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Gene: Pstpip2 MGI:1335088

Gene Summary

Name:

proline-serine-threonine phosphatase-interacting protein 2

Synonyms:

cmo

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	6.57×10^-06
abnormal seminal vesicle morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal digit morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	8.03×10^-16
abnormal vertebrae morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.09×10^-14
improved glucose tolerance	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.40×10^-05
decreased total body fat amount	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.52×10^-07
decreased grip strength	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	2.70×10^-05
decreased erythrocyte cell number	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	3.69×10^-05
enlarged lymph nodes	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	1.37×10^-09
abnormal tail morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	1.70×10^-07
decreased bone mineral density	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	3.79×10^-06
abnormal liver morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Histopathology

Images

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Hind Leg and Hip

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Combined SHIRPA and Dysmorphology

Images

23 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Pstpip2 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 Pstpip2 (0 diseases)
Human diseases predicted to be associated with Pstpip2 (1353 diseases)

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

The table below shows human diseases predicted to be associated to Pstpip2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Cutis marm...	ORPHA:90280
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Increased circulating IgE level, Abnormality of the elbow, Hyperke...	ORPHA:89843
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli...	ORPHA:90159
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Porokeratosis Plantaris Palmaris Et Disseminata	Abnormal skin morphology of the palm, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin ...	ORPHA:737
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Lupus Erythematosus Tumidus	Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positiv...	ORPHA:90283
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of the hand, Indura...	ORPHA:542592
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop...	ORPHA:530838
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratod...	ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule	ORPHA:2337
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal pinna m...	ORPHA:79147
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and...	ORPHA:498359
Ulerythema Ophryogenesis	Acne, Erythematous papule, Hyperkeratotic papule, Facial erythema, Dermal atrophy, Follicular hyp...	ORPHA:3406
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ...	ORPHA:263534
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Psoriasiform lesion, Rheumatoid factor positive, Anti-histo...	ORPHA:163525
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Abnormal epidermal morphology, Erythema, Periauricular...	ORPHA:79100
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Cutaneous Mastocytoma	Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Hyperpigmente...	ORPHA:79455
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Allergic rhinitis, Pruritus, Increased circulating IgE level...	ORPHA:90368
Acrokeratosis Verruciformis	Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hype...	OMIM:101900
Vulvovaginal Gingival Syndrome	Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion, Abnormality of tumor necro...	ORPHA:83453
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque	ORPHA:464318
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Acantholysis, Inc...	ORPHA:555905
Chilblain Lupus 1	Antinuclear antibody positivity, Autoamputation of digits, Chilblains, Skin ulcer	OMIM:610448
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythe...	ORPHA:79481
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re...	OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Sensorineural hearing impairment, Increased circulating IgE level	OMIM:221700
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Porokeratosis, Pruritus, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Papule, Recurrent cutaneous fungal infections	OMIM:244850
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati...	OMIM:618982
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali...	OMIM:607602
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma, Skin plaque	ORPHA:316
Erythrokeratodermia Variabilis	Macule, Brachydactyly, Skin rash, Hypermelanotic macule, Tapered finger, Erythema, Patchy palmopl...	ORPHA:317
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Sensorineural hearing impairment, Anemia	ORPHA:294
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperker...	ORPHA:79148
Classic Mycosis Fungoides	Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyper...	ORPHA:2584
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir...	ORPHA:48104
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	ORPHA:64745
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous ...	OMIM:147060
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating an...	ORPHA:48377
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Scaling skin, Erythroderma	OMIM:270300
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Pustule, Increased circulating IgE level, Recurrent pneumonia, Papule	OMIM:616069
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu...	OMIM:618282
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Immunodeficiency 27A	Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy...	OMIM:209950
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble...	OMIM:614328
Dowling-Degos Disease 4	Pruritus, Papule, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Neuropathy, Hereditary Sensory, Type Id	Autoamputation of digits, Osteomyelitis, Nail dystrophy	OMIM:613708
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Erythema, Skin plaque, Cutaneous photosensitivity, Papule	ORPHA:33314
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic muc...	ORPHA:98813
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Antinuclear an...	OMIM:618048
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule	ORPHA:409
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Gene...	OMIM:612281
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Skin erosion	ORPHA:222
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Clubbing of fingers, Inflammation of the large intestine, Crohn'...	OMIM:615767
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Skin plaque	OMIM:617524
Rosaï-Dorfman Disease	Subcutaneous nodule, Erythema, Dysgammaglobulinemia, Papule	ORPHA:158014
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:615598
Cutaneous Small Vessel Vasculitis	Skin rash, Recurrent skin infections, Cutis marmorata, Subcutaneous nodule, Erythema, Urticaria, ...	ORPHA:889
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Bathing Suit Ichthyosis	Parakeratosis, Autoamputation of digits, Epidermal acanthosis, Thickened skin, Erythroderma, Palm...	ORPHA:100976
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Epidermal acanthosis, Increased circulating IgA level, Antinuclear a...	OMIM:617388
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Hypermelanotic macule, Erythema, Urticaria, Telangiectasia macularis erup...	OMIM:154800
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ...	OMIM:212360
Reticular Dysgenesis	Skin rash, Skin ulcer, Decreased circulating antibody level, Chronic otitis media, Hearing impair...	ORPHA:33355
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu...	OMIM:618534
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Cutaneous photosensitivity, Papule	ORPHA:1336
Netherton Syndrome	Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, Angioedema, Increased circul...	OMIM:256500
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Sensorineural he...	ORPHA:79395
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Neutropenia in presence...	OMIM:619220
Epidermolysis Bullosa Simplex 1C, Localized	Palmoplantar blistering, Hyperkeratosis, Milia	OMIM:131800
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Hearing impairment, Mandibular...	ORPHA:53
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Clubbing, Bronchiectasis, Hip dislocation, Re...	OMIM:618523
Erythema Elevatum Diutinum	Skin rash, Skin nodule, Increased circulating antibody level, Vasculitis in the skin, Skin vesicle	ORPHA:90000
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Erythroderma, Decreased circulating antibody ...	ORPHA:634
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Skin nodule, Erythema, Reduced subcutaneous adipose tissue	ORPHA:90160
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Cutaneous Collagenous Vasculopathy	Macule, Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasi...	ORPHA:280779
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth...	ORPHA:231
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin, Increased circulating interferon-gamma concentration	OMIM:612952
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,...	ORPHA:79399
Quinquaud Folliculitis Decalvans	Pustule, Scarring alopecia of scalp, Erythema, Recurrent skin infections	ORPHA:346
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly, Perioral erythema, Ichthyosis	OMIM:248300
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:603909
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Increased circulating IgE level, Hip dysplasia, Hypoplastic iliac wing, Short dist...	ORPHA:1858
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Fragile skin, Palmoplantar hyperkeratosis, Telangiect...	ORPHA:158673
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke...	OMIM:607936
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Ichthyosis With Confetti	Pruritus, Clubbing, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullou...	OMIM:609165
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia	OMIM:619773
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Recurrent ...	ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital ...	OMIM:604777
Neutropenia, Chronic Familial	Clubbing of fingers, Clubbing, Increased circulating antibody level, Periodontitis	OMIM:162700
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Antiphospholipid antibody positivity, Skin rash, Cutis marmorata, Rheumatoid factor pos...	OMIM:615934
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D...	ORPHA:495
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Abnormality of the ton...	ORPHA:47
Chronic Recurrent Multifocal Osteomyelitis 3	Palmoplantar pustulosis, Osteomyelitis, Bone pain	OMIM:259680
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,...	ORPHA:89838
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ...	OMIM:619752
Pemphigus Erythematosus	Autoimmunity, Focal dermal aplasia/hypoplasia, Acantholysis, Antinuclear antibody positivity, Loc...	ORPHA:79480
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy...	ORPHA:77297
Prolidase Deficiency	Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectasia, Skin ulcer...	OMIM:170100
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Abnormal finger morphol...	ORPHA:73
