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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
abnormal liver morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00
improved glucose tolerance	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.65×10^-05
increased circulating alkaline phosphatase level	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	9.44×10^-10
decreased erythrocyte cell number	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	3.84×10^-05
abnormal vertebrae morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.09×10^-14
decreased exploration in new environment	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	6.58×10^-06
abnormal seminal vesicle morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased bone mineral density	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	3.79×10^-06
decreased grip strength	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	2.61×10^-05
enlarged lymph nodes	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal tail morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	1.41×10^-07
decreased total body fat amount	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	4.52×10^-07
abnormal digit morphology	Pstpip2^em1(IMPC)Tcp	HOM	Early adult	5.81×10^-16

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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 Whole Body Lateral Orientation

15 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Histopathology

Images

18 Images

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Combined SHIRPA and Dysmorphology

Images

23 Images

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X-ray

XRay Images Hind Leg and Hip

15 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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Immunophenotyping

Panel A FCS file(s)

6 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 (1369 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	Skin ulcer, Increased circulating antibody level, Antiphospholipid antibody positivity, Erythemat...	ORPHA:90280
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormality of the wrist, Milia, Increased circulating IgE level, Atrophic scars, Hyperkeratosis,...	ORPHA:89843
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Skin nodule, Vasculitis in the skin, Reduced subcutaneous adipose ...	ORPHA:90159
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkerato...	OMIM:144200
Hypotrichosis Simplex Of The Scalp	Scaling skin, Parakeratosis, Epidermal acanthosis, Increased circulating IgE level, Hyperkeratosi...	ORPHA:90368
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized abnormality of skin, Annular cutaneous lesion, Hyperkeratotic papule, Palmoplantar hy...	ORPHA:737
Mal De Meleda	Abnormality of the hand, Epidermal acanthosis, Ichthyosis, Superficial dermal perivascular inflam...	ORPHA:87503
Familial Reactive Perforating Collagenosis	Erythematous papule, Abnormal epidermal morphology, Abnormal pinna morphology, Perifolliculitis, ...	ORPHA:79147
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de...	ORPHA:530838
Acquired Ichthyosis	Ichthyosis, Hyperkeratosis, Dry skin, Papule, Recurrent skin infections, Pruritus, Palmoplantar k...	ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 14	Scaling skin, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform ...	OMIM:617571
Necrobiosis Lipoidica	Abnormality of the hand, Skin ulcer, Indurated nodule, Atrophic scars, Abnormality of neutrophil ...	ORPHA:542592
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ...	OMIM:618944
Diffuse Palmoplantar Keratoderma, Bothnian Type	Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis, Papule, Pruritus	ORPHA:2337
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, White papule, Palmar pruritus, Atopic de...	ORPHA:498359
Ulerythema Ophryogenesis	Facial erythema, Contact dermatitis, Erythematous papule, Dry skin, Acne, Hyperkeratotic papule, ...	ORPHA:3406
Acral Peeling Skin Syndrome	Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Papule, Eczematoid dermatitis, Macu...	ORPHA:263534
Atrophoderma Vermiculata	Periauricular skin pits, Abnormal epidermal morphology, Atrophic scars, Hypoplastic pilosebaceous...	ORPHA:79100
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Psoriasiform lesion, Annular cutaneous lesion, Antiphospholipid antibody positivity, A...	ORPHA:163525
Cutaneous Mastocytoma	Scaling skin, Hypermelanotic macule, Maculopapular exanthema, Telangiectasia macularis eruptiva p...	ORPHA:79455
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Annular cutaneous lesion, Cutaneous photosensit...	ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplan...	OMIM:617526
Ichthyosis With Erythrokeratoderma	Scaling skin, Epidermal acanthosis, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenita...	OMIM:620507
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin	OMIM:146590
Chilblain Lupus 1	Skin ulcer, Cutaneous photosensitivity, Autoamputation of digits, Chilblains, Antinuclear antibod...	OMIM:610448
Vulvovaginal Gingival Syndrome	Epidermal acanthosis, Parakeratosis, Skin erosion, Pruritus, Abnormality of tumor necrosis factor...	ORPHA:83453
Iga Pemphigus	Generalized abnormality of skin, Annular cutaneous lesion, Neutrophilic infiltration of the skin,...	ORPHA:555905
Verrucous Hemangioma	Epidermal acanthosis, Inflammatory abnormality of the skin, Skin plaque, Hyperkeratotic papule	ORPHA:464318
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Clubbing of fingers, Increased circulating IgG level, Herpes simplex ence...	OMIM:618982
Pemphigus Foliaceus	Scaling skin, Annular cutaneous lesion, Psoriasiform dermatitis, Crusting erythematous dermatitis...	ORPHA:79481
Idiopathic Localized Lipodystrophy	Scaling skin, Morphea, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin,...	ORPHA:90158
Immunodeficiency 25	Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le...	OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis	Sensorineural hearing impairment, Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Porokeratosis Of Mibelli	Cutaneous photosensitivity, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis, Pruritus	ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Papule, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Annular Epidermolytic, 1	Scaling skin, Ichthyosis, Orthokeratosis, Hyperparakeratosis, Congenital bullous ichthyosiform er...	OMIM:607602
Progressive Symmetric Erythrokeratodermia	Palmoplantar keratoderma, Skin plaque, Erythema	ORPHA:316
Erythrokeratodermia Variabilis	Hypermelanotic macule, Cutaneous photosensitivity, Hyperkeratosis, Skin rash, Dry skin, Hearing i...	ORPHA:317
C1Q Deficiency 2	Recurrent otitis media, Facial erythema, Decreased circulating C1q concentration, Malar rash, Red...	OMIM:620321
Majeed Syndrome	Bone pain, Skin rash, Anemia of inadequate production, Delayed skeletal maturation, Hepatosplenom...	OMIM:609628
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Annular cutaneous lesion, Erythematous papule, Skin-colored papule, Crustin...	ORPHA:79148
Ichthyosis, Annular Epidermolytic, 2	Scaling skin, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:620148
Classic Mycosis Fungoides	Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatiti...	ORPHA:2584
Immunodeficiency 27B	Salmonella osteomyelitis, Generalized lymphadenopathy, Osteomyelitis	OMIM:615978
Pyoderma Gangrenosum	Skin ulcer, Increased circulating antibody level, Myositis, Atrophic scars, Papule, Rheumatoid ar...	ORPHA:48104
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Facial erythema, Pruritus on foot, Erythematous papule, Palmar pruritus, Eczematoi...	ORPHA:64745
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Increased circulating IgE level, Chronic mucocu...	OMIM:618282
Epidermolytic Hyperkeratosis 1	Scaling skin, Epidermal acanthosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar h...	OMIM:113800
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Congenital bull...	ORPHA:312
Immunodeficiency 27A	Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflammatory response,...	OMIM:209950
Peeling Skin Syndrome 1	Scaling skin, Increased circulating IgE level, Erythroderma, Palmoplantar hyperhidrosis, Pruritus	OMIM:270300
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule, Pruritus, Systemic lupus ery...	ORPHA:48377
Papa Syndrome	Skin ulcer, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, ...	ORPHA:69126
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Skin ulcer, Increased circulating IgE level, Recurrent bacterial skin infec...	ORPHA:217390
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Increased circulating IgE level, Papule, Pustule, Recurrent pneumonia	OMIM:616069
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased...	ORPHA:98813
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Increased circulating IgE level, Perianal erythema, Blepharitis, Pustule, Eryt...	OMIM:614328
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Bronchiectasis, Absence of lymph node germinal center, Autoimmune th...	OMIM:608184
Immunodeficiency 58	Chronic otitis media, Scaling skin, Seborrheic dermatitis, Decreased specific antibody response t...	OMIM:618131
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Papule, Hypergranulosis	OMIM:615696
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Anti-thyroid pe...	ORPHA:277
Neuropathy, Hereditary Sensory, Type Id	Nail dystrophy, Autoamputation of digits, Osteomyelitis	OMIM:613708
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Cutaneous photosensitivity, Papule, Skin plaque, Pruritus	ORPHA:33314
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Increased circulating IgA level, Skin rash, Anti-thyroglobulin a...	OMIM:618048
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Disseminated molluscum contagiosum, Atopic dermatitis...	OMIM:617638
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Hydroa Vacciniforme	Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivascular infl...	ORPHA:330058
Erosive Pustular Dermatosis Of The Scalp	Pustule, Skin erosion, Erythema, Scarring alopecia of scalp	ORPHA:222
Peeling Skin Syndrome 5	Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:617115
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Aplasia/Hypoplasia of the skin, Papule, Hyperkeratosis lenticularis perstans, Pruritus	ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 6	Scaling skin, Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythr...	OMIM:612281
Dermatofibrosarcoma Protuberans	Thickened skin, Subcutaneous nodule, Skin ulcer, Erythema	ORPHA:31112
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Skin plaque, Erythema	OMIM:617524
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyp...	OMIM:615598
Rosaï-Dorfman Disease	Subcutaneous nodule, Dysgammaglobulinemia, Papule, Erythema	ORPHA:158014
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent...	OMIM:616576
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Neutropenia...	OMIM:619220
Dermatitis, Atopic	Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjun...	OMIM:603165
Cutaneous Small Vessel Vasculitis	Purpura, Skin rash, Papule, Urticaria, Cutis marmorata, Subcutaneous nodule, Recurrent skin infec...	ORPHA:889
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Epidermal acanthosis, Increased circulating IgG level, Thyroiditis, ...	OMIM:617388
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi...	OMIM:601859
Netherton Syndrome	Parakeratosis, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Angioede...	OMIM:256500
Mastocytosis, Cutaneous	Hypermelanotic macule, Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis, Urtica...	OMIM:154800
Reticular Dysgenesis	Chronic otitis media, Skin ulcer, Skin rash, Decreased circulating antibody level, Hearing impair...	ORPHA:33355
Immunodeficiency, Common Variable, 11	Clubbing of fingers, Crohn's disease, Increased circulating IgE level, Decreased circulating IgG ...	OMIM:615767
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Clubbing, Eczematoid dermatitis, Keratit...	OMIM:618523
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Scaling skin, Parakeratosis, Psoriasiform lesion, Intermittent generalized erythematous papular r...	ORPHA:284426
Palmoplantar Keratoderma And Congenital Alopecia 2	Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Camptodactyly of finger, Palmoplantar h...	OMIM:212360
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Clubbing of fingers, Increased circu...	OMIM:618534
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Multiple cafe-au-lait spots, Papule, Cutaneous photosensitivity	ORPHA:1336
Netherton Syndrome	Ichthyosis, Acanthosis nigricans, Increased circulating IgE level, Decreased circulating antibody...	ORPHA:634
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Palmoplantar blistering, Milia	OMIM:131800
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym...	OMIM:613953
Psoriasis 2	Scaling skin, Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis	OMIM:602723
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess, Pyoderma gangrenosum	OMIM:619986
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels...	ORPHA:280779
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash, Skin nodule, Vasculitis in the skin, Skin vesicle	ORPHA:90000
Peeling Skin Syndrome 3	White scaling skin, Pruritus, Erythema	OMIM:616265
Keratoderma Hereditarium Mutilans With Ichthyosis	Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fing...	ORPHA:79395
Bathing Suit Ichthyosis	Scaling skin, Epidermal acanthosis, Parakeratosis, Ichthyosis, Autoamputation of digits, Thickene...	ORPHA:100976
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi...	OMIM:603909
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Scaling skin, Chilblains	OMIM:612952
Pressure-Induced Localized Lipoatrophy	Skin nodule, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Avascular ne...	ORPHA:53
Peeling Skin Syndrome 6	Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus	OMIM:618084
Dracunculiasis	Skin ulcer, Arthritis, Skin rash, Subcutaneous nodule, Recurrent cutaneous abscess formation, Pru...	ORPHA:231
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen...	ORPHA:210110
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Milia, Skin fragility with non-scarring blistering, Hyperkeratosis, Papule...	ORPHA:79399
Aplasia Cutis Congenita	Skin ulcer, Finger syndactyly, Aplasia cutis congenita over the scalp vertex, Congenital localize...	ORPHA:1114
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph...	OMIM:608971
Mal De Meleda	Perioral erythema, Congenital symmetrical palmoplantar keratosis, Brachydactyly, Ichthyosis	OMIM:248300
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Erythema, Scarring alopecia of scalp	ORPHA:346
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Milia, Cutaneous photosensitivity, Fragile skin, Thin skin, Dermal atrophy, Palmoplantar hyperker...	ORPHA:158673
Vibratory Urticaria	Urticaria, Facial erythema, Flushing, Dermatographic urticaria	OMIM:125630
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Epidermal acanthosis, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Fragi...	OMIM:616295
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Increased circulating IgE level, Brachydactyly, Hip dysplasia, Short dist...	ORPHA:1858
Peeling Skin Syndrome 4	Scaling skin, Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthoke...	OMIM:607936
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ichthyosis, Increased circulating IgE level, Erythroderma, Hypergranulosis, Eosinophilic infiltra...	OMIM:615508
Neutropenia, Chronic Familial	Periodontitis, Clubbing, Increased circulating antibody level, Clubbing of fingers	OMIM:162700
Kerion Celsi	Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec...	ORPHA:499
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome...	OMIM:612840
Ichthyosis With Confetti	Scaling skin, Ichthyosis, Clubbing, Congenital nonbullous ichthyosiform erythroderma, Palmoplanta...	OMIM:609165
