA:2686
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis	OMIM:617526
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morphology, Hyperkerat...	ORPHA:464
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy	OMIM:254400
Cronkhite-Canada Syndrome	Diarrhea, Sparse body hair, Stomach cancer, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Hyp...	ORPHA:2930
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Failure to thrive, Abnormal fingernail morphology, Ridged nail, Absent toenai...	ORPHA:89838
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectovaginal fistula, Decreased lym...	ORPHA:35078
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Recurre...	OMIM:210900
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Dry skin, Nail dyst...	ORPHA:2890
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Joint swelling, Chronic diarrhea...	OMIM:617099
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia	ORPHA:52416
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Peeling Skin Syndrome 6	Dry skin, Scaling skin	OMIM:618084
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Dermatographic urticaria, Alopecia of scalp, Epidermal acanthosis, Follicular ...	OMIM:608649
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Erythema migrans, Parakeratosis, Skin vesicle, Skin fragility with non-scarring blistering, Abnor...	ORPHA:158681
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections, Abnormality of the lymphatic system	ORPHA:36237
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231226
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Vomiting, Failure to thrive, Hypogonadism, Intrauterine growth retardati...	ORPHA:79351
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis...	OMIM:614878
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly...	OMIM:615401
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Long philtrum, Nail dystrophy, Chronic rhinitis, Parakeratosis, Ectoder...	OMIM:615225
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Conical tooth, Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absen...	OMIM:618625
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Elbow dislocation, Failure to thrive, Abnormal lung lobati...	ORPHA:2538
Chronic Mucocutaneous Candidiasis	Erythema, Hepatitis, Skin ulcer, Abnormal lip morphology, Abnormal fingernail morphology, Abnorma...	ORPHA:1334
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnorma...	ORPHA:284
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pruritus, Pleural empyem...	ORPHA:228123
Idiopathic Localized Lipodystrophy	Erythema, Scaling skin	ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D...	OMIM:612782
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Short palpebral fissure, Long philtrum, Thi...	OMIM:618092
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Conjunctival hamart...	ORPHA:312
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ...	ORPHA:275
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ...	ORPHA:381
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Generalized abnor...	ORPHA:79396
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Recurrent bronchiolitis, Lympha...	OMIM:619164
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Dyskeratosis Congenita	Carious teeth, Periodontitis, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spa...	ORPHA:1775
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Abnormality of the wrist, Nail dystrophy, Abnormal toenail morph...	ORPHA:89843
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Recurrent s...	ORPHA:79503
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Abnormal imm...	ORPHA:90159
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Fo...	OMIM:616295
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair	OMIM:620415
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent respiratory infections, Pancytope...	ORPHA:90045
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Scarring alopecia of scalp, Pustule	ORPHA:222
Immunodeficiency 50	Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ...	OMIM:300988
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Lymphopenia, Blepharophimosis, Sparse hair, Patent ductus arterio...	OMIM:620005
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Oral ulcer, Decreased circulating compl...	ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro...	OMIM:618048
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Dry skin, Ridged na...	ORPHA:1010
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Diarrhea, Intestinal obstruction, Recurrent pharyngitis, Periorbital edema, Abdominal p...	ORPHA:32960
Esophagitis, Eosinophilic, 2	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:610247
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thickened skin, Hepatosplenomegaly, Epicanthus, Patent ductus arteriosus, Long eyelashes, Thick h...	ORPHA:505248
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Recurrent otitis media, Intrauterine growth retard...	OMIM:612562
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, B...	ORPHA:217390
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Bone Marrow Failure Syndrome 3	Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Oral ulcer, Epicanthus, A...	OMIM:617052
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,...	OMIM:618944
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Dry skin, Lung adenocarcinoma, Feeding difficulties in ...	ORPHA:221
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
9Q33.3Q34.11 Microdeletion Syndrome	Highly arched eyebrow, Webbed neck, Tented philtrum, Patellar hypoplasia, Telecanthus, Esophagiti...	ORPHA:495818
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych...	OMIM:619816
Lig4 Syndrome	Erythema, Acute leukemia, Growth delay, Pancytopenia, Telecanthus, Leukocytosis, Upslanted palpeb...	ORPHA:99812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Cutis marmorata, Livedo ra...	OMIM:615688
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Gastroesophageal reflux, Joint dislocation, Rickets, Abnormalit...	ORPHA:1901
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Congenital Disorder Of Glycosylation, Type Iq	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:612379
Felty Syndrome	Limitation of joint mobility, Abnormal joint morphology, Synovitis, Weight loss, Neutropenia, Rec...	ORPHA:47612
Aggressive Systemic Mastocytosis	Diarrhea, Pancytopenia, Hepatosplenomegaly, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le...	ORPHA:98850
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Abnormal lymphocyte morphology, Pruritus, Cutaneous photosensitivity	ORPHA:33314
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Nocardiosis	Lymphadenitis, Scleritis, Weight loss, Anorexia, Dacryocystitis, Endocarditis, Cutaneous abscess,...	ORPHA:31204
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Long philtrum, Hypopl...	OMIM:618419
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Lymphop...	OMIM:301000
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231214
