Gene: Ikbkg MGI:1338074

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

inhibitor of kappaB kinase gamma

Synonyms:

1110037D23Rik, NEMO, IKK[g]

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ikbkg 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 Ikbkg (6 diseases)
Human diseases predicted to be associated with Ikbkg (1245 diseases)

The table below shows human diseases associated to Ikbkg by orthology or direct annotation.

Disease	Matching phenotypes	Source
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi...	OMIM:308300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m...	ORPHA:98813
Incontinentia Pigmenti	Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ...	ORPHA:464
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands	OMIM:300291
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636

The table below shows human diseases predicted to be associated to Ikbkg 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
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Papule	OMIM:244850
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ...	ORPHA:158681
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism, Delayed puberty	ORPHA:2297
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Porokeratosis 8, Disseminated Superficial Actinic Type	Porokeratosis, Papule	OMIM:616063
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule	ORPHA:199267
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis	OMIM:101900
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hyperkeratotic...	ORPHA:737
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Alopecia, Hypergranulosis, Palmop...	ORPHA:79395
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenita...	OMIM:242300
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Non-Epidermolytic Palmoplantar Keratoderma	Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Congenital Panfollicular Nevus	Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Papule	ORPHA:1336
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali...	OMIM:607602
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis	ORPHA:735
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Parana Hard Skin Syndrome	Generalized hyperpigmentation, Short stature, Thickened skin, Growth delay, Hyperkeratosis, Gener...	ORPHA:2812
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene...	OMIM:612281
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea, Hyp...	ORPHA:90158
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru...	ORPHA:79399
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ichthyosis	ORPHA:2274
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous...	OMIM:113800
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Lympha...	ORPHA:2584
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation	ORPHA:140933
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars...	ORPHA:505
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Hepatosplenomegaly, Ichthyosis	OMIM:242520
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta...	ORPHA:89838
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of...	ORPHA:263534
Ichthyosis With Confetti	Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nippl...	OMIM:609165
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
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
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder...	ORPHA:312
Sézary Syndrome	Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Tremor, Lymphadenopathy, Palmoplantar keratoderma...	ORPHA:3162
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Eczema, Allergic rhini...	OMIM:256500
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Spinocerebellar Ataxia 34	Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok...	OMIM:133190
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu...	OMIM:607626
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thr...	ORPHA:79394
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Pneumonia, Pruritus, Thickened skin, Leu...	ORPHA:39041
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato...	OMIM:608649
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Acrokeratoelastoidosis Of Costa	Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu...	ORPHA:38
Darier Disease	Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Abnorma...	ORPHA:218
Erythrokeratodermia Variabilis	Alopecia, Short stature, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Pa...	ORPHA:317
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Scalin...	OMIM:618373
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene...	OMIM:603554
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dys...	OMIM:618625
Necrobiosis Lipoidica	Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous...	ORPHA:542592
Peeling Skin Syndrome 3	Pruritus, Erythema, Abnormal hair morphology, White scaling skin	OMIM:616265
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, ...	OMIM:242150
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Proliferating Trichilemmal Cyst	Epidermoid cyst, Skin ulcer	ORPHA:492
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Elastosis Perforans Serpiginosa	Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule, Serpiginous cutaneou...	ORPHA:79148
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Parakeratosis, Pancytopenia, Aplastic anemia, He...	ORPHA:398124
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Invasive Mole	Menometrorrhagia	ORPHA:99925
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Papule	ORPHA:525
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Fine hair, Melanocytic nevus, Hyperkeratosis, Fre...	ORPHA:1573
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis	OMIM:615022
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ...	OMIM:615225
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis, Abnor...	ORPHA:254478
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin, Depigmentation/hyperpigmentation ...	ORPHA:90283
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Lamellar Ichthyosis	Pruritus, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic otitis media, Abnormalit...	ORPHA:313
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Chilblain Lupus	Hyperkeratosis, Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia	ORPHA:90280
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Eryth...	OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Chromomycosis	Erythematous macule, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopigmented ski...	ORPHA:182
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, Lymphadenopathy...	OMIM:150550
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule	OMIM:247100
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ...	ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule	ORPHA:89843
