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Gene: Nfkbiz MGI:1931595

Registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta

Synonyms:

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IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nfkbiz 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 Nfkbiz (0 diseases)
Human diseases predicted to be associated with Nfkbiz (1743 diseases)

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

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

Disease	Matching phenotypes	Source
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi...	ORPHA:90368
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Cari...	OMIM:612843
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia...	OMIM:308800
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Clouston Syndrome	Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blephari...	ORPHA:254478
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous...	OMIM:101900
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Sparse eyebrow, Hypoplastic...	ORPHA:2722
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Alopecia, Hypergranulosis, Honeyc...	ORPHA:79395
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, D...	ORPHA:89843
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru...	OMIM:602400
Tularemia	Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Conjunctivitis, Oti...	ORPHA:3392
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der...	OMIM:603165
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Erythema, Skin ulcer, H...	ORPHA:2584
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Candidiasis, Familial, 1	Alopecia, Cutaneous anergy, Premature loss of teeth, Chronic mucocutaneous candidiasis	OMIM:114580
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology	ORPHA:345
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	ORPHA:64745
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis, Skin plaque	ORPHA:464318
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype...	ORPHA:737
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Infantile Digital Fibromatosis	Skin nodule, Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy...	ORPHA:505
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap...	ORPHA:90280
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Palmoplantar Keratoderma, Norrbotten Recessive Type	Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,...	ORPHA:158668
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti...	OMIM:618495
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Skin erosion, Abnormality o...	ORPHA:83453
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Pal...	OMIM:615726
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Abnormal eyelid morphology, Pustul...	ORPHA:37
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp...	OMIM:602540
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule	ORPHA:2337
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling s...	ORPHA:166113
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl...	OMIM:618531
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Edema, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjun...	OMIM:603552
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Hepatitis, Skin u...	ORPHA:525
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ...	ORPHA:263534
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Erythema, Patchy palmop...	ORPHA:317
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate...	ORPHA:79151
Dowling-Degos Disease 4	Pruritus, Papule, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Abnormality of the dentition, D...	OMIM:615952
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Carious teeth, Recurrent pneumonia, Nas...	OMIM:604173
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Sea-Blue Histiocytosis	Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histio...	ORPHA:158029
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas...	OMIM:106260
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft lip, Dry skin, Cleft pala...	ORPHA:2890
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Erythema, Enterocolitis, Ulcerativ...	OMIM:614878
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Skin pla...	ORPHA:79148
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Abnormality of the dentition, Pruritu...	OMIM:618282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Abnormal immunoglobulin level, Conical tooth, Increased circulating IgE le...	ORPHA:98813
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal extracell...	OMIM:247100
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli...	ORPHA:90159
Ichthyosis With Confetti	Ectropion, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous...	OMIM:609165
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Sézary Syndrome	Hepatomegaly, Edema, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Abnormal pleura morph...	ORPHA:3162
Lamellar Ichthyosis	Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Eve...	ORPHA:313
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decr...	OMIM:616740
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Pruritus,...	ORPHA:89838
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule, Generalized hirsutism	ORPHA:2297
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Chilblain Lupus 2	Cutaneous photosensitivity, Chilblains	OMIM:614415
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule	ORPHA:409
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Polyhydramnios, Pruritus, Dermatographic urticaria, Follicular hyperkeratosis,...	OMIM:608649
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Netherton Syndrome	Sparse scalp hair, Skin rash, Sparse eyelashes, Eczema, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Corneal erosion, Palmoplantar keratoderma, Erythroderma, Abnormali...	ORPHA:79394
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Urticaria, Arthritis, Conjunctivitis	OMIM:617772
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Enanthema, Erythema, Angioedema, Hepatitis, Thyroi...	ORPHA:139402
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Pustule, Recurrent pneumonia, Increased circulating IgE level, Dehydration, Long ...	OMIM:616069
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Oral ulcer, Increased circulating IgG level, T lymphocytopenia, Lymphocytosis, Neutropenia, Decre...	ORPHA:169154
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkerat...	ORPHA:69125
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Developmental cataract, Facial erythema, Hyperkera...	OMIM:212360
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to...	ORPHA:47
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystrophy, Scaling ski...	OMIM:270300
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Subcutaneous nodule, Hyperkeratosis, Self-injurious behavior, Agitation	OMIM:618339
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo...	ORPHA:1008
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Abnormal oral cavity ...	ORPHA:889
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Abnormal epidermal morphology, Erythema, Periauricular...	ORPHA:79100
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec...	OMIM:617294
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Peeling Skin Syndrome 3	Pruritus, Erythema, Abnormal hair morphology, White scaling skin	OMIM:616265
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Plague	Glossitis, Chapped lip, Hepatomegaly, Respiratory distress, Skin rash, Edema, Erythema nodosum, L...	ORPHA:707
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Hypotrichosis 11	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,...	OMIM:615059
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan...	ORPHA:158673
Cutaneous Mastocytoma	Macule, Maculopapular exanthema, Hypermelanotic macule, Pruritus, Thickened skin, Skin nodule, Er...	ORPHA:79455
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Persistence of primary teeth, Recurrent pneumonia, Increased circulating IgE level, Er...	OMIM:147060
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,...	ORPHA:79399
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo...	ORPHA:133
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H...	ORPHA:169160
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne...	ORPHA:37042
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven...	OMIM:620296
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Thrombocytopenia, ...	OMIM:617591
Chromomycosis	Erythematous macule, Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Keratitis,...	ORPHA:182
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Pruritus, Facial edema, Angioedema,...	ORPHA:100057
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja...	ORPHA:39812
Adult Syndrome	Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax...	OMIM:103285
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Papule	ORPHA:1336
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Familial Cold Urticaria	Pruritus, Erythema, Dehydration, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Scaling skin, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decre...	OMIM:606367
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye...	OMIM:607626
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Aphthous ulcer, Uveitis, Urticaria, Arthritis, Conjunctivitis	OMIM:120100
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,...	ORPHA:495
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Sunct Syndrome	Palpebral edema, Rhinorrhea, Facial edema, Episodic hyperhidrosis, Facial erythema, Hyperhidrosis...	ORPHA:57145
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate	OMIM:600331
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc...	OMIM:616433
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Edema, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, ...	ORPHA:39041
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, P...	ORPHA:449563
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede...	ORPHA:90186
Paroxysmal Hemicrania	Palpebral edema, Rhinorrhea, Rhinitis, Conjunctival hyperemia, Epiphora, Ptosis	ORPHA:157835
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Edema, Pruritus, Arthritis, Increase...	ORPHA:448237
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Recurrent pneumonia, Hepatosplenomegaly, Narrow palpebral fissure, High palate, ...	ORPHA:397612
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci...	ORPHA:90156
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma...	ORPHA:238468
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Macroglossia...	OMIM:618523
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m...	ORPHA:79397
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Pericardial effusion, Angioedema, ...	ORPHA:36412
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym...	OMIM:608971
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphaden...	OMIM:142680
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Pruritus, Crusting erythematous d...	ORPHA:742
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Corneal opacity, Keratitis, Synophrys, Wide mouth, Oligodontia, Conjunctivitis, ...	OMIM:602562
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth...	ORPHA:231
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasiform dermatitis, Thin lowe...	ORPHA:221139
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Chilblain Lupus 1	Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Pruritus, Leuk...	ORPHA:293173
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal...	OMIM:137940
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased ci...	ORPHA:33355
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Corneal erosion, Erythema, Urticaria, Hyperkeratosis, Dry skin...	ORPHA:816
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Agel Amyloidosis	Tongue atrophy, Cataract, Facial palsy, Edema, Pruritus, Bilateral ptosis, Respiratory tract infe...	ORPHA:85448
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ...	OMIM:610163
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Widow's peak, Atopic dermatitis, Long philtrum, Sparse hair, Thick eyeb...	OMIM:606242
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Hyperhidros...	ORPHA:99868
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Abnormal palate morphology, Arthrit...	ORPHA:575
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Triangular mouth, Dry skin, Fine hair, Microcornea, Hyperk...	OMIM:601675
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop...	OMIM:224750
Lupus Erythematosus Tumidus	Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Erythematous plaque, Annular...	ORPHA:90283
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Decreased circulating C1q concentration, Bronchiectasis, Reduced ...	OMIM:620321
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Periorbital fullness, Abnormal ...	ORPHA:79078
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragi...	OMIM:242150
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe...	OMIM:613573
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Alopecia of scalp, Palmoplantar ker...	OMIM:618373
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Skin ulcer, Interstitial pneumonitis, Scaling ski...	ORPHA:454831
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Urticaria, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol...	OMIM:602032
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Ectodermal dysplasia, Palmoplantar keratoderma, Hypodo...	ORPHA:50944
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Abnormali...	ORPHA:910
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Ichthyosis Vulgaris	Absent keratohyalin granules, Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Too...	OMIM:605676
Immunodeficiency, Common Variable, 11	Aphthous ulcer, Increased circulating IgE level, Inflammation of the large intestine, Crohn's dis...	OMIM:615767
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatomegaly,...	ORPHA:158061
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,...	OMIM:257980
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Abnormality of the dentition, Prurit...	ORPHA:2314
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Pedal edema, Tubulointerstitial nephritis, Increased cir...	ORPHA:449395
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev...	OMIM:212050
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ...	OMIM:615225
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre...	OMIM:618625
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Abnormal dental morphology, Urticaria, Palmoplantar keratoderma, Everted lower lip verm...	ORPHA:2251