Lichen Planopilaris	Alopecia, Hepatitis, Skin ulcer, Neoplasm of the oral cavity, Abnormal fingernail morphology, Pte...	ORPHA:525
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Erythroderma, Scaling skin, Thin vermilion border, Flexion contractu...	OMIM:609180
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Paronychia, Perioral erythema, Failure to thrive, Bloody diarrhea, Increased c...	OMIM:614328
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Periphera...	ORPHA:2494
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gin...	ORPHA:517
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomitin...	ORPHA:2070
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Downslanted palpebral fissures, Hepatospl...	OMIM:619750
Eosinophilic Granulomatosis With Polyangiitis	Cutis marmorata, Abnormal pleura morphology, Nausea and vomiting, Intestinal obstruction, Weight ...	ORPHA:183
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Impaired T cell function, Failure to thrive, Hypogonadism, Dry skin,...	OMIM:201100
Smith-Kingsmore Syndrome	Rhizomelia, Long philtrum, Downslanted palpebral fissures, Decreased circulating IgA level, Large...	OMIM:616638
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Epicanthus	OMIM:616911
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Papa Syndrome	Limitation of joint mobility, Skin ulcer, Crohn's disease, Increased inflammatory response, Myosi...	ORPHA:69126
Generalized Eruptive Histiocytosis	Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis	ORPHA:157991
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Sparse eyelashes, Palmoplant...	OMIM:605676
Necrobiosis Lipoidica	Erythema, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, ...	ORPHA:542592
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Failure to thrive in infancy, Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustul...	OMIM:612852
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ...	ORPHA:36234
Recon Progeroid Syndrome	Dental crowding, Progeroid facial appearance, Growth delay, Dry skin, Hyperconvex thumb nails, Th...	OMIM:620370
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Failure to thrive, Ichthyosis, Erythroderma, Ectro...	ORPHA:79394
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Lymphopenia, Increased circulating IgA level, Neutropenia, Brittle ha...	OMIM:616395
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Rothmund-Thomson Syndrome Type 2	Erythema, Diarrhea, Aplastic anemia, Carious teeth, Porokeratosis, Alopecia totalis, Patellar apl...	ORPHA:221016
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin ulcer, Generalized abnormality of skin, Ascites, Skin r...	ORPHA:779
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocyto...	OMIM:618116
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Growth delay, Dry skin, Ichthyosis, Scaling skin, Joint contracture, Gingivitis, Hyperk...	OMIM:614457
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Systemic Lupus Erythematosus 17	Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Decreased circulating complement C3 conc...	OMIM:301080
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormal lacrimal gland morphology, Periorbital ede...	ORPHA:449563
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt...	ORPHA:60026
Simple Cryoglobulinemia	Cold urticaria, Chronic lymphatic leukemia, Weight loss, Abdominal pain, Purpura, Gastrointestina...	ORPHA:91139
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Telecanthus, Abnormal erythrocyte morphology,...	ORPHA:2575
Stevens-Johnson Syndrome	Erythema, Gastrointestinal hemorrhage, Diarrhea, Elevated circulating hepatic transaminase concen...	ORPHA:36426
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Anal atresia, Erythrode...	OMIM:617425
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Viss Syndrome	Increased circulating IgE level, Recurrent joint dislocation, Feeding difficulties, Genu valgum, ...	OMIM:619472
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Spar...	OMIM:308800
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Indolent Systemic Mastocytosis	Mastocytosis, Generalized abnormality of skin, Urticaria, Increased proportion of CD25+ mast cell...	ORPHA:98848
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Recurrent upper respiratory...	OMIM:615758
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:495
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Recurrent pharyngitis, Histiocyto...	ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Elevated circulating hepatic transaminase concentration, Failure to thrive, Ly...	OMIM:617591
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Diarrhea, Recurrent otitis media, Hepatic steatosis, Pulmonary ede...	OMIM:619991
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Premature ovarian ins...	OMIM:212065
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Toxic Epidermal Necrolysis	Erythema, Acute hepatic failure, Abnormal pleura morphology, Nausea and vomiting, Weight loss, Ne...	ORPHA:537
Autosomal Agammaglobulinemia	Bronchiectasis, Diarrhea, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteomy...	ORPHA:33110
Acrodermatitis Enteropathica	Erythema, Dry skin, Pustule, Weight loss, Anorexia, Abnormality of the nail, Alopecia, Ridged fin...	ORPHA:37
Pemphigus Foliaceus	Abnormal oral mucosa morphology, Erythema, Psoriasiform dermatitis, Oral ulcer, Crusting erythema...	ORPHA:79481
Trichothiodystrophy	Carious teeth, Dry skin, Epicanthus, Neutropenia, Brittle hair, Split nail, Cutaneous photosensit...	ORPHA:33364
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem...	ORPHA:79124
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Anoperineal fistu...	ORPHA:158668
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Palmoplantar keratoderma, Failure to thrive, Downslanted palpebral fissures, Aspiration pneumonia...	OMIM:609528
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Pete...	OMIM:225750
Primary Biliary Cholangitis	Xanthelasma, Cirrhosis, Increased circulating IgA level, Abdominal distention, Hepatomegaly, Celi...	ORPHA:186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Abnormality of the dentition, Nail dystrophy, Oral mucosal blisters, Palmar hyperkeratosis, Skin ...	ORPHA:79399
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Postnatal growth retardation, Epica...	OMIM:223370
Kawasaki Disease	Diarrhea, Nausea and vomiting, Recurrent pharyngitis, Jaundice, Abdominal pain, Arthritis, Glossi...	ORPHA:2331
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ...	OMIM:242100
Poems Syndrome	Thickened skin, Sclerosis of hand bone, Sclerosis of foot bone, Increased circulating antibody le...	ORPHA:2905
Familial Mediterranean Fever	Erythema, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:342
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, Weight loss, A...	ORPHA:3165
Nicolaides-Baraitser Syndrome	High, narrow palate, Highly arched eyebrow, Alopecia, Short palpebral fissure, Joint dislocation,...	ORPHA:3051
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Angiostrongyliasis	Vomiting, Pruritus, Sti

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