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Palmar hyperlinearity, Ichthyosis, Eczematoid dermatitis	OMIM:146700
Anonychia With Flexural Pigmentation	Abnormal skin morphology of the palm, Macular telangiectasia, Hypermelanotic macule, Hyperkeratos...	ORPHA:69125
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Boutonneuse Fever	Macule, Abnormal skin morphology of the palm, Maculopapular exanthema, Skin rash, Skin nodule, In...	ORPHA:83313
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the earlobes, Increased circulatin...	ORPHA:3409
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Bilateral single transverse palmar creases, Arachnodactyly, Pruri...	ORPHA:742
Bazex Syndrome	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri...	ORPHA:166113
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Angioma Serpiginosum	Macule, Erythema, Vascular skin abnormality	ORPHA:95429
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem...	OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Increased circulating IgA level, Autoimmune thrombocytopenia, Increased circ...	ORPHA:169154
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Metatarsal fracture	OMIM:615632
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,...	ORPHA:229717
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn...	OMIM:243700
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Pgm3-Cdg	Rheumatoid factor positive, Increased circulating IgG level, Chronic otitis media, Conductive hea...	ORPHA:443811
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyp...	ORPHA:2199
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Congenital localized absence of skin, Skin ulcer, Aplasia cuti...	ORPHA:1114
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Increased circulat...	OMIM:618495
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok...	OMIM:617525
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Lichen Planopilaris	Pruritus, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Papule	ORPHA:525
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Cranio...	OMIM:259700
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Maculopapular Cutaneous Mastocytosis	Macule, Yellow papule, Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized a...	ORPHA:79457
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Allergic rhinitis, ...	OMIM:615816
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ...	ORPHA:79099
Immunodeficiency 103, Susceptibility To Fungal Infections	Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Eczema, Autoimmunity, Erythema, Urticaria	ORPHA:703
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Abnormal diaphysis morphology, P...	ORPHA:2028
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Acrogeria	Aplasia/Hypoplasia of the skin, Prematurely aged appearance, Telangiectasia of the skin, Small ha...	ORPHA:2500
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche...	OMIM:619126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased lymphoc...	OMIM:606367
Fanconi-Like Syndrome	Pancytopenia, Osteomyelitis	OMIM:227850
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Ichthyosis Hystrix Of Curth-Macklin	Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperke...	ORPHA:79503
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Hepati...	ORPHA:33110
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Pruritus, Antinuclear antibody positivity, Angioedema, Erythema, Dermatographi...	OMIM:614468
Leishmaniasis	Skin ulcer, Rhinitis, Increased circulating antibody level, Pallor, Skin plaque, Papule	ORPHA:507
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Autoimmunity, Hypopigmented skin patches, Skin ulcer, Narrow foramen ...	ORPHA:220402
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Autoamputation of digits, Osteomyelitis, Osteolytic defects of the phalanges of the hand	OMIM:613115
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis, Osteomyelitis	OMIM:239840
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma	ORPHA:2202
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Aut...	ORPHA:85436
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Pruritus, Increased circulating IgE level, Skin ulcer, Skin ves...	ORPHA:2314
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Dermatitis Herpetiformis	Macule, Eczema, Autoimmunity, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Proliferating Trichilemmal Cyst	Epidermoid cyst, Skin ulcer	ORPHA:492
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Panniculitis, ...	OMIM:608068
Neuropathy, Hereditary Sensory, Type Iic	Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy	OMIM:614213
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule	ORPHA:2297
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Eryth...	ORPHA:79456
Keratosis Pilaris Atrophicans	Erythema, Papule, Comedo	OMIM:604093
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Single transverse palmar crease, Tapered finger, Ect...	OMIM:129200
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expressi...	OMIM:247100
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta...	ORPHA:90156
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp...	ORPHA:2269
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormality of the hand, Palmar pit...	ORPHA:79145
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumo...	OMIM:614878
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora...	ORPHA:542643
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu...	ORPHA:477
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Congenital ichthyosif...	OMIM:242100
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous ...	ORPHA:343
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Spider he...	ORPHA:2137
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t...	ORPHA:2583
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Acantholysis, Atypical scarring of skin, Urt...	ORPHA:704
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Craniofacial osteosclerosis, Bone pain, ...	ORPHA:324964
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Keratolytic Winter Erythema	Erythema, Palmoplantar hyperhidrosis	OMIM:148370
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Sodium-Dependent Multivitamin Transporter Deficiency	Clubbing of fingers, Decreased circulating IgG level	OMIM:618973
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal hair pattern, Seborrheic derm...	ORPHA:2796
Dissecting Cellulitis Of The Scalp	Pruritus, Subcutaneous nodule, Recurrent skin infections	ORPHA:345
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque	OMIM:254400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Hearing i...	ORPHA:36386
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Tapered finger	ORPHA:2812
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C...	OMIM:308800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Keratitis, Osteoarthr...	ORPHA:1657
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,...	OMIM:301081
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Overfolded helix, Prominent stem of antihelix, Agammaglobulinemia, Decreased...	OMIM:619824
Chilblain Lupus 2	Cutaneous photosensitivity, Chilblains	OMIM:614415
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Neuropathy, Hereditary Sensory, Type Ie	Sensorineural hearing impairment, Osteomyelitis, Hearing impairment	OMIM:614116
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin, Palmoplantar blistering, Fragile...	OMIM:604536
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso...	ORPHA:37042
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat...	ORPHA:727
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Cutis marmorata, Anticardiolipin IgG antibody positivity, M...	ORPHA:464343
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ...	OMIM:606545
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hype...	ORPHA:38
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pyoderma gangrenosum, Elbow flexion contracture, Sterile arthritis, Arthritis, Colitis, Cys...	OMIM:604416
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c...	ORPHA:66661
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Increased circulating IgE level, Generalized abnormality of skin, Atopic dermatitis	ORPHA:2902
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Lympha...	OMIM:611762
Simple Cryoglobulinemia	Viral hepatitis, Purpura, Membranoproliferative glomerulonephritis, Pericarditis, Monoclonal elev...	ORPHA:91139
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin, Subcutaneous hemorrhage, Purpura	ORPHA:743
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Osteolys...	OMIM:612852
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Bruising susceptibility...	OMIM:313900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia	OMIM:247800
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Infantile Digital Fibromatosis	Skin nodule, Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis	ORPHA:306731
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Erythematous plaque, Stomatitis, Skin erosion, Genera...	ORPHA:293812
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Sensorineural hearing impairment, Osteomyelitis	OMIM:162400
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat...	ORPHA:3261
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjuncti...	ORPHA:779
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Scarring alopecia of scalp, Sensorineural hearing impairment, Neonatal...	ORPHA:35173
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Recon Progeroid Syndrome	Attached earlobe, Arachnodactyly, Progeroid facial appearance, Proximal placement of thumb, Lived...	OMIM:620370
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Cheilitis, Hyperkeratosis, Papule	ORPHA:1334
Immunodeficiency 60 And Autoimmunity	Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcerative colitis, Decreased cir...	OMIM:618394
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Jaundic...	ORPHA:276
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars	OMIM:131850
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cryoglobulinemic Vasculitis	Viral hepatitis, Cutis marmorata, Circulating immune complexes, Skin ulcer, Arthritis, Keratoconj...	ORPHA:91138
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Foot osteomyelitis, Hammertoe, Dystrophic toenail	OMIM:600882
Bone Marrow Failure Syndrome 4	Rhizomelia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Low-set ea...	OMIM:618116
Graft Versus Host Disease	Fasciitis, Myositis, Acute hepatitis, Maculopapular exanthema, Cutaneous sclerotic plaque, Pneumo...	ORPHA:39812
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Hennekam-Beemer Syndrome	Macule, Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Pruritus, Thickened skin,...	ORPHA:2135
Schnitzler Syndrome	Macule, Skin rash, Pruritus, Urticaria, Increased circulating IgM level, Arthritis, Papule	ORPHA:37748
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Clubbing, Palmoplantar...	OMIM:259100
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,...	OMIM:613502
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Sensorineural hearing impairment, Erythema, Skin ulcer, Palmoplantar keratoderma,...	ORPHA:659
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Immunodeficiency 50	Eczema, Decreased circulating antibody level	OMIM:300988