Sting-Associated Vasculopathy, Infantile-Onset	Antiphospholipid antibody positivity, Increased circulating IgG level, Malar rash, Increased circ...	OMIM:615934
Prolidase Deficiency	Skin ulcer, Diffuse telangiectasia, Increased circulating antibody level, Petechiae, Eczematoid d...	OMIM:170100
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous icht...	OMIM:604777
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Acne Inversa, Familial, 3	Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis	OMIM:613737
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Di...	OMIM:259710
Bullous Pemphigoid	Anti-BP230 antibody positivity, Eczematoid dermatitis, Urticaria, Macule, Anti-BP180 antibody pos...	ORPHA:703
Transgrediens Et Progrediens Palmoplantar Keratoderma	Facial erythema, Diffuse palmoplantar hyperkeratosis, Recurrent bacterial skin infections, Angula...	ORPHA:495
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia	OMIM:619773
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,...	OMIM:613000
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Sensorineural hearing impairment, Skin rash, Arthritis, Abnormality...	ORPHA:47
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis	OMIM:617574
Congenital Panfollicular Nevus	Skin nodule, Verrucous papule, Hyperkeratosis	ORPHA:139414
Majeed Syndrome	Metaphyseal irregularity, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral den...	ORPHA:77297
Chronic Recurrent Multifocal Osteomyelitis 3	Bone pain, Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema	OMIM:613943
Pemphigus Erythematosus	Hypopigmented skin patches, Localized skin lesion, Malar rash, Focal dermal aplasia/hypoplasia, A...	ORPHA:79480
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Skin ulcer, Atopic dermatitis	OMIM:620603
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Milia, Atrophic scars, Hyperkeratosis, Skin erosion, Aplasia cutis congenita on trunk or limbs, P...	ORPHA:89838
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Abnormality of the internal au...	ORPHA:73
Boutonneuse Fever	Increased circulating IgG level, Petechiae, Skin rash, Skin nodule, Macule, Increased circulating...	ORPHA:83313
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der...	OMIM:619752
Ichthyosis Vulgaris	Ichthyosis, Absent keratohyalin granules, Dry skin, Eczematoid dermatitis, Palmar hyperlinearity	OMIM:146700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel...	OMIM:617241
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hypermelanotic macule, Hyperkeratosis, Abnormal skin morphology of the pa...	ORPHA:69125
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Ichthyosis, Increased circulating IgG level,...	OMIM:618495
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Prolidase Deficiency	Bilateral single transverse palmar creases, Skin ulcer, Genu valgum, Abnormal hip bone morphology...	ORPHA:742
Isolated Agammaglobulinemia	Clinodactyly of the 5th toe, Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthriti...	ORPHA:229717
Bazex Syndrome	Scaling skin, Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar keratoderma, Prur...	ORPHA:166113
Familial Cold Autoinflammatory Syndrome 3	Recurrent otitis media, Allergic rhinitis, Angioedema, Hashimoto thyroiditis, Antinuclear antibod...	OMIM:614468
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Angioma Serpiginosum	Macule, Vascular skin abnormality, Erythema	ORPHA:95429
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi...	ORPHA:3409
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ...	OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Epidermal acanthosis, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin,...	ORPHA:2269
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Increased circulating antibody level, Increased circulating IgG level, Incre...	ORPHA:169154
Pgm3-Cdg	Chronic otitis media, Sensorineural hearing impairment, Reduced antigen-specific T cell prolifera...	ORPHA:443811
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteolytic defects of the phalanges of the hand, Metatarsal fracture, Osteomyelitis	OMIM:615632
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus	OMIM:146750
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increased circul...	OMIM:243700
Benign Cephalic Histiocytosis	Histiocytosis, Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Immunodeficiency 23	Increased circulating IgG level, Sensorineural hearing impairment, Increased circulating IgE leve...	OMIM:615816
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Clubbing, Camptodactyly, Hypergranulos...	ORPHA:2199
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Papule, Pruritus, Hepatitis, Dermal atrophy	ORPHA:525
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, ...	OMIM:617525
Insulin Autoimmune Syndrome	Acanthosis nigricans, Increased circulating antibody level, Arthralgia/arthritis, Autoimmune anti...	ORPHA:411593
Maculopapular Cutaneous Mastocytosis	Generalized abnormality of skin, Macule, Darier's sign, Yellow papule, Pruritus, Flushing, Dermat...	ORPHA:79457
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilic infiltration of the esophagus, Recurrent skin infections, Increased circulating IgE ...	OMIM:620532
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Abnormal pinna morphology, Skin rash, Sinusitis, Conjunctivitis,...	ORPHA:33110
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid factor positive, Papule, Rheumatoid arthritis, Inflammatory abnormality of the skin, P...	ORPHA:79099
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal diaphysis morphology, Aplasia/Hypoplasia of the skin, Papule, Subcutaneous n...	ORPHA:2028
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Sjögren-Larsson Syndrome	Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Urticaria, Erythema	ORPHA:816
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:618985
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Pruritus	OMIM:105250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level,...	OMIM:606367
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Acrogeria	Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Aplasia/Hypoplasia of the skin,...	ORPHA:2500
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Increased circulating IgE level, Deep dermatophytosis	OMIM:212050
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Ichthyosis Hystrix Of Curth-Macklin	Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Autoamputation of digits, Recurr...	ORPHA:79503
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr...	OMIM:259700
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Generalized abnormality of skin, Skin ulcer, Increased circulating IgE leve...	ORPHA:2314
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc...	OMIM:619126
Leishmaniasis	Skin ulcer, Increased circulating antibody level, Papule, Rhinitis, Pallor, Skin plaque	ORPHA:507
Fanconi-Like Syndrome	Osteomyelitis, Pancytopenia	OMIM:227850
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule	OMIM:615327
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer, Telangiectasia of the skin, Autoimmunity, Mucosal telangi...	ORPHA:220402
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythrode...	OMIM:614457
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity, Erythema	ORPHA:281127
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteolytic defects of the phalanges of the hand, Autoamputation of digits, Osteomyelitis	OMIM:613115
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Osteomyelitis, Anterior cervical hypertrichosis	OMIM:239840
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased specific antibody response to vaccination, Recurrent sinusitis, Erythema nodosum, Thyro...	OMIM:614700
Bullous Impetigo	Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis	ORPHA:2202
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the wrist, Psoriasiform lesion, Abnormal shoulder morphology, Iritis, Malar rash, ...	ORPHA:85436
Erythema Of Acral Regions	Talipes equinovarus, Erythema	OMIM:227000
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Proliferating Trichilemmal Cyst	Skin ulcer, Epidermoid cyst	ORPHA:492
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Papule, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein ...	OMIM:247100
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Panniculitis, Increased circulating interleukin 6 concentration, Cystic acn...	OMIM:608068
Neuropathy, Hereditary Sensory, Type Iic	Intrinsic hand muscle atrophy, Autoamputation of digits, Acral ulceration	OMIM:614213
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule	ORPHA:2297
Diffuse Cutaneous Mastocytosis	Scaling skin, Generalized abnormality of skin, Thickened skin, Urticaria, Darier's sign, Erythrod...	ORPHA:79456
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Milia, Single transverse palmar crease, Ectodermal d...	OMIM:129200
Centrifugal Lipodystrophy	Scaling skin, Lymphadenitis, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue...	ORPHA:90156
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Antinuclear antibody positivity	OMIM:613495
Dowling-Degos Disease	Generalized abnormality of skin, Abnormality of the hand, Hypermelanotic macule, Palmar pits, Ery...	ORPHA:79145
Superficial Epidermolytic Ichthyosis	Ichthyosis, Thin skin, Palmoplantar keratoderma, Acantholysis, Erythema	ORPHA:455
Keratosis Pilaris Atrophicans	Comedo, Papule, Erythema	OMIM:604093
Livedoid Vasculopathy	Skin ulcer, Lupus anticoagulant, Erythematous papule, Macular purpura, Atrophic scars, Superficia...	ORPHA:542643
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Decreased circulating total IgM, Decreased circulating I...	OMIM:614878
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Autoimmune Hepatitis	Jaundice, Anti-smooth muscle antibody positivity, Increased circulating antibody level, Anti-live...	ORPHA:2137
Ichthyosis, Congenital, Autosomal Recessive 2	Short finger, Epidermal acanthosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Congen...	OMIM:242100
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Hyperimmunoglobulinemia D With Periodic Fever	Purpura, Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA level, Papule, Urtic...	ORPHA:343
Mycetoma	Pelvic mass, Abnormality of the hand, Abnormality of the lymphatic system, Recurrent bacterial sk...	ORPHA:2583
Kid Syndrome	Scaling skin, Prelingual sensorineural hearing impairment, Epidermal acanthosis, Delayed pubic bo...	ORPHA:477
Familial Benign Chronic Pemphigus	Hyperkeratosis, Skin vesicle, Acantholysis, Skin erosion, Erythema	ORPHA:2841
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Keratolytic Winter Erythema	Palmoplantar hyperhidrosis, Erythema	OMIM:148370
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Clubbing of fingers	OMIM:618973
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re...	OMIM:617585
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Hyperkeratosis, Penetrating foot ulcers, Hearing impairment, Poor wound healing, Oste...	ORPHA:36386
Dissecting Cellulitis Of The Scalp	Recurrent skin infections, Pruritus, Subcutaneous nodule	ORPHA:345
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Anemia, Osteolysis, Bone pain, Arthritis, Skin rash, Palmoplantar...	ORPHA:324964
Mycosis Fungoides	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus	OMIM:254400
Pachydermoperiostosis	Hepatomegaly, Anemia, Osteolysis, Avascular necrosis, Bone pain, Seborrheic dermatitis, Arthritis...	ORPHA:2796
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Avascular necrosis, Cholelithiasis, I...	ORPHA:232
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Erythema	OMIM:615821
Acute Radiation Syndrome	Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneu...	ORPHA:454831
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Scarring alopecia of scalp, Dry skin, Folliculitis, Blepharitis, Keratitis, Conj...	OMIM:308800
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis, Tapered finger	ORPHA:2812
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Variegate Porphyria, Childhood-Onset	Short finger, Milia, Cutaneous photosensitivity, Short metacarpal, Atopic dermatitis, Fragile ski...	OMIM:620483
Idiopathic Chronic Eosinophilic Pneumonia	Generalized abnormality of skin, Autoimmunity, Increased circulating IgE level, Atopic dermatitis	ORPHA:2902
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Dermatitis Herpetiformis	Eczematoid dermatitis, Macule, Urticaria, Pruritus, Skin vesicle, Autoimmunity, Erythema	ORPHA:1656
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus	ORPHA:158681
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n...	OMIM:615024
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, B lymphocytopenia, Optic neuritis, Hepatosplenomegaly, Anterior uveitis, Panuveitis...	OMIM:301081
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Skin ulcer, Ta...	ORPHA:1657
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,...	ORPHA:3261
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgE, Prominent stem of antihelix, Partial absence of specific antibody resp...	OMIM:619824
Acrokeratosis Verruciformis	Verrucous papule, Epidermal acanthosis, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hype...	OMIM:101900
Chilblain Lupus 2	Chilblains, Cutaneous photosensitivity	OMIM:614415
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Sweet Syndrome	Abnormality of the hand, Increased circulating interleukin 6 concentration, Panniculitis, Erythem...	ORPHA:3243
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Pemphigus Vulgaris	Anti-desmoglein-3 antibody positivity, Atypical scarring of skin, Urticaria, Anti-desmoglein-1 an...	ORPHA:704
Acute Generalized Exanthematous Pustulosis	Scaling skin, Cheilitis, Purpura, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunct...	ORPHA:293173
Neuropathy, Hereditary Sensory, Type Ie	Hearing impairment, Sensorineural hearing impairment, Osteomyelitis	OMIM:614116
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233710
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Psoriasis 14, Pustular	Epidermal acanthosis, Parakeratosis, Cholangitis, Pustule, Psoriasiform dermatitis, Erythema, Oli...	OMIM:614204
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Kimura Disease	Increased circulating IgE level	ORPHA:482
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Ectodermal dysplasia, Fragile skin, Palmoplantar hyperkeratosis, Palmoplantar blist...	OMIM:604536
Microscopic Polyangiitis	Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Cutis marm...	ORPHA:727
Bone Marrow Failure Syndrome 4	Rhizomelia, Decreased circulating antibody level, Low-set ears, Dry skin, Eczematoid dermatitis, ...	OMIM:618116
Catastrophic Antiphospholipid Syndrome	Abnormal circulating cytokine concentration, Myocarditis, Skin ulcer, Lupus anticoagulant, Antiph...	ORPHA:464343
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato...	OMIM:606545
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Hypoplasia of the ear c...	ORPHA:66661
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Piezogenic pedal papules, Hypergranulosis, Palmar hyperhidrosis, Yellow pap...	ORPHA:38
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Elbow flexion contracture, Sterile arthritis, Cystic acne, Acne, Pyoderma gangrenosum,...	OMIM:604416
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Psoriasiform dermatitis, Thyroiditis, Urticaria, Pneumonia, Autoimmune thrombocytopenia, Crusting...	ORPHA:37042
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin, Thin skin, Subcutaneous hemorrhage	ORPHA:743
Sydenham Chorea	Septic arthritis, Endocarditis, Erythema	ORPHA:306731
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, Neutrophilia,...	OMIM:612852
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:233690
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Thrombocytopenia 1	Petechiae, Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatiti...	OMIM:313900
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Osteomyelitis	OMIM:618010