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis...	ORPHA:169160
Peeling Skin Syndrome 1	Brittle hair, Short stature, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma	OMIM:270300
Recessive X-Linked Ichthyosis	Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Ichthyosis	ORPHA:1954
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Erythroderma, Lymphadenopathy,...	ORPHA:79456
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Epidermal acanthosis, Angular cheilitis, Sparse eyelashes, Sparse axillary hai...	OMIM:613102
Cutaneous Mastocytoma	Maculopapular exanthema, Hypermelanotic macule, Pruritus, Thickened skin, Erythema, Scaling skin,...	ORPHA:79455
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Trichoschisis, Flexion contracture, Absence of subcutane...	OMIM:601675
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Congenital Disorder Of Glycosylation, Type If	Ataxia, Flexion contracture, Hyperkeratosis, Hypertonia, Erythroderma, Failure to thrive	OMIM:609180
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Short stature	ORPHA:2574
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis	OMIM:309560
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail d...	OMIM:131960
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Hypermelanotic macule	OMIM:129200
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr...	ORPHA:399805
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Cole Disease	Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Erythema, Hype...	ORPHA:816
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Juvenile Hyaline Fibromatosis	Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:2028
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi...	OMIM:605676
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Hemophagocytosis, Erythematous papule	ORPHA:86884
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg...	ORPHA:330064
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, C...	OMIM:615895
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia	ORPHA:33355
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Pruritus	ORPHA:280785
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis	OMIM:614328
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ...	OMIM:619510
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar...	ORPHA:247353
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Irida Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Pallor, Ichthyosis	ORPHA:209981
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentation, Palmoplantar keratode...	ORPHA:79402
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dracunculiasis	Recurrent cutaneous abscess formation, Subcutaneous nodule, Skin ulcer	ORPHA:231
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ...	ORPHA:1010
Prolidase Deficiency	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,...	ORPHA:742
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Short stature, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, ...	ORPHA:158668
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, G...	OMIM:242100
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmop...	ORPHA:2251
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Short stature, Eczema, Allergic rhini...	OMIM:618131
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis,...	ORPHA:494
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril...	OMIM:604416
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont...	ORPHA:35173
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob...	ORPHA:90039
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin, Hyper...	OMIM:612379
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Proteus Syndrome	Epidermal nevus, Splenomegaly, Hyperkeratosis, Nevus, Lymphangioma	OMIM:176920
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Darier-White Disease	Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratot...	OMIM:124200
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Abno...	ORPHA:33364
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Meige Disease	Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas...	ORPHA:90186
Ollier Disease	Anemia, Lymphangioma, Subcutaneous nodule, Skin ulcer	ORPHA:296
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Widow's peak, Atopic dermatitis, Knee flexion contra...	OMIM:606242
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Skin ulcer	ORPHA:217390
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Short stature, Erythema, Hyperkeratosis, Mild intr...	OMIM:308050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion, Short stature	OMIM:616298
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairli...	OMIM:613707
Acrogeria	Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:2500
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of amb...	OMIM:615010
Sandhoff Disease, Adult Form	Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dyston...	ORPHA:309169
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Clouston Syndrome	Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa...	OMIM:129500
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Buerger Disease	Skin ulcer	ORPHA:36258
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Porphyria Cutanea Tarda, Type I	Eczema, Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia	OMIM:136300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Cardiomegaly, Follicular hyperkeratosis, Congenital bullous ichthyosifo...	OMIM:613576
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, An...	OMIM:616029
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Ascites, Skin ulcer	ORPHA:834
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti...	ORPHA:238468
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule	ORPHA:48104
Chronic Mucocutaneous Candidiasis	Dyspareunia, Erythema, Hepatitis, Skin ulcer, Hyperkeratosis, Papule	ORPHA:1334
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Abnormal fingernail morphology, Skin ulcer, Fine hair, Abnormality of skin pigment...	ORPHA:1806
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair	ORPHA:1174
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Noonan Syndrome 8	Curly hair, Short stature, Eczema, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar cutis l...	OMIM:615355
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes...	ORPHA:3363
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Abnormality...	ORPHA:91138
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ...	ORPHA:2590
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Hypertrichos...	ORPHA:101330
Chronic Granulomatous Disease	Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Mediastin...	ORPHA:379
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure	ORPHA:659
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly...	ORPHA:3260