Tempi Syndrome	Increased circulating IgG level, Telangiectasia, Facial erythema	ORPHA:284227
Polyarteritis Nodosa	Pericarditis, Cutis marmorata, Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:767
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Hypopigm...	ORPHA:330064
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Ollier Disease	Abnormal metaphysis morphology, Subcutaneous nodule, Skin ulcer, Micromelia	ORPHA:296
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet...	OMIM:613496
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Erythema, Recurrent pneumonia, Telangiectasia, Decreased ...	ORPHA:420741
Ichthyosis, Hystrix-Like, With Deafness	Scarring alopecia of scalp, Sensorineural hearing impairment, Erythroderma, Palmoplantar hyperker...	OMIM:602540
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly...	OMIM:613101
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Familial Cold Urticaria	Pruritus, Sensorineural hearing impairment, Erythema, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Osteopenia, Extramedullary hematopoiesis, Bowing of the legs...	ORPHA:313855
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Eczema, Camptodactyly of finger, Pustule, Erythema...	ORPHA:2907
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Endove Syndrome, Limb-Brain Type	Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a...	OMIM:619218
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Clubbing of fingers, Palmoplantar scaling skin, Palmop...	OMIM:605676
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu...	OMIM:618459
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis	OMIM:619423
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu...	OMIM:240500
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Posterior blepharitis, Palmoplanta...	OMIM:300918
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media	OMIM:312863
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Keratitis, Tibial bowing, Limb undergrowth	ORPHA:453510
Cole Disease	Hypopigmented macule, Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis...	OMIM:615522
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho...	ORPHA:811
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease...	OMIM:613493
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Localized skin lesion, Increased circulating IgE ...	ORPHA:1163
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Autoamputation of digits, Distal upper limb muscle weakness, Osteomyelitis	OMIM:613640
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate...	ORPHA:79151
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar...	ORPHA:397596
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Skin ulcer, Decreased ci...	OMIM:615688
Q Fever	Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Thrombocytopenia, ...	ORPHA:781
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Urticaria, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Palmar warts, Decreased circulating antibody level, De...	OMIM:618969
Bloom Syndrome	Decreased circulating IgG level, Syndactyly, Spotty hypopigmentation, Bronchiectasis, Facial eryt...	OMIM:210900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital...	OMIM:613576
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Autosomal Erythropoietic Protoporphyria	Pruritus, Cutaneous photosensitivity, Erythema, Eczema	ORPHA:79278
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Cutaneous photosensitivit...	ORPHA:79397
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism	ORPHA:2218
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macul...	OMIM:618373
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta...	ORPHA:218
Chromomycosis	Erythematous macule, Keratitis, Pruritus, Hyperparakeratosis, Subcutaneous nodule, Verrucous papu...	ORPHA:182
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Dermatographic urticaria, Generalized ichthyos...	OMIM:608649
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C...	OMIM:612843
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Pruritus, Antinuclear antibody positivity, Ant...	ORPHA:562639
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,...	OMIM:619510
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Narrow greater sciatic notch, Decreased circulating IgG level, Short phal...	ORPHA:508533
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Mpdu1-Cdg	Erythematous plaque, Eczema, Scaling skin, Ichthyosis	ORPHA:79323
Immunoglobulin A Vasculitis	Macule, Episcleritis, Skin rash, Pustule, Orchitis, Angioedema, Erythema, Vascular skin abnormali...	ORPHA:761
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre...	OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I...	OMIM:619707
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Erythroderma, Hyperkeratosis, Abnormal helix morphology, Ichth...	ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl...	OMIM:618531
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Protruding ear, Decreased circulating total IgM, Decreased circu...	OMIM:300861
Elastoderma	Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule	ORPHA:228240
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullo...	OMIM:615023
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Leopard Syndrome 3	Few cafe-au-lait spots, Numerous nevi, Posteriorly rotated ears, Epidermal hyperkeratosis, Sensor...	OMIM:613707
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pruritus, Urticaria, Angioedema, Erythema	ORPHA:100057
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Fusariosis	Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis...	ORPHA:494
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Cutis marmorata, Sens...	ORPHA:3219
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids, Hearing impa...	ORPHA:79493
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema	OMIM:177000
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Localized Scleroderma	Fasciitis, Autoimmunity, Cutaneous sclerotic plaque, Thickened skin, Localized skin lesion, Eryth...	ORPHA:90289
Systemic Sclerosis	Acral ulceration, Digital pitting scar, Thickened skin, Digital ulcer, Finger swelling, Gastroint...	ORPHA:90291
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Pustule, Recurrent tonsillitis, Atopic dermatitis, Cholelithiasis	ORPHA:171876
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, P...	OMIM:607115
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Autoimmunity, Abnormal femoral head morphology, Shor...	ORPHA:2619
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ...	OMIM:301082
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Acrocyanosis	ORPHA:49566
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Erythema, Fragile skin, Dec...	ORPHA:79396
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Poor wound healing, Unilateral deafness, Facial erythema, Palmopla...	ORPHA:1010
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis...	ORPHA:1304
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Autoimmunity, Subcutaneous nodule, Erythema, Panniculitis, Inflam...	ORPHA:33577
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l...	OMIM:619924
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Corneodermatoosseous Syndrome	Hearing impairment, Abnormality of the hand, Thickened skin, Erythema, Abnormal finger morphology...	ORPHA:3194
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Protruding ear, Hyperkeratosis, Keratoconjunctivitis sicca, Hearing impairment	ORPHA:1806
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Aplasia cutis congenita, Acantholysis, Widely spaced toes, Mitten deformi...	OMIM:609638
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ...	OMIM:620282
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,...	OMIM:150550
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 43	Hypoplasia of the ulna, Decreased specific antibody response to polysaccharide vaccine, Radial bo...	OMIM:241600
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto...	ORPHA:436159
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ...	ORPHA:231214
Immunodeficiency 22	Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ...	OMIM:615758
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, H...	OMIM:619381
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubulointe...	ORPHA:139402
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand	OMIM:616298
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Takayasu Arteritis	Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Inflammatory abnorma...	ORPHA:3287
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth...	OMIM:608654
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Recurrent ...	ORPHA:793
Adult-Onset Still Disease	Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Arthritis, Bone marrow hypoc...	ORPHA:829
Whim Syndrome 1	Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Roifman Syndrome	Hepatomegaly, Short metacarpal, Hip contracture, Single transverse palmar crease, Eosinophilia, E...	OMIM:616651
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Thickened skin, Subcutaneous nod...	ORPHA:2176
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Pneumonia, Morbilliform rash, Abnormality o...	ORPHA:228123
Familial Multiple Nevi Flammei	Hypermelanotic macule, Skin ulcer, Abnormality of the upper limb, Nevus flammeus, Papule	ORPHA:624
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis	OMIM:269840
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Angioedema, Hereditary, 1	Autoimmunity, Angioedema, Erythema, Reduced hemolytic complement activity, Decreased circulating ...	OMIM:106100
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Eczema, Reduced natural killer cell activity, Increased circulating ...	OMIM:301000
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Telangiectasia of the skin, Autoimmunity, Pruritus, Erythema, ...	ORPHA:93672
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Decreased circulating antibo...	ORPHA:331206
Darier-White Disease	Hypermelanotic macule, Acrokeratosis, Acantholysis, Palmar pits, Pruritus, Plantar pits, Subungua...	OMIM:124200
Immunodeficiency 81	Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki...	OMIM:619374
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Proteus Syndrome	Hyperkeratosis, Epidermal nevus, Epidermal acanthosis, Nevus	OMIM:176920
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Autoamputation of digits, Osteomyelitis, Keratitis, Nail dystrophy	OMIM:256800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:148700
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea...	OMIM:615577
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit...	ORPHA:29207
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Increased circulating IgE level, Otitis media, Erythematous papule, Panhypogammaglobul...	OMIM:602450
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In...	ORPHA:98848
Calciphylaxis	Cutis marmorata, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato...	OMIM:257980
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit...	ORPHA:2552
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures	ORPHA:417
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Petechiae, Maculopapular exanthema, Skin rash,...	ORPHA:540
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Low-set, posteriorly rotated ears, Cutaneous photosensitivity, Eczema, Ichthyosis	ORPHA:3055
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Poor wound healing, Chronic hepatitis, Syst...	ORPHA:101330