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Sensorineural hearing impairment, Skin rash, Arth...	OMIM:611762
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Infantile Digital Fibromatosis	Skin nodule, Epidermal acanthosis, Parakeratosis, Hyperkeratosis	ORPHA:199267
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Purpura, Localized skin lesion, Acral ulceration, Vascular skin abno...	ORPHA:91139
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Sensorineural hearing impairment, Osteomyelitis	OMIM:162400
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin ulcer, Hyperkeratosis, Skin rash, Papule, Pruritus, Hepatitis, Erythema	ORPHA:1334
Fixed Drug Eruption	Generalized abnormality of skin, Stomatitis, Skin detachment, Erythematous plaque, Skin erosion, ...	ORPHA:293812
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Arthritis, Increased circulating IgE level, Eczematoid dermatitis, Anti-glutamic acid decarboxyla...	OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Jaundice, Abnormal immunoglobulin level, Increased circulating IgG leve...	ORPHA:276
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati...	OMIM:613502
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Increased circulating IgE level, Skin rash, Chronic mucocutaneous ca...	OMIM:102700
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Ichthyosis, Epiphyseal stippling, Scarring alopecia of scalp, Sensorineural hearing...	ORPHA:35173
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Reynolds Syndrome	Generalized abnormality of skin, Jaundice, Skin ulcer, Arthritis, Skin rash, Sclerodactyly, Telan...	ORPHA:779
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Buerger Disease	Livedo reticularis, Skin ulcer, Acrocyanosis	ORPHA:36258
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Hypoplastic pelvis,...	ORPHA:750
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Atrophic scars, Pruritus	OMIM:131850
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Recon Progeroid Syndrome	Scaling skin, Proximal placement of thumb, Cutaneous photosensitivity, Attached earlobe, Microtia...	OMIM:620370
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Crohn's disease, Perinuclear antineutrophil antibody positivity, Decre...	OMIM:618394
Immunodeficiency 50	Decreased circulating antibody level, Eczematoid dermatitis	OMIM:300988
Cryoglobulinemic Vasculitis	Purpura, Skin ulcer, Circulating immune complexes, Petechiae, Arthritis, Viral hepatitis, Cryoglo...	ORPHA:91138
Beta-Thalassemia Intermedia	Osteopenia, Cirrhosis, Reduced bone mineral density, Jaundice, Hepatomegaly, Cholelithiasis, Anem...	ORPHA:231222
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Foot osteomyelitis, Dystrophic toenail, Hammertoe	OMIM:600882
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Reduced circulating complement concentration, Nephritis, Autoimmunity	OMIM:216950
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Hennekam-Beemer Syndrome	Clinodactyly of the 5th finger, Microtia, Papule, Mastocytosis, Hearing impairment, Conductive he...	ORPHA:2135
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hirsutism, Low-set ears, Coronal craniosynostosis, Decreased calvarial ossification, ...	ORPHA:313855
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Congenital Disorder Of Glycosylation, Type If	Scaling skin, Hyperkeratosis, Erythroderma, Dry skin	OMIM:609180
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Graft Versus Host Disease	Scaling skin, Limited elbow movement, Dupuytren contracture, Jaundice, Fasciitis, Gastrointestina...	ORPHA:39812
Schnitzler Syndrome	Arthritis, Skin rash, Papule, Urticaria, Increased circulating IgM level, Macule, Pruritus	ORPHA:37748
Tempi Syndrome	Increased circulating IgG level, Facial erythema, Telangiectasia	ORPHA:284227
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Skin rash, Thrombocytopenia, S...	OMIM:603552
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderm...	OMIM:133200
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteolytic defects of the phalanges of the hand, Palmoplantar hyperkeratosis, Seborrheic dermatit...	OMIM:259100
Familial Keratoacanthoma	Hyperkeratosis, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:493
Riddle Syndrome	Scaling skin, Arthritis, Conjunctival telangiectasia, Decreased circulating IgG level, Chronic si...	ORPHA:420741
Aspergillosis	Localized skin lesion, Abnormal long bone morphology, Increased circulating IgE level, Bronchiect...	ORPHA:1163
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Skin fissure, Sensorineural hearing impairment, Thickened skin, Palmoplantar keratode...	ORPHA:659
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy...	OMIM:615559
Chronic Actinic Dermatitis	Hypopigmented skin patches, Epidermal acanthosis, Late onset atopic dermatitis, Cutaneous photose...	ORPHA:330064
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Skin ulcer, Ichthyosis, Abnormal hip bone morphology, Abnormal metaca...	ORPHA:2907
Ollier Disease	Abnormal metaphysis morphology, Skin ulcer, Subcutaneous nodule, Micromelia	ORPHA:296
Polyarteritis Nodosa	Skin ulcer, Pericarditis, Cutis marmorata, Subcutaneous nodule, Erythema	ORPHA:767
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Scarring alopecia of scalp, Sensorineural hearing impairment, Hyperkeratosis, Erythro...	OMIM:602540
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Familial Cold Urticaria	Sensorineural hearing impairment, Arthritis, Urticaria, Pruritus, Conjunctivitis, Erythema	ORPHA:47045
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, Hypergranulosis	OMIM:615022
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Joint hypermobility, Toe syndactyly, ...	OMIM:619218
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal acanthosis, Absent toe, Hypoplastic pelvis, Syndactyly, Epidermal nevus, Hyperkeratosis...	OMIM:308050
Olmsted Syndrome, X-Linked	Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Blepharitis, Po...	OMIM:300918
Pityriasis Rubra Pilaris	Ichthyosis, Erythroderma, Papule, Eczematoid dermatitis, Thickened skin, Pustule, Subungual hyper...	ORPHA:2897
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Clubbing of fingers, Fragile skin, Palmoplantar erythema, Palmoplantar...	OMIM:605676
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Localized skin lesion, Milia, Erythematous papule, Atrophic scars, Fragile skin, Atypical scarrin...	ORPHA:79410
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, H...	OMIM:613101
Cole Disease	Epidermal acanthosis, Hypopigmented macule, Hyperkeratosis, Hypergranulosis, Palmoplantar keratod...	OMIM:615522
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Osteomyelitis	OMIM:619423
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Hyperkeratosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, ...	ORPHA:79151
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Tibial bowing, Keratitis, Limb undergrowth, Recurrent fractures, Osteomyelitis	ORPHA:453510
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Abnormal circulating IgG level, Recurrent...	OMIM:615615
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Recurrent otitis media, Skin ulcer, Lupus anticoagulant, Panniculitis, Arthritis, Skin r...	OMIM:615688
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Abnormal finger morphology, S...	ORPHA:811
Meige Disease	Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections, Recurrent skin ...	ORPHA:90186
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hepatitis, Pericarditis, Thrombocytopenia, He...	ORPHA:781
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4...	OMIM:300853
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Aplasia Cutis-Myopia Syndrome	Skin ulcer, Aplasia cutis congenita	ORPHA:1117
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Distal upper limb muscle weakness, Autoamputation of digits, Osteomyelitis	OMIM:613640
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Dermatomyositis	Skin rash, Papule, Shawl sign, Pericarditis, Palmar hyperkeratosis, Myocarditis, Anti-histidyl tR...	ORPHA:221
Bloom Syndrome	Facial erythema, Clinodactyly of the 5th finger, Cutaneous photosensitivity, Malar rash, Bronchie...	OMIM:210900
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent...	OMIM:617514
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis	OMIM:104100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Decreased circulating total IgM, Urticaria	OMIM:618987
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Osteomyelitis	ORPHA:2218
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Furuncle, Recurrent sinusi...	OMIM:618969
Autosomal Erythropoietic Protoporphyria	Eczematoid dermatitis, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Macrotia, Congenital bullous ichthyosiform erythroderma, Syndactyly, Palmop...	OMIM:613576
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hypermelanotic macule, Milia, Cutaneous photosensitivity, Skin fragility with non-scarring bliste...	ORPHA:79397
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Chronic decreased circulating total IgG, Conjunctivitis, Recurrent sinusi...	OMIM:613493
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Generalized ichthyosis, Pruritus, Erythroderma, Dermatographic urticaria, A...	OMIM:608649
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Flexion contracture of toe, Increased circulating antibody level, Recu...	OMIM:256040
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Recurrent otitis media, Increased ...	OMIM:612783
Immunodeficiency, Common Variable, 6	Purpura, Complete or near-complete absence of specific antibody response to tetanus vaccine, Chro...	OMIM:613496
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s...	OMIM:617765
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Conjunctivitis, Dec...	OMIM:612692
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Discoid lupus rash, Recurrent bacterial skin infect...	OMIM:306400
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Osteopenia, Hepatomegaly, Impaired lymphoc...	OMIM:614162
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Hypermelanotic macule, Dry skin, Conjunctival telangiectasia, Palmoplantar keratode...	OMIM:618373
Darier Disease	Hypermelanotic macule, Thickened skin, Macule, Acrokeratosis, Palmoplantar keratoderma, Skin vesi...	ORPHA:218
Chromomycosis	Hypopigmented skin patches, Verrucous papule, Hyperparakeratosis, Erythematous macule, Vascular s...	ORPHA:182
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, Eczematoid dermatitis, Decreased circulating IgG level, Erythroderma, ...	OMIM:619510
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Immunoglobulin A Vasculitis	Purpura, Skin ulcer, Vascular skin abnormality, Arthritis, Skin rash, Episcleritis, Angioedema, U...	ORPHA:761
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Facial erythema, Scarring alopecia of scalp, Folliculitis, Blepharitis, Keratitis, Conjunctivitis...	OMIM:612843
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Anti-smooth muscle antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, ...	ORPHA:562639
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Decr...	ORPHA:508533
Congenital Syphilis	Myocarditis, Osteochondrosis, Anemia, Pancreatitis, Lymphadenopathy, Tibial bowing, Synovitis, He...	ORPHA:499009
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis...	OMIM:308230
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo...	OMIM:613736
Systemic Sclerosis	Nail bed telangiectasia, Thickened skin, Pericarditis, Anti-topoisomerase I antibody positivity, ...	ORPHA:90291
Mpdu1-Cdg	Scaling skin, Erythematous plaque, Ichthyosis, Eczematoid dermatitis	ORPHA:79323
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Decreased circulating IgG level, Protruding ear, Decreased circu...	OMIM:300861
Localized Scleroderma	Hypopigmented skin patches, Localized skin lesion, Fasciitis, Sclerosis of finger phalanx, Cutane...	ORPHA:90289
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Recurrent sinusitis, Decreased circulating total IgM, Agammaglob...	OMIM:619707
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp...	OMIM:615387
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Genu valgum, Decreased mean corpuscular hemog...	ORPHA:231226
Elastoderma	Premature skin wrinkling, Papule, Eczematoid dermatitis, Cutis laxa, Skin nodule, Erysipelas	ORPHA:228240
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Lamellar Ichthyosis	Chronic otitis media, Ichthyosis, Abnormal helix morphology, Hyperkeratosis, Dry skin, Lack of sk...	ORPHA:313
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczematoid dermatitis	OMIM:177000
Fountain Syndrome	Abnormal metacarpal morphology, Sensorineural hearing impairment, Papule, Cutis marmorata, Large ...	ORPHA:3219
Fusariosis	Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis, Keratitis,...	ORPHA:228119
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythrode...	OMIM:615023
Leopard Syndrome 3	Multiple lentigines, Cubitus valgus, Numerous nevi, Sensorineural hearing impairment, Hyperkerato...	OMIM:613707
Granulomatous Slack Skin	Cutis laxa, Redundant skin, Erythema	ORPHA:33111
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Myositis, Arthritis, Skin rash, Abnormality of the upper limb, Increased ...	ORPHA:36234
Brooke-Spiegler Syndrome	Nodular changes affecting the eyelids, Skin ulcer, Skin-colored papule, Hearing impairment, Skin ...	ORPHA:79493
Keratoderma Hereditarium Mutilans	Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Autoamputation of digits, Papule, H...	ORPHA:494
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par...	OMIM:620632
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Skin ulcer, Chronic sinusitis, Bronchiectasis	OMIM:604571
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hearing impairment, Hepatosplenomega...	OMIM:607115
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Pustule, Osteomyelitis	ORPHA:171876
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Roifman Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Clinodactyly of the 5th finger, Single tra...	OMIM:616651
Rat-Bite Fever	Scaling skin, Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymp...	ORPHA:31205
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Acquired Purpura Fulminans	Erythematous macule, Macular purpura, Skin rash, Macule, Acrocyanosis, Pyoderma gangrenosum	ORPHA:49566
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Decreased circulating IgG lev...	ORPHA:275
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Minimal change glomerulonephritis, Myositis, Increased circulating I...	OMIM:620565
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Jaundice, Increased circulating interleukin 6 concentration, Lupus anticoagulant, Arthri...	OMIM:620376
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Generalized abnormality of skin, Milia, Atrophic scars, Decreased circulating antibody level, Fra...	ORPHA:79396
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Aplasia/Hypoplasia of the skin, Subcutaneous n...	ORPHA:33577
Primary Sjögren Syndrome	Increased circulating antibody level, Optic neuritis, Cutis marmorata, Erythema nodosum, Glomerul...	ORPHA:289390
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Epidermolysis Bullosa, Lethal Acantholytic	Widely spaced toes, Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finge...	OMIM:609638
Olmsted Syndrome 2	Epidermal acanthosis, Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Palmopla...	OMIM:619208
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Facial erythema, Skin fissure, Unilateral deafness, Dry skin, Sclerodactyly, Flexio...	ORPHA:1010
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Hearing impa...	ORPHA:3194
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy, Conjunctivitis	OMIM:617772
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia	ORPHA:100025
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Decreased circulating antibody level, Ps...	OMIM:616100