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Edema, Erythema, Urticaria, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Muckle-Wells Syndrome	Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Conjunctiva...	OMIM:191900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Keratoendotheliitis Fugax Hereditaria	Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Epidermal acanthosis, Angular cheilitis, Sparse eyelashes, Sparse axillary hai...	OMIM:613102
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Nicolaides-Baraitser Syndrome	Smooth philtrum, Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern,...	ORPHA:3051
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Acantholysis, Pru...	ORPHA:555905
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Monilethrix	Abnormal eyebrow morphology, Cataract, Slow-growing hair, Brittle hair, Abnormality of the dentit...	ORPHA:573
Acrogeria	Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin	ORPHA:2500
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Myositis, Skin rash, Cutis marmorata, Increased circulating IgA le...	OMIM:615934
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Recu...	OMIM:614468
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Periorbital edema, Abnormal lacrimal ...	ORPHA:141083
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Cutaneous photos...	ORPHA:330064
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ichthyo...	ORPHA:494
Lacrimal Duct Defect	Sinusitis, Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystoc...	OMIM:149700
Ascher Syndrome	Abnormal eyelid morphology, Upper eyelid edema, Abnormal upper lip morphology, High palate, Bleph...	ORPHA:1253
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Sydenham Chorea	Septic arthritis, Erythema, Movement abnormality of the tongue, Endocarditis	ORPHA:306731
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig...	OMIM:243700
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Ly...	ORPHA:50918
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,...	ORPHA:69126
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, ...	OMIM:170100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Palpebral edema, Abnormal isohemagglutinin leve...	ORPHA:99843
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Oral ulcer, Arthritis, Patchy alopecia, ...	OMIM:109650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Incontinentia Pigmenti	Ridged nail, Conical tooth, Uveitis, Coarse hair, Oligodontia, Pallor, Sparse hair, Atrophic, pat...	OMIM:308300
Eec Syndrome	Xerostomia, Orofacial cleft, Coarse hair, Microdontia, Abnormal dental enamel morphology, Sparse ...	ORPHA:1896
Harlequin Ichthyosis	Cataract, Dehydration, Hyperkeratosis, Erythroderma, Eclabion, Ectropion	ORPHA:457
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increa...	ORPHA:37748
Dermatitis Herpetiformis	Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis, Eczema	ORPHA:703
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:2028
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Leuk...	ORPHA:32960
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Dermatopathia Pigmentosa Reticularis	Reticulate pigmentation of oral mucosa, Palmoplantar hyperkeratosis, Abnormal conjunctiva morphol...	OMIM:125595
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema, Edema	OMIM:177000
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Abnormal dental enamel morphology, Pruritus, Erythema,...	ORPHA:1334
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma...	OMIM:242100
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Intersti...	OMIM:127550
Familial Keratoacanthoma	Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Adenoma sebaceum, Papule	ORPHA:493
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas...	OMIM:620192
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Dyskeratosis Congenita	Abnormality of neutrophils, Hyperhidrosis, Periodontitis, Skin vesicle, Hepatomegaly, Abnormal ey...	ORPHA:1775
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Agitation, Erythroderma, Ichthyosis	OMIM:618840
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Open bite, Skin ulce...	ORPHA:2907
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor...	OMIM:148210
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Erythrodontia, Nonimmune hydrops fetalis, Edema, Pruritus, S...	ORPHA:95159
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormal fingernail morphology, Pru...	ORPHA:79145
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir...	ORPHA:48104
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De...	OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Circulating immune complexes, Mediastinal lymphadenopathy, Splenom...	ORPHA:91138
Macs Syndrome	Irregular dentition, Epicanthus, Palpebral edema, Redundant skin, Sparse eyebrow, Bronchiectasis,...	OMIM:613075
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Abnormal hair morphology,...	ORPHA:218
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu...	ORPHA:178320
Coffin-Siris Syndrome 8	Ptosis, Sparse scalp hair, Thin upper lip vermilion, Eczema, Thick lower lip vermilion, Long eyel...	OMIM:618362
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Telecanthus, Palpebral edema, Dental crowding, Patent ductus arteriosus, Deep philtrum, Hepatospl...	ORPHA:397709
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains, Increased circulating interferon-gamma concentration	OMIM:612952
Cockayne Syndrome Type 1	Hepatomegaly, Cataract, Delayed eruption of primary teeth, Abnormality of the dentition, Uveitis,...	ORPHA:90321
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Epistaxis, Dif...	OMIM:614034
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hype...	ORPHA:38
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Der...	ORPHA:163525
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
H Syndrome	Abnormal eyebrow morphology, Psoriasiform dermatitis, Microcytic anemia, Cleft upper lip, Recurre...	ORPHA:168569
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi...	ORPHA:2968
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly...	OMIM:616100
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala...	ORPHA:443811
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ...	ORPHA:35173
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Premature loss of primary teeth, Abnormality of the denti...	ORPHA:1810
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Abnormality of the den...	ORPHA:1806
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Ly...	ORPHA:809
Angioma Serpiginosum	Erythema, Retinal vascular malformation, Vascular skin abnormality	ORPHA:95429
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ...	OMIM:308230
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Ectropion, Predominantly lower limb lymphedema, Cleft upper ...	ORPHA:33001
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli...	OMIM:613707
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Subcorneal Pustular Dermatosis	Pustule, Pruritus, Erythema, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Leukonychia Totalis	Abnormal eyelash morphology, Abnormal fingernail morphology, Blepharitis, Abnormal toenail morpho...	ORPHA:2387
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula...	ORPHA:3243
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Dyspnea, Patent ductus arteriosus, Long eyelashes, Widely spac...	ORPHA:261279
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Atopic dermatitis, Upper eyelid edema...	ORPHA:412035
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Skin ulcer, Melanocytic nevus, Nai...	ORPHA:978
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Peau d'orange, Pruritus, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abno...	ORPHA:79456
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Neutropenia, Chronic Familial	Premature loss of teeth, Periodontitis, Gingivitis, Increased circulating antibody level	OMIM:162700
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Erythematous plaque, Malar rash	ORPHA:398124
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ...	OMIM:618048
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Facial palsy...	ORPHA:1114
Hereditary Progressive Mucinous Histiocytosis	Pruritus, Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Vernal Keratoconjunctivitis	Lacrimation abnormality, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, P...	ORPHA:70476
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Vibratory Urticaria	Urticaria, Facial erythema, Flushing	OMIM:125630
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato...	OMIM:619126
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Porphyria Cutanea Tarda, Type I	Fragile skin, Eczema, Hypertrichosis	OMIM:176090
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, ...	OMIM:617337
Congenital Lethal Erythroderma	Urticaria, Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Ectodermal dysplasia, Oligodontia,...	OMIM:129900
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal ...	ORPHA:2325
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno...	OMIM:614929
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Oral mucosal blisters, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail...	OMIM:226600
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Epistaxis, Patent d...	ORPHA:293939
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneo...	OMIM:158310
Proteus Syndrome	Epidermal nevus, Epidermal acanthosis, Hyperkeratosis, Nevus, Limbal dermoid, Downslanted palpebr...	OMIM:176920
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Ectodermal dysplasia, Microdontia,...	OMIM:604292
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Epicanthus, Decreased circulating antibody level	OMIM:616911
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Epicanthus, Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Bruxism, Cafe-a...	OMIM:617804
Systemic Lupus Erythematosus 17	Alopecia, Oral ulcer, Decreased circulating complement C3 concentration, Optic neuritis, Decrease...	OMIM:301080
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Rapp-Hodgkin Syndrome	Conical tooth, Anhidrotic ectodermal dysplasia, Sparse hair, Microdontia, Bifid uvula, Cleft uppe...	OMIM:129400
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Palpebral edema, Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Thick e...	ORPHA:466688
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Recurrent skin infections, Corneal scarring, Hypohidrosis, Corneal ulceration, Decreased lacrimation	OMIM:616488
Cole Disease	Hypopigmented macule, Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis...	OMIM:615522
Rin2 Syndrome	Irregular dentition, Redundant skin, Gingival overgrowth, Upper eyelid edema, Abnormal lip morpho...	ORPHA:217335
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Apnea, Brus...	OMIM:214110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Oral ulcer, Uveitis, Skin ulcer,...	OMIM:608710
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Flushing, Arthritis...	OMIM:259100
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Lacrimation abnormality, Redundant skin, Abnormal eyelash morphology, No...	ORPHA:1252
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter...	ORPHA:70578
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Carious teeth, Thrombocytopenia...	OMIM:305000
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Fragile nails	OMIM:248300
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Xerostomia, Skin ulcer, Arthritis, Ker...	ORPHA:779
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:461
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Roifman Syndrome	Thin upper lip vermilion, Eczema, Eosinophilia, Recurrent pneumonia, Prominent eyelashes, Decreas...	ORPHA:353298
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Oral ulcer, Stomatitis, Generalized abnormality of skin	ORPHA:293812
X-Linked Intellectual Disability, Shashi Type	Blepharophimosis, Everted lower lip vermilion, Palpebral edema, Prominent supraorbital ridges	ORPHA:85286
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Lacrimation abnormalit...	ORPHA:1807
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent...	OMIM:612841
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, T...	OMIM:253260
Recon Progeroid Syndrome	Smooth philtrum, Dental crowding, Progeroid facial appearance, Hyperconvex thumb nails, Livedo re...	OMIM:620370
Lassa Fever	Facial edema, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Thrombocytopenia, Nonproductive cough, Tachypn...	ORPHA:454836
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Redundant skin, Atrophic scars, Gingival hyperkeratosis, Blepharochalasi...	OMIM:225410
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligohydramnios, Hypohidrosis, Upsl...	OMIM:613451
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Increased circulating IgE le...	OMIM:615816
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,...	ORPHA:29207
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Facial palsy, Skin-colored papule, Skin nodule, Skin ulcer, Trichoepithe...	ORPHA:79493
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch...	OMIM:616005
L-Ferritin Deficiency	Restless legs, Alopecia	OMIM:615604
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Eclabion, Ectropion	OMIM:606545
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Oral ulcer, Arthritis,...	OMIM:617321
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia...	OMIM:234050
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Tented upper lip vermilion, Palpebral edema, Macroglossia, Everted lower lip vermilio...	ORPHA:261144
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Alopecia, Palpebral edema, Pruritus, Erythema, Skin ulcer, Art...	ORPHA:93672
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Darier-White Disease	Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar p...	OMIM:124200
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Emphysem...	OMIM:612387
Incontinentia Pigmenti	Uveitis, Orofacial cleft, Abnormal toenail morphology, Infectious encephalitis, Abnormality of th...	ORPHA:464
Nizon-Isidor Syndrome	Unilateral ptosis, Thin upper lip vermilion, Sparse eyebrow, High, narrow palate, Upper eyelid ed...	OMIM:618872
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibo...	OMIM:614069
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, ...	ORPHA:83313
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Edema, Cardiomegaly, Polyhydramnios, Pericardial effusion, Pate...	ORPHA:363705
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Dysphagia, Alopecia of scalp,...	ORPHA:530
Erythema Of Acral Regions	Erythema, Abnormality of the dentition	OMIM:227000
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arra...	ORPHA:2309
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Impaired pl...	OMIM:617443
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative diso...	ORPHA:158000
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir...	OMIM:256040