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen...	ORPHA:289390
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum	OMIM:615214
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Dermal atrophy, Skin ulcer	ORPHA:2047
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Palmoplantar blistering, Pruritus, Skin erosion, Localized skin lesion, Fragile skin, Erythematou...	ORPHA:79410
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Bone pain, Anemia, Erlenmeyer flask deform...	OMIM:610539
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy...	OMIM:242300
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Limited elbow flexion	ORPHA:206594
Listeriosis	Pericarditis, Liver abscess, Stiff neck, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundice...	ORPHA:533
Werner Syndrome	Aplasia/Hypoplasia of the skin, Prematurely aged appearance, Telangiectasia of the skin, Rocker b...	ORPHA:902
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Leukocytosis,...	ORPHA:3392
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenop...	OMIM:619750
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Ichthyosis, Dry skin	OMIM:612379
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ...	ORPHA:169160
Chronic Granulomatous Disease	Macule, Sinusitis, Hypermelanotic macule, Eczema, Skin ulcer, Otitis media, Cutaneous photosensit...	ORPHA:379
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal epiphysis morphology, ...	ORPHA:2643
Incontinentia Pigmenti	Finger syndactyly, Skin rash, Telangiectasia of the skin, Camptodactyly of finger, Keratitis, Abn...	ORPHA:464
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Interm...	OMIM:186580
Kindler Epidermolysis Bullosa	Finger syndactyly, Aplasia/Hypoplasia of the skin, Recurrent skin infections, Camptodactyly of fi...	ORPHA:2908
Pili Torti-Onychodysplasia Syndrome	Abnormal pinna morphology, Eczema, Generalized keratosis follicularis, Cutaneous syndactyly, Ecto...	ORPHA:2890
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Pruritus, Wrist swelling, Increased ...	ORPHA:448237
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Low-set ears, D...	OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap...	ORPHA:486
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Subcutaneous nodule, Macule, Finger syndactyly, Aplasia/Hypoplas...	ORPHA:2092
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla...	OMIM:619281
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis, Generalized abno...	ORPHA:37
Glutamine Deficiency, Congenital	Camptodactyly, Erythema, Low-set ears, Micromelia	OMIM:610015
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer	ORPHA:86884
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Macrotia, Telangiectasia, Protruding ear, Hyperkeratosis, Kerato...	OMIM:601675
Intellectual Developmental Disorder, Autosomal Recessive 79	Broad-based gait, Eczema, Short hallux, Long fingers, Gait ataxia, Clinodactyly of the 5th finger...	OMIM:620393
Roifman Syndrome	Hip contracture, Brachydactyly, Eosinophilia, Eczema, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Postaxial polydactyly, Patent ductus arteriosus, Decreased specific ant...	OMIM:614576
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, Inc...	ORPHA:449432
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Limitat...	ORPHA:93476
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Camptodactyly of finger, Thickened skin, Thin skin, Milia	ORPHA:1658
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis, Sensorineural hearing impairment	ORPHA:300179
Tarp Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Extramedullary hematopoiesis, Small earlobe...	ORPHA:2886
Chime Syndrome	Short palm, Aplastic clavicle, Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Hip dis...	ORPHA:3474
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Decreased circulating total IgM, Defective T cell proliferat...	OMIM:619774
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Limitation o...	ORPHA:47612
Free Sialic Acid Storage Disease	Abnormality of the upper limb, Skin ulcer	ORPHA:834
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Autoimmunity, Skin ulcer, Arthritis, Narrow foramen obturatorium	ORPHA:220393
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Cutis marmorata, Recurrent pneumonia, Clubbing...	OMIM:301220
Rheumatic Fever	Macule, Pericarditis, Sinusitis, Myocarditis, Subcutaneous nodule, Erythema, Endocarditis, Arthri...	ORPHA:3099
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Rickets, Cholestasis,...	ORPHA:79303
Beta-Thalassemia	Hepatitis, Pallor, Skin ulcer	ORPHA:848
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, Thyroidit...	ORPHA:39041
Methylmalonic Acidemia With Homocystinuria	Skin rash, Lethargy, Gait disturbance	ORPHA:26
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia, Hearing...	ORPHA:858
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema, Papule, Hearing impairment	OMIM:278760
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Hyperkeratosis, Dermal atrophy	OMIM:136300
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo...	OMIM:259720
Myoectodermal Gonadal Dysgenesis Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Bifid distal phalanx of the thumb, Sen...	OMIM:618419
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Decreased circulating compleme...	ORPHA:567544
Warty Dyskeratoma	Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid...	ORPHA:69745
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne...	ORPHA:449395
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot	OMIM:618625
Infantile Myofibromatosis	Abnormal metaphysis morphology, Subcutaneous nodule, Skin ulcer	ORPHA:2591
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Autoimmunity, Keratitis, Skin ulcer, Urticaria, Arthritis, Inflammation of the...	ORPHA:906
Aicardi-Goutieres Syndrome 1	Antiphospholipid antibody positivity, Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyan...	OMIM:225750
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	OMIM:224750
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:259730
Xeroderma Pigmentosum	Macule, Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Keratitis...	ORPHA:910
Agammaglobulinemia, X-Linked	Hearing impairment, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronch...	OMIM:300755
Gaucher Disease	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ...	ORPHA:355
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased...	ORPHA:74
Acromicric Dysplasia	Short metacarpal, Thickened skin, Cone-shaped epiphysis, Short foot, Short long bone, Short palm,...	OMIM:102370
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela...	OMIM:132400
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti...	OMIM:619016
Dyskeratosis Congenita	Macule, Coarse metaphyseal trabecularization, Aplasia/Hypoplasia of the skin, Telangiectasia of t...	ORPHA:1775
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Hearing impairment, Splenomegaly, Leukocytosis, Sensori...	ORPHA:1451
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Caffey Disease	Cortical thickening of long bone diaphyses, Increased circulating antibody level, Periosteal thic...	ORPHA:1310
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:3162
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Sensorineural hearing impairment	OMIM:230350
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Osteomyelitis, Camptodactyly	ORPHA:88628
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu...	OMIM:618935
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair...	ORPHA:3226
Grubben-De Cock-Borghgraef Syndrome	Deviation of finger, Dry skin, Small hand, Eczema	ORPHA:2101
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc...	OMIM:603554
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Neonatal Lupus Erythematosus	Parakeratosis, Maculopapular exanthema, Skin rash, Autoimmune antibody positivity, Hyperkeratosis...	ORPHA:398124
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma	ORPHA:882
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Dry skin, Perianal erythema, Impaired T cell function, Perioral erythema	OMIM:201100
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture...	OMIM:617591
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Papule	ORPHA:530
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Skin ulcer	ORPHA:352723
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormality of the elbow, Hi...	ORPHA:1005
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Sea-Blue Histiocyte Disease	Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia	OMIM:269600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Sensorineural hearing impairment, Hyperkeratosis, Ichthyosis...	OMIM:618527
Interstitial Lung Disease 2	Clubbing of fingers, Increased circulating antibody level	OMIM:178500
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Snakebite Envenomation	Ecchymosis, Localized skin lesion, Erythema, Angioedema	ORPHA:449285
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa...	ORPHA:2686
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Chronic rhin...	OMIM:615225
Lead Poisoning	Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S...	ORPHA:330015
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Hand polydactyly, Ichthyosis, Foot polydac...	ORPHA:457
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Macule, Fasciitis, Myositis, Pericarditis, Hypermelanotic macule, Skin rash, Orchitis, Abnormal s...	ORPHA:32960
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Bone pain, Osteolysis, Lymphadenopathy, Bone marrow hypoce...	ORPHA:391
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Aplasia/hypoplasia involving bones of th...	ORPHA:221016
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Adult Syndrome	Finger syndactyly, Toe syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Thin skin, Dry skin	ORPHA:978
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Sensorineural hearing impairment, Hyperkeratosis, Joint ...	ORPHA:1883
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Decreased circulating co...	ORPHA:329918
Alpha-Mannosidosis	Hepatomegaly, Bowing of the long bones, Splenomegaly, Delayed skeletal maturation, Avascular necr...	ORPHA:61
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Autoimmunity	ORPHA:163703
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat...	ORPHA:2298
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Osteolysis...	ORPHA:1546
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Bone pain, Os...	ORPHA:35687
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Autoimmunity, Megaloblastic anemia, Anem...	OMIM:617780
Scleromyxedema	Sclerodactyly, Aged leonine appearance, Abnormality of the hand, Skin-colored papule, Thickened s...	ORPHA:167635
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections	OMIM:620210
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger ...	ORPHA:158687
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hidrotic Ectodermal Dysplasia	Abnormal metacarpophalangeal joint morphology, Thickened skin, Palmoplantar hyperkeratosis, Clubb...	ORPHA:189
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf...	OMIM:618108
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Noonan Syndrome 8	Eczema, Patent ductus arteriosus, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa	OMIM:615355
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity...	OMIM:617006