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Hyperkeratosis, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca	ORPHA:1806
Brucellosis	Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Pneumonia, Septic arthriti...	ORPHA:1304
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ...	OMIM:615577
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Tubulointerstitial nephritis, Angioedema, Macule, Pustule, I...	ORPHA:139402
Immunodeficiency 109 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased spe...	OMIM:620282
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Crohn's diseas...	ORPHA:436159
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Reduced natural killer cell count, O...	OMIM:619381
Tularemia	Pneumonia, Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Inflam...	ORPHA:3392
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Genu valgu...	ORPHA:231214
Immunodeficiency 22	Chronic oral candidiasis, Decreased circulating total IgM, Panniculitis, Decreased circulating Ig...	OMIM:615758
Scedosporiosis	Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Pneumonia, Endocarditis, Osteomy...	ORPHA:449280
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:150550
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Premature graying of hair, Metaphyseal striations, Fra...	OMIM:112250
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Infantile Systemic Hyalinosis	Skin ulcer, Micromelia, Thickened skin, Urticaria, Short palm, Camptodactyly of finger, Telangiec...	ORPHA:2176
Coccidioidomycosis	Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:228123
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media	OMIM:312863
Takayasu Arteritis	Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Subcutaneous nodule, Increased inflam...	ORPHA:3287
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractures, Osteomye...	OMIM:608654
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Osteoporosis,...	ORPHA:98848
Singleton-Merten Syndrome 2	Hyperkeratosis, Osteolytic defects of the phalanges of the hand, Psoriasiform lesion	OMIM:616298
Immunodeficiency 43	Hypoplasia of the ulna, Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA...	OMIM:241600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Erythematous papule, Increased circulating IgE level, Otitis media, Pne...	OMIM:602450
Immunodeficiency 67	Septic arthritis, Increased circulating IgE level, Complete or near-complete absence of specific ...	OMIM:607676
Immunodeficiency 81	Autoimmune hemolytic anemia, Petechiae, Skin rash, Reduced antigen-specific T cell proliferation,...	OMIM:619374
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:618963
Familial Multiple Nevi Flammei	Hypermelanotic macule, Skin ulcer, Nevus flammeus, Abnormality of the upper limb, Papule	ORPHA:624
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Juvenile Dermatomyositis	Skin ulcer, Cutaneous photosensitivity, Myositis, Arthritis, Skin rash, Dry skin, Pericarditis, T...	ORPHA:93672
Chronic Granulomatous Disease	Hypermelanotic macule, Skin ulcer, Cutaneous photosensitivity, Inflammatory abnormality of the ey...	ORPHA:379
Roifman Syndrome	Bilateral single transverse palmar creases, Recurrent otitis media, Clinodactyly of the 5th finge...	ORPHA:353298
Darier-White Disease	Hypermelanotic macule, Palmar pits, Acrokeratosis, Acantholysis, Plantar pits, Pruritus, Subungua...	OMIM:124200
Insensitivity To Pain, Congenital, With Anhidrosis	Nail dystrophy, Autoamputation of digits, Sparse scalp hair, Keratitis, Osteomyelitis	OMIM:256800
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encephalitis	ORPHA:42642
Sapho Syndrome	Osteolysis, Bone pain, Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflamm...	ORPHA:793
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger ...	OMIM:148700
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Skin rash, Decreased circulating antibody level, Lymphadenitis, Redu...	ORPHA:331206
Angioedema, Hereditary, 1	Reduced circulating CH50 activity, Decreased circulating C1-esterase inhibitor concentration, Ang...	OMIM:106100
Neonatal Inflammatory Skin And Bowel Disease	Scaling skin, Generalized abnormality of skin, Recurrent bacterial skin infections, Blepharitis, ...	ORPHA:294023
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate, Prur...	OMIM:618531
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ...	OMIM:300635
Lichen Planus Pemphigoides	Hyperkeratosis, Blepharitis, Conjunctivitis, Skin vesicle, Pruritus	ORPHA:254478
Reactive Arthritis	Dystrophic fingernails, Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Pericarditis, ...	ORPHA:29207
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis, Nevus, Epidermal nevus	OMIM:176920
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczematoid dermatitis, Ichthyosis, Low-set, posteriorly rotated ears, Cutaneous photosensitivity	ORPHA:3055
Porphyria Cutanea Tarda	Scaling skin, Cutaneous photosensitivity, Recurrent bacterial skin infections, Viral hepatitis, F...	ORPHA:101330
Odontoonychodermal Dysplasia	Epidermal acanthosis, Dry skin, Hypergranulosis, Palmoplantar erythema, Plantar hyperkeratosis, P...	OMIM:257980
Calciphylaxis	Cutis marmorata, Skin ulcer, Abnormality of skin physiology	ORPHA:280062
Whim Syndrome 1	Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati...	ORPHA:169160
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Eczematoid dermatitis, Conjunctival telan...	OMIM:619774
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Recurrent fractures, Hepatomegaly, Splenomegaly	ORPHA:417
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Microsporidiosis	Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia...	ORPHA:2552
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Cubitus valgus, Lymphadenopathy, Avascular necrosis, Low-set ears, Recurrent pneumonia, Hepatospl...	OMIM:619750
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Purpura, Jaundice, Increased circulating interleukin...	ORPHA:540
Werner Syndrome	Premature graying of hair, Rocker bottom foot, Skin ulcer, Prematurely aged appearance, Hyperkera...	ORPHA:902
Ichthyosis, Congenital, Autosomal Recessive 1	Epidermal acanthosis, Ichthyosis, Parakeratosis, Erythroderma, Congenital nonbullous ichthyosifor...	OMIM:242300
Incontinentia Pigmenti	Hypopigmented skin patches, Skin ulcer, Finger syndactyly, Hyperkeratosis, Abnormal hand morpholo...	ORPHA:464
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Cheilitis, Milia, Cutaneous photosensitivity, Finger syndactyly, Periodonti...	ORPHA:2908
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Listeriosis	Myocarditis, Stiff neck, Jaundice, Pyelonephritis, Arteritis, Liver abscess, Splenic abscess, Hea...	ORPHA:533
Flynn-Aird Syndrome	Dermal atrophy, Skin ulcer, Progressive sensorineural hearing impairment	ORPHA:2047
Congenital Disorder Of Glycosylation, Type Iq	Ichthyosis, Hyperkeratosis, Low-set ears, Dry skin, Eczematoid dermatitis, Cutis laxa	OMIM:612379
Igg4-Related Kidney Disease	Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl...	ORPHA:449395
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph...	ORPHA:47612
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Limited elbow flexion	ORPHA:206594
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Decreased circulating total IgM, Decreased circulating IgG level, ...	ORPHA:2643
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Blau Syndrome	Skin ulcer, Flexion contracture of toe, Iritis, Intermittent generalized erythematous papular ras...	OMIM:186580
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Pili Torti-Onychodysplasia Syndrome	Abnormal pinna morphology, Ectodermal dysplasia, Generalized keratosis follicularis, Dry skin, Ec...	ORPHA:2890
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Bone pain, Thrombocytopenia, Splenomegaly, Erlenmeyer flask def...	OMIM:610539
Zika Virus Disease	Wrist swelling, Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Transient hearin...	ORPHA:448237
Trichothiodystrophy 1, Photosensitive	Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Dry skin, Decreased circulating IgG lev...	OMIM:601675
Focal Dermal Hypoplasia	Hypoplastic pelvis, Skin nodule, Macule, Split foot, Abnormal palmar dermatoglyphics, Upper limb ...	ORPHA:2092
Acrodermatitis Enteropathica	Generalized abnormality of skin, Cheilitis, Skin ulcer, Dry skin, Blepharitis, Pustule, Conjuncti...	ORPHA:37
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth...	OMIM:617021
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Transcobalamin Deficiency	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	ORPHA:859
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Recurr...	OMIM:619281
Glutamine Deficiency, Congenital	Camptodactyly, Low-set ears, Erythema, Micromelia	OMIM:610015
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Pneumonia, Recurren...	ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Low-set ears, Decreased circulating IgG level, Pneumonia, D...	OMIM:614069
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous papule, Skin ulcer, Panniculitis, Erythematous plaque	ORPHA:86884
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Clubbing, Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Reduced circulati...	OMIM:301220
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Broad-based gait, Short hallux, Gait ataxia, Eczematoid dermatiti...	OMIM:620393
Hurler-Scheie Syndrome	Hepatomegaly, Sensorineural hearing impairment, Abnormality of the tonsils, Limitation of joint m...	ORPHA:93476
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Rothmund-Thomson Syndrome, Type 1	Cafe-au-lait spot, Hyperkeratosis, Recurrent otitis media	OMIM:618625
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Wiskott-Aldrich Syndrome	Chronic otitis media, Spontaneous hematomas, Purpura, Skin ulcer, Petechiae, Arthritis, Abnormal ...	ORPHA:906
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer, Arthritis, Telangiectasia of the skin, Autoimmunity, Narrow foramen obturatorium	ORPHA:220393
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Thickened skin, Camptodactyly of finger, Thin skin	ORPHA:1658
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Patent ductus arteriosus, Hyperkeratosis, ...	OMIM:614576
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Beta-Thalassemia	Pallor, Skin ulcer, Hepatitis	ORPHA:848
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Sensorineural hearing impairment, Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Chime Syndrome	Skin ulcer, Ichthyosis, Aplasia/Hypoplasia of the phalanges of the toes, Hyperkeratosis, Short fo...	ORPHA:3474
Tarp Syndrome	Rocker bottom foot, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlo...	ORPHA:2886
Igg4-Related Submandibular Gland Disease	Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ...	ORPHA:449432
Omenn Syndrome	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymp...	ORPHA:39041
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Giant cell hepatitis, Jaundice, Hepatomegaly, Cholestasis, Prolonged neonatal jaundice, ...	ORPHA:79303
Rheumatic Fever	Myocarditis, Arthritis, Sinusitis, Macule, Pericarditis, Subcutaneous nodule, Pallor, Endocarditi...	ORPHA:3099
Methylmalonic Acidemia With Homocystinuria	Skin rash, Lethargy, Gait disturbance	ORPHA:26
Free Sialic Acid Storage Disease	Abnormality of the upper limb, Skin ulcer	ORPHA:834
Woolly Hair-Skin Fragility Syndrome	Palmoplantar keratoderma, Acantholysis, Fragile skin	OMIM:620415
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Melioidosis	Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Splenic abscess, Paro...	ORPHA:31202
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo...	OMIM:301078
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Ectodermal dysplasia, Abnormal circulating...	OMIM:300291
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hearing impairment, Thrombocytopenia, C...	ORPHA:858
Gaucher Disease	Joint stiffness, Delayed skeletal maturation, Leukopenia, Splenomegaly, Pathologic fracture, Oste...	ORPHA:355
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In...	OMIM:618213
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Cheilitis, Fragile skin, Recurrent pneumonia, Palmoplantar keratoderma, Recurrent s...	ORPHA:158668
Warty Dyskeratoma	Localized skin lesion, Erythematous papule, Skin-colored papule, Epidermal thickening, Acrokerato...	ORPHA:69745
Flynn-Aird Syndrome	Hyperkeratosis, Dermal atrophy, Progressive sensorineural hearing impairment	OMIM:136300
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Increased circulating ferritin concentratio...	OMIM:606069
Osteopetrosis, Autosomal Recessive 5	Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Increased bone ...	OMIM:259720
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Abno...	ORPHA:93352
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Cutaneou...	OMIM:618546
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Myoectodermal Gonadal Dysgenesis Syndrome	Scaling skin, Limited elbow extension, Sensorineural hearing impairment, Single transverse palmar...	OMIM:618419
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri...	ORPHA:183675
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Skin ulcer, Periodo...	ORPHA:1775
Pityriasis Rubra Pilaris	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous ...	OMIM:173200
Acromicric Dysplasia	Short long bone, Short metacarpal, Short foot, Thickened skin, Short palm, Short phalanx of finge...	OMIM:102370
Infantile Myofibromatosis	Abnormal metaphysis morphology, Skin ulcer, Subcutaneous nodule	ORPHA:2591
Xeroderma Pigmentosum, Complementation Group F	Hearing impairment, Papule, Erythema, Cutaneous photosensitivity	OMIM:278760
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Bone pain, Lymphopenia, ...	ORPHA:2686
Xeroderma Pigmentosum	Hypopigmented skin patches, Hypermelanotic macule, Cutaneous photosensitivity, Sensorineural hear...	ORPHA:910
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatosplenomegaly, ...	OMIM:619802
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Caffey Disease	Increased circulating antibody level, Periosteal thickening of long tubular bones, Cortical thick...	ORPHA:1310
Cinca Syndrome	Reduced bone mineral density, Anemia, Lymphadenopathy, Hepatomegaly, Inflammatory abnormality of ...	ORPHA:1451
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis...	ORPHA:85414
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:224750
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat...	OMIM:604117
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Decreased circulating IgE, Prostatitis, Enteroviral hepatitis, ...	OMIM:300755
Sézary Syndrome	Nail dystrophy, Hepatomegaly, Palmoplantar keratoderma, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:3162
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema, Angular cheilitis, Posterior blepharitis, Keratitis, ...	OMIM:619016
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Morphea	OMIM:620443
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis, Hypergranulosis	OMIM:148600
Aicardi-Goutieres Syndrome 1	Purpura, Antiphospholipid antibody positivity, Petechiae, Chilblains, Prolonged neonatal jaundice...	OMIM:225750
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Neonatal Lupus Erythematosus	Parakeratosis, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Skin rash, Autoimmune anti...	ORPHA:398124
Juvenile Arthritis	Skin rash, Thrombocytosis, Antinuclear antibody positivity, Leukocytosis	OMIM:618795
Interstitial Lung Disease 2	Increased circulating antibody level, Clubbing of fingers	OMIM:178500
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt...	ORPHA:100026
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone pain, Skin rash, Bone marrow hypocellularity, Splenomegaly, O...	ORPHA:391
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, S...	ORPHA:3226
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis, Epidermal acanthosis	OMIM:610227
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ...	OMIM:601952