Limbal Stem Cell Deficiency	Lacrimation abnormality, Opacification of the corneal epithelium, Generalized opacification of th...	ORPHA:171673
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Moebius Syndrome	Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, Brea...	ORPHA:570
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro...	OMIM:278750
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Neonatal death, Skin ...	OMIM:609638
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat...	ORPHA:727
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Leukopenia, Periorbital fullness, Conjunctivitis, Decreased circulating IgG...	ORPHA:505248
Basan Syndrome	Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Milia	OMIM:129200
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Panniculitis, ...	OMIM:608068
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278740
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H...	OMIM:604416
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Eryt...	ORPHA:728
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ptosis, Palpebral edema, Iris coloboma, Ectopia lentis	ORPHA:1259
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Complement deficiency	OMIM:216950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Recurrent skin infections, Splenomeg...	OMIM:620210
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
X-Linked Intellectual Disability, Stevenson Type	Microdontia, Tented upper lip vermilion, Palpebral edema, Thick eyebrow	ORPHA:85325
Lymphedema-Distichiasis Syndrome	Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Yello...	OMIM:153400
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Telangiectasia, Livedo, Conical incisor, Onyc...	OMIM:614564
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocclusion, Conjunctivi...	OMIM:615560
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Epidermal nevus, Erythema, Hyperkeratosis, Congeni...	OMIM:308050
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Telecanthus, Cutaneous photosensitivity, Eczema	ORPHA:3055
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Lymphopenia, Autoimmune he...	ORPHA:331206
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Erythrodontia, Nonimmune ...	ORPHA:79277
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Edema, Pruritus, Myocarditis, Xerostomia, ...	ORPHA:81
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Pachyonychia Congenita 2	Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Natal tooth, Angular cheilitis, Sparse eye...	OMIM:167210
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hypothyroidism, Deep philtrum, Recurrent pneumonia, Asthma, Hepatosplenomegaly...	OMIM:619750
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Increased circulating IgE level, Generalized abnormality of skin, Atopic dermat...	ORPHA:2902
Phelan-Mcdermid Syndrome	Sacral dimple, Epicanthus, Palpebral edema, Aggressive behavior, Hypoplastic toenails, Toenail dy...	OMIM:606232
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Noonan Syndrome 8	Curly hair, Epicanthus, Eczema, Polyhydramnios, Hyperkeratosis, Webbed neck, Palmoplantar cutis l...	OMIM:615355
Blepharochalasis And Double Lip	Blepharochalasis, Duplication of the upper lip	OMIM:109900
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,...	OMIM:618116
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Lacrimation abnormality, Sparse eyebrow, Hypohidrosis, Ciliary ...	ORPHA:1882
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Fountain Syndrome	Epicanthus, Cutis marmorata, Facial edema, Synophrys, Erythema, Thick lower lip vermilion, Gingiv...	ORPHA:3219
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Wide mouth, Palpebral edema, Esophagitis	ORPHA:79350
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Thickened skin, Skin rash, Thin skin	ORPHA:1658
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Microcornea,...	ORPHA:33364
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Abnormal retinal vascular morphology, Palpebral edema	ORPHA:269
Kawasaki Disease	Pericarditis, Skin rash, Edema, Myocarditis, Cervical lymphadenopathy, Leukocytosis, Jaundice, He...	ORPHA:2331
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti...	ORPHA:85436
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Cutan...	OMIM:278730
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Rotor Syndrome	Pruritus, Conjunctival icterus, Jaundice, Intermittent jaundice	ORPHA:3111
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, Cholestasis, Lymphadenopathy, In...	OMIM:615895
Adult-Onset Still Disease	Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Arthritis, Joint swelling, B...	ORPHA:829
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Corneal dystrophy, Palpebral edema, Corneal erosion, Opacification of the cornea...	OMIM:608470
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Edema, Orchitis, Pustule, Angioedema, Erythema, Vascular skin abnormalit...	ORPHA:761
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Abnormality of the dentition	ORPHA:3363
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous ...	ORPHA:343
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti	ORPHA:1573
20Q11.2 Microduplication Syndrome	Epicanthus, Tented upper lip vermilion, Palpebral edema, Periorbital edema, Tented philtrum, Ging...	ORPHA:363659
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Trichinellosis	Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Central retin...	ORPHA:863
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis...	OMIM:104570
Peho Syndrome	Recurrent respiratory infections, Epicanthus, Palpebral edema, Gingival overgrowth, Pedal edema, ...	ORPHA:2836
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma, Geogr...	ORPHA:247353
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Decreased circulat...	OMIM:615577
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Complex Regional Pain Syndrome	Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ...	ORPHA:83452
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Thin skin...	ORPHA:1660
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni...	OMIM:265300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce...	ORPHA:3261
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Sparse pubic ha...	OMIM:181270
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, Increased circulating IgE level, ...	ORPHA:1163
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Peripheral pulmonary artery ste...	ORPHA:280633
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Mpdu1-Cdg	Scaling skin, Erythematous plaque, Eczema, Ichthyosis	ORPHA:79323
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp...	OMIM:614470
Crouzon Syndrome	Respiratory insufficiency, Narrow palate, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea...	OMIM:618969
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Xerostomia, Lacrimal duct a...	OMIM:620193
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Synophrys, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Sparse hair, Dystrophic fingernails...	ORPHA:3253
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Oral mucosal blisters, Erythema, Decreased ...	ORPHA:79396
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis, Gingivitis	OMIM:610455
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Everted lower lip vermilion, Ectropion	OMIM:242510
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Pneumonia, Protruding tongue, Bronchiectasis, Increased circulating IgM le...	OMIM:242860
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Asplenia, Iridocyclit...	OMIM:240300
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Cockayne Syndrome Type 2	Hepatomegaly, Delayed eruption of primary teeth, Uveitis, Developmental cataract, Widely spaced p...	ORPHA:90322
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbil...	ORPHA:99827
Transketolase Deficiency	Hepatomegaly, Cataract, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis	ORPHA:488618
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Abnormal eyelid morphology, Lymphedema, Subcutaneous nodule, Scaling skin, Abnormal toenai...	ORPHA:2526
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278720
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholy...	ORPHA:69745
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Bruising susceptibility...	OMIM:313900
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Hepatomegaly, Abnormal dental morphology, Agenesis ...	ORPHA:191
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Stuve-Wiedemann Syndrome 1	Pursed lips, Apnea, Carious teeth, Pulmonary arterial medial hypertrophy, Oligohydramnios, Respir...	OMIM:601559
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Decreased lacrimation	ORPHA:240071
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Epicanthus, Palpebral edema, Recurrent bronchitis, Cardiomegaly, Sparse eyebrow, Sp...	OMIM:252500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hepatomegaly, Splenomegaly, Hypohidrosis, Heterochromia...	ORPHA:163746
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Palpebral edema, Polyhydramnios, Long philtrum	ORPHA:50810
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis, Cutaneous photosensitivity, Fragile skin	OMIM:176100
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula...	ORPHA:449432
Gapo Syndrome	Skin tags, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding, Hypopigmen...	ORPHA:2067
Squamous Cell Carcinoma Of The Esophagus	Cough, Lymphadenopathy	ORPHA:99977
Roifman Syndrome	Hepatomegaly, Thin upper lip vermilion, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, ...	OMIM:616651
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, High palate, Prominent supraorbital ridges, Conjunctival hyperemia	OMIM:619548
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hy...	OMIM:226650
Cinca Syndrome	Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:607115
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, A...	OMIM:615688
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Alopecia, Ichthyosis, Dry skin, Sparse body hair	ORPHA:177
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Urban-Rogers-Meyer Syndrome	Upslanted palpebral fissure, Epicanthus, Increased circulating IgE level, Abnormality of the phil...	ORPHA:3409
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Resp...	ORPHA:567546
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Dorsocervical fat pad, Bruising susceptibility, Fragile skin, Hirsutism	OMIM:615830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Complement Component 5 Deficiency	Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General...	OMIM:609536
Lymphatic Malformation 3	Recurrent skin infections, Lymphedema	OMIM:613480
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve...	ORPHA:449400
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Pall...	ORPHA:3260
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Skin erosion, Localized skin lesion, Gastrointestinal i...	ORPHA:79410
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Ab...	ORPHA:1657
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Microcornea, Wide mouth, Euryble...	ORPHA:2995
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Generalized hypoplasia of dental enamel, Telecanthus, Carious teeth	OMIM:203550
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Hypomelanosis Of Ito	Alopecia, Epicanthus, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, Iris coloboma	OMIM:300337
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Portal hypertension, Hepatosplenomegaly, Hypohidrosis, Heterochro...	OMIM:609136
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Atrichia, Periungual erythema, Scaling skin, Neonatal death, Dystrophic fin...	OMIM:308205
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Buerger Disease	Skin ulcer	ORPHA:36258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Splenomega...	ORPHA:47612
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp...	OMIM:300291
Takayasu Arteritis	Increased inflammatory response, Anorexia, Subcutaneous nodule, Skin ulcer, Arthritis, Inflammato...	ORPHA:3287
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278700
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Pallor, Neutropen...	OMIM:246400
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Eczema, Sparse eyebrow, Cutis laxa, Long philtrum, Sparse hair, Woolly ...	OMIM:619691
Atelis Syndrome 1	Cataract, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Carious teeth, Thro...	OMIM:620184
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Fine hair, Furrowed tongue, Hyperkera...	ORPHA:1839
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy...	OMIM:141300
Flynn-Aird Syndrome	Alopecia, Dermal atrophy, Skin ulcer	ORPHA:2047
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer, Dysphagia	ORPHA:220402
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri...	ORPHA:2686
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hyperkerato...	ORPHA:79452
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cou...	ORPHA:95455
Malignant Atrophic Papulosis	Constrictive pericarditis, Abnormal conjunctiva morphology, Pleural effusion	OMIM:602248
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Nasolacrimal duct obstruction, Ep...	OMIM:224230
Nodular Non-Suppurative Panniculitis	Erythema, Panniculitis, Inflammatory abnormality of the eye, Edema	ORPHA:33577
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Coarse hair, Sparse hair, Trich...	OMIM:301845
Keratolytic Winter Erythema	Erythema	OMIM:148370
Blepharochalasis, Superior	Blepharochalasis	OMIM:110000
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Hypogeusia,...	ORPHA:2930
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circu...	OMIM:619774
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia	ORPHA:158014
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Erythroderma,...	OMIM:302960
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Phenylketonuria	Hyperactivity, Fair hair, Eczema, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:261600
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy, Ectro...	OMIM:278800
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Erythermalgia, Primary	Pruritus, Keratoconjunctivitis sicca, Xerostomia	OMIM:133020
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Dehydrati...	ORPHA:2552
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Ectropion, Hypertrichosis, Chronic hepatiti...	ORPHA:101330
Autoimmune Hypoparathyroidism	Cataract, Autoimmune hypoparathyroidism, Dyspnea, Chronic mucocutaneous candidiasis, Conjunctivitis	ORPHA:36913
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Atrichia, Nail ...	ORPHA:1867
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega...	ORPHA:3226
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hype...	ORPHA:391
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Abnormality of the periorbit...	ORPHA:96123
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Lig4 Syndrome	Epicanthus, Telecanthus, Telangiectasia of the skin, Erythema, Low anterior hairline, Upslanted p...	ORPHA:99812
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe...	ORPHA:85414
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Erythema, Dental malocc...	ORPHA:90289
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Anonychia	OMIM:616029
Kury-Isidor Syndrome	Alopecia, Tented upper lip vermilion, Hypertrichosis, Astigmatism, High palate, Widely spaced tee...	OMIM:619762
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Nephr...	OMIM:617303
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Entropion, Abnormal pleura morphology, Co...	ORPHA:537
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Recurrent respiratory infections, Facial hypotonia, Lagophthalmos, Nodular regenera...	ORPHA:404454
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield ...	OMIM:614866
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Renpenning Syndrome	Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Macrodontia, High, narrow palate, ...	ORPHA:3242
Deeah Syndrome	Decreased hemoglobin concentration, Epicanthus, Hepatomegaly, Neonatal respiratory distress, Decr...	OMIM:619004
Monosomy 18P	Alopecia, Epicanthus, Lymphedema, Carious teeth, Cleft palate, Low posterior hairline, Downturned...	ORPHA:1598
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Retinal arteriolar constriction, Skin rash	OMIM:124950
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Cockayne Syndrome A	Hepatomegaly, Anhidrosis, Cataract, Delayed eruption of primary teeth, Carious teeth, Splenomegal...	OMIM:216400
Arboleda-Tham Syndrome	Respiratory distress, Downturned corners of mouth, Conjunctivitis, Short philtrum, Chronic otitis...	OMIM:616268
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Familial Multiple Nevi Flammei	Hypermelanotic macule, Edema, Skin ulcer, Nevus flammeus, Papule	ORPHA:624
Polyarteritis Nodosa	Pericarditis, Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Facial erythema	OMIM:618307
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Stevens-Johnson Syndrome	Recurrent respiratory infections, Entropion, Abnormality of neutrophils, Abnormal pleura morpholo...	ORPHA:36426
Cockayne Syndrome B	Hepatomegaly, Anhidrosis, Delayed eruption of primary teeth, Carious teeth, Splenomegaly, Dental ...	OMIM:133540
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis, Lacrimation abnormality	ORPHA:1562
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Dental crowding,...	OMIM:619005
Werner Syndrome	Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of skin elasticity, ...	ORPHA:902
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Chime Syndrome	Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumer...	ORPHA:3474
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, Tented upper lip vermilion,...	ORPHA:894
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Pruritus, Facial edema, Crusting erythemato...	ORPHA:324625
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Epicanthus, Brittle hair, Upslanted palpebral fissure, High palate	ORPHA:50812
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Splenomegaly, Cutis laxa, Decreased circulating antibody level, High pa...	OMIM:605309
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Thin upper lip vermilion, Skin rash, Low posterior hairline, Astigmatism, Long eyelashes, High pa...	OMIM:617523
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Intellectual Developmental Disorder, Autosomal Recessive 5	Smooth philtrum, Telecanthus, Eczema, Synophrys, Short philtrum, Sparse hair, Blepharophimosis, T...	OMIM:611091
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts	OMIM:617425
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Cutaneous sclerotic p...	ORPHA:90291
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ...	OMIM:613490
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Hypohidrosis, Anisocoria, Downturned corners of mouth, Adrenal ins...	OMIM:615510
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Plasminogen Deficiency, Type I	Gingival overgrowth, Gingivitis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis...	OMIM:300310
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Increased circulating IgG level, L...	ORPHA:1304
Immunodeficiency 22	Pericarditis, Retinal vasculitis, Decreased circulating total IgM, Ascites, Panniculitis, Decreas...	OMIM:615758
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema	OMIM:615907
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Chondroectodermal Dysplasia With Night Blindness	Epiphora, Abnormal dental morphology, Otitis media, Hyperhidrosis	ORPHA:319195
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Monosomy 22Q13.3	Hyperactivity, Sacral dimple, Recurrent skin infections, Epicanthus, Palpebral edema, Lymphedema,...	ORPHA:48652
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Lacrimation abnormality, Cleft palate, Hypohidrosis	ORPHA:1484
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Abnormal oral cavi...	ORPHA:42642
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Downslanted palpebral fissures	OMIM:615637
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Wide mouth, Macroglossia, Keratoconjunctivitis sicca, Recurrent...	OMIM:616260
Leprosy	Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skin nodule, Loss of eyelashes...	ORPHA:548
Neurotrophic Keratopathy	Anterior uveitis, Lacrimation abnormality, Corneal scarring, Corneal stromal edema, Astigmatism, ...	ORPHA:137596
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Erythrodontia, Jaundice, Loss of eyelashes, Corneal scarring, Conjuncti...	OMIM:263700
Mevalonic Aciduria	Normocytic hypoplastic anemia, Cataract, Skin rash, Edema, Fluctuating splenomegaly, Fluctuating ...	OMIM:610377
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Ed...	OMIM:619644
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxi...	ORPHA:420741
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Mastocytosis, Pneumonia, Pruritus, Erythema, Thick lower lip vermilio...	ORPHA:2135
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Hyperhidrosis, Lymphadenopathy	ORPHA:86893
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe...	OMIM:186580
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen...	ORPHA:797
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Smooth philtrum, Thin upper lip vermilion, Telecanthus, Polyhydramnios, Downturned corners of mou...	OMIM:618548
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Edema, Retrobulbar optic neuritis, Splenomegaly, Leukoc...	ORPHA:1451
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis, Skin ulcer	ORPHA:834
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Cleft...	ORPHA:1234
Cornelia De Lange Syndrome	Synophrys, Low anterior hairline, Microcornea, Downturned corners of mouth, Widely spaced teeth, ...	ORPHA:199
Blau Syndrome	Xerostomia, Abnormality of the liver, Posterior uveitis, Abnormal salivary gland morphology, Faci...	ORPHA:90340
Pediatric Systemic Lupus Erythematosus	Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Oral ulcer, Arthr...	ORPHA:93552
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Abnormality of the dentition, Bilateral ptosis, Decreased circulating total IgM...	OMIM:620040
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Epicanthus, Thin upper lip vermilion, Eczema, Carious teeth, Long eyelashes...	OMIM:620191
Restrictive Dermopathy	Telecanthus, Entropion, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Apl...	ORPHA:1662
Farber Disease	Respiratory distress, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Nodular p...	ORPHA:333
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri...	OMIM:103420
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:200400
Trisomy 8P	Recurrent upper respiratory tract infections, Abnormal lung lobation, Cleft palate, Upslanted pal...	ORPHA:264450
Oculocerebrocutaneous Syndrome	Alopecia, Eyelid coloboma, Orbital cyst, Cleft palate	OMIM:164180
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Panniculitis, Erythema, Edema	OMIM:619183
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Lymphedema, Sparse hair, Dystrophic fingernails, Abnormal eyelash m...	ORPHA:1340
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Abnormality of the dentition, ...	ORPHA:2036
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin v...	ORPHA:257
Crouzon Syndrome	Dental crowding, Keratitis, High palate, Conjunctivitis, Shallow orbits	OMIM:123500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
American Trypanosomiasis	Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Dyspnea, Lymphadeno...	ORPHA:3386
Herpes Simplex Virus Stromal Keratitis	Keratitis, Herpetiform corneal ulceration, Corneal stromal edema, Corneal perforation, Descemet M...	ORPHA:137599
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Lacrimation abnormality, Edema, Abnormality o...	ORPHA:2315
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Wiskott-Aldrich Syndrome	Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni...	OMIM:301000
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Restrictive Dermopathy 1	Entropion, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelash...	OMIM:275210
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis, Acne, Seborrheic dermatitis	OMIM:167100
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Hyperhidrosis, ...	ORPHA:83317
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Conical tooth, Abnormality of the dentition, Fine hair, Upslanted palpebra...	ORPHA:228390
Adams-Oliver Syndrome 2	Alopecia, Cutis marmorata, Low anterior hairline, Developmental cataract, Narrow palpebral fissur...	OMIM:614219
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Plantar hyperkeratosis, Alopecia totalis, Abnormal dental enamel morph...	ORPHA:221016
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B...	OMIM:242700
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Familial Tumoral Calcinosis	Skin rash, Abnormality of the dentition, Abnormality of the gingiva, Erythema, Gingivitis, Abnorm...	ORPHA:53715
Bloom Syndrome	Bronchiectasis, Malar rash, Hypertrichosis, Facial erythema, Decreased circulating total IgM, Cut...	OMIM:210900
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis...	ORPHA:2137
Hermansky-Pudlak Syndrome 2	Periodontitis, Neutropenia, Hepatomegaly, Hepatosplenomegaly, Enlarged platelet dense granules, P...	OMIM:608233
Warburg-Cinotti Syndrome	Epicanthus, Dental crowding, Symblepharon, Poor wound healing, Erythema, Gingival overgrowth, Nar...	OMIM:618175
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Aicardi-Goutieres Syndrome 1	Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczema, Tongue fasciculations, Narrow mouth	OMIM:620007
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous plaque, Panniculitis, Skin ulcer, Erythematous papule	ORPHA:86884
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Epicanthus, Accessory oral frenulum, Hypoplasia of teeth, Iris coloboma	ORPHA:88630
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu...	ORPHA:568051
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Abnormality o...	ORPHA:542643
Rhizomelic Chondrodysplasia Punctata, Type 1	Upslanted palpebral fissure, Alopecia, Cleft palate, Developmental cataract	OMIM:215100
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth...	OMIM:269920
Branchioskeletogenital Syndrome	Telecanthus, Unilateral cleft palate, Highly arched eyebrow, Abnormality of the dentition, Cariou...	ORPHA:1299
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Epicanthus, Eczema, Highly arched eyebrow, Repetitive compulsive behavior, Bilater...	ORPHA:352490
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Erythema, Macular edema, Posterior synechiae of the anterior chambe...	ORPHA:79098
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Erythema, Corneal scarring, Hyperhidrosis, Stridor, High pa...	OMIM:614653
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob...	ORPHA:90039
Dermatomyositis	Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Edema, Abnormal eyelid morpholo...	ORPHA:221
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor	ORPHA:3099
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, X...	ORPHA:36397
Insulin Autoimmune Syndrome	Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Epicanthus, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus art...	OMIM:614576
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Oral ulcer, Synovitis, Arthritis, Decreased circulating complement...	ORPHA:567544
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Hyperactivity, Sparse scalp hair, Epicanthus, Eczema, Polyhydramnios, Webbed neck, Hy...	OMIM:607721
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Oral ulcer, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Acantholysis, Absent eyelashes, Oligohydramnios, Cleft palate, Absen...	ORPHA:158687
Angioedema, Hereditary, 1	Pharyngeal edema, Intestinal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema, Red...	OMIM:106100
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Periorbital fullness, Coliti...	ORPHA:73263
Alpha-Mannosidosis	Hepatomegaly, Recurrent respiratory infections, Cataract, Corneal opacity, Open bite, Splenomegal...	ORPHA:61
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Webbed neck	OMIM:615279
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Restrictive ...	OMIM:619475
Rothmund-Thomson Syndrome	Selective tooth agenesis, Facial edema, Sparse hair, Microdontia, Juvenile cataract, Abnormality ...	ORPHA:2909
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Ptosis	OMIM:610539
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Everted lower lip vermilion, Na...	ORPHA:75389
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Long uvula, Redundant skin, Pericardial effusion, Bilateral ptosis, Tooth malposition, ...	ORPHA:536532
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Impaired T cell function, Paronychia, Hypogeusia, Alopecia of scalp, Perioral ...	OMIM:201100
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Cataract, Pulmonary embolism, Orch...	ORPHA:117
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Corneal opacity, Abnormal pleur...	ORPHA:1764
Fibrodysplasia Ossificans Progressiva	Alopecia, Subcutaneous nodule	ORPHA:337
Mogs-Cdg	Alopecia, Fair hair, Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Hirsutism, Decrea...	ORPHA:79330
Epithelial Recurrent Erosion Dystrophy	Corneal erosion, Epiphora	OMIM:122400
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen...	OMIM:616050
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Edema, Facial erythema, Thin skin, Ecchymosis, Bruising sus...	OMIM:219090
Snakebite Envenomation	Edema, Angioedema, Erythema, Gingival bleeding, Ecchymosis	ORPHA:449285
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Infantile Myofibromatosis	Abnormal hair morphology, Subcutaneous nodule, Skin ulcer	ORPHA:2591
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy, Epiphora	OMIM:122100
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto...	OMIM:607616
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis	OMIM:105200
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Periorbital fullness, Conjunctivitis, Micro...	OMIM:149730
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Sparse hair, Microdontia, Absent ey...	OMIM:305100
Microlissencephaly	Pneumonia	ORPHA:1083
48,Xyyy Syndrome	Epicanthus, Acne, Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum...	ORPHA:99329
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar...	ORPHA:79126
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Lower eyelid colo...	OMIM:616367
Distal 22Q11.2 Microduplication Syndrome	Sacral dimple, Epicanthus, Palpebral edema, Hypoplastic toenails, Low posterior hairline, Upslant...	ORPHA:261337
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo...	ORPHA:275
Lead Poisoning	Delayed eruption of teeth, Skin rash, Increased circulating IgE level, Abnormality of humoral imm...	ORPHA:330015
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Corneal opacity...	OMIM:615273
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Corneal dystrophy, Abnormal dental enamel morphology, Carious tee...	ORPHA:3194
Infant Botulism	Ptosis, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Keratoconjunctivit...	ORPHA:178478
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Atypical or p...	ORPHA:83471
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Episodic hyperhidrosis, Hypogeusia, Decreased sensitivity...	OMIM:223900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Nevus, Seborrheic dermatitis	ORPHA:276280
Acromegaly	Acne, Palpebral edema, Elevated circulating growth hormone concentration, Abnormality of the dent...	ORPHA:963
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema, Abnormality of the dentition	ORPHA:2101
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Pellagra-Like Syndrome	Cataract, Skin rash	OMIM:260650
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Costello Syndrome	Deep-set nails, Epicanthus, Abnormal fingernail morphology, Redundant skin, Polyhydramnios, Conca...	ORPHA:3071
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen...	OMIM:612714
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis...	ORPHA:98850
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Verrucous papule, Palmoplan...	ORPHA:79501
Branchiootorenal Syndrome 1	Lacrimation abnormality, Lacrimal duct stenosis, Facial palsy, Cleft palate, Lacrimal duct aplasi...	OMIM:113650
Corneal Dystrophy, Meesmann, 2	Epiphora, Recurrent corneal erosions	OMIM:618767
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liv...	OMIM:214900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Oral ulcer, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Cleft palate, Short philtrum, Facial hirsutism, ...	ORPHA:247768
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Microdontia, Pili torti, Frag...	OMIM:261990
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Plantar hyperkeratosis, Alopecia totalis, Abnormal dental enamel morph...	ORPHA:221008
Acrocraniofacial Dysostosis	Telecanthus, Lacrimation abnormality, Cleft palate, Short philtrum, Advanced eruption of teeth, D...	ORPHA:949
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Carious teeth, Cleft palate, Everted lower lip vermil...	ORPHA:2316
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Decreased response to growth hormone stimulation test, Central hypoventilation, ...	ORPHA:293987
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Giant Cell Arteritis	Alopecia, Pericarditis, Anorexia, Skin ulcer, Arthritis, Ptosis	ORPHA:397
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Pat...	ORPHA:290
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis, Opacificat...	ORPHA:3453
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Smooth philtrum, Laterally extended eyebrow, Synophrys, Tented philtrum, Low anterior hairline, K...	OMIM:618479
Hennekam Syndrome	Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Abnormal dental mor...	ORPHA:2136
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess...	ORPHA:31202
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Acne	ORPHA:3000
Adenocarcinoma Of The Esophagus	Cough, Lymphadenopathy	ORPHA:99976
Glutamine Deficiency, Congenital	Neonatal death, Thin vermilion border, Erythema	OMIM:610015
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erythema, Pedal edema, Arthritis,...	ORPHA:342
Chanarin-Dorfman Syndrome	Alopecia, Subcapsular cataract, Everted lower lip vermilion, Ectropion	OMIM:275630
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Oral ulcer, T lymphocytopenia, Colitis, Pustul...	OMIM:619381
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Facial erythema, Increased circulating IgG level, ...	ORPHA:284227
Short Syndrome	Telecanthus, Alopecia, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den...	ORPHA:3163
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Abnormal pupil morphology, Deep philtrum, Gingivitis, Dehyd...	ORPHA:534
22Q11.2 Deletion Syndrome	Impaired T cell function, Polyhydramnios, Abnormal eyelid morphology, Abnormal lung lobation, Hyp...	ORPHA:567
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Eczema, Seborrheic dermatitis,...	ORPHA:369950
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Cataract, Skin rash, Cerebral edema	OMIM:618321
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Epidermal acanthosis, Pustule, Hyperkeratosis, Joint swelling, Stomatitis	OMIM:612852
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Hypoplasia of the lacrimal ...	OMIM:618419
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Conj...	ORPHA:53035
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Infantile Systemic Hyalinosis	Thickened skin, Subcutaneous nodule, Skin ulcer, Lymphedema	ORPHA:2176
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Perica...	ORPHA:77259
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Trichiasis, Atypical scarring of skin, Hyperkeratosis, Narrow palpebra...	OMIM:601701
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Ptosis, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduce...	OMIM:613385
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Anorexia, Thickened skin, Urinary bladder inflammation, Erythema, Xerostomia...	ORPHA:99921
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte...	OMIM:245660
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Epiphora, Bone marrow hypocellularity, Pulmonary fibro...	OMIM:613990
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule, Sparse scalp hair	ORPHA:2611
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality, Rhinorrhea	OMIM:167400
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Rhinitis	ORPHA:93476
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Numerous nevi, Curly hair, Slow-growing hair, Epicanthus, Polyhydramnios, Absent ...	OMIM:115150
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Absent eyelashes, ...	ORPHA:544488
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Increased circulating IgE level, Recurrent pneumonia, Gingival overgrowth, Decrea...	ORPHA:508533
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, High palate, Lacrimation abnormality, Cleft palate	ORPHA:1135
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed...	ORPHA:2483
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopathy, Leukocy...	OMIM:620233
Somatomammotropinoma	Palpebral edema, Elevated circulating growth hormone concentration, Abnormality of the dentition,...	ORPHA:314769
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Abnormality of taste sensation, Sinusitis, Pneumonia...	ORPHA:68
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Prematurely aged appearance, Progeroid facial ap...	ORPHA:90153
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Increased circulating IgA level, Carious teeth, Abdominal adhesions, Devel...	OMIM:616395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Cataract, Esophagitis, Hepatic steatosis, Alacrima	OMIM:615356
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Respiratory distress, Abnormality of the gingiva, Recurrent pneumonia,...	ORPHA:798
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis, Neonatal death	OMIM:620014
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Blepharophimosis, Downturned corners of mouth, Frontal upsweep of hair...	ORPHA:391372
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Myocarditis, Skin ulcer, Retinal arterial occlusion, Arthritis, Coombs-positi...	ORPHA:464343
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, P...	ORPHA:163596
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia ...	ORPHA:169090
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Abnormal lung morp...	ORPHA:549
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Xerostomia, Skin ulcer, Dysphagia	ORPHA:220393
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Astigmatism, Erythema	OMIM:278760
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Acral ulceration, Nail dysplasia, Nai...	OMIM:256800
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Lacrimation abnormality, Synophrys, Orofacial cleft, Ab...	ORPHA:3440
Central Precocious Puberty In Male	Acne, Abnormality of secondary sexual hair	ORPHA:649929
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating i...	ORPHA:85410
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Noonan Syndrome 10	Curly hair, Epicanthus, Sparse eyebrow, Increased nuchal translucency, Underdeveloped supraorbita...	OMIM:616564
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Thin upper lip vermilion...	ORPHA:79332
Pilarowski-Bjornsson Syndrome	Almond-shaped palpebral fissure, Periorbital fullness, Long eyelashes, Downslanted palpebral fiss...	OMIM:617682
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Ectopia lentis, High, narrow pa...	OMIM:616914
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrho...	OMIM:301072
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Thoracic hypertric...	OMIM:619503
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Abnorma...	ORPHA:33226
Hatipoglu Immunodeficiency Syndrome	Eczema, Poor wound healing, Atopic dermatitis, Dry skin, Premature graying of hair, Recurrent oti...	OMIM:620331
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Digeorge Syndrome	Impaired T cell function, Sclerocornea, High, narrow palate, Abnormal thymus morphology, Hypoplas...	OMIM:188400
Interstitial Lung Disease 2	Dyspnea, Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody...	OMIM:178500
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl...	ORPHA:77297
Gomez-Lopez-Hernandez Syndrome	Alopecia, Thin vermilion border, High palate, Opacification of the corneal stroma, Downslanted pa...	OMIM:601853
Malt Lymphoma	Recurrent respiratory infections, Abnormal nasolacrimal system morphology, Mediastinal lymphadeno...	ORPHA:52417
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Asthma, Hepatic necrosis, Bronchospasm, Epiphora, Rhinorrhea	ORPHA:100093
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Joint swell...	OMIM:228000
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Edema of the dorsum of feet, Seborrheic dermatitis, Panc...	OMIM:274000
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Hyperkera...	OMIM:301220
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Epicanthus, Lacrimation abnormality, Abnormal dental enamel morphology, Macrodontia, Cleft palate...	ORPHA:2916
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Conj...	ORPHA:480520
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Upslanted palpebral fissure, Hyperkeratosis, Sparse ...	ORPHA:1005
Van Den Bosch Syndrome	Anhidrotic ectodermal dysplasia, Recurrent skin infections	ORPHA:3417
Rothmund-Thomson Syndrome, Type 2	Microcornea, Premature graying of hair, High palate, Sparse hair, Microdontia, Absent eyebrow, Al...	OMIM:268400
Focal Dermal Hypoplasia	Alopecia, Corneal opacity, Telangiectasia of the skin, Abnormal dental morphology, Ectopia lentis...	ORPHA:2092
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Anisocoria, Adrenocorticotropin receptor defect, Adrenal in...	OMIM:231550
Kilquist Syndrome	Wide mouth, Xerostomia, Alacrima, Hypoplasia of teeth	OMIM:619080
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Cataract, Decreased response to growth hormone stimulation test, Dyspn...	ORPHA:94089
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Epicanthus, Dental crowding, Splenomegaly, Broad philtru...	OMIM:616354
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Familial Benign Copper Deficiency	Early balding, Deep philtrum, Acne	ORPHA:1551
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Deep philtrum, Alacrima	ORPHA:289483
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Abnormal pigmentation of th...	ORPHA:536
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:281090
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Granulomatosis With Polyangiitis	Sinusitis, Periorbital edema, Granulomatosis, Otitis media, Cough, Abnormal oral cavity morpholog...	ORPHA:900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Dehydration, Neutropenia, Pan...	ORPHA:79312
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Thrombo...	ORPHA:99826
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Abnor...	ORPHA:79474
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Dry skin, Alacrima	OMIM:617671
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Non-midline cleft lip, Upper eyelid co...	ORPHA:1791
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Eczema	OMIM:619751
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Edema, Reduced natural killer cell activity, Splenomegaly,...	OMIM:603553
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Carious teeth, Hypodontia	OMIM:612079
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Eczema, Lack of skin elasticity	ORPHA:79254
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hypertension, Sparse ey...	ORPHA:59303
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Myocarditis, Mediastinal lymphadenopathy, Splenomegaly, Hyp...	ORPHA:3452
Radio-Tartaglia Syndrome	Synophrys, Low anterior hairline, Periorbital fullness, Abnormal repetitive mannerisms, Highly ar...	OMIM:619312
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow...	ORPHA:2108
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta...	ORPHA:542323
Alazami Syndrome	Short palpebral fissure, Abnormal eating behavior, Sparse eyebrow, Thickened skin, Abnormality of...	ORPHA:319671
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Upslanted palpebral fissure, S...	OMIM:600430
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hajdu-Cheney Syndrome	Telecanthus, Abnormal fingernail morphology, Thickened skin, Synophrys, Low anterior hairline, Sk...	ORPHA:955
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Thin skin, Short eyelashes, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis, Progeroid facial appearance	ORPHA:412057
W Syndrome	Telecanthus, Acne, Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormalit...	ORPHA:2804
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo...	OMIM:214500
Orofaciodigital Syndrome Type 1	Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Chronic otitis media, Alop...	ORPHA:2750
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Epicanthus, Supernumerary nipple, Abnormality of the dentition	ORPHA:3224
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Telangiectasia of the skin, Keratoconjunctivitis sicca, Thin vermilion border, Long phi...	OMIM:616007
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Cataract, Lack of facial subcutaneous fat, Allergic rhinitis, Impaired T cel...	OMIM:176690
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Increa...	ORPHA:2363
Gapo Syndrome	Keratoconus, Prominent scalp veins, Epicanthus, Alopecia, Sparse eyelashes, Redundant skin, Spars...	OMIM:230740
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Almond-shaped palpebral fissure, Abnormal repetitive mannerisms, Downslanted palpebral fissures, ...	ORPHA:529965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Thyroiditis, Bronchiect...	ORPHA:293978
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions, Alacrima	OMIM:601549
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Premature loss...	OMIM:616353
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Cushing Disease	Sparse scalp hair, Acne, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, Pedal edem...	ORPHA:96253
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Thrombocytopenia, Pa...	OMIM:606003
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Acne, Gingival overgrowth, Wide mouth, Short philtrum, Thick vermilion...	ORPHA:137834
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Inflammation of the l...	ORPHA:26790
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormality of dental color, Abnormal eyelash morphology, Decre...	ORPHA:1006
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, Absent eyebrow, Alopecia, Cleft upper lip,...	OMIM:263650
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Sp...	ORPHA:824
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ...	OMIM:300636
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Pruritus, Splenomegaly, Jaundice, Lymphadenop...	ORPHA:3385
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima, Abnormality of the dentition	OMIM:240000
Oculoauriculofrontonasal Syndrome	Cleft lip, Upper eyelid coloboma, Cleft palate, Narrow mouth, Limbal dermoid, Broad philtrum	ORPHA:398156
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima, Cough	OMIM:608088
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Oculocerebrocutaneous Syndrome	Alopecia, Corneal opacity, Abnormal fingernail morphology, Orofacial cleft, Wide mouth, Eyelid co...	ORPHA:1647
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Pruritus, Arthritis, Inflammation...	ORPHA:324964
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia, Decr...	OMIM:212750
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent b...	OMIM:208900
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Rift Valley Fever	Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Macular edema, Retinal vasculitis, Inc...	ORPHA:319251
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Acne, Abnormality of the tongue, Cleft palate, High palate	ORPHA:3098
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior	OMIM:615541
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Abnormal eyelid morphology, Keratitis, Splenomegaly, Jaundice, Thyrot...	ORPHA:525731
Noonan Syndrome 2	Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Underdevel...	OMIM:605275
Wilson Disease	Hepatomegaly, Pruritus, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Arthritis, Kayser-Fl...	ORPHA:905
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Edema, Hypothyroidism, Hepatic steatosis, Hemoly...	OMIM:615846
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Abnormal epidermal morphology, Nevus	ORPHA:398189
Bone Marrow Failure Syndrome 3	Hyperactivity, Epicanthus, Eczema, Hyperkeratosis, Hypomelanotic macule, Bone marrow hypocellular...	OMIM:617052
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Thin skin, Acanthosis nigricans, Hypoplastic fingernail	ORPHA:2457
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Br...	OMIM:616351
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger...	OMIM:608612
Classical Ehlers-Danlos Syndrome	Epicanthus, Subcutaneous spheroids, Piezogenic pedal papules, Dermatochalasis, Osteoarthritis, Ci...	ORPHA:287
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Corneal dystrophy, Progeroid facial appearance, Upslanted palpebral fis...	OMIM:617763
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Polyhydramnios, High, narrow palate, Incr...	OMIM:619472
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Lymphadenopathy, Neutro...	OMIM:617827
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Joint swelling, Eczema	ORPHA:1525
Juvenile Arthritis	Skin rash	OMIM:618795
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Bruising susceptibility, Hirsu...	ORPHA:189427
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, ...	ORPHA:90051
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Downslanted palpebral fissures, Attention deficit hyperactivity...	OMIM:301029
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Macular edema, Tubulointer...	ORPHA:279914
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal cytokine signaling, Abnormal...	ORPHA:158048
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Cataract, Decreased response to growth hormone stimulation test, Reduc...	ORPHA:79444
Neuraminidase Deficiency	Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuola...	OMIM:256550
Icf Syndrome	Recurrent respiratory infections, Epicanthus, Abnormality of neutrophils, Protruding tongue, Decr...	ORPHA:2268
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hydrops fetalis, High palate...	ORPHA:85212
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Cataract, Decreased response to growth hormone stimulation test, Reduc...	ORPHA:79443
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Uveitis, Microcornea, High palate, Sparse hair, Microdontia, ...	OMIM:164200
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog...	ORPHA:167
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Abnormal cornea morphology, Chr...	OMIM:244400
Kindler Syndrome	Ridged nail, Telangiectasia of the skin, Symblepharon, Carious teeth, Corneal erosion, Palmoplant...	OMIM:173650
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Polyhydramnios, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent duc...	OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 48	Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Recurrent otitis media, Long palpe...	OMIM:617751
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Tangier Disease	Hepatomegaly, Cicatricial ectropion, Splenomegaly, Facial diplegia, Opacification of the corneal ...	OMIM:205400
Simpson-Golabi-Behmel Syndrome	Epicanthus, Supernumerary nipple, Cleft upper lip, Polyhydramnios, High, narrow palate, Increased...	ORPHA:373
Bresek Syndrome	Neonatal death, Alopecia, Iris coloboma, Cleft palate	ORPHA:85284
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Abnormal eyelid morphology, Lymphadenopathy, Macroglossia, Glossitis	ORPHA:2221
Zimmermann-Laband Syndrome	Hepatomegaly, Telecanthus, Cataract, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cl...	ORPHA:3473
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Alacrima	OMIM:300858
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Chronic...	ORPHA:1507
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Palpebral edema, Narrow mouth, Thick lower lip vermilion, Downturned corners of mouth, Astigmatis...	OMIM:614756
Spontaneous Periodic Hypothermia	Skin rash, Pallor	ORPHA:29822
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis, Cafe-au-lait spot, Downslante...	ORPHA:166035
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Open bite, Splenomegaly, Abnormal pupil morphology, Downslanted pal...	ORPHA:2969
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Premature Aging Syndrome, Penttinen Type	Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, ...	OMIM:601812
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow...	OMIM:620292
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Primary Intestinal Lymphangiectasia	Lymphopenia, Generalized edema, Peritoneal effusion, Edema, Pericardial effusion, Decreased circu...	ORPHA:90362
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno...	OMIM:257200
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum	ORPHA:314647
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Hepatic c...	ORPHA:400
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis	OMIM:116920
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Ptosis, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, S...	OMIM:619293
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg...	ORPHA:171
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation, Exaggerated c...	ORPHA:284160
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Abnormality of the dentition, Decreased circulating antibody level, ...	ORPHA:1951
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ...	ORPHA:98973
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr...	OMIM:610984
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Highly arched eyebrow, Downturned corners of mouth, Short philtrum, Lon...	OMIM:619121
Fucosidosis	Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Petechiae, Cardiomegaly, Splenomegaly...	OMIM:230000
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Donohue Syndrome	Hypermelanotic macule, Hyperkeratosis, Nail dysplasia, Acanthosis nigricans, Hypertrichosis	OMIM:246200
Dengue Fever	Skin rash, Pruritus, Ascites, Gingival bleeding, Bruising susceptibility, Petechiae	ORPHA:99828
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Abnormality ...	ORPHA:94059
Poems Syndrome	Edema, Pericardial effusion, Hypothyroidism, Respiratory insufficiency due to muscle weakness, Pr...	ORPHA:2905
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Subcutaneous nodule, Cobblestone-like hyperke...	ORPHA:2583
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Cataract, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facia...	ORPHA:2959
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin...	ORPHA:319218
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Subcutaneous lipoma	OMIM:613001
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Distal Deletion 19P	Alopecia, Cleft palate, Decreased circulating antibody level, Short philtrum, Thick eyebrow	ORPHA:96129
Pyknoachondrogenesis	Muscular edema, Palpebral edema, Webbed neck	ORPHA:3003
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Dysphagia, Hyperkeratosis, Congenital nonbullous ichth...	OMIM:608013
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition,...	ORPHA:90154
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Punctate opacif...	ORPHA:67043
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Tubulointerstitial nephritis, Increased circulating IgG level, Posterior uveit...	ORPHA:91500
Hemochromatosis, Type 1	Pleural effusion, Alopecia, Ascites, Telangiectasia	OMIM:235200
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth...	OMIM:601358
Scheie Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly, Wide mouth, Rhinitis, Everted lower lip vermilion, T...	ORPHA:93474
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis...	OMIM:614868
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Abnormality of the dentition, Recurrent pneumonia, Gingivitis...	OMIM:203800
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha...	ORPHA:509
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Sparse eyebrow, Erythema nodosum, Carious teeth, Transient hypogam...	ORPHA:3132
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Tented philtrum, Low anterior hair...	ORPHA:495875
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Hypothyroidism, Neutrop...	OMIM:607944
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Epicanthus, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Decreased ci...	OMIM:248500
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Asthma, Recurrent pneumonia, Thick lower l...	OMIM:309900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Uveitis, Developmental cataract	OMIM:617044
Mednik Syndrome	Upslanted palpebral fissure, Erythema, Cataract, Neonatal death	OMIM:609313
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Lymphopenia, Cataract, Eczema, Thrombocytopenia, Recurrent upper respi...	ORPHA:508542
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Hypothyroidism, Keratoconjunctivitis...	ORPHA:14
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs...	ORPHA:228402
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Nevus sebaceous, Linear nevus sebaceous, Ichthyosis, Nevus	OMIM:163200
Sialuria	Hepatomegaly, Epicanthus, Thin upper lip vermilion, Splenomegaly, Synophrys, Macroglossia, Perior...	OMIM:269921
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Conical tooth, Splenomegaly, Defectiv...	OMIM:612132
Aredyld Syndrome	Smooth philtrum, Hepatomegaly, Abnormal dental enamel morphology, Splenomegaly, Upslanted palpebr...	ORPHA:1133
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom...	OMIM:612541
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Xanthelasma, Corneal arcus, Sto...	OMIM:210250
Roifman-Chitayat Syndrome	Lacrimal duct stenosis, Pneumonia, Thin lower lip vermilion, Arthritis, Underdeveloped supraorbit...	OMIM:613328
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Abnormality of the spleen, Splen...	ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Epicanthus, Aggressive behavior, Synophrys, Low anterior hairline, Upslanted palpe...	OMIM:617061
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Dehydration, Pallor, Punctate keratitis	OMIM:557000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Xerostomia, Nail dystrophy, Nail dysplasia, Glossitis	OMIM:175500
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Dental crowding, Prog...	OMIM:614008
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Adams-Oliver Syndrome	Alopecia, Cataract, Cutis marmorata, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair...	ORPHA:974
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Immunodeficiency 10	Autoimmune hemolytic anemia, Hypohidrosis, Hypoplasia of the iris, Lymphadenopathy, Thrombocytope...	OMIM:612783