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin...	OMIM:608710
Mevalonic Aciduria	Low-set, posteriorly rotated ears, Splenomegaly, Delayed skeletal maturation	ORPHA:29
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Posteriorly rotated ears, Poor wound healing, Erythema, Elbow fl...	OMIM:618175
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Thrombocytopenia	OMIM:610333
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Abnormality of the...	ORPHA:85408
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Prominent superficial veins, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar mu...	OMIM:612350
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Facial erythema	OMIM:618307
Dermatomyositis	Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Autoimmunity, Pruritus,...	ORPHA:221
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Atelis Syndrome 1	Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Dry skin, Mic...	OMIM:620184
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Lymphaden...	OMIM:619183
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Abnormal mast cell morphology, Nevus	ORPHA:398189
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Abnormal pinna morphology, Perianal abscess, Clinodactyly, Small hand, Broad finger, Overfolded h...	OMIM:614684
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe...	OMIM:308205
Moynahan Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2574
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, M...	ORPHA:163966
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr...	ORPHA:64744
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu...	ORPHA:572
Eosinophilopenia	Allergic rhinitis, Autoimmunity, Decreased eosinophil count	OMIM:131430
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin	ORPHA:83452
Pseudoachondroplasia	Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Postinfectious Vasculitis	Rheumatoid factor positive, Subcutaneous nodule, Gastrointestinal inflammation, Bacterial endocar...	ORPHA:48435
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Pruritus, Hyperparakeratosis, ...	OMIM:614594
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Drug-Induced Lupus Erythematosus	Pericarditis, Antinuclear antibody positivity, Autoimmune antibody positivity, Decreased circulat...	ORPHA:231111
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul...	OMIM:228000
Ramon Syndrome	Conductive hearing impairment, Hyperkeratosis, Sensorineural hearing impairment, Telangiectasia o...	ORPHA:3019
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Generalized abnormalit...	ORPHA:94059
Toxic Epidermal Necrolysis	Macule, Acantholysis, Erythema, Skin ulcer, Conjunctivitis, Pancreatitis	ORPHA:537
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis	OMIM:116920
Nocardiosis	Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy...	ORPHA:31204
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Skin rash, Pruritus, Pustule, Skin nodule, Erythema, Myocarditis, An...	ORPHA:50918
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis, Hearing impairment	OMIM:619658
Eiken Syndrome	Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip...	ORPHA:79106
Van Den Bosch Syndrome	Anhidrotic ectodermal dysplasia, Scapular winging, Recurrent skin infections, Acrokeratosis	ORPHA:3417
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Familial Tumoral Calcinosis	Skin rash, Subcutaneous nodule, Erythema, Hypopigmented skin patches, Periarticular subcutaneous ...	ORPHA:53715
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Autoamputation of digits, Hepatocellular carcinoma, Microvesicular hepatic steatosi...	OMIM:256810
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Subcutaneous nodule, Skin ulcer, Protruding ear, Panniculitis, Scaling skin, Dry ...	ORPHA:2526
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Delayed skeletal maturation, Cholestasis, Reduced bone mine...	ORPHA:172
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, S...	ORPHA:900
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Erythema...	ORPHA:90307
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis, Tinnitus	ORPHA:863
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Metaphyseal sclerosis, Patellar aplasia,...	ORPHA:221008
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Patent ductus arte...	OMIM:607143
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythe...	ORPHA:324625
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing impairment, R...	OMIM:194350
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Thickened skin, Pa...	ORPHA:955
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Short metacarpal, Toe syndactyly, Verrucous papule	ORPHA:2611
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypop...	ORPHA:93315
Restrictive Dermopathy 1	Prominent superficial blood vessels, Rocker bottom foot, Epidermal hyperkeratosis, Congenital pse...	OMIM:275210
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Alopecia, Myositis, Pericarditis, Skin rash, Gastritis, Joint sti...	ORPHA:809
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp...	OMIM:235200
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Clubbing, Bronchiectasis, ...	OMIM:615468
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Abnormal limb bone morphology, Melanocytic nevus	ORPHA:1573
Epidermodysplasia Verruciformis	Recurrent skin infections, Telangiectasia of the skin, Seborrheic dermatitis, Pustule, Hypopigmen...	ORPHA:302
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c...	OMIM:619705
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating I...	ORPHA:319251
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Dense calvaria...	OMIM:252920
Lig4 Syndrome	Clinodactyly of the 5th finger, Cutaneous photosensitivity, Erythema, Telangiectasia of the skin	ORPHA:99812
Alg12-Cdg	Abnormal pinna morphology, Redundant skin, Partial absence of specific antibody response to Haemo...	ORPHA:79324
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent f...	ORPHA:565
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Congenital ichthyosiform erythroderma, Congenital nonbullous ich...	OMIM:616395
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Recurrent pneumonia, Telangiectasia, Hyperkeratosis, Palmoplan...	OMIM:604173
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Pachyonychia Congenita	Epidermoid cyst, Angular cheilitis, Palmoplantar blistering, Linear arrays of macular hyperkerato...	ORPHA:2309
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Antinuclear antibo...	ORPHA:449563
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis	OMIM:618535
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Eczema, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-...	OMIM:618162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Autoimmunity, Sclerosi...	ORPHA:166119
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease	OMIM:214900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Brachydactyly, Prematurely aged appearance, Thickened skin, Skin nod...	OMIM:601812
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,...	ORPHA:575
Relapsing Polychondritis	Macule, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Sensorineural he...	ORPHA:728
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphad...	ORPHA:158061
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s...	ORPHA:85212
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Urticaria, Erythroderma, Pruritus	ORPHA:280785
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Iritis	OMIM:109650
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Osteolytic defects of the phalanges of the hand, Autoamputation of digits, Acral ulceration, Foot...	OMIM:201300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia of the skin, Hearing impairment, Telangiectasia	ORPHA:79279
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Striae diste...	OMIM:219090
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata...	ORPHA:79301
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Congenital hip dislocation, Toe syndactyly,...	ORPHA:373
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins	OMIM:615907
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, ...	ORPHA:68
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG level, D...	OMIM:616005
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Sensorineural hearing impairment, Anemia, Abnorm...	ORPHA:290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab...	OMIM:617102
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Costello Syndrome	Low-set, posteriorly rotated ears, Redundant skin, Lack of skin elasticity, Ulnar deviation of fi...	ORPHA:3071
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Pruritus, Jaundice, Sclerosing cholangitis, Ichthyosis, Orth...	OMIM:607626
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Inflammation of the large intestine, Ascites, Lymphadenopathy	ORPHA:26790
Giant Cell Arteritis	Pericarditis, Skin ulcer, Arthritis, Conductive hearing impairment, Hearing impairment	ORPHA:397
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Palmar hyperlinearity, Orthokeratos...	OMIM:617337
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Short distal phalanx of the thumb, Psoriasiform dermatitis, Decreased l...	ORPHA:221139
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Gian...	OMIM:169400
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus, Difficulty walking, Rhe...	ORPHA:399180
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Pellagra-Like Syndrome	Skin rash, Ataxia	OMIM:260650
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Verrucous papule, Palmoplan...	ORPHA:79501
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Middle Ear Neuroendocrine Tumor	Sensorineural hearing impairment, Tinnitus, Chronic noninfectious lymphadenopathy, Unilateral con...	ORPHA:100084
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Adult Idiopathic Neutropenia	Increased circulating IgM level, Antineutrophil antibody positivity, Recurrent aphthous stomatitis	ORPHA:2688
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Re...	OMIM:619644
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Thrombocytopenia, Camptodactyly	OMIM:619751
Leprosy	Urticarial plaque, Hypopigmented macule, Autoamputation of digits, Skin nodule, Penetrating foot ...	ORPHA:548
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis	OMIM:610768
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Broad eyebrow, Osteomyelitis, Single transverse palmar crease, Abnormal abdomen mor...	OMIM:619475
Cushing Disease	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Skin ulcer, Recurrent cutaneous fungal...	ORPHA:96253
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Pancreatic hypoplasia, Hepatomegaly, Hepatospl...	OMIM:602782
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi...	OMIM:132450
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin lesion, Abnormality of th...	ORPHA:707
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Abnormal pelvis bone morphology, Eczema, Abnormality of the hand, Camptodactyly of ...	ORPHA:2273
Incontinentia Pigmenti	Maculopapular exanthema, Keratitis, Erythema, Uveitis, Hyperkeratosis, Pallor	OMIM:308300
Mevalonic Aciduria	Normocytic hypoplastic anemia, Posteriorly rotated ears, Skin rash, Fluctuating hepatomegaly, Flu...	OMIM:610377
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Sensorineural hearing impairment, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Wilson Disease	Hepatomegaly, Abnormality of the hand, Thrombocytopenia, Splenomegaly, Jaundice, Bone pain, Hepat...	ORPHA:905
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Pallor	ORPHA:90036
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Sensorineural hearing impairment, Uveitis, L...	ORPHA:36412
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Acne, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Dense calvaria, Hirsutism, H...	OMIM:252900
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Increased circulating IgG level, Long toe...	OMIM:619472
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Autoimmunity, Subcutaneous nodule, Arthrit...	ORPHA:36397
Restrictive Dermopathy	Camptodactyly of finger, Epidermal hyperkeratosis, Patent ductus arteriosus, Scaling skin, Dermal...	ORPHA:1662
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Low-set ears, Decreased ci...	OMIM:242860
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Intrinsic hand muscle atrophy, Hand muscle weakness	ORPHA:99965
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Mixed hearing impairment, Congenital sensorineural hearing impairment, Palmoplantar hyperkeratosi...	ORPHA:2698
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Clubbing, Bronchiectas...	OMIM:612387
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Skin rash, Bilateral sensorineural hearing impairment	OMIM:618321
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Subcutaneous nodule, Lip telangiec...	ORPHA:79280
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Protrudi...	OMIM:190351
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Cranio-Osteoarthropathy	Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation o...	ORPHA:1525
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt...	ORPHA:77259
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Autoimmunit...	ORPHA:206572
Stevens-Johnson Syndrome	Macule, Acantholysis, Erythema, Conjunctivitis, Pancreatitis	ORPHA:36426
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce...	ORPHA:35078
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Naxos Disease	Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis...	OMIM:601214
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Acne, Abnormality of the humerus, Preaxial hand polydactyly, Abnormali...	ORPHA:3098
Atypical Werner Syndrome	Short palm, Prominent superficial veins, Aplasia/Hypoplasia of the skin, Prematurely aged appeara...	ORPHA:79474
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Hearing impairment, Follicular hyperkeratosis, Protruding ear	ORPHA:1809
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormality of the vestibular n...	ORPHA:297
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Redundant skin, Thickened helices, Abnormal morphology of ulna...	ORPHA:1340
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat...	ORPHA:95455
Sunct Syndrome	Flushing, Facial erythema	ORPHA:57145
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, In...	OMIM:615895
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Splenomegaly, Abnormal tragus morphology, Sparse...	ORPHA:1133
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Bone pain, ...	OMIM:142680
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the skin, Toe syndactyl...	ORPHA:1896
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Flat acetabular roof, Cone-sha...	OMIM:184260
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Antinuclear antibody posi...	ORPHA:93552
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:3386
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia	OMIM:620296
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Joint hypermobility, Splenomegaly, Sensorineural hearing impairment,...	ORPHA:3473
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Donohue Syndrome	Hypermelanotic macule, Hyperkeratosis, Large hands, Low-set ears, Acanthosis nigricans, Macrotia	OMIM:246200
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl...	ORPHA:2905
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Recurrent fracture...	ORPHA:168569
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ...	ORPHA:238468
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormal pinna morphology, Split hand, Abnormal pelvic girdle bone mor...	OMIM:157900
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short...	OMIM:250220
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Jaundice, Increased ci...	ORPHA:99827
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Recurrent bact...	OMIM:214500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Pancytopenia, Autoimmunity, Antineutrophil antibody positivity...	ORPHA:228426
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ...	OMIM:230800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Pancytopenia, Posteriorly rotated ears, Single transverse palmar cre...	OMIM:613385
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Areflexia of upper limbs, Sensorin...	ORPHA:99956
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Tapered finger	OMIM:181600
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Osteoarthritis, Erythema, Peritonitis, Arthritis, Erysipelas, ...	ORPHA:342
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Igg4-Related Pachymeningitis	Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan...	ORPHA:449427
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, 2-3 toe syndactyly, Generalized hirsutism, Low posterior h...	OMIM:269921
Holocarboxylase Synthetase Deficiency	Ataxia, Eczema, Keratoconjunctivitis, Lethargy, Thrombocytopenia, Perioral eczema	ORPHA:79242
Primary Biliary Cholangitis	Autoimmunity, Increased circulating IgA level, Pruritus, Antinuclear antibody positivity, Jaundic...	ORPHA:186
Chronic Graft Versus Host Disease	Fasciitis, Poor wound healing, Thickened skin, Urinary bladder inflammation, Erythema, Intermitte...	ORPHA:99921
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Eczema, Erythema nodosum, Macrotia, Transient hypogammaglobuli...	ORPHA:3132
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of the uln...	OMIM:218600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Jaundice, Abnormal circulating interleukin c...	ORPHA:69665
Autoinflammation With Infantile Enterocolitis	Urticaria, Skin rash, Enterocolitis, Reduced natural killer cell activity	OMIM:616050
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hearing impairment, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Dense ca...	OMIM:252930
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ...	OMIM:615222
Mednik Syndrome	Sensorineural hearing impairment, Erythema, Ichthyosis	OMIM:609313
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Short toe, Atrophic scars, Gingival hyperkeratosis, Low-set ears, Limb undergrowt...	OMIM:225410
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Posteriorly rotated ears...	ORPHA:1427
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Hyperparaker...	ORPHA:276280
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Autoimmunity, Pneumo...	ORPHA:1855
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Hearing impairment	OMIM:120100
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Erythema, Talipes equinovarus, Low-set ears	OMIM:614653
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Synophrys, He...	OMIM:606003
Hatipoglu Immunodeficiency Syndrome	Eczema, Poor wound healing, Hyperpigmented/hypopigmented macules, Thickened skin, Atopic dermatit...	OMIM:620331
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Pneumocystosis	Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron...	ORPHA:723
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Arachnoda...	ORPHA:678
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Progressive hearing impairment,...	ORPHA:514
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Cutis marmorata, Autoimmunity, M...	ORPHA:183
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatospleno...	OMIM:260920
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Cupped ear, Hyperkeratosis, Hypomelano...	OMIM:617052
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomega...	OMIM:603553
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Sialidosis Type 1	Hyperkeratosis, Sensorineural hearing impairment, Vascular skin abnormality	ORPHA:812
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Fair hair, Posteriorly rotated ears, Chronic oral c...	OMIM:608233
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Limitation of join...	ORPHA:93474
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Numerous nevi, Posteriorly rotated ears, Atopic dermatit...	OMIM:115150
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Posteriorly rotated ears, Eczema, Livedo, Microtia, Low-set ears, Clinodac...	OMIM:618336
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Autoimmune thrombocytopenia, Metaphyseal sclerosis, Metaphyseal...	OMIM:607944
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Hip dislocation, Cheilitis, Skin ulcer, Protruding ear, Atypic...	ORPHA:534
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Microtia, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Low-set e...	OMIM:608013
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Bethlem Myopathy	Scapular winging, Interphalangeal joint contracture of finger, Camptodactyly of finger, Cigarette...	ORPHA:610
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Mgat2-Cdg	Low-set, posteriorly rotated ears, Posteriorly rotated ears, Patent ductus arteriosus, Abnormal e...	ORPHA:79329
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level	OMIM:617099
Arthrogryposis And Ectodermal Dysplasia	Atypical scarring of skin, Hyperkeratosis, Ectodermal dysplasia, Joint contracture of the hand, C...	OMIM:601701
Okur-Chung Neurodevelopmental Syndrome	Brachydactyly, Broad hallux, Single transverse palmar crease, Cupped ear, Decreased circulating a...	OMIM:617062
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of fin...	OMIM:601559
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Brachydactyly, Posteriorly rotated ears, Broad hallux, Short toe, Short metatar...	ORPHA:439822
Trichothiodystrophy 5, Nonphotosensitive	Cutaneous photosensitivity, Chronic decreased circulating IgG1, Cutis marmorata, Progeroid facial...	OMIM:300953
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Microt...	OMIM:277380
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short 5th metacarpal	ORPHA:66518
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Eczema, Sensorineural hearing impairment, Short toe, S...	OMIM:600430
Propionic Acidemia	Pancytopenia, Eczema, Thrombocytopenia, Osteoporosis, Neutropenia, Lethargy, Pancreatitis, Anemia	OMIM:606054
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Patent ductus arteriosus, Recurrent pneumonia, Metaphyseal widening, Clubbing, In...	OMIM:617303
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Autoimmunity, Autoimmune thrombocytopenia, Sensorineural hea...	ORPHA:760
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Large tarsal bones, Sensorineural hearing impairm...	OMIM:215150
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Abnormality of the hand, Thrombocytopenia, Short...	ORPHA:333
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Generalized hi...	ORPHA:2221
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Painless fractures due to injury, Aplasia of the sweat glands, Septic a...	ORPHA:642
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis, Brachydactyly	OMIM:616589
Antisynthetase Syndrome	Myositis, Skin rash, Telangiectasia of the skin, Autoimmunity, Pruritus, Myocarditis, Lack of ski...	ORPHA:81
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Chronic oral candidiasis,...	OMIM:615607
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Mucopolysaccharidosis Type 6	Sinusitis, Joint stiffness, Splenomegaly, Genu valgum, Chronic otitis media, Abnormal metaphysis ...	ORPHA:583
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Membranoproliferative glomerulonephritis, Epidermal hyperker...	OMIM:137940
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Joint stiffness, Splenomegaly, Sensorineural hearing impairme...	ORPHA:585
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Noonan Syndrome 2	Posteriorly rotated ears, Patent ductus arteriosus, Hyperkeratosis, Low-set ears, Nevus, Palmopla...	OMIM:605275
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal tubular epithe...	ORPHA:91500
Nicolaides-Baraitser Syndrome	Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan...	OMIM:601358
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis, Hearing impairment	ORPHA:99824
Wiedemann-Steiner Syndrome	Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Pa...	OMIM:605130
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Skin rash	ORPHA:33276
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe...	OMIM:267700
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hai...	ORPHA:667
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Pachyonychia Congenita 2	Subungual hyperkeratosis, Epidermoid cyst, Angular cheilitis, Palmoplantar hyperkeratosis, Follic...	OMIM:167210
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Sensorineural hearing impairment, Elbow flexion c...	OMIM:148210
Cystic Echinococcosis	Localized skin lesion, Jaundice, Urticaria, Membranous nephropathy, Increased circulating antibod...	ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Familial Benign Copper Deficiency	Anemia, Diaphyseal thickening, Acne	ORPHA:1551
Bloom Syndrome	Decreased circulating IgG level, Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating ...	ORPHA:125
Kanzaki Disease	Telangiectasia of the oral mucosa, Sensorineural hearing impairment, Lip telangiectasia, Angioker...	OMIM:609242
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder	ORPHA:70591
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Vici Syndrome	Decreased circulating IgG2 level, Sensorineural hearing impairment, Decreased circulating IgG level	ORPHA:1493
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Bone pain, Lymphadenopathy, Leukopenia, Neutropenia...	ORPHA:520
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Poor wound healing, Sensorineural hearing impairment, Skin ulcer, Bacterial endoca...	ORPHA:2072
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Single transverse palmar crease, Intermittent thrombocytopenia, Perianal abscess, E...	OMIM:612541
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Kaposiform Lymphangiomatosis	Abnormal humerus morphology, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the...	ORPHA:464329
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu...	ORPHA:227990
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Dengue Fever	Skin rash, Pruritus, Leukopenia, Lethargy, Thrombocytopenia	ORPHA:99828
Ullrich Congenital Muscular Dystrophy 1	Hip dislocation, Protruding ear, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity...	OMIM:254090
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met...	OMIM:602557
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Profound hearing impairment, Joint hypermobility, Microvesicular ...	OMIM:619418
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Hennekam Syndrome	Finger syndactyly, Lymphopenia, Camptodactyly of finger, Sparse axillary hair, Craniosynostosis, ...	ORPHA:2136
Ebola Hemorrhagic Fever	Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema	ORPHA:319218
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Dystrophic toenai...	OMIM:616028
Melas	Sensorineural hearing impairment, Erythema, Recurrent pancreatitis	ORPHA:550
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Hammertoe, Posteriorly rotated ears, Nevus	OMIM:620189
B4Galt1-Cdg	Inflammatory abnormality of the skin, Redundant neck skin, Low-set ears	ORPHA:79332
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Inflammatory abnor...	ORPHA:391487
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa...	OMIM:612474
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Telangiectasia...	OMIM:278800
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Noonan Syndrome 10	Patent ductus arteriosus, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Cubitus valgus, ...	OMIM:616564
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Immunodeficiency 47	Decreased circulating total IgG, Sensorineural hearing impairment, Decreased circulating antibody...	OMIM:300972
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Adult Syndrome	Toe syndactyly, Eczema, Split hand, Ectodermal dysplasia, Cutaneous photosensitivity, Split foot,...	OMIM:103285
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
W Syndrome	Hypoplasia of the ulna, Radial bowing, Acne, Elbow dislocation, Metatarsus adductus, Camptodactyl...	ORPHA:2804
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac...	OMIM:607765
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr...	OMIM:610984
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu...	ORPHA:227982
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S...	ORPHA:77258
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Decreased circulating anti...	ORPHA:79330
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Skin ulcer, Recurrent cutaneous fungal...	ORPHA:99889
Dubowitz Syndrome	Syndactyly, Sacral dimple, Eczema, Single transverse palmar crease, Protruding ear, Otitis media,...	OMIM:223370
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Martsolf Syndrome 1	Short palm, Short metacarpal, Posteriorly rotated ears, Metatarsus adductus, Slender ulna, Short ...	OMIM:212720
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Tubulointersti...	ORPHA:85450
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Thymoma	Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Anti-acetylch...	ORPHA:99867
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly...	OMIM:253260
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Posteriorly rotated ears, Eczema, Hyperkeratosis, Deep palmar crease, Multiple lentigines, Low-se...	OMIM:607721
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Brachydactyly, Eczema, Subcutaneous nodule, Rhizomelic arm short...	ORPHA:508542
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Abnormal fi...	ORPHA:3035
Liver Failure, Infantile, Transient	Jaundice, Decreased circulating IgG level	OMIM:613070
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ...	ORPHA:178320
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor wound healing, Recurrent pn...	OMIM:225400
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Protruding ear, Clinodactyly of the 5th finger, Short tibia, Short p...	OMIM:268305
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu...	ORPHA:85410
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Albinism, Splenomegaly, Low-set ears, Neutropenia, Macrotia	OMIM:617050
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume	OMIM:617443
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Pruritus, E...	ORPHA:324636
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Highly arched eyebrow, ...	OMIM:613563
Chops Syndrome	Curly hair, Thick hair, Hearing impairment, Tracheomalacia, Splenomegaly, Synophrys, Coarse hair,...	OMIM:616368
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ...	ORPHA:49041
Frank-Ter Haar Syndrome	Bowing of the long bones, Redundant neck skin, Acne, Metatarsus adductus, Flared metaphysis, Prot...	OMIM:249420
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Encephalitis Lethargica	Increased circulating antibody level, Autoimmunity	ORPHA:83600
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Lymphadenopathy	ORPHA:411703
Ataxia-Telangiectasia	Decreased circulating IgG level, Conjunctival telangiectasia, Sinusitis, Bronchiectasis, Cafe-au-...	OMIM:208900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormality of the epiphysis of the femoral head, Splenomegaly, Jaundice, Cholestas...	OMIM:618641
Andersen Cardiodysrhythmic Periodic Paralysis	Preauricular pit, Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small han...	OMIM:170390
Urachal Cyst	Peritonitis, Erythema	ORPHA:488
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Clubbing, Bronchiectasis, Kerato...	ORPHA:79128
Pearson Marrow-Pancreas Syndrome	Punctate keratitis, Erythema, Pallor	OMIM:557000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Clubbing, Acne, Seborrheic dermatitis	OMIM:614441
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym...	OMIM:617827
Woodhouse-Sakati Syndrome	Bilateral sensorineural hearing impairment, Scaling skin, Protruding ear	ORPHA:3464
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG l...	OMIM:612301
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Erythema, Hypopigmented skin patches, Abnormal ear...	ORPHA:2556
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal palmar dermatoglyphics...	OMIM:620040
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Low posterior hairline, Normochromic ane...	OMIM:611881
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Hypopigmentatio...	ORPHA:167
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Arachnodactyly, Poor wound healing, Abnormality of the hand, Sensorin...	ORPHA:536545
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural hearing impairment, Schistocytosi...	OMIM:616084
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Patent ductus arterios...	OMIM:614557
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cutis marmorata, Cholangitis, Eczema, Swelling of proximal ...	ORPHA:3260
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly...	ORPHA:235
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Fucosidosis	Acrocyanosis, Generalized hyperkeratosis, Hearing impairment, Vascular skin abnormality	ORPHA:349
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los...	OMIM:263700
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leuk...	ORPHA:536
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ramon Syndrome	Angiokeratoma, Telangiectasia, Hyperkeratosis, Juvenile rheumatoid arthritis, Hearing impairment	OMIM:266270
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis, Sk...	ORPHA:2909
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Splenomegaly, Anemia	ORPHA:30
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Thickened skin, Periosteal thickening of long tubular bones, Clubbin...	OMIM:167100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen...	OMIM:610199
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Subcutaneous nodule, Lack of skin elastici...	ORPHA:758
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Constrictive pericarditis, Decreased circulating ...	ORPHA:90363
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Prominent fingertip pads, Numerous nevi, Sacral dimple, Arachnodactyly, Ecze...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Prominent fingertip pads, Numerous nevi, Sacral dimple, Arachnodactyly, Ecze...	ORPHA:363958
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Stomatitis, Subcutaneo...	ORPHA:97280
Malt Lymphoma	Mediastinal lymphadenopathy, Posterior uveitis, Anemia, Lymphadenopathy	ORPHA:52417
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Prematurely aged appearance, Urticaria, Cutaneous photosensitivity, Dermal atrophy, Dr...	ORPHA:220295
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Thrombocytopenia	OMIM:614171
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Hearing impairment, Senso...	ORPHA:324
Sympathetic Ophthalmia	Erythema, Posterior uveitis, Tinnitus, Hearing impairment	ORPHA:79098
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Premature graying of hair, Low-set ears, Broad finger, Shor...	OMIM:300845
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Patent ductus arteriosus, Small hand, Decreased circulating total IgM, Hip dyspla...	OMIM:620005
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Pericarditis, Abnormal subcutaneous fat tissue distribution, Mac...	OMIM:212065
Reynolds Syndrome	Pruritus, Erythema nodosum, Jaundice, Antinuclear antibody positivity, Lip telangiectasia, Anti-c...	OMIM:613471
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Greenberg Dysplasia	Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Short phalanx of finger, Short metacarp...	OMIM:215140
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, D...	OMIM:608612
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den...	OMIM:620232
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Urticaria, Ar...	OMIM:615846
Multiple Endocrine Neoplasia Type 4	Subcutaneous lipoma, Erythema, Confetti-like hypopigmented macules, Esophagitis	ORPHA:276152
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Neutropenia, Stomatitis, Lethargy	ORPHA:79284
Good Syndrome	Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased circulating antibody level	ORPHA:169105
Opsismodysplasia	Short metacarpal, Posteriorly rotated ears, Rhizomelia, Squared iliac bones, Hypoplastic pubic bo...	OMIM:258480
Acute Interstitial Pneumonia	Bronchiectasis, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Cholangitis, Jaundice, Increased circulating antibody level, Cut...	ORPHA:284
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophil...	ORPHA:2035
Scorpion Envenomation	Myocarditis, Acute pancreatitis, Erythema, Purpura	ORPHA:466677
Cowden Syndrome	Macule, Brachydactyly, Hearing impairment, Subcutaneous nodule, Hypopigmented skin patches, Melan...	ORPHA:201
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Osteoglophonic Dysplasia	Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly, Abnormal morphology of ul...	ORPHA:1328
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Jaundice, Early ossification of capital femoral epiphyses, Cone-shaped ep...	OMIM:208500
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Zollinger-Ellison Syndrome	Jaundice, Erythema, Esophagitis	ORPHA:913
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thickened skin, Patent ductus arteriosus, Increased circulating IgM level, Deep palmar crease, Co...	ORPHA:505248
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Bartsocas-Papas Syndrome 1	Skin tags, Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short...	OMIM:263650
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Posteriorly rotated ears, Cholangitis, Rhizomelia, Phalangeal cone-shaped epiphyses, Postaxial ha...	OMIM:266920
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Primary Sclerosing Cholangitis	Autoimmunity, Spider hemangioma, Pruritus, Jaundice, Dilated superficial abdominal veins, Hepatit...	ORPHA:171
Vici Syndrome	Decreased circulating IgG level, Sensorineural hearing impairment, Decreased T cell activation, C...	OMIM:242840
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the...	ORPHA:97289
Vipoma	Erythema, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97282
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Bruising susceptibility, Melanocytic nevus	ORPHA:79430
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Allodynia	ORPHA:51890
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Follicul...	OMIM:158310
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Fine ...	OMIM:222700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ...	OMIM:143095
Neurotrophic Keratopathy	Anterior uveitis, Allodynia	ORPHA:137596
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Ataxia, Talipes equinovarus, Low-set ears	OMIM:616393
Aicardi-Goutières Syndrome	Myositis, Cutis marmorata, Chilblains, Autoimmunity, Increased circulating interferon-gamma conce...	ORPHA:51
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasia, Microtia, Split foot, Thin skin...	OMIM:129900
Japanese Encephalitis	Elbow flexion contracture, Increased circulating IgM level, Distal upper limb muscle weakness, In...	ORPHA:79139
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Proteus Syndrome	Subcutaneous nodule, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of t...	ORPHA:744
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Accelerated skeletal maturation, Splenomegaly, Large hands, Cir...	OMIM:608594
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o...	OMIM:620233
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Sensorineural hearing impairmen...	ORPHA:565612
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Accelerated skeletal maturation, Splen...	OMIM:269700
Al Amyloidosis	Bruising susceptibility, Increased circulating antibody level	ORPHA:85443
Marburg Hemorrhagic Fever	Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundice, Uveitis, Arthritis, Increas...	ORPHA:99826
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Erythema, Fragile skin	OMIM:614748
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Brachydactyly, Patent ductus arteriosus, Low-set ears, Mesomelia, Clin...	OMIM:616894
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level	OMIM:606002
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Polydactyly, Complete duplication of thumb ...	ORPHA:59315
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasia, Microtia, Split foot, Ectrodact...	OMIM:604292
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Sclerodactyly	OMIM:610644
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Inflammatory abnormality of the skin, Pneumonia	ORPHA:26793
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Osteopenia, Recurrent bacterial skin infections, Scarrin...	ORPHA:95159
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Pseudoxanthoma Elasticum	Civatte bodies, Yellow papule, Cutis laxa	OMIM:264800
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Alopecia, Maculopapular exanthema, Eosinophilia, Portal hypertens...	ORPHA:797
Monosomy 22Q13.3	Recurrent skin infections, Hair-pulling, Large hands, Clinodactyly of the 5th finger, Recurrent p...	ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Broad-based gait, Sandal gap, Eczema, Posteriorly rotated ears, Long fingers, Hair-...	OMIM:620330
Leprechaunism	Reduced subcutaneous adipose tissue, Thickened skin, Protruding ear, Hyperkeratosis, Large hands,...	ORPHA:508
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Talipes equinovarus, Epiphyseal stippling	OMIM:118650
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Hyperpigmented...	ORPHA:99646
Split Cord Malformation	Talipes equinovarus, Skin dimple, Penetrating foot ulcers, Talipes cavus equinovarus	ORPHA:573278
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Hearing impairment	OMIM:615510
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Lysinuric Protein Intolerance	Glomerulonephritis, Antinuclear antibody positivity, Decreased circulating antibody level, Abnorm...	ORPHA:470
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy	ORPHA:199241
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Pancreatitis, Pallor, ...	ORPHA:544482
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Short phala...	OMIM:305600
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrotic ectodermal dysplasia, Defective production of NFKB1-dependent cytokines, Dry skin	OMIM:612132
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Pruritus, Sensorineural hearing impairment, Short toe, Cone-shaped epiphyses of the phalanges of ...	OMIM:619269
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Nance-Horan Syndrome	Macrotia, Short phalanx of finger, Broad finger	OMIM:302350
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hyperkeratosis, Clinodactyly, Hallux valgus	ORPHA:75857
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatocellular necrosis	OMIM:618278
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme level, Hair-pulling, Splenomegaly, Bradykinesia, Arth...	ORPHA:2388
Yellow Fever	Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Jaundice, Incre...	ORPHA:99829
Parenteral Nutrition-Associated Cholestasis	Jaundice, Abnormality of cytokine secretion	ORPHA:567983
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri...	ORPHA:509
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
African Trypanosomiasis	Hepatomegaly, Alopecia, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Hepatosplen...	ORPHA:3385
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Absent thumb, Patent ductus arteriosus after birth at term, Secretory IgA deficie...	ORPHA:500150
Trichotillomania	Hair-pulling	OMIM:613229
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Thickened skin, Epidermal thickening, Clinodactyly of the 2nd finger, Orthokera...	ORPHA:73223
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Multiple joint contractures, Low-set ears, Protruding ear	ORPHA:447997
Benign Schwannoma	Allodynia, Abnormal fibula morphology	ORPHA:252164
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Ascites, Lymphadenopathy	ORPHA:538
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Broad hallux, Absent malleus, Conductive hearing impairment, 2-3...	OMIM:614188
Genitopatellar Syndrome	Hip contracture, Brachydactyly, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramu...	OMIM:606170
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh...	OMIM:601803

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.

Phenotype	Allele	Zygosity	Life Stage
Bone - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Spleen - hyperplasia	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Sternum - inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Femur - inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Ear - inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Eye with optic nerve - inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult

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 Pstpip2.

No publications found that use IMPC mice or data for Pstpip2.

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

MGI Allele	Allele Type	Produced
Pstpip2^{tm448163(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pstpip2^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue

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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Gene: Pstpip2 MGI:1335088

Gene Summary

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Phenotypes

lacZ Expression

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Eye Morphology

Human diseases caused by Pstpip2 mutations

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