Galactosemia Iii	Sensorineural hearing impairment, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Flexion contracture of finger, Osteomyelitis	ORPHA:88628
Trichorhinophalangeal Syndrome, Type Iii	Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ...	OMIM:190351
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Grubben-De Cock-Borghgraef Syndrome	Deviation of finger, Eczematoid dermatitis, Dry skin, Small hand	ORPHA:2101
Adult-Onset Still Disease	Myocarditis, Arthritis, Skin rash, Bone marrow hypocellularity, Pericarditis, Arthralgia/arthriti...	ORPHA:829
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Angioedema, Erythema	ORPHA:100057
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Leukopenia, Systemic lupus erythemato...	OMIM:616871
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis, Patent ductus arteriosus	OMIM:615147
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Panniculitis, Lymphadenopathy, Myositis, Arthritis, Skin rash, Sinusitis, C...	OMIM:617591
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Eczematoid dermatitis	OMIM:614493
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,...	OMIM:603554
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Dry skin, Impaired T cell function, Perioral erythema	OMIM:201100
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Skin ulcer	ORPHA:352723
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity, Lethargy	ORPHA:163703
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Sinusitis, Bone marrow hypocellularity, I...	ORPHA:2968
Immunodeficiency 112	Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased circulating total I...	OMIM:620449
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l...	OMIM:145250
Scleromyxedema	Generalized abnormality of skin, Abnormality of the hand, Skin-colored papule, Papule, Paraprotei...	ORPHA:167635
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Rickets of the lower limbs	ORPHA:882
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormal antihelix...	ORPHA:1005
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Lead Poisoning	Increased circulating IgE level, Tubulointerstitial nephritis, Abnormality of humoral immunity, S...	ORPHA:330015
Lipoid Proteinosis	Hyperkeratosis, Papule, Thickened skin, Pustule, Subcutaneous nodule, Acne	ORPHA:530
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lupus anticoagulant, Skin rash, Thrombocytopenia, Anterior uveitis, Antinuclear antibody positivi...	OMIM:616744
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair	OMIM:269600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Epidermal acanthosis, Parakeratosis, Ichthyosis, Acanthosis nigricans, Sensorineural hearing impa...	OMIM:618527
C3 Glomerulopathy	Decreased circulating complement C3 concentration, C3 nephritic factor positivity, Paraproteinemi...	ORPHA:329918
Malakoplakia	Skin ulcer, Skin rash, Papule, Inflammatory abnormality of the skin, Pruritus, Subcutaneous nodul...	ORPHA:556
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Erythroderma, Foot polydactyly, Hand polydactyly, Congenital ichthyos...	ORPHA:457
Snakebite Envenomation	Angioedema, Localized skin lesion, Ecchymosis, Erythema	ORPHA:449285
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Granulomatosis With Polyangiitis	Chronic otitis media, Skin ulcer, Perinuclear antineutrophil antibody positivity, Episcleritis, S...	OMIM:608710
Erdheim-Chester Disease	Abnormal metaphysis morphology, Anemia, Avascular necrosis, Increased bone mineral density, Bone ...	ORPHA:35687
Sillence Syndrome	Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocyto...	OMIM:152700
Atelis Syndrome 1	Microtia, Dry skin, Eczematoid dermatitis, Cafe-au-lait spot, Bronchiectasis, Decreased lymphocyt...	OMIM:620184
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Osteolys...	ORPHA:98850
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis, Parakeratosis, Ectodermal dysplasia, Chronic rhinitis, Palmoplantar keratod...	OMIM:615225
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Insulin-Resistance Syndrome Type B	Acanthosis nigricans, Increased circulating IgG level, Increased circulating IgA level, Skin rash...	ORPHA:2298
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Sensorineural hearing impairment, Hyperkeratosis, Hidrotic e...	ORPHA:1883
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Adult Syndrome	Skin ulcer, Finger syndactyly, Dry skin, Split foot, Thin skin, Melanocytic nevus, Toe syndactyly	ORPHA:978
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Cryptococcosis	Pneumonia, Prostatitis, Mediastinal lymphadenopathy, Cirrhosis, Peritonitis, Osteolysis, Lymphoid...	ORPHA:1546
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, Abnormal helix morphology, Abnormal pinna morphology, 4-5 finger ...	ORPHA:158687
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ...	OMIM:618108
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Hypermelanotic macule, Myositis, Arthritis, Skin rash, Macule, Pericarditis, Conjunctivitis, Erys...	ORPHA:32960
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Au...	OMIM:617006
Warburg-Cinotti Syndrome	Osteolytic defects of the phalanges of the hand, Follicular hyperkeratosis, Elbow flexion contrac...	OMIM:618175
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Limb undergrowth, Splenomegaly, Abnormal limb bone ...	ORPHA:2204
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections	OMIM:620210
Alpha-Mannosidosis	Chronic otitis media, Hepatomegaly, Avascular necrosis, Arthritis, Abnormal helix morphology, Syn...	ORPHA:61
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Hidrotic Ectodermal Dysplasia	Clubbing of fingers, Cobblestone-like hyperkeratosis, Hearing impairment, Thickened skin, Palmopl...	ORPHA:189
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc...	ORPHA:331235
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Noonan Syndrome 8	Hyperkeratosis, Low-set ears, Eczematoid dermatitis, Patent ductus arteriosus, Palmoplantar cutis...	OMIM:615355
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Panhypogammaglobulinemia, Sclerosing cholangitis...	ORPHA:572
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Abnormal ulnar metaphysis morphology, Facial erythema, Aplasia/hypoplasia i...	ORPHA:221016
Mevalonic Aciduria	Delayed skeletal maturation, Splenomegaly, Low-set, posteriorly rotated ears	ORPHA:29
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Blau Syndrome	Skin ulcer, Ichthyosis, Skin rash, Posterior uveitis, Dry skin, Papule, Synovitis, Camptodactyly ...	ORPHA:90340
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Eosinophilopenia	Autoimmunity, Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Tapered finger, Short ...	OMIM:612350
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the hand, Abnormality of the wrist, Anemia, Hip osteoarthritis, Lymphadenopathy, K...	ORPHA:85408
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Recurrent fract...	ORPHA:319487
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Flexion contr...	OMIM:619183
Complex Regional Pain Syndrome	Edema of the upper limbs, Dry skin, Erythema	ORPHA:83452
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid...	ORPHA:64744
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Nevus, Abnormal mast cell morphology	ORPHA:398189
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Perianal abscess, Abnormal pinna morphology, Overfolded helix, Short phalanx of fin...	OMIM:614684
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Facial erythema	OMIM:618307
Toxic Epidermal Necrolysis	Skin ulcer, Pancreatitis, Macule, Conjunctivitis, Acantholysis, Erythema	ORPHA:537
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Erythema, Increased circulating IgE level, Skin rash, Chronic mucocutan...	OMIM:147060
Griscelli Syndrome	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey...	ORPHA:381
Moynahan Syndrome	Sensorineural hearing impairment, Hyperkeratosis	ORPHA:2574
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Delayed skeletal ...	OMIM:612714
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Bronch...	OMIM:618986
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Hyperkeratosis, Abnormality of the calcaneus, Low-set ears, M...	ORPHA:163966
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Postinfectious Vasculitis	Increased circulating antibody level, Cutis marmorata, Cytoplasmic antineutrophil antibody positi...	ORPHA:48435
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu...	OMIM:177170
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Van Den Bosch Syndrome	Recurrent skin infections, Acrokeratosis, Scapular winging, Anhidrotic ectodermal dysplasia	ORPHA:3417
Olmsted Syndrome 1	Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, Autoamputation of digits, Subung...	OMIM:614594
Nocardiosis	Scleritis, Liver abscess, Thyroiditis, Lymphadenitis, Pericarditis, Keratitis, Peritonitis, Conju...	ORPHA:31204
Drug-Induced Lupus Erythematosus	Decreased circulating complement C3 concentration, Lupus anticoagulant, Petechiae, Malar rash, Pe...	ORPHA:231111
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Ramon Syndrome	Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impairment, Telangiectasia o...	ORPHA:3019
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Limitation of ...	OMIM:228000
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Uremic Pruritus	Abnormal circulating cytokine concentration, Generalized abnormality of skin, Dry skin, Papule, I...	ORPHA:94059
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Leukocytosis, Osteomyelitis, Periodontitis	OMIM:116920
Eiken Syndrome	Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Abnormal acetabulum morpholo...	ORPHA:79106
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Inflammatory Pseudotumor Of The Liver	Autoimmune antibody positivity, Increased hepatitis B virus antibody level	ORPHA:90003
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	ORPHA:79477
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Kikuchi-Fujimoto Disease	Myocarditis, Erythematous macule, Cutaneous photosensitivity, Malar rash, Skin rash, Papule, Skin...	ORPHA:50918
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Delayed skeletal maturation, S...	ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hearing impairment, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormality of the upper limb, Prominent superficial blood vessels, Cap...	ORPHA:90307
Familial Tumoral Calcinosis	Hypopigmented skin patches, Skin rash, Subcutaneous nodule, Periarticular subcutaneous nodules, E...	ORPHA:53715
Granulomatosis With Polyangiitis	Chronic otitis media, Purpura, Skin ulcer, Pancreatitis, Prostatitis, Inflammatory abnormality of...	ORPHA:900
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Ichthyosis follicularis, Follicular hyperkeratosis, Hyperkeratosis, Ectodermal dysp...	OMIM:308205
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Skin ulcer, Panniculitis, Dry skin, Thickened skin, Erysipelas, Subcutaneous nodule...	ORPHA:2526
Hajdu-Cheney Syndrome	Skin ulcer, Partial absence of toe, Periodontitis, Low-set ears, Dry skin, Bowing of the long bon...	ORPHA:955
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, Thrombocyto...	OMIM:614034
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Recurrent fractures	ORPHA:97290
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal	OMIM:112410
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Sensorineural hearing impairment, Abnormal pinn...	OMIM:607143
Poikiloderma With Neutropenia	Recurrent otitis media, Hyperkeratosis, Skin rash, Blepharitis, Dermal atrophy, Recurrent sinusit...	OMIM:604173
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:611926
Chikungunya	Maculopapular exanthema, Cutaneous photosensitivity, Petechiae, Arthritis, Skin rash, Synovitis, ...	ORPHA:324625
Trichinellosis	Conjunctivitis, Increased circulating IgE level, Tinnitus, Skin rash	ORPHA:863
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Sensorineural hearing impairment, Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Rift Valley Fever	Jaundice, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Hepatitis,...	ORPHA:319251
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Linear Verrucous Nevus Syndrome	Toe syndactyly, Hyperkeratosis, Verrucous papule, Short metacarpal	ORPHA:2611
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ...	ORPHA:93315
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Erysipelas, Splenomegaly, Neonatal cholestatic liver disease	OMIM:214900
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Keratoconjunctivitis sicca, Gastritis, Avascular necrosis, Mediastinal...	ORPHA:809
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Neutrophilia, Thrombocytopenia, S...	OMIM:226990
Spondyloepimetaphyseal Dysplasia, Krakow Type	Metaphyseal irregularity, Delayed pubic bone ossification, Rhizomelia, Irregular epiphyses, Clino...	OMIM:618162
Hypotrichosis With Juvenile Macular Degeneration	Melanocytic nevus, Hyperkeratosis, Abnormal limb bone morphology	ORPHA:1573
Restrictive Dermopathy 1	Scaling skin, Rocker bottom foot, Short clavicles, Prominent superficial blood vessels, Osteolyti...	OMIM:275210
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet...	OMIM:615468
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin, Eczematoid dermatitis, Blepharitis, Palmoplantar keratoderma, Pruritus	OMIM:618535
Alg12-Cdg	Clinodactyly of the 5th finger, Proximal placement of thumb, Partial absence of specific antibody...	ORPHA:79324
Lig4 Syndrome	Clinodactyly of the 5th finger, Telangiectasia of the skin, Erythema, Cutaneous photosensitivity	ORPHA:99812
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Abnormal ulnar metaphysis morphology, Facial erythema, Patellar hypoplasia,...	ORPHA:221008
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Seborrheic dermatitis, Multiple cafe-au-lait spots, Papule, Pustule, ...	ORPHA:302
Menkes Disease	Abnormal metaphysis morphology, Tarsal synostosis, Hypopigmentation of hair, Bowing of the long b...	ORPHA:565
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Premature Aging Syndrome, Penttinen Type	Slender long bone, Prematurely aged appearance, Sensorineural hearing impairment, Keloids, Tibial...	OMIM:601812
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Pachyonychia Congenita	Palmoplantar keratoderma, Cutaneous cyst, Linear arrays of macular hyperkeratoses in flexural are...	ORPHA:2309
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM...	OMIM:619705
Immunodeficiency 32A	Lymphadenopathy, Lymphadenitis	OMIM:614893
Trichothiodystrophy 3, Photosensitive	Ichthyosis, Cutaneous photosensitivity, Increased circulating IgA level, Low-set ears, Hearing im...	OMIM:616395
Secondary Non-Traumatic Avascular Necrosis	Difficulty walking, Limitation of joint mobility, Rheumatoid arthritis, Systemic lupus erythemato...	ORPHA:399180
Agammaglobulinemia 9, Autosomal Recessive	Sensorineural hearing impairment, Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis	OMIM:619693
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Idiopathic Non-Lupus Full-House Nephropathy	Decreased circulating complement C3 concentration, Arthritis, Skin rash, Reduced circulating comp...	ORPHA:567544
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Urticaria, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata...	ORPHA:79301
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Camptoda...	ORPHA:575
Fetal Gaucher Disease	Hepatomegaly, Low-set, posteriorly rotated ears, Pancytopenia, Thrombocytopenia, Abnormality of t...	ORPHA:85212
Relapsing Polychondritis	Myocarditis, Purpura, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Sensori...	ORPHA:728
Behcet Syndrome	Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum, Erythema	OMIM:109650
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Sinusitis, ...	ORPHA:449563
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Acral ulceration, Autoamput...	OMIM:201300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hearing impairment, Hyperkeratosis, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins	OMIM:615907