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increase...	ORPHA:2298
Xylt1-Cdg	Acne, Synophrys, Cleft palate, Thick vermilion border, Long philtrum, Hirsutism	ORPHA:370930
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Polyhydramnios, Oral mucosal blisters, Urinary bladder inflammation, N...	ORPHA:79403
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic insuffici...	ORPHA:309031
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Coffin-Siris Syndrome 7	Sparse scalp hair, Hyperactivity, Epicanthus, Severe temper tantrums, Polyhydramnios, Downslanted...	OMIM:618027
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Hamartoma of tongue, Cleft upper lip, Median cleft l...	OMIM:311200
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism	OMIM:614171
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ...	OMIM:602782
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulin...	OMIM:251260
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Central hypo...	ORPHA:514
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly, Macroglossia	ORPHA:309288
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Gingival overgrowth, Aplasia/Hypoplasia of the lungs, Abnormality of t...	ORPHA:1834
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w...	ORPHA:64744
Dubowitz Syndrome	Hypoplasia of the iris, High palate, Otitis media, Megalocornea, Decreased circulating IgG level,...	OMIM:223370
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Polyhydramnios, Thyroid lymphangiect...	OMIM:235255
Autosomal Dominant Robinow Syndrome	High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodontia, Short ...	ORPHA:3107
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged...	ORPHA:529808
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged...	ORPHA:529799
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Pruritus, Pruritus on foot, Jaundice, Abnormal circulating interleukin concentration, ...	ORPHA:69665
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Thick lower lip vermilion, Recurrent upper respiratory tract infections,...	ORPHA:583
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan...	ORPHA:284
Parkes Weber Syndrome	Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer	ORPHA:90307
Melas	Erythema, Recurrent pancreatitis, Hypertrichosis	ORPHA:550
Chromosome 5P13 Duplication Syndrome	Epicanthus, Blepharophimosis, Low posterior hairline, Upslanted palpebral fissure, Self-injurious...	OMIM:613174
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Edema, Polyhydramnios, F...	ORPHA:98905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile ...	ORPHA:562639
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Hirsutism	ORPHA:77296
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo...	ORPHA:97287
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Uveitis, Posterior retinal neovascularization	OMIM:193235
Scleromyxedema	Pruritus, Thickened skin, Skin-colored papule, Paraproteinemia, Papule, Dysphagia, Sclerodactyly	ORPHA:167635
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, High palate, Widely spac...	OMIM:618268
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating specific IgE ...	ORPHA:74
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Chops Syndrome	Chronic lung disease, Cataract, Splenomegaly, Synophrys, Patent ductus arteriosus, High, narrow p...	OMIM:616368
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Tor...	OMIM:609242
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Hypohidrosis, Abnormality of the orbital region, Keratocon...	ORPHA:43393
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem...	ORPHA:793
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F...	ORPHA:160
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Fumarase Deficiency	Necrotizing enterocolitis, Polyhydramnios, Conjunctival icterus, Intrahepatic cholestasis, High p...	OMIM:606812
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Generalized e...	ORPHA:544482
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Stomatitis, Ascites, G...	ORPHA:97280
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Lujo Hemorrhagic Fever	Respiratory distress, Generalized edema, Skin rash, Maculopapular exanthema, Crackles, Facial ede...	ORPHA:319213
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Antecubital pterygium, Ankyloblepharon, Bilateral cleft...	OMIM:619339
Wiedemann-Rautenstrauch Syndrome	Downturned corners of mouth, Absent eyebrow, Alopecia, Prematurely aged appearance, Absent eyelas...	OMIM:264090
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis,...	ORPHA:2414
Neutropenia, Severe Congenital, X-Linked	Eczema	OMIM:300299
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely...	OMIM:613610
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Erosion of oral mucosa, Recurrent skin infections, Pneumonia, Abnormal oral mucosa morp...	ORPHA:79404
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Thin skin, Abnormal temper tantrums,...	ORPHA:449291
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
15Q14 Microdeletion Syndrome	Acne, Abnormality of the dentition, Cleft palate, Short philtrum, Long philtrum, Smooth philtrum	ORPHA:261190
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Koolen-De Vries Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Eczema, Abnormality of hair texture, Cleft upper lip...	OMIM:610443
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Acne, Anorexia, Hirsutism, Skin ulcer, Recurrent cutaneous fungal infections, ...	ORPHA:99889
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Splenomegaly, Jaundice, Normochromic anemia, Cholecy...	OMIM:611881
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Pruritus, Splenomegaly, Portal ve...	ORPHA:64743
Cockayne Syndrome Type 3	Hepatomegaly, Cataract, Carious teeth, Splenomegaly, Microcornea, Keratoconjunctivitis sicca, Len...	ORPHA:90324
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Eclabion, Subcapsular cataract, Ectropion	ORPHA:98907
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Apht...	OMIM:249100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Epicanthus, Multiple pulmonary cysts, Weakness of facial musculat...	OMIM:619418
Charcot-Marie-Tooth Disease Type 4B2	Weakness of facial musculature, Penetrating foot ulcers, Ptosis	ORPHA:99956
Japanese Encephalitis	Respiratory distress, Irregular respiration, Neutrophilia, Facial palsy, Increased circulating Ig...	ORPHA:79139
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Cir...	ORPHA:2035
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:319487
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Williams Syndrome	Redundant skin, Cardiomegaly, Periorbital edema, Microdontia, Chronic otitis media, Megalocornea,...	ORPHA:904
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal lung morphology...	ORPHA:54251
Lymphatic Malformation 6	Epicanthus, Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomega...	OMIM:616843
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:97290
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Erysipelas	OMIM:134610
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Pruritus, Jaundice, Hepatitis, Biliary cirr...	ORPHA:186
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Membranoproliferative glomerulonephritis, Para...	ORPHA:329918
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Polyhydramnios, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva ...	ORPHA:3339
Charge Syndrome	Delayed eruption of teeth, Epicanthus, Lacrimation abnormality, Facial palsy, Highly arched eyebr...	ORPHA:138
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Smooth philtrum, Thin upper lip vermilion, Epicanthus, Cataract, Sutural cataract, Highly arched ...	OMIM:612474
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Gastritis, Increased mean platelet volume, Splenomegaly, Hypothyroidis...	ORPHA:84064
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Patchy alopecia, Aggressive behavior	ORPHA:85279
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Cirrhotic Cardiomyopathy	Hepatomegaly, Cardiomegaly, Conjunctival icterus, Jaundice, Elevated pulmonary artery pressure, P...	ORPHA:57777
Hartnup Disease	Glossitis, Skin rash, Gingivitis, Cutaneous photosensitivity, Infectious encephalitis	ORPHA:2116
Galloway-Mowat Syndrome 7	Eczema, Edema, Minimal change glomerulonephritis, Cleft lip, Cleft palate, High palate, Smooth ph...	OMIM:618348
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Corneal opacity, Bilateral ptosis, Splenomegaly, ...	OMIM:607014
Urachal Cyst	Peritonitis, Erythema	ORPHA:488
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Facial palsy, Carious teeth, Splenomegaly, Anemia, Fac...	OMIM:259700
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Timothy Syndrome	Thin upper lip vermilion, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Microdon...	OMIM:601005
Leigh Syndrome	Ptosis, Alopecia, Cataract, Eczema, Frontal hirsutism, Hypertrichosis	ORPHA:506
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancre...	ORPHA:1655
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Thin upper lip vermilion, Portal hypertension, Pancreatic cysts, Spleno...	OMIM:610199
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Oral ulcer, Gout, Xant...	OMIM:232220
Ring Chromosome 12 Syndrome	Acne, High, narrow palate, Hirsutism, Webbed neck, Breast hypoplasia, Dystrophic toenail	ORPHA:1439
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Smooth philtrum, Delayed eruption of teeth, Epicanthus, Nonimmune hydrops fetalis, Lymphedema, Pe...	OMIM:235510
Complement Factor B Deficiency	Peritonitis, Pneumonia, Decreased circulating complement factor B concentration	OMIM:615561
Scorpion Envenomation	Acute pancreatitis, Pulmonary edema, Mydriasis, Edema, Myocarditis, Erythema, Purpura	ORPHA:466677
2Q37 Microdeletion Syndrome	Sparse scalp hair, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Upslanted...	ORPHA:1001
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Abnormal lymph n...	ORPHA:85450
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Dyspnea, Abnormal T cell morpholog...	OMIM:242900
Wiedemann-Steiner Syndrome	Sacral dimple, Hyperactivity, Epicanthus, Short palpebral fissure, Telecanthus, Aggressive behavi...	ORPHA:319182
Tick-Borne Encephalitis	Facial palsy, Thrombocytopenia, Leukocytosis, Increased circulating IgG level, Leukopenia, Increa...	ORPHA:297
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, Sparse eyebr...	ORPHA:2232
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Lymphedema, Spleno...	ORPHA:584
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Neonatal respiratory distress, Multiple pterygia, Abnormal eyelid morpho...	ORPHA:2990
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, M...	OMIM:225400
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Cutis marmorata, Myocarditis, En...	ORPHA:183
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Alopecia, Abnormal dental morphology, Eczema, Blepharophimosis, Developmental catarac...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Alopecia, Abnormal dental morphology, Eczema, Blepharophimosis, Developmental catarac...	ORPHA:363958
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair	ORPHA:99429
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Dubowitz Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Cataract, Eczema, Abnormal fingernail...	ORPHA:235
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasculitis, Iritis	OMIM:107320
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Epicanthus, Carious teeth, Enamel hypoplasia, Alopecia universalis	OMIM:277440
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Hirsutism	ORPHA:2795
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Anorexia, Thickened skin, Melanocytic nevus, Hyperkeratosis, Long eyela...	ORPHA:79430
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor, Epiphora	OMIM:605549
Rhabdoid Tumor	Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Abnormal reti...	ORPHA:247691
Hamamy Syndrome	Hypoparathyroidism, Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Microcytic anemia, S...	OMIM:611174
Hyperostosis Cranialis Interna	Facial palsy, Epiphora	OMIM:144755
Distal Duplication 5Q	Epicanthus, Eczema, Carious teeth, Thin vermilion border, Narrow mouth, Downslanted palpebral fis...	ORPHA:96097
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Pallor	ORPHA:90036
Rauch-Steindl Syndrome	Sacral dimple, Hyperactivity, Epicanthus, Telecanthus, Highly arched eyebrow, Aggressive behavior...	OMIM:619695
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Generalized Pseudohypoaldosteronism Type 1	Pustule, Osteomyelitis, Atopic dermatitis, Dehydration	ORPHA:171876
Adult-Onset Nemaline Myopathy	Paraproteinemia, Neuromuscular dysphagia	ORPHA:171442
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Abnormality of the dentition, Osteoarthritis, Abnormality of the gingiva...	ORPHA:285
Fibrodysplasia Ossificans Progressiva	Alopecia, Widely spaced teeth	OMIM:135100
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,...	ORPHA:464329
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Polyhydramnios, Splenomegaly, Abnormality of the pa...	OMIM:222470
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy...	ORPHA:567983
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Polyhydramnios, Thrombocytopeni...	OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,...	OMIM:211600
Congenital Enterovirus Infection	Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Hydrops f...	ORPHA:292
Ane Syndrome	Carious teeth, Alopecia, Premature loss of teeth, Hypodontia	ORPHA:157954
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog...	ORPHA:2556
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno...	OMIM:617600
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Downturned corners of mouth, High palate, Intercrural pterygium, Pterygium, Neon...	OMIM:265000
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundice, Cholecystitis, Cirrhosis,...	ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega...	OMIM:619849
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, Pulmonary capilla...	ORPHA:199241
8P11.2 Deletion Syndrome	Hemolytic anemia, Epicanthus, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Microcornea,...	ORPHA:251066
Idiopathic Panuveitis	Cataract, Red eye, Posterior synechiae of the anterior chamber, Conjunctival hyperemia, Cystoid m...	ORPHA:280921
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Impulsivity, Aggressive behavior, Abnormality of hair texture, Thickened skin, Synoph...	ORPHA:73223
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Pseudoxanthoma Elasticum	Skin rash, Acne, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Edema, Pruritus, Ecchymosis, Bruising su...	ORPHA:324636
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Po...	OMIM:602347
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Decr...	ORPHA:90363
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Splenomegaly, Osteoarthritis, Thrombo...	ORPHA:355
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Increased facial adipose tissue, Dermal atrophy, Acanthosis nigrican...	OMIM:248370
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Nevus	OMIM:620189
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Ocular albinism, Abnormal pu...	OMIM:617050
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Subcutaneous nodule, Papule, Lymphedema	ORPHA:79280
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decre...	ORPHA:1855
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Colchicine Poisoning	Myocarditis, Alopecia, Dehydration	ORPHA:31824
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Isolated Biliary Atresia	Hepatomegaly, Pruritus, Splenomegaly, Atretic gallbladder, Jaundice, Cholestasis, Xanthelasma, Ac...	ORPHA:30391
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Vascular Ehlers-Danlos Syndrome	Redundant skin, High, narrow palate, Osteoarthritis, Abnormal pupil morphology, Abnormality of th...	ORPHA:286
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen...	ORPHA:31150
Bethlem Myopathy	Hyperkeratosis, Cigarette-paper scars	ORPHA:610
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, E...	ORPHA:85199
Stüve-Wiedemann Syndrome	Respiratory distress, Lacrimation abnormality, Apnea, Abnormality of the dentition, Asthma, Hypoh...	ORPHA:3206
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Oral ulcer, Scleritis, Tubulointersti...	ORPHA:93126
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Apnea, Premature loss ...	ORPHA:667
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Smooth philtrum, Thin upper lip vermilion, Diastema, Furrowed tongue, Upslanted palpebral fissure...	OMIM:300534
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Osteoarthritis, Hig...	ORPHA:740
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Premature loss of primary teeth, Abnormality of the dentition	ORPHA:93160
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Epicanthus, Highly arched eyebrow, Polyhydramnios, Lymphedema, ...	OMIM:613563
Hyperzincemia With Functional Zinc Depletion	Skin rash	OMIM:601979
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ...	OMIM:601552
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Ullrich Congenital Muscular Dystrophy 1	Facial palsy, Follicular hyperkeratosis	OMIM:254090
Adrenoleukodystrophy	Alopecia, Attention deficit hyperactivity disorder	OMIM:300100
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Redundant skin, Periorbital edema, Atelectasis, Recurrent pneumonia, Cutis laxa...	OMIM:613177
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Glomerulonephritis, Pneu...	ORPHA:340
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia, Conjunctival whitish salt-like deposits	OMIM:211900
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Pneumonia, Curly eyelashes, Highly arched ey...	OMIM:122470
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:207750
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Pericardial effusion, Splenomegaly,...	ORPHA:77261
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Pterygium, Multiple pterygia, Narrow mouth	OMIM:177980
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Hydroxykynureninuria	Stomatitis, Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
Zollinger-Ellison Syndrome	Jaundice, Erythema, Esophagitis	ORPHA:913
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Baller-Gerold Syndrome	Epicanthus, Erythema, Cleft palate, Astigmatism, Thin vermilion border, High palate, Narrow mouth...	OMIM:218600
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes...	ORPHA:565612
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Intraalveolar phospholipid accumulation, Respirator...	OMIM:222700
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, L...	ORPHA:99829
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Prematurely aged appearance, Urticaria, Cutaneous photosensitivity, Dry skin	ORPHA:220295
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Decreased circulating total IgM, High palate, Bruising susceptibility	OMIM:618162
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Polyhydramnios, A...	ORPHA:2671
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Iris coloboma	ORPHA:2612
Cone-Rod Dystrophy 10	Epiphora, Attenuation of retinal blood vessels	OMIM:610283
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Degcags Syndrome	Polyhydramnios, Synophrys, Leukopenia, Iron deficiency anemia, High palate, Pallor, Hepatomegaly,...	OMIM:619488
Nephroblastoma	Aniridia, Neoplasm of the liver, Neoplasm of the lung, Lymphadenopathy	ORPHA:654
Fetal Akinesia Deformation Sequence	Polyhydramnios, Respiratory insufficiency, Cleft palate, Pulmonary hypoplasia, Pterygium	ORPHA:994
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma, Esophagitis	ORPHA:276152
Ogden Syndrome	Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Lymphedema, Deep philtrum, Short...	OMIM:300855
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ...	ORPHA:699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Dural Sinus Malformation	Chemosis, Cerebral edema	ORPHA:97339
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Pulm...	ORPHA:71493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol...	OMIM:300908
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Redundant neck skin, Dental crowding, Eczema, Polyhydramnios, Astigmatism, High palat...	OMIM:617157
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, M...	OMIM:256810
Estrogen Resistance	Breast aplasia, Acne	OMIM:615363
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Vipoma	Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma	ORPHA:97282
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Nonimmune hydrops fetalis, Right ventricular hypertrophy, Cardiomegaly	OMIM:618052
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hepatomegaly, Cataract, Highly arched eyebrow, Splenomegaly, Synophrys...	OMIM:135500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cataract, Respiratory insufficiency, Pulmonary hypoplasia, Narrow mouth, Pterygium	OMIM:224410
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Alopecia, Abnormal fingernail morphology, Abnormality of the dentition, Hypoplastic t...	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Alopecia, Abnormal fingernail morphology, Abnormality of the dentition, Hypoplastic t...	ORPHA:99228
Monosomy X	Epicanthus, Alopecia, Abnormal fingernail morphology, Abnormality of the dentition, Hypoplastic t...	ORPHA:99226
Turner Syndrome	Epicanthus, Alopecia, Abnormal fingernail morphology, Abnormality of the dentition, Hypoplastic t...	ORPHA:881
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m...	ORPHA:2396
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Hyperhidrosis, Neoplasm of the lung, Abnormal liver parenchyma morph...	ORPHA:1332
Reynolds Syndrome	Hepatomegaly, Erythema nodosum, Splenomegaly, Pruritus, Jaundice, Biliary cirrhosis, Cholestasis,...	OMIM:613471
Lymphangioleiomyomatosis	Recurrent respiratory infections, Lymphedema, Retinal hamartoma, Atelectasis, Dyspnea, Abnormalit...	ORPHA:538
Myelofibrosis	Myeloproliferative disorder, Splenomegaly, Pallor, Purpura	OMIM:254450
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis, Ptosis	OMIM:615636
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Facial hypotonia, Hepa...	ORPHA:309282
Autosomal Recessive Omodysplasia	Increased nuchal translucency, Pterygium, Long philtrum	ORPHA:93329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac...	ORPHA:26793
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Phaver Syndrome	Pulmonary artery atresia, Epicanthus, Pterygium, Downslanted palpebral fissures	ORPHA:2876
Fucosidosis	Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthritis, Pterygium, Iris coloboma, Abnormality of the orbital region	ORPHA:371428
Bruck Syndrome	Pterygium, Respiratory insufficiency	ORPHA:2771
Cowden Syndrome	Macule, Conjunctival hamartoma, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevu...	ORPHA:201
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Corneal opacity, Pneumonia, Carious teeth, Splenomegaly,...	OMIM:253200
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Polyhydramnios, Cutis laxa, Atrophic scars, Follicular hyperkeratosis	OMIM:614557
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Intellectual Developmental Disorder, Autosomal Dominant 38	Epicanthus, Aggressive behavior, Hair-pulling, Self-injurious behavior, Downslanted palpebral fis...	OMIM:616393
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Synophrys, Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Downslant...	ORPHA:536545
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Thick vermilion border, Lo...	OMIM:617809
Bickerstaff Brainstem Encephalitis	Ptosis, Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia,...	ORPHA:79138
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Fabry Disease	Conjunctival telangiectasia, Anorexia, Lymphedema, Subcutaneous nodule, Hyperkeratosis, Arthritis	ORPHA:324
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Stickler Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Cataract, Abnormal dental enamel morph...	ORPHA:828
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Cleft soft palate, Downturned corners of mouth, Smooth philtrum	OMIM:619321
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Recurrent skin infections, Glomerulonephritis, Oral mucosal blisters, Car...	ORPHA:79408
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Posterior synechiae of the anterior ...	OMIM:221900
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Skin dimple, Hydromyelia, Hypertrichosis	ORPHA:573278
Al Amyloidosis	Xerostomia, Macroglossia, Peripheral edema, Increased circulating antibody level, Abnormal saliva...	ORPHA:85443
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Hepatomegaly, Generalized edema, Portal hypertension, Conjunctival icter...	OMIM:243800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Alopecia totalis	OMIM:618775
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Persistent pupillary ...	ORPHA:91495
Congenital Analbuminemia	Edema, Facial edema, Pedal edema, Increased circulating antibody level, Oligohydramnios	ORPHA:86816
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thick vermilion border, T...	ORPHA:2636
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Pulmonary embolism, Abnormal erythrocyte enzyme ...	ORPHA:447
Oculoectodermal Syndrome	Epicanthus, Supernumerary nipple, Lymphedema, Microcornea, Eyelid coloboma, Astigmatism, Opacific...	OMIM:600268
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Epicanthus, Median cleft lip, Accessory oral frenulum, Polyhy...	OMIM:617088
Phakomatosis Pigmentokeratotica	Lymphedema, Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Blue nevus, Nevus spilus	ORPHA:2874
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, High palate, Short philtrum, Abnormality of the incisor	ORPHA:96176
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Stillbirth, Spars...	OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Epicanthus, Telecanthus, Eczema, Aggressive behavior, Hair-p...	OMIM:620330
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Adams-Oliver Syndrome 1	Alopecia, Cutis marmorata, Supernumerary nipple, Cleft upper lip, Cleft palate, Small nail	OMIM:100300
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Short palpebral fissure, Highly arched eyebrow	ORPHA:75857
Leprechaunism	Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis	ORPHA:508
Birdshot Chorioretinopathy	Posterior uveitis	OMIM:605808
Pseudoxanthoma Elasticum	Civatte bodies, Yellow papule, Cutis laxa	OMIM:264800
Steinert Myotonic Dystrophy	Alopecia, Tented upper lip vermilion, Polyhydramnios, Abnormality of the tongue muscle, Bilateral...	ORPHA:273
Alzahrani-Kuwahara Syndrome	Cataract, Eczema, Narrow philtrum, Astigmatism, Thick vermilion border, Hypodontia, Long philtrum...	OMIM:619268
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level	OMIM:606002
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Thick eyebrow, Webbed neck	ORPHA:488434
Pallister-Killian Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Webbed neck, Sparse hair...	OMIM:601803
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Acne, Hirsutism	ORPHA:786
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Anodontia, Fine hair	OMIM:241080
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter...	OMIM:119500
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Ascites, Adrenal overactivity	ORPHA:139411
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, High palate, Otitis media, Aspiration, Highly arched eyebrow, Pa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, High palate, Otitis media, Aspiration, Highly arched eyebrow, Pa...	ORPHA:353277
Retinoblastoma	Leukocoria, Red eye, Uveitis, Cleft palate, Leukemia, Heterochromia iridis	ORPHA:790
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Camptodactyly Syndrome, Guadalajara, Type Iii	Telecanthus, Symblepharon, Webbed neck	OMIM:611929
Proteus Syndrome	Epidermal nevus, Lymphedema, Retinal hamartoma, Thickened skin, Subcutaneous nodule, Generalized ...	ORPHA:744
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Oligodontia, Absent fingernail, Sparse hair, Iris coloboma, Cleft uppe...	OMIM:305600
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Decreased circulating cortisol level, Pneumonia	ORPHA:90790
Lysinuric Protein Intolerance	Glomerulonephritis, Decreased circulating antibody level, Tubulointerstitial nephritis, Membranou...	ORPHA:470
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent respiratory infections, Cataract, Dental crowding, Pneumonia, Carious teet...	ORPHA:353281
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Polyhydramnios, Swollen lip, Absent eyelashes, Cleft upper lip, Patent duct...	OMIM:256520
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Patent ductus arteriosus, Wide mouth, Limbal dermoid, Hypothyroidism,...	ORPHA:857
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Blepharophimosis, Cleft upper lip, Patent ductus arteriosus, Up...	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nfkbiz

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 Nfkbiz.

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

Order Mouse and ES Cells

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
Nfkbiz^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfkbiz^{em1(IMPC)Wtsi}	Exon Deletion	Mice
Nfkbiz^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfkbiz^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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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