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
De Sanctis-Cacchione Syndrome	Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Conjunctivitis	OMIM:278800
Copper Deficiency, Familial Benign	Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia	OMIM:121270
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	OMIM:275400
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair	ORPHA:1883
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ...	ORPHA:47
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,...	OMIM:615234
Mednik Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:171851
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular seminoma	ORPHA:281090
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Short stature, Skin rash, Sparse eyebrow, Recurrent pneumonia, Reticular ...	OMIM:604173
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, A...	OMIM:619691
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H...	ORPHA:79431
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ...	ORPHA:178320
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Poor motor coordination, Reduced intra...	ORPHA:363400
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Prolidase Deficiency	Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Skin ulcer, Prolonged neonatal jaundice,...	OMIM:170100
Intellectual Developmental Disorder, Autosomal Recessive 5	Broad-based gait, Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Hype...	OMIM:611091
Reynolds Syndrome	Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites, Sclerodactyly	ORPHA:779
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Scaling skin, Periungual erythema, Atrichia, Neonatal death, Dystrophic ...	OMIM:308205
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch...	OMIM:614700
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi...	OMIM:308300
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Spar...	OMIM:301845
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Cerebral palsy, Elevated circulating g...	ORPHA:2796
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Mpdu1-Cdg	Eczema, Scaling skin, Ichthyosis	ORPHA:79323
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Phenylketonuria	Eczema, Blue irides, Dry skin, Generalized hypopigmentation, Fair hair, Scleroderma	OMIM:261600
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spastici...	OMIM:616719
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pachyonychia Congenita 2	Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Pemphigus Erythematosus	Malar rash, Hypopigmented skin patches, Acantholysis	ORPHA:79480
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ...	ORPHA:486
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis	OMIM:615907
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h...	ORPHA:1818
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Abnormality of the lymphatic system, Hydr...	ORPHA:276280
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Acanthosis nigricans, Hepatic...	OMIM:612526
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec...	ORPHA:2985
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia	OMIM:616576
Familial Multiple Nevi Flammei	Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule	ORPHA:624
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ataxia, Postural tremor, Limb joint contracture, Seborrheic dermatitis, Splenomegal...	OMIM:301072
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Acquired Purpura Fulminans	Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia	ORPHA:49566
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Obesity, Sparse body hair	ORPHA:85274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Erythroderma	OMIM:617425
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sple...	OMIM:253260
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Increased int...	ORPHA:276435
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi...	OMIM:301220
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Werner Syndrome	Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Secondary amenorrhea, Skin ulcer, Decrea...	ORPHA:902
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Ichthyosis, Decreased C...	OMIM:618495
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Abnormality of skin pigmentation, Sparse hair, Sparse bod...	ORPHA:1810
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size	ORPHA:261483
Takayasu Arteritis	Anemia, Subcutaneous nodule, Skin ulcer	ORPHA:3287
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Recon Progeroid Syndrome	Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Keratoconjunctiviti...	OMIM:620370
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Hypopigmentation of hair, Ataxia, Tremor, Polyc...	ORPHA:100
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Short stature, Eczema, Ichthyosis	ORPHA:3055
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Thyroiditis, Palmoplantar hyperkeratosis, Uveitis, Growth delay, Keratoconj...	OMIM:617388
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Slurred speech, Hyperkeratosis, Gait disturbance, Myoclonus, Hernia	ORPHA:812
Papa Syndrome	Skin ulcer, Lymphadenopathy	ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus...	OMIM:614576
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Abnormal odontoid tissue morphology	ORPHA:401911
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In...	ORPHA:158061
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Short stature, Redundant skin, Abnormal fingernail...	ORPHA:3071
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ...	ORPHA:555905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Hepatomega...	OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca...	ORPHA:79410
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Dyskeratosis Congenita	Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Hypermelanotic ma...	ORPHA:1775
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:767
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai...	OMIM:614602
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,...	ORPHA:330058
Flynn-Aird Syndrome	Dermal atrophy, Skin ulcer	ORPHA:2047
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Follicular hyperplasia, Pu...	OMIM:615934
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Subcutaneous nodule, Hepa...	OMIM:612840
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir...	OMIM:610185
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Subcutaneous nodule, Skin ul...	ORPHA:228119
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple...	OMIM:612852
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch...	OMIM:618282
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m...	ORPHA:98813
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome

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