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Microtia, Congenital nonbullous ichthyosiform erythroderma, Dry skin, Erythema	OMIM:620510
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Hearing impairment, Joint stiffness, Splenome...	OMIM:252920
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Short 2nd finger, Finger synda...	ORPHA:373
Amyloidosis, Familial Visceral	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Incr...	ORPHA:158061
Pituitary Adenoma 4, Acth-Secreting	Purpura, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Poor wound healing, Str...	OMIM:219090
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis	OMIM:615735
Costello Syndrome	Acanthosis nigricans, Low-set, posteriorly rotated ears, Redundant skin, Hyperkeratosis, Lack of ...	ORPHA:3071
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, H...	ORPHA:169090
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment,...	ORPHA:290
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Increased circulating IgM level, Bronchiectasis, Autoimmunity, D...	OMIM:616005
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Sensorineural hearing impairm...	ORPHA:36412
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Mo...	OMIM:614868
Vexas Syndrome	Nasal chondritis, Arteritis, Macrocytic anemia, Sensorineural hearing impairment, Arthritis, Auto...	OMIM:301054
Giant Cell Arteritis	Skin ulcer, Arthritis, Hearing impairment, Conductive hearing impairment, Pericarditis	ORPHA:397
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Recurrent otitis media, Giant platelets, Upper limb undergrowt...	OMIM:169400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Scarring alopecia of scalp, Eczematoid dermatitis, Subungual hyperkeratosis, Palmar hyperlinearit...	OMIM:617337
Plague	Localized skin lesion, Carbuncle, Skin ulcer, Inflammatory abnormality of the eye, Acute infectio...	ORPHA:707
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures	OMIM:618107
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Chronic oral candidiasis, Clinodactyly of the 2nd finger, Broad ...	ORPHA:221139
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Jaundice, Ichthyosis, Sclerosing cholangitis, Dry skin, Orth...	OMIM:607626
Immunodeficiency 9	Recurrent aphthous stomatitis, Stomatitis, Ectodermal dysplasia, Decreased circulating IgG level,...	OMIM:612782
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Bowing of the long bones, Camptodactyly, Eczematoid dermatitis	OMIM:619751
Heyn-Sproul-Jackson Syndrome	Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals	OMIM:618724
O'Sullivan-Mcleod Syndrome	Intrinsic hand muscle atrophy, Increased circulating antibody level, Hand muscle weakness	ORPHA:99965
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Skin ulcer, Myocardial necrosis, Papule, Sinusitis, Pustule, Subcutaneous...	ORPHA:68
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Scaling skin, Internally rotated shoulders, Cutis laxa, Few cafe-au-lait sp...	OMIM:619503
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Viss Syndrome	Rocker bottom foot, Cutis laxa, Arachnodactyly, Long toe, Hip dislocation, Increased circulating ...	OMIM:619472
Middle Ear Neuroendocrine Tumor	Sensorineural hearing impairment, Unilateral conductive hearing impairment, Chronic noninfectious...	ORPHA:100084
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hearing impairment, Bone marrow hypocellularity, Hyperkeratosis, Enterocolitis	OMIM:301108
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Skin rash, Low-set ears, Le...	OMIM:610377
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the skin, Dry skin	OMIM:610768
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega...	OMIM:619644
Punctate Palmoplantar Keratoderma Type 1	Verrucous papule, Epidermal acanthosis, Abnormal epidermal morphology, Hypergranulosis, Palmoplan...	ORPHA:79501
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Systemic lupus erythematosus, Autoimmunity, Pallor	ORPHA:90036
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Genu valgum, Broad eyebrow, Talipes equinovarus, Tapered distal phalanges of finger, Ab...	OMIM:619475
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Leprosy	Verrucous papule, Iritis, Acral ulceration, Hypopigmented macule, Hyperkeratosis, Autoamputation ...	ORPHA:548
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Epiphyseal dysplasia, Conductive hearing impairment, Short phalanx of finger, Brachy...	OMIM:132450
Cushing Disease	Purpura, Skin ulcer, Plethora, Thin skin, Ecchymosis, Acne, Dorsocervical fat pad, Bruising susce...	ORPHA:96253
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the hand, Cheilitis, Ichthyosis, Hyperkeratosis, Oligodactyly, Ectrodactyly, Abnor...	ORPHA:2273
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineura...	OMIM:602782
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Incontinentia Pigmenti	Maculopapular exanthema, Hyperkeratosis, Keratitis, Pallor, Erythema, Uveitis	OMIM:308300
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Bowing of the legs, Lower limb undergrowth, Brachydactyly, Acne	OMIM:612847
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulat...	ORPHA:54251
Wilson Disease	Abnormality of the hand, Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Arthritis, B...	ORPHA:905
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis, Palmar pits	OMIM:618267
Poems Syndrome	Hepatomegaly, Metaphyseal sclerosis, Thrombocytosis, Clubbing of fingers, Lymphadenopathy, Sclero...	ORPHA:2905
Gaucher Disease Type 1	Ascites, Delayed skeletal maturation, Leukopenia, Splenomegaly, Erlenmeyer flask deformity of the...	ORPHA:77259
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkera...	ORPHA:79280
Adiposis Dolorosa	Arthritis, Dry skin, Telangiectasia of the skin, Subcutaneous nodule, Recurrent skin infections, ...	ORPHA:36397
Cholestasis-Lymphedema Syndrome	Cirrhosis, Reduced bone mineral density, Jaundice, Hepatomegaly, Bone pain, Abnormality of the ly...	ORPHA:1414
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Neutropenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis	OMIM:300299
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Bronchiectasis, Splenomegaly, Erythema nodos...	OMIM:612387
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Infectious encephalitis	ORPHA:83317
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo...	OMIM:257200
Restrictive Dermopathy	Scaling skin, Generalized hyperkeratosis, Low-set ears, Camptodactyly of finger, Patent ductus ar...	ORPHA:1662
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Skin rash, Bilateral sensorineural hearing impairment, Erythema	OMIM:618321
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def...	ORPHA:35078
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased ci...	OMIM:242860
Stevens-Johnson Syndrome	Pancreatitis, Macule, Conjunctivitis, Acantholysis, Erythema	ORPHA:36426
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Mixed hearing impairment, Congenital sensorineural hearing impairment, Palmoplantar hyperkeratosi...	ORPHA:2698
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Overlap Myositis	Subluxation of the small joints of the hand, Difficulty walking, Proximal muscle weakness in uppe...	ORPHA:206572
Cranio-Osteoarthropathy	Abnormal tibia morphology, Arthritis, Eczematoid dermatitis, Joint stiffness, Deviation of finger...	ORPHA:1525
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Hearing impairment, Joint stiffness, Splenome...	OMIM:252900
Naxos Disease	Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Fragile skin, Subungua...	OMIM:601214
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chilblains, Granuloma, Hepatosplenomegal...	OMIM:619858
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c...	ORPHA:79078
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Generalized abnormality of skin, Gastrointestinal inflammation, Renal tubular epithelial necrosis...	ORPHA:95455
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert...	ORPHA:59303
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormality of the humerus, Short dist...	ORPHA:3098
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Anti-smooth muscle antibody positivity, Cholangitis, Low-set, posteriorly rotated ears, Pancytope...	ORPHA:228426
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Splenomegaly, Infectious encephalitis	ORPHA:3386
Sunct Syndrome	Flushing, Facial erythema	ORPHA:57145
Cardiofaciocutaneous Syndrome	Multiple lentigines, Genu valgum, Excessive wrinkled skin, Low-set, posteriorly rotated ears, Dee...	ORPHA:1340
Hidrotic Ectodermal Dysplasia, Halal Type	Hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Follicular hyperkeratosis	ORPHA:1809
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Hepatomegaly, Pancytopenia, Single transverse palmar crease, Low-set ear...	OMIM:613385
Immunodeficiency 59 And Hypoglycemia	Recurrent aphthous stomatitis, Arteritis, Herpes simplex encephalitis, Complete or near-complete ...	OMIM:233600
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Bone pain, Skin rash, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Ce...	OMIM:142680
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Atypical Werner Syndrome	Premature graying of hair, Rocker bottom foot, Skin ulcer, Osteolytic defects of the phalanges of...	ORPHA:79474
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Myelitis, Increased circulating IgG level, Hearing i...	ORPHA:297
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy...	OMIM:184260
Pediatric Systemic Lupus Erythematosus	Systemic lupus erythematosus, Lupus anticoagulant, Antiphospholipid antibody positivity, Malar ra...	ORPHA:93552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, ...	OMIM:615895
Eec Syndrome	Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Sensorineural he...	ORPHA:1896
Aredyld Syndrome	Hepatomegaly, Abnormal tragus morphology, Low-set, posteriorly rotated ears, Sparse body hair, Sp...	ORPHA:1133
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas...	OMIM:274000
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Clubbing, Portal hypertension, Thro...	OMIM:620367
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis	OMIM:613148
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Common Variable Immunodeficiency	Chronic otitis media, Lymphadenopathy, Bronchiectasis, Abnormality of the liver, Splenomegaly, Ot...	ORPHA:1572
Hypohidrotic Ectodermal Dysplasia	Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Sinusitis, ...	ORPHA:238468
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Chronic Graft Versus Host Disease	Skin ulcer, Morphea, Keratoconjunctivitis sicca, Intermittent generalized erythematous papular ra...	ORPHA:99921
H Syndrome	Enlarged kidney, Lymphadenopathy, Recurrent fractures, Hallux valgus, Chronic rhinitis, Camptodac...	ORPHA:168569
Zimmermann-Laband Syndrome	Hepatomegaly, Deep palmar crease, Sensorineural hearing impairment, Generalized hypertrichosis, L...	ORPHA:3473
Donohue Syndrome	Hypermelanotic macule, Acanthosis nigricans, Hyperkeratosis, Low-set ears, Macrotia, Large hands	OMIM:246200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Spontaneous hematomas, Purpura, Jaundice, Myocarditis, Increased circulating I...	ORPHA:99827
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Redundant skin,...	OMIM:250220
Kawasaki Disease	Myocarditis, Cheilitis, Jaundice, Arthritis, Skin rash, Palmar edema, Scaling skin on fingertip, ...	ORPHA:2331
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival hyperkeratosis, Redundant skin, Atrophic scars, Low-set ears, Fragile skin, Short phalan...	OMIM:225410
Moebius Syndrome	Radial deviation of finger, Abnormal pinna morphology, Split hand, Abnormal pelvic girdle bone mo...	OMIM:157900
Hatipoglu Immunodeficiency Syndrome	Premature graying of hair, Recurrent otitis media, Hyperpigmented/hypopigmented macules, Petechia...	OMIM:620331
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Gaucher Disease, Type I	Hepatomegaly, Anemia, Avascular necrosis, Pancytopenia, Bone pain, Thrombocytopenia, Splenomegaly...	OMIM:230800
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Sensorineural hearing...	ORPHA:99956
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Periodontitis, Hepatomegaly, Silver-gray hai...	OMIM:214500
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Tapered finger	OMIM:181600
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment, Thrombocytopenia, Splenomegaly,...	ORPHA:294
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Holocarboxylase Synthetase Deficiency	Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Ataxia, Lethargy	ORPHA:79242
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Atelosteogenesis Type Ii	Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion...	ORPHA:56304
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ...	ORPHA:549
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ...	ORPHA:449427
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Say-Barber-Miller Syndrome	Panniculitis, Low-set, posteriorly rotated ears, Patellar hypoplasia, Erythema nodosum, Decreased...	ORPHA:3132
Sialuria	Hepatomegaly, 2-3 toe syndactyly, Hirsutism, Low-set ears, Hypoplastic nipples, Low posterior hai...	OMIM:269921
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Chronic mucocut...	ORPHA:79124
Autoinflammation With Infantile Enterocolitis	Urticaria, Skin rash, Reduced natural killer cell activity, Enterocolitis	OMIM:616050
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hepatomegaly, Abn...	ORPHA:83469
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Talipes equinovarus, Hand clenching, Low-set ears, Erythema	OMIM:614653
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B...	OMIM:615222
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Anti-dsDNA antibody positivity, Arthritis, Skin rash, ...	ORPHA:1855
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru...	OMIM:218600
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Eczematoid dermati...	OMIM:615607
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Leukocytosis, Hearing impairment, Conjunctivitis, Uveitis	OMIM:120100
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Hearing impairment, Joint stiffn...	OMIM:252930
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Pneumocystosis	Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Increased circula...	ORPHA:723
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Hyperparakeratosis, Seborrheic dermatitis, Microtia, Foot polydactyly, 2-4 toe synd...	ORPHA:276280
Mednik Syndrome	Sensorineural hearing impairment, Ichthyosis, Erythema	OMIM:609313
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Low-set ears, Synophrys, Thrombocytopenia, Hepatos...	OMIM:606003
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Myocarditis, Purpura, Myositis, Arthritis, Skin rash, Papule, Sinusit...	ORPHA:183
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Ichthyosis, Congenital, Autosomal Recessive 11	Congenital ichthyosiform erythroderma, Blepharitis, Hyperkeratosis, Pruritus	OMIM:602400
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, Hypo...	ORPHA:552
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatomegaly, Skin rash, Leuko...	OMIM:603553
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Progressive hearing impairment, Acute monocytic ...	ORPHA:514
Scheie Syndrome	Hepatomegaly, Sensorineural hearing impairment, Limitation of joint mobility, Joint stiffness, Rh...	ORPHA:93474
Adult Idiopathic Neutropenia	Increased circulating IgM level, Recurrent aphthous stomatitis	ORPHA:2688
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Severe periodontitis, Periodontitis, Cigarette-paper scars, Arachnoda...	ORPHA:678
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis,...	OMIM:607944
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan...	OMIM:180870
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphadenitis, Neu...	OMIM:260920
Familial Mediterranean Fever	Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Osteoarthritis, Peritonitis, Orchit...	ORPHA:342
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, A...	OMIM:608233
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Livedo, Microtia, Low-set ears, Eczematoid dermatitis, Cafe-au-lait spot, Posteriorly rotated ear...	OMIM:618336
Bone Marrow Failure Syndrome 3	Hypomelanotic macule, Hyperkeratosis, Congenital hip dislocation, Hearing impairment, Bone marrow...	OMIM:617052
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Adducted th...	OMIM:601559
Sialidosis Type 1	Sensorineural hearing impairment, Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses...	OMIM:271510
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp...	OMIM:611717
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Ichthyosis, Deep palmar crease, Cubitus valgus, Clinodactyly of the 5th fing...	OMIM:115150
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Short metatarsal, Short metacarpal, Broad metacarpals, Broad thumb, Interphalange...	OMIM:151200
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Bethlem Muscular Dystrophy	Curved toe phalanx, Elbow flexion contracture, Scapular winging, Wrist flexion contracture, Hyper...	ORPHA:610
Gaucher Disease, Perinatal Lethal	Purpura, Ichthyosis, Petechiae, Microtia, Hyperkeratosis, Low-set ears, Congenital nonbullous ich...	OMIM:608013
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Abnormal metaphysis morphology, Cheilitis, Skin ulcer, Genu valgum, Low-set...	ORPHA:534
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio...	ORPHA:83471
Mgat2-Cdg	Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Impaired platelet aggregation, De...	ORPHA:79329
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Systemic lupus erythematosus, Decreased ...	ORPHA:760
Typhoid	Skin rash, Ataxia, Splenomegaly, Lethargy, Infectious encephalitis	ORPHA:99745
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level, Panniculitis, Skin rash	OMIM:617099
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
Tylosis With Esophageal Cancer	Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis	OMIM:148500
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Ectodermal dysplasia, Dry skin, Camptodactyly, Atypical scarring of skin, Joint c...	OMIM:601701
Pde4D Haploinsufficiency Syndrome	Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa...	ORPHA:439822
Antisynthetase Syndrome	Myocarditis, Myositis, Arthritis, Skin rash, Telangiectasia of the skin, Lack of skin elasticity,...	ORPHA:81
Trichothiodystrophy 5, Nonphotosensitive	Progeroid facial appearance, Cutis marmorata, Cutaneous photosensitivity, Chronic decreased circu...	OMIM:300953
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sensorineural hearing impairment...	OMIM:215150
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly, Short 5th metacarpal	ORPHA:66518
Propionic Acidemia	Pancreatitis, Anemia, Pancytopenia, Osteoporosis, Eczematoid dermatitis, Thrombocytopenia, Lethar...	OMIM:606054
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Sensorineural hearing impairment, Short metacarpal, Short fourth metatarsal...	OMIM:600430
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Stomatitis, Skin rash, Microtia, Low-set ears, Megaloblastic anemia, Thromb...	OMIM:277380
Multiple Sulfatase Deficiency	Hepatomegaly, Sensorineural hearing impairment, Joint stiffness, Broad thumb, Thick eyebrow, Sple...	ORPHA:585
Mucopolysaccharidosis-Plus Syndrome	Clubbing, Flared iliac wing, Thickened skin, Bone marrow hypocellularity, Increased circulating I...	OMIM:617303
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epidermal acanthosis, Parakeratosis, Single transverse palmar crease, Seborrheic dermatitis, Low-...	ORPHA:83617
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fi...	ORPHA:2221
Adams-Oliver Syndrome 6	Portal hypertension, Foot oligodactyly, Splenomegaly, Syndactyly, Brachydactyly, Hepatic fibrosis	OMIM:616589
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Prominent interphala...	OMIM:601358
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Osteoporosis, Increased proportion ...	ORPHA:398063
Farber Disease	Abnormality of the hand, Short finger, Abnormality of the wrist, Anemia, Lymphadenopathy, Arthrit...	ORPHA:333
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Facial telangiectasia in butterfly midface distribution, Red...	OMIM:137940
Lassa Fever	Hearing impairment, Increased circulating IgM level, Jaundice, Conjunctivitis	ORPHA:99824
Primary Biliary Cholangitis	Gastrointestinal inflammation, Xanthelasma, Jaundice, Increased circulating IgA level, Antimitoch...	ORPHA:186
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Decreased circulating antibody l...	OMIM:617062
Hereditary Sensory And Autonomic Neuropathy Type 4	Anemia, Avascular necrosis, Painless fractures due to injury, Recurrent aspiration pneumonia, Sep...	ORPHA:642
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Leukopenia, ...	OMIM:267700
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Pachyonychia Congenita 2	Palmoplantar hyperkeratosis, Folliculitis, Angular cheilitis, Subungual hyperkeratosis, Palmoplan...	OMIM:167210
Kanzaki Disease	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae...	OMIM:609242
Hereditary Elliptocytosis	Prolonged neonatal jaundice, Skin ulcer, Jaundice	ORPHA:288
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Mucopolysaccharidosis Type 6	Chronic otitis media, Abnormal metaphysis morphology, Genu valgum, Sinusitis, Hearing impairment,...	ORPHA:583
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Increased circulating Ig...	ORPHA:91500
Kaposi Sarcoma	Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Bloom Syndrome	Cheilitis, Cutaneous photosensitivity, Skin rash, Decreased circulating antibody level, Uveitis, ...	ORPHA:125
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Wiedemann-Steiner Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, Patent ductus arteriosus, Sacral dimple, ...	OMIM:605130
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Elbow flexion contracture, Recurren...	OMIM:148210
Cystic Echinococcosis	Localized skin lesion, Jaundice, Increased circulating antibody level, Urticaria, Membranous neph...	ORPHA:400
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Myeloproliferative disorder, Osteomyelitis	ORPHA:70591
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Bone pain, Leukocytosis, Leukopenia, Thrombocy...	ORPHA:520
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Familial Benign Copper Deficiency	Diaphyseal undertubulation, Anemia, Acne	ORPHA:1551
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Lymphadenopa...	ORPHA:667
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal femur morphology, Anemia, Abnormality of the lymphatic system, Fracture...	ORPHA:464329
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Increased circulating antibody level, Maculopapular exanthema	ORPHA:319218
Adams-Oliver Syndrome 5	Dystrophic toenail, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Syndacty...	OMIM:616028
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Inflammation of the la...	OMIM:617718
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Nevus, Posteriorly rotated ears, Hammertoe	OMIM:620189
Vici Syndrome	Decreased circulating IgG level, Sensorineural hearing impairment, Decreased circulating IgG2 level	ORPHA:1493
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis...	OMIM:606895
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, Sensorineural hearing...	OMIM:612541
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Atresia of the external auditory canal, Mesomelia, Limb undergrowt...	OMIM:601356
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Sensorineural hearing impairment, Bacterial endocarditis, Poor wound healing, Ecchymo...	ORPHA:2072
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Dislocated radial head, Sensorineural hearing i...	ORPHA:1826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Hennekam Syndrome	Lymphadenopathy, Finger syndactyly, Abnormal pinna morphology, Low-set ears, Ascites, Conductive ...	ORPHA:2136
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Delayed epiphyseal ossification, Flared metaphysis, Micromelia, Coxa vara, Limb und...	OMIM:602557
Dengue Fever	Skin rash, Thrombocytopenia, Leukopenia, Lethargy, Pruritus	ORPHA:99828
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Ullrich Congenital Muscular Dystrophy 1A	Protruding ear, Hip dislocation, Increased laxity of fingers, Talipes equinovarus, Follicular hyp...	OMIM:254090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
B4Galt1-Cdg	Redundant neck skin, Inflammatory abnormality of the skin, Low-set ears	ORPHA:79332
Noonan Syndrome 10	Cubitus valgus, Hyperkeratosis, Low-set ears, Cafe-au-lait spot, Patent ductus arteriosus, Palmop...	OMIM:616564
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short metacarpal, Prolonge...	OMIM:210710
Noonan Syndrome 2	Redundant neck skin, Hypermelanotic macule, Cubitus valgus, Hyperkeratosis, Prominent fingertip p...	OMIM:605275
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Clinodactyly of the 5th finger, Patent ductus arteriosus, Sensorineural hearing impairment, Singl...	OMIM:612474
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
De Sanctis-Cacchione Syndrome	Hypermelanotic macule, Parakeratosis, Cutaneous photosensitivity, Sensorineural hearing impairmen...	OMIM:278800
Melas	Sensorineural hearing impairment, Erythema, Recurrent pancreatitis	ORPHA:550
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Sensorineural hearing i...	OMIM:300972
Mogs-Cdg	Sensorineural hearing impairment, Decreased circulating antibody level, Absent brainstem auditory...	ORPHA:79330
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Short metacarpal, Dry skin, Rhizomelic arm shortening, Hearing impairment, Bone mar...	ORPHA:508542
Martsolf Syndrome 1	Slender ulna, Talipes equinovarus, Low-set ears, Short metacarpal, Osteopathia striata, Metatarsu...	OMIM:212720
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Arthritis, Episodic hemolytic anemia, Reticulo...	OMIM:210250
Trichorhinophalangeal Syndrome Type 1	Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Macrotia, Short distal phalan...	ORPHA:77258
Adult Syndrome	Cutaneous photosensitivity, Ectodermal dysplasia, Split hand, Dry skin, Eczematoid dermatitis, Sp...	OMIM:103285
Thymoma	Aplastic anemia, Myositis, Rheumatoid arthritis, Pure red cell aplasia, Systemic lupus erythemato...	ORPHA:99867
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
W Syndrome	Hypoplasia of the ulna, Acne, Cubitus valgus, Camptodactyly, Metatarsus adductus, Upper lip pit, ...	ORPHA:2804
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia,...	ORPHA:160
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Cushing Syndrome Due To Ectopic Acth Secretion	Purpura, Skin ulcer, Plethora, Thin skin, Ecchymosis, Acne, Dorsocervical fat pad, Bruising susce...	ORPHA:99889
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly, Tubulo...	ORPHA:85450
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Abnormally low T cell receptor excision circle level, Lymphopenia, Eczematoid dermatiti...	OMIM:242700
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227990
Dubowitz Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Single transverse palmar crease, Low-set ears, Ecz...	OMIM:223370
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Splen...	OMIM:607765
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Thyroiditis, Chron...	ORPHA:391487
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Milroy Disease	Erysipelas, Hyperkeratosis	ORPHA:79452
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin...	ORPHA:70578
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Ichthyosis, Deep palmar crease, Cubitus valgus, Hyperkeratosis, Low-set ears...	OMIM:607721
Melkersson-Rosenthal Syndrome	Cheilitis, Inflammatory abnormality of the skin, Lymphadenopathy	ORPHA:2483
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Superficial dermal perivascular inflammatory infiltrate, Ecchymosis, ...	ORPHA:324636
Biotinidase Deficiency	Hepatomegaly, Sensorineural hearing impairment, Skin rash, Seborrheic dermatitis, Splenomegaly, C...	OMIM:253260
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Jaundice	OMIM:613070
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Lymphadenopathy	ORPHA:411703
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Arthritis, Rheumatoid arthritis, Antinuclear antibody positivity, Joint hype...	ORPHA:85410
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A...	ORPHA:178320
Lymphoid Interstitial Pneumonia	Skin rash, Clubbing, Eczematoid dermatitis, Rheumatoid arthritis, Autoimmune antibody positivity,...	ORPHA:79128
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Psoriasiform dermatitis, Thrombocytopenia, Eczematoid dermatitis	OMIM:617443
Chops Syndrome	Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Aspiration pneumonia, Curly hair, He...	OMIM:616368
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Low-set ears, Macrotia, Splenomegaly, Albinism, Neutropenia	OMIM:617050
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification...	OMIM:614613
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Sacral dimple, Abnormal earlobe morphology, Aplasia/Hypoplasia of the...	ORPHA:2556
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227982
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Excessive wrinkled skin, Molluscoid pseudotumors, Congenital hip dislocation, Arachnodactyly, Pro...	OMIM:225400
Frank-Ter Haar Syndrome	Redundant neck skin, Acne, Flared metaphysis, Prominent coccyx, Short long bone, Low-set ears, Bo...	OMIM:249420
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I...	ORPHA:542323
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level	ORPHA:83600
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:90362
Andersen Cardiodysrhythmic Periodic Paralysis	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,...	OMIM:170390
Pearson Marrow-Pancreas Syndrome	Punctate keratitis, Pallor, Erythema	OMIM:557000
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Abnormality of the ...	OMIM:618641
Urachal Cyst	Peritonitis, Erythema	ORPHA:488
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Renal tubular epithelial necrosis, Normocytic a...	ORPHA:49041
Immunodeficiency 55	Lymphadenopathy, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natural ki...	OMIM:617827
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Abnormal palmar dermatoglyphics, Decreased circulating IgA level...	OMIM:620040
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total...	OMIM:612301
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Cholangitis, Arthritis, Clubbing, Papule, Eczematoid dermatitis, Angioedema, Urtica...	ORPHA:3260
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Osteolysis, Hepatomegaly, Cholelithiasis, Loss of eyelashes, Alopecia, Abse...	OMIM:263700
Phoar2-Enteropathy Syndrome	Thickened skin, Seborrheic dermatitis, Clubbing, Acne	OMIM:614441
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Cubitus valgus, Highly arched eyebrow, Low-set ears, Low poster...	OMIM:613563
Woodhouse-Sakati Syndrome	Protruding ear, Bilateral sensorineural hearing impairment, Scaling skin	ORPHA:3464
Smith-Mccort Dysplasia 1	Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Short metacarpal, Iliac crest serration...	OMIM:607326
Fucosidosis	Hearing impairment, Generalized hyperkeratosis, Vascular skin abnormality, Acrocyanosis	ORPHA:349
Dubowitz Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Cut...	ORPHA:235
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Leukocytosis, Leukopenia, Thrombo...	ORPHA:292
Kyphoscoliotic Ehlers-Danlos Syndrome	Abnormality of the hand, Follicular hyperkeratosis, Sensorineural hearing impairment, Shoulder di...	ORPHA:536545
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Cafe-au-lait spot, Sinusitis, Bronc...	OMIM:208900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Sensorineural hearing impairment,...	OMIM:616084
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Hearing impairment, Splenomegaly, Abnormality o...	ORPHA:33226
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Ramon Syndrome	Hyperkeratosis, Hearing impairment, Angiokeratoma, Juvenile rheumatoid arthritis, Telangiectasia	OMIM:266270
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Decreased circulating IgG1 level, Decreased circulating tot...	ORPHA:90363
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Mixed hearing impairment, Atrophic scars, Cutis laxa, Conductive hearing impairment, High-frequen...	OMIM:614557
Pseudoxanthoma Elasticum	Acne, Excessive wrinkled skin, Skin rash, Lack of skin elasticity, Telangiectasia of the skin, Su...	ORPHA:758
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Sacral dimple, Numerous nevi, Ichthyosis, Hyperkeratosis, Ectodermal dysp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Sacral dimple, Numerous nevi, Ichthyosis, Hyperkeratosis, Ectodermal dysp...	ORPHA:363958
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Low-set, posteriorly rotated ears	ORPHA:30
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Seborrheic dermatitis, Periosteal thickening of long tubular bones, Thickene...	OMIM:167100
Reynolds Syndrome	Jaundice, Lip telangiectasia, Anti-centromere antibody positivity, Erythema nodosum, Sclerodactyl...	OMIM:613471
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Pachyonychia Congenita 3	Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ...	OMIM:615726
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Thrombocytopenia, Leukopenia	OMIM:614171
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Sensorineural hearing impairment, Pancreatic hypoplasia, ...	OMIM:610199
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Congenita...	OMIM:114300
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cutaneous photosensitivity, Prematurely aged appearance, Skin rash, Dry skin, Hearing impairment,...	ORPHA:220295
Inflammatory Bowel Disease 25, Autosomal Recessive	Pancolitis, Perianal abscess, Folliculitis, Enterocolitis	OMIM:612567
Glucagonoma	Stomatitis, Skin rash, Intermittent jaundice, Subcutaneous lipoma, Necrolytic migratory erythema,...	ORPHA:97280
Malt Lymphoma	Posterior uveitis, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Low-set ears, Hip dysplasia, Decreased circulating IgG level, Patent ductus arteriosus,...	OMIM:620005
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:275350
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Premature graying of hair, Broad finger, Abnormal hand morphology, Low-set ears, Short phalanx of...	OMIM:300845
Fabry Disease	Abnormal femur morphology, Sensorineural hearing impairment, Hyperkeratosis, Arthritis, Hearing i...	ORPHA:324
Sympathetic Ophthalmia	Hearing impairment, Tinnitus, Posterior uveitis, Erythema	ORPHA:79098
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Knee osteoarthritis, Abnormality of the lymphatic system, Lymp...	ORPHA:2035
Greenberg Dysplasia	Short long bone, Short metacarpal, Bone marrow hypocellularity, Mesomelia, Tetraphocomelia, Short...	OMIM:215140
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Metaphyseal striations, Malar rash, Aplasia/Hypoplasia of the patella, Sk...	ORPHA:2909
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Decreased circulating IgG level, Macrotia, Pericar...	OMIM:212065
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, Lymphopenia, Erythroderma, ...	ORPHA:247353
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Arthritis, Skin rash, Chilblains, Atopic dermatitis, Urtica...	OMIM:615846
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Skin rash, Megaloblastic anemia, Lethargy, Neutropenia	ORPHA:79284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Recurrent otitis media, Mediastinal lymphadenopathy, Hepatomegaly, Hilar lymph node enlargement, ...	OMIM:620233
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Good Syndrome	Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis	ORPHA:169105
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur...	OMIM:620232
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Short clavicles, Osteolytic defects of the distal phalanges...	OMIM:608612
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Multiple Endocrine Neoplasia Type 4	Confetti-like hypopigmented macules, Subcutaneous lipoma, Esophagitis, Erythema	ORPHA:276152
Alveolar Echinococcosis	Jaundice, Cholangitis, Increased circulating antibody level, Abnormal pelvis bone morphology, Cut...	ORPHA:284
Scorpion Envenomation	Myocarditis, Purpura, Acute pancreatitis, Erythema	ORPHA:466677
Osteoglophonic Dysplasia	Broad metacarpals, Rhizomelia, Short metatarsal, Low-set ears, Short metacarpal, Broad metatarsal...	OMIM:166250
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Acute Interstitial Pneumonia	Bronchiectasis, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Low-set ears, Flat acet...	OMIM:258480
Primary Sclerosing Cholangitis	Jaundice, Palmar telangiectasia, Pancreatitis, Spider hemangioma, Thyroiditis, Ulcerative colitis...	ORPHA:171
Tangier Disease	Nail dystrophy, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombo...	ORPHA:31150
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Acrodysostosis 1 With Or Without Hormone Resistance	Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi...	OMIM:101800
Behçet Disease	Acne, Pancreatitis, Recurrent aphthous stomatitis, Avascular necrosis, Lymphadenopathy, Myositis,...	ORPHA:117
Cowden Syndrome	Hypopigmented skin patches, Generalized hyperkeratosis, Multiple cafe-au-lait spots, Papule, Hear...	ORPHA:201
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Jaundice, Irregular epiphyses, Early ossification of ...	OMIM:208500
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Camurati-Engelmann Disease	Hepatomegaly, Anemia, Abnormal femur morphology, Abnormal tibia morphology, Abnormal diaphysis mo...	ORPHA:1328
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Deep palmar crease, Thickened skin, Bone marrow hypocellularity, Increased circulating IgM level,...	ORPHA:505248
Zollinger-Ellison Syndrome	Jaundice, Esophagitis, Erythema	ORPHA:913
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Short metatarsal, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalan...	OMIM:266920
Neuroblastoma	Anemia, Lymphadenopathy, Bone pain, Abdominal mass, Thrombocytopenia, Pathologic fracture	ORPHA:635
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Bartsocas-Papas Syndrome 1	Skin tags, Ulnar bowing, Hypoplastic iliac wing, Microtia, Oligodactyly, Low-set ears, Dry skin, ...	OMIM:263650
Thymic Neuroendocrine Tumor	Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lym...	ORPHA:97289
Vici Syndrome	Sensorineural hearing impairment, Chronic mucocutaneous candidiasis, Low-set ears, Cutaneous aner...	OMIM:242840
Vipoma	Subcutaneous lipoma, Intermittent jaundice, Erythema	ORPHA:97282
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Systemic Lupus Erythematosus	Cheilitis, Lymphadenopathy, Malar rash, Arthritis, Discoid lupus rash, Alopecia, Thrombocytopenia...	ORPHA:536
Hermansky-Pudlak Syndrome	Thickened skin, Bruising susceptibility, Hyperkeratosis, Melanocytic nevus	ORPHA:79430
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia, Leukocytosis	ORPHA:51890
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hearing impairment, Recurrent pneumonia,...	OMIM:158310
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Arthritis, Leukocytosis, Pericarditis, Erysipelas, Neutrophilia, S...	OMIM:249100
Neurotrophic Keratopathy	Allodynia, Anterior uveitis	ORPHA:137596
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Chronic gastritis, Skin ...	OMIM:301074
Aicardi-Goutières Syndrome	Panniculitis, Increased circulating interferon-gamma concentration, Arthritis, Myositis, Low-set ...	ORPHA:51
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi...	OMIM:143095
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microtia, Ectodermal dysplasia, Split hand, Hyperkeratosis, Split foot, Conductive hearing impair...	OMIM:129900
Campomelic Dysplasia	Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, P...	OMIM:114290
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Osteoporosis, Delayed skeletal maturation, ...	OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Low-set ears, Hair-pulling, Talipes equinovarus	OMIM:616393
Japanese Encephalitis	Distal upper limb muscle weakness, Increased circulating antibody level, Elbow flexion contractur...	ORPHA:79139
Codas Syndrome	Genu valgum, Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification ...	OMIM:600373
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Al Amyloidosis	Bruising susceptibility, Increased circulating antibody level	ORPHA:85443
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Increased circulating antibody level, Petechiae, Arthritis, Skin rash, Pe...	ORPHA:99826
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Hirsutism, Acute pancreatitis, Macrotia, Accelerated skeletal maturation...	OMIM:608594
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Sensorineural hearing impairment, Abnormality...	ORPHA:565612
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Arthritis, Clubbing, Inflammation of the...	OMIM:181000
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis...	OMIM:208540
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Low-set ears, Camptodactyly, Hearing impairment, Broad thumb, Short phalanx of fin...	OMIM:616894
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Hirsutism, Acute pancreatitis, Macrotia, Accelerated skeletal maturation...	OMIM:269700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Erythema, Fragile skin	OMIM:614748
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Microtia, Ectodermal dysplasia, Split hand, Ectrodactyly, Hyperkeratosis, Hearing impairment, Spl...	OMIM:604292
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level	OMIM:606002
Rhombencephalosynapsis	Polydactyly, Low-set, posteriorly rotated ears, Finger syndactyly, Short phalanx of finger, Compl...	ORPHA:59315
Proteus Syndrome	Macrodactyly, Abnormal finger morphology, Thickened skin, Upper limb asymmetry, Hip dislocation, ...	ORPHA:744
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies, Yellow papule	OMIM:264800
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Sclerodactyly	OMIM:610644
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Lethargy	ORPHA:26793
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Monosomy 22Q13.3	Clinodactyly of the 5th finger, Hair-pulling, Hearing impairment, Macrotia, Recurrent pyelonephri...	ORPHA:48652
Cysticercosis	Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo...	ORPHA:1560
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Keratoconjunctivitis sicca, Maculopap...	ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Sandal gap, Broad-based gait, Eczematoid dermatitis, Toe clinodactyly, Long fingers...	OMIM:620330
Hepatoerythropoietic Porphyria	Osteopenia, Loss of eyelashes, Scarring alopecia of scalp, Keratoconjunctivitis, Recurrent bacter...	ORPHA:95159
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Low-set ears, Cholestasis, Ascites, ...	ORPHA:731
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short metacarpal, Flared iliac w...	OMIM:271665
Leprechaunism	Acanthosis nigricans, Hyperkeratosis, Low-set ears, Thickened skin, Reduced subcutaneous adipose ...	ORPHA:508
Interstitial Cystitis	Autoimmunity, Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation	ORPHA:37202
Hyperlipoproteinemia, Type I	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Carney Triad	Ascites, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:139411
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Talipes equinovarus, Epiphyseal stippling	OMIM:118650
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers	ORPHA:199241
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of tibia, Metaphyseal enchondroma...	ORPHA:99646
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hearing impairment, Hyperkeratosis	OMIM:615510
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Periodontitis...	OMIM:619269
Lysinuric Protein Intolerance	Pancreatitis, Increased circulating antibody level, Decreased circulating antibody level, Reduced...	ORPHA:470
Focal Dermal Hypoplasia	Mixed hearing impairment, Short metacarpal, Split foot, Focal dermal aplasia/hypoplasia, Telangie...	OMIM:305600
6Q Terminal Deletion Syndrome	Hyperkeratosis, Hallux valgus, Clinodactyly, Low-set, posteriorly rotated ears	ORPHA:75857
Ectodermal Dysplasia And Immunodeficiency 2	Defective production of NFKB1-dependent cytokines, Dry skin, Anhidrotic ectodermal dysplasia	OMIM:612132
Benign Schwannoma	Abnormal fibula morphology, Allodynia	ORPHA:252164
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia	OMIM:600092
Nance-Horan Syndrome	Broad finger, Macrotia, Short phalanx of finger	OMIM:302350
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Necrotizing enterocolitis...	OMIM:619573
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatocellular necrosis	OMIM:618278
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Hair-pulling, Low-set ears, Macrotia, Arachnodactyly, Short palm,...	OMIM:620568
Pudendal Neuralgia	Allodynia	ORPHA:60039
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Choreoacanthocytosis	Bradykinesia, Hair-pulling, Falls, Arthritis, Abnormal erythrocyte enzyme concentration or activi...	ORPHA:2388
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Incre...	ORPHA:99829
Spinal Cord Injury	Allodynia	ORPHA:90058
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pericarditis, Thrombocytopeni...	ORPHA:509
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Parenteral Nutrition-Associated Cholestasis	Jaundice, Abnormality of cytokine secretion	ORPHA:567983
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Slender long bone, Low-set ears, Secretory IgA deficiency, Hearing impairment, Decreased circulat...	ORPHA:500150
Trichotillomania	Hair-pulling	OMIM:613229
African Trypanosomiasis	Myocarditis, Iritis, Jaundice, Myelitis, Lymphadenopathy, Hepatomegaly, Optic neuritis, Pericardi...	ORPHA:3385
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Clinodactyly of the 2nd finger, Scapular winging, Epidermal thickening, Thickened skin, Orthokera...	ORPHA:73223
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Protruding ear, Multiple joint contractures, Low-set ears, Hair-pulling	ORPHA:447997
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites	ORPHA:538
Arteriosclerosis, Severe Juvenile	Short phalanx of finger, Hip dysplasia	OMIM:208060
Craniosynostosis And Dental Anomalies	Chronic otitis media, Absent malleus, 2-3 toe syndactyly, Conductive hearing impairment, Short ph...	OMIM:614188
Pallister-Killian Syndrome	Hip dislocation, Sacral dimple, Rhizomelia, Postaxial hand polydactyly, Hearing impairment, Short...	OMIM:601803
Genitopatellar Syndrome	Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hearing impairment, Short phalanx of...	OMIM:606170

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
Tibia - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Bone - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Spleen - MPATH pathological process term hyperplasia	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Ear - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Femur - MPATH pathological process term inflammation	Pstpip2^em1(IMPC)Tcp	HOM	Early adult
Sternum - MPATH pathological process term 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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Combined SHIRPA and Dysmorphology

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Human diseases caused by Pstpip2 mutations

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IMPC related